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
SCNN1D	6339	broad.mit.edu	37	1	1225650	1225650	+	Splice_Site	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:1225650G>T	uc001adu.1	+	12	1795	c.1171_splice	c.e12-1	p.A391_splice	SCNN1D_uc001adt.1_Splice_Site_p.A555_splice|SCNN1D_uc001adw.2_Splice_Site_p.A457_splice|SCNN1D_uc001adx.2_Splice_Site_p.A180_splice|SCNN1D_uc001adv.2_Splice_Site_p.A391_splice	NM_002978	NP_002969			sodium channel, nonvoltage-gated 1, delta												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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTGTCCCCAGGCCTGCCTGG	0.522000												
GLTPD1	80772	broad.mit.edu	37	1	1262694	1262694	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:1262694C>T	uc001aeo.2	+	3	611	c.196C>T	c.(196-198)CGC>TGC	p.R66C	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	66						cytoplasm	glycolipid binding|glycolipid transporter 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;4.95e-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;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GATCATGGAGCGCCTCAGGGG	0.657000												
MIB2	142678	broad.mit.edu	37	1	1560532	1560532	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:1560532G>A	uc001agg.2	+	6	989	c.862G>A	c.(862-864)GGC>AGC	p.G288S	MIB2_uc001agh.2_Missense_Mutation_p.G274S|MIB2_uc001agi.2_Missense_Mutation_p.G288S|MIB2_uc001agj.2_Missense_Mutation_p.G129S|MIB2_uc001agk.2_Intron|MIB2_uc001agl.1_Missense_Mutation_p.G244S|MIB2_uc001agm.2_Intron|MIB2_uc010nyq.1_Missense_Mutation_p.G244S|MIB2_uc009vkh.2_Missense_Mutation_p.G129S|MIB2_uc001agn.2_5'UTR	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	288					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCAGCGGGCGGCTTCTACTA	0.627000												
SKI	6497	broad.mit.edu	37	1	2234480	2234480	+	Missense_Mutation	SNP	G	G	A	rs150934009		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:2234480G>A	uc001aja.3	+	2	1105	c.1033G>A	c.(1033-1035)GCG>ACG	p.A345T		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	345					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CCAGTCCCCCGCGCCTTCCGA	0.597000												
CCDC27	148870	broad.mit.edu	37	1	3688087	3688087	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:3688087G>T	uc001akv.2	+	12	2052	c.1971G>T	c.(1969-1971)TAG>TAT	p.*657Y	LOC388588_uc001akw.3_5'Flank	NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	657										skin(1)	1	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCTCCAAGTAGGCCCAGCCAG	0.597000												
ACOT7	11332	broad.mit.edu	37	1	6393549	6393549	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:6393549C>T	uc001ams.2	-	4	685	c.528G>A	c.(526-528)GTG>GTA	p.V176V	ACOT7_uc010nzq.1_Silent_p.V61V|ACOT7_uc001amt.2_Silent_p.V166V|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Silent_p.V125V|ACOT7_uc001amr.2_Silent_p.V146V	NM_181864	NP_863654	O00154	BACH_HUMAN	acyl-CoA thioesterase 7 isoform hBACHb	176						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity				0	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CAACAGGAGGCACCTCGAGGA	0.522000												
TAS1R1	80835	broad.mit.edu	37	1	6639380	6639380	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:6639380G>A	uc001ant.2	+	6	2262	c.2262G>A	c.(2260-2262)GAG>GAA	p.E754E	TAS1R1_uc001anu.2_Silent_p.E500E|TAS1R1_uc001anv.2_Missense_Mutation_p.R286K|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	754	Cytoplasmic (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ACTTGCCAGAGAACTACAACG	0.557000												
SLC45A1	50651	broad.mit.edu	37	1	8390958	8390958	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:8390958G>A	uc001apb.2	+	4	1405	c.1405G>A	c.(1405-1407)GAA>AAA	p.E469K	SLC45A1_uc001apc.2_Missense_Mutation_p.E167K	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	469					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGGGTCCCGAAACCAGCAG	0.612000												
UBE4B	10277	broad.mit.edu	37	1	10231281	10231281	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:10231281A>C	uc001aqs.3	+	25	4132	c.3419A>C	c.(3418-3420)AAC>ACC	p.N1140T	UBE4B_uc001aqr.3_Missense_Mutation_p.N1011T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.N595T|UBE4B_uc001aqu.2_Missense_Mutation_p.N21T	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1140					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AAAGTTGAAAACCCTGAGAAA	0.488000												
PTCHD2	57540	broad.mit.edu	37	1	11596562	11596562	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:11596562C>T	uc001ash.3	+	21	4136	c.3998C>T	c.(3997-3999)ACG>ATG	p.T1333M		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1333	Helical; (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ATCCTCTACACGCTGACCGTC	0.617000												
PRAMEF8	391002	broad.mit.edu	37	1	12979762	12979762	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:12979762C>T	uc001aup.2	+	4	1037	c.954C>T	c.(952-954)ATC>ATT	p.I318I		NM_001012276	NP_001012276	Q5VWM4	PRAM8_HUMAN	PRAME family member 8	318	LRR 1.										0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCGAGCATCCGTCAATTAA	0.582000												
SPEN	23013	broad.mit.edu	37	1	16263839	16263839	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:16263839G>A	uc001axk.1	+	12	10412	c.10208G>A	c.(10207-10209)CGC>CAC	p.R3403H	SPEN_uc010obp.1_Missense_Mutation_p.R3362H	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3403	Pro-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)		GAGCAGCCTCGCCTCCCAGCT	0.647000												
EPHA2	1969	broad.mit.edu	37	1	16458607	16458607	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:16458607G>A	uc001aya.1	-	13	2414	c.2277C>T	c.(2275-2277)GGC>GGT	p.G759G		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	759	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)	CGCGGGACAGGCCAAAGTCAG	0.602000												
NBPF1	55672	broad.mit.edu	37	1	16893734	16893734	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:16893734A>G	uc009vos.1	-	26	3892	c.3004T>C	c.(3004-3006)TAC>CAC	p.Y1002H	NBPF1_uc009vot.1_Missense_Mutation_p.Y385H|NBPF1_uc001ayz.1_Missense_Mutation_p.Y385H|NBPF1_uc010oce.1_Missense_Mutation_p.Y656H	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	1002	NBPF 6.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCACTTCTGTAGGGCTGGCAT	0.473000												
ATP13A2	23400	broad.mit.edu	37	1	17331307	17331307	+	Silent	SNP	C	C	T	rs141777915		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:17331307C>T	uc001baa.2	-	5	547	c.357G>A	c.(355-357)CCG>CCA	p.P119P	ATP13A2_uc001bab.2_Silent_p.P119P|ATP13A2_uc001bac.2_Silent_p.P119P	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	119	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACTGTGGGGACGGCTCCAGGC	0.662000												
UBR4	23352	broad.mit.edu	37	1	19431150	19431150	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:19431150C>T	uc001bbi.2	-	86	12660	c.12656G>A	c.(12655-12657)CGT>CAT	p.R4219H	UBR4_uc001bbg.2_5'UTR|UBR4_uc001bbh.2_5'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4219					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCCAGCAGACGAGCTATTTC	0.527000												
UBR4	23352	broad.mit.edu	37	1	19481550	19481550	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:19481550G>A	uc001bbi.2	-	44	6324	c.6320C>T	c.(6319-6321)GCG>GTG	p.A2107V	UBR4_uc001bbl.1_Missense_Mutation_p.A44V|UBR4_uc001bbm.1_Missense_Mutation_p.A1319V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2107					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCACCGCCCGCCACCTGGCT	0.483000												
KIAA0090	23065	broad.mit.edu	37	1	19553887	19553887	+	Missense_Mutation	SNP	C	C	T	rs139714938		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:19553887C>T	uc001bbo.2	-	18	2165	c.2122G>A	c.(2122-2124)GTC>ATC	p.V708I	KIAA0090_uc001bbp.2_Missense_Mutation_p.V707I|KIAA0090_uc001bbq.2_Missense_Mutation_p.V707I|KIAA0090_uc001bbr.2_Missense_Mutation_p.V686I	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	708	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		TTCACCTTGACGATCCGCTGT	0.557000												
DDOST	1650	broad.mit.edu	37	1	20987835	20987835	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:20987835G>A	uc001bdo.1	-	1	203	c.60C>T	c.(58-60)CCC>CCT	p.P20P	DDOST_uc009vpw.1_Silent_p.P20P|DDOST_uc010odd.1_5'UTR|DDOST_uc010ode.1_Silent_p.P20P	NM_005216	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide-protein	20					innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|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;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGCGGTGCTGGGCTCCATCT	0.662000											OREG0013196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EIF4G3	8672	broad.mit.edu	37	1	21220047	21220047	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:21220047T>C	uc001bec.2	-	13	2304	c.2048A>G	c.(2047-2049)GAT>GGT	p.D683G	EIF4G3_uc010odi.1_Missense_Mutation_p.D287G|EIF4G3_uc010odj.1_Missense_Mutation_p.D682G|EIF4G3_uc009vpz.2_Missense_Mutation_p.D403G|EIF4G3_uc001bed.2_Missense_Mutation_p.D683G|EIF4G3_uc001bef.2_Missense_Mutation_p.D682G|EIF4G3_uc001bee.2_Missense_Mutation_p.D689G	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	683					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CCTTCCAAAATCAGCAAAGGC	0.468000												
ECE1	1889	broad.mit.edu	37	1	21554468	21554468	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:21554468C>T	uc001bek.2	-	15	1812	c.1737G>A	c.(1735-1737)CCG>CCA	p.P579P	ECE1_uc001bem.2_Silent_p.P563P|ECE1_uc001bej.2_Silent_p.P567P|ECE1_uc001bei.2_Silent_p.P576P|ECE1_uc010odl.1_Silent_p.P579P	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	579	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGATCCCGGCCGGAAACACAA	0.607000												
EPHB2	2048	broad.mit.edu	37	1	23111124	23111124	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:23111124G>A	uc009vqj.1	+	3	511	c.366G>A	c.(364-366)TCG>TCA	p.S122S	EPHB2_uc001bge.2_Silent_p.S122S|EPHB2_uc001bgf.2_Silent_p.S122S|EPHB2_uc010odu.1_Silent_p.S122S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	122	Extracellular (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACTTTGACTCGGCCACCAAGA	0.572000									Hereditary_Prostate_Cancer			
LUZP1	7798	broad.mit.edu	37	1	23419547	23419547	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:23419547C>T	uc001bgk.2	-	4	1592	c.1208G>A	c.(1207-1209)CGG>CAG	p.R403Q	LUZP1_uc010odv.1_Missense_Mutation_p.R403Q|LUZP1_uc001bgl.2_Missense_Mutation_p.R403Q|LUZP1_uc001bgm.1_Missense_Mutation_p.R403Q	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	403						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTCCCTGTTCCGGAGTCGTTC	0.507000												
MYOM3	127294	broad.mit.edu	37	1	24406652	24406652	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:24406652G>A	uc001bin.3	-	20	2603	c.2440C>T	c.(2440-2442)CGG>TGG	p.R814W	MYOM3_uc001bim.3_Missense_Mutation_p.R471W|MYOM3_uc001bio.2_Missense_Mutation_p.R814W	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	814	Fibronectin type-III 5.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GATGTGGCCCGCACCTCGGAT	0.517000												
GRHL3	57822	broad.mit.edu	37	1	24669404	24669404	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:24669404G>A	uc001biy.2	+	11	1369	c.1323G>A	c.(1321-1323)TCG>TCA	p.S441S	GRHL3_uc001bix.2_Silent_p.S436S|GRHL3_uc001biz.2_Silent_p.S343S	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	436					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GCCTGCTGTCGGGCTTCAGGG	0.617000												
FGR	2268	broad.mit.edu	37	1	27943449	27943449	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:27943449G>A	uc001boj.2	-	5	747	c.601C>T	c.(601-603)CGC>TGC	p.R201C	FGR_uc001boi.2_5'Flank|FGR_uc001bok.2_Missense_Mutation_p.R201C|FGR_uc001bol.2_Missense_Mutation_p.R201C|FGR_uc001bom.2_Missense_Mutation_p.R201C	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	201	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCCAGTTTGCGGATCTTGTAA	0.507000												
PUM1	9698	broad.mit.edu	37	1	31437642	31437642	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:31437642G>A	uc001bsi.1	-	14	2315	c.2202C>T	c.(2200-2202)GGC>GGT	p.G734G	PUM1_uc001bsf.1_Silent_p.G400G|PUM1_uc001bsg.1_Intron|PUM1_uc001bsh.1_Silent_p.G734G|PUM1_uc001bsj.1_Silent_p.G708G|PUM1_uc010oga.1_Silent_p.G590G|PUM1_uc001bsk.1_Silent_p.G770G|PUM1_uc010ogb.1_Silent_p.G675G	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	734	Ser-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)		AAAAGCTAAGGCCGTTATAAA	0.557000												
PEF1	553115	broad.mit.edu	37	1	32096305	32096305	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:32096305T>G	uc001bth.1	-	5	776	c.764A>C	c.(763-765)GAG>GCG	p.E255A	HCRTR1_uc010ogl.1_Intron|PEF1_uc001bte.1_3'UTR|PEF1_uc001btf.1_Missense_Mutation_p.E94A|PEF1_uc001btg.1_Missense_Mutation_p.E185A	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	255	EF-hand 5.|Required for interaction with PDCD6.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CCGGAAGGCCTCTGTCAGCAC	0.582000												
PSMB2	5690	broad.mit.edu	37	1	36074928	36074928	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:36074928C>T	uc001bzf.1	-	4	477	c.367G>A	c.(367-369)GCC>ACC	p.A123T	PSMB2_uc001bzd.1_Missense_Mutation_p.A123T|PSMB2_uc010ohz.1_Missense_Mutation_p.A98T|PSMB2_uc001bzg.1_Missense_Mutation_p.A123T	NM_002794	NP_002785	P49721	PSB2_HUMAN	proteasome beta 2 subunit	123					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	TTGGCCAAGGCTGCCAGGTAG	0.512000												
THRAP3	9967	broad.mit.edu	37	1	36769406	36769406	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:36769406C>T	uc001cae.3	+	12	2880	c.2656C>T	c.(2656-2658)CGT>TGT	p.R886C	THRAP3_uc001caf.3_Missense_Mutation_p.R886C|C1orf113_uc010oia.1_5'Flank	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	886					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCATGATGACCGTGAAGGCGA	0.582000			T	USP6	aneurysmal bone cysts							
GRIK3	2899	broad.mit.edu	37	1	37356650	37356650	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:37356650C>T	uc001caz.2	-	2	298	c.163G>A	c.(163-165)GCC>ACC	p.A55T	GRIK3_uc001cba.1_Missense_Mutation_p.A55T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	55	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGCTCCTCGGCATTCATGACC	0.507000												
EPHA10	284656	broad.mit.edu	37	1	38227403	38227403	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:38227403G>A	uc009vvi.2	-	3	610	c.524C>T	c.(523-525)ACA>ATA	p.T175I	EPHA10_uc001cbw.3_Missense_Mutation_p.T175I	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	175	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGCACCTCTGTGTTCAGCTT	0.672000												
SLC6A9	6536	broad.mit.edu	37	1	44463398	44463398	+	Missense_Mutation	SNP	G	G	A	rs146175246		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:44463398G>A	uc001cll.2	-	14	2132	c.1940C>T	c.(1939-1941)GCC>GTC	p.A647V	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Missense_Mutation_p.A593V|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.A578V|SLC6A9_uc001cln.2_Missense_Mutation_p.A574V|SLC6A9_uc010oko.1_Missense_Mutation_p.A463V	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	647	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGGCTTTGTGGCATTTTTCAA	0.647000												
RNF220	55182	broad.mit.edu	37	1	45115605	45115605	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:45115605C>T	uc001clv.1	+	14	1965	c.1605C>T	c.(1603-1605)TGC>TGT	p.C535C	RNF220_uc001clw.1_Silent_p.C535C|RNF220_uc010oky.1_Silent_p.C322C|RNF220_uc010okz.1_Silent_p.C277C|RNF220_uc001clx.1_Silent_p.C251C|RNF220_uc001cly.1_Silent_p.C215C|RNF220_uc001clz.1_Silent_p.C214C|RNF220_uc001cma.1_Silent_p.C214C|TMEM53_uc001cmb.1_Intron	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	535	RING-type.				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						ACGTGCACTGCGAGGAGTGCT	0.647000												
TMEM53	79639	broad.mit.edu	37	1	45120473	45120473	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:45120473G>T	uc001cmc.2	-	3	628	c.592C>A	c.(592-594)CAC>AAC	p.H198N	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Missense_Mutation_p.H125N|TMEM53_uc009vxh.1_Missense_Mutation_p.H81N|TMEM53_uc010ola.1_Missense_Mutation_p.H81N	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	198						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					TCATAGAAGTGGGTGTGGAAG	0.622000												
HPDL	84842	broad.mit.edu	37	1	45793585	45793585	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:45793585C>T	uc001cne.2	+	1	1041	c.765C>T	c.(763-765)GGC>GGT	p.G255G		NM_032756	NP_116145	Q96IR7	HPDL_HUMAN	glyoxalase domain containing 1	255					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	Acute lymphoblastic leukemia(166;0.155)					AGGGGCCAGGCCTGCAGCACG	0.647000												
SLC5A9	200010	broad.mit.edu	37	1	48698138	48698138	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:48698138G>A	uc001cro.2	+	8	1049	c.997G>A	c.(997-999)GTC>ATC	p.V333I	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.V358I|SLC5A9_uc010omt.1_Missense_Mutation_p.V347I|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	333	Helical; (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						GTTCTTCATCGTCATGCCTGG	0.572000												
CC2D1B	200014	broad.mit.edu	37	1	52824825	52824825	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:52824825G>A	uc001ctq.1	-	11	1269	c.1131C>T	c.(1129-1131)GCC>GCT	p.A377A	CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_Silent_p.A68A	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	377										ovary(2)	2						ACTCTGTAGGGGCCACTTGAA	0.632000												
ORC1L	4998	broad.mit.edu	37	1	52850933	52850933	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:52850933G>A	uc001ctt.2	-	10	1702	c.1483C>T	c.(1483-1485)CTG>TTG	p.L495L	ORC1L_uc010oni.1_Silent_p.L490L|ORC1L_uc001ctu.2_Silent_p.L495L|ORC1L_uc009vzd.2_Silent_p.L249L	NM_004153	NP_004144	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	495					cell cycle checkpoint|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	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding				0						GAAACATGCAGCCTACCATTG	0.428000												
C1orf175	374977	broad.mit.edu	37	1	55118746	55118746	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:55118746G>A	uc010ooe.1	+	3	471	c.147G>A	c.(145-147)CTG>CTA	p.L49L	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Silent_p.L49L|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.L49L|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	49						integral to membrane	binding				0						TGTTGAATCTGCTCCCAAGTC	0.577000												
L1TD1	54596	broad.mit.edu	37	1	62675694	62675694	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:62675694A>G	uc001dae.3	+	4	1550	c.1248A>G	c.(1246-1248)GAA>GAG	p.E416E		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	416	Glu-rich.									ovary(1)|skin(1)	2						tggaggaggaagaagaagaag	0.249000												
UBE2U	148581	broad.mit.edu	37	1	64671363	64671363	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:64671363G>T	uc001dbn.1	+	2	352	c.108G>T	c.(106-108)TGG>TGT	p.W36C		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	36							ATP binding|protein binding|ubiquitin-protein ligase activity				0						TGATGGAATGGGAAGTTGAAA	0.289000												
SGIP1	84251	broad.mit.edu	37	1	67207114	67207114	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:67207114C>T	uc001dcr.2	+	24	2676	c.2459C>T	c.(2458-2460)GCT>GTT	p.A820V	SGIP1_uc010opd.1_Missense_Mutation_p.A420V|SGIP1_uc001dcs.2_Missense_Mutation_p.A420V|SGIP1_uc001dct.2_Missense_Mutation_p.A422V|SGIP1_uc009wat.2_Missense_Mutation_p.A614V|SGIP1_uc001dcu.2_Missense_Mutation_p.A325V	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	820					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						AAAAGGTTTGCTGCAGGTAAA	0.398000												
IFI44L	10964	broad.mit.edu	37	1	79106770	79106770	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:79106770T>G	uc010oro.1	+	7	1292	c.1113T>G	c.(1111-1113)TTT>TTG	p.F371L	IFI44L_uc010orp.1_Missense_Mutation_p.F108L|IFI44L_uc010orq.1_Missense_Mutation_p.F108L	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	371						cytoplasm					0						AAGACAACTTTTTAAACATGA	0.299000												
COL24A1	255631	broad.mit.edu	37	1	86307793	86307793	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:86307793G>A	uc001dlj.2	-	41	3570	c.3528C>T	c.(3526-3528)GGC>GGT	p.G1176G	COL24A1_uc001dli.2_Silent_p.G312G|COL24A1_uc010osd.1_Silent_p.G476G|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1176	Collagen-like 12.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTCCTGGTTGGCCCTGATGGC	0.363000												
SLC44A3	126969	broad.mit.edu	37	1	95290108	95290108	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:95290108T>C	uc001dqv.3	+	3	302	c.195T>C	c.(193-195)TAT>TAC	p.Y65Y	SLC44A3_uc001dqx.3_Silent_p.Y65Y|SLC44A3_uc010otq.1_Silent_p.Y29Y|SLC44A3_uc010otr.1_Silent_p.Y29Y|SLC44A3_uc001dqw.3_Silent_p.Y17Y|SLC44A3_uc010ots.1_Silent_p.Y17Y|SLC44A3_uc009wds.2_5'UTR|SLC44A3_uc010ott.1_Silent_p.Y17Y|SLC44A3_uc010otu.1_5'Flank	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	65						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TCTTTGGCTATGACAGCTTTG	0.532000												
TMEM56	148534	broad.mit.edu	37	1	95657379	95657379	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:95657379A>G	uc001drb.2	+	7	1038	c.747A>G	c.(745-747)AGA>AGG	p.R249R	RWDD3_uc001drd.3_Intron|uc001dre.1_Intron|TMEM56_uc001drc.2_Silent_p.R249R	NM_152487	NP_689700	Q96MV1	TMM56_HUMAN	transmembrane protein 56	249						integral to membrane					0		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CTCACATCAGACAAGAGAAAG	0.368000												
CELSR2	1952	broad.mit.edu	37	1	109792844	109792844	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:109792844C>T	uc001dxa.3	+	1	204	c.143C>T	c.(142-144)TCG>TTG	p.S48L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	48	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)		CGAGGCTCTTCGGGGGCCTGC	0.532000												
CELSR2	1952	broad.mit.edu	37	1	109810552	109810552	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:109810552C>T	uc001dxa.3	+	17	6249	c.6188C>T	c.(6187-6189)ACG>ATG	p.T2063M		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2063	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)		CGCAACGCCACGCAGCACACA	0.677000												
GPR61	83873	broad.mit.edu	37	1	110086921	110086921	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:110086921T>C	uc001dxy.2	+	2	1960	c.1277T>C	c.(1276-1278)CTG>CCG	p.L426P		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	426	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTGAGTTCCTGGAGCAGCAA	0.612000												
GNAT2	2780	broad.mit.edu	37	1	110146144	110146144	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:110146144C>T	uc001dya.2	-	8	1110	c.897G>A	c.(895-897)GCG>GCA	p.A299A		NM_005272	NP_005263	P19087	GNAT2_HUMAN	guanine nucleotide binding protein, alpha	299					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGTAATTCCCCGCATCATCAT	0.383000												
HBXIP	10542	broad.mit.edu	37	1	110944145	110944145	+	Nonstop_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:110944145T>C	uc001dzr.2	-	4	580	c.522A>G	c.(520-522)TGA>TGG	p.*174W		NM_006402	NP_006393	O43504	HBXIP_HUMAN	hepatitis B virus x-interacting protein	174					anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication	cytosol	protein binding			large_intestine(1)|ovary(1)|pancreas(1)	3		all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134)		GATATGAGCATCAAGAGGCCA	0.403000												
KCNA10	3744	broad.mit.edu	37	1	111061012	111061012	+	Missense_Mutation	SNP	C	C	T	rs150165049		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:111061012C>T	uc001dzt.1	-	1	786	c.398G>A	c.(397-399)CGG>CAG	p.R133Q		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	133						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)		GGGCCGGTTCCGATCAAAGAA	0.453000												
KCNA3	3738	broad.mit.edu	37	1	111216931	111216931	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:111216931G>A	uc001dzv.1	-	1	725	c.501C>T	c.(499-501)GGC>GGT	p.G167G		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	167						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCGGATGCGGCCCCCGGACT	0.632000												
RHOC	389	broad.mit.edu	37	1	113244211	113244211	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:113244211C>T	uc001ecp.1	-	6	833	c.533G>A	c.(532-534)GGC>GAC	p.G178D	RHOC_uc001ecq.1_Missense_Mutation_p.G178D|RHOC_uc001ecr.1_Missense_Mutation_p.G178D|RHOC_uc009wgk.1_Missense_Mutation_p.G178D	NM_001042679	NP_001036144	P08134	RHOC_HUMAN	ras homolog gene family, member C precursor	178					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			ovary(1)	1	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACCTGGAGGCCAGCCCGAGT	0.602000												
CSDE1	7812	broad.mit.edu	37	1	115263163	115263163	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:115263163A>T	uc001efk.2	-	17	2515	c.2049T>A	c.(2047-2049)GAT>GAA	p.D683E	CSDE1_uc001efi.2_Missense_Mutation_p.D729E|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.D652E|CSDE1_uc001efm.2_Missense_Mutation_p.D698E|CSDE1_uc009wgv.2_Missense_Mutation_p.D683E|CSDE1_uc001efn.2_Missense_Mutation_p.D652E	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	683	CSD 9.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACTTACCTGATCTTTCACAC	0.443000												
ATP1A1	476	broad.mit.edu	37	1	116926744	116926744	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:116926744A>G	uc001ege.2	+	2	460	c.121A>G	c.(121-123)ATG>GTG	p.M41V	ATP1A1_uc010owv.1_Missense_Mutation_p.M10V|ATP1A1_uc001egd.2_Missense_Mutation_p.M41V|ATP1A1_uc010oww.1_Missense_Mutation_p.M41V|ATP1A1_uc010owx.1_Missense_Mutation_p.M10V	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	41	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGAAGTTTCTATGGTAAGTAC	0.368000												
ATP1A1	476	broad.mit.edu	37	1	116937732	116937732	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:116937732G>T	uc001ege.2	+	13	2000	c.1661G>T	c.(1660-1662)GGT>GTT	p.G554V	ATP1A1_uc010owv.1_Missense_Mutation_p.G523V|ATP1A1_uc010oww.1_Missense_Mutation_p.G554V|ATP1A1_uc010owx.1_Missense_Mutation_p.G523V|C1orf203_uc009whb.2_Intron	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	554	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CTCCTCGCAGGTTTCTGCCAC	0.488000												
FMO5	2330	broad.mit.edu	37	1	146680415	146680415	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:146680415T>C	uc001epi.2	-	6	1218	c.829A>G	c.(829-831)AGA>GGA	p.R277G	FMO5_uc001eph.3_Missense_Mutation_p.R277G|FMO5_uc001epj.2_Missense_Mutation_p.R277G|FMO5_uc001epk.3_Missense_Mutation_p.R277G	NM_001461	NP_001452	P49326	FMO5_HUMAN	flavin containing monooxygenase 5 isoform 1	277						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			ovary(3)	3	all_hematologic(923;0.0487)					GGAACATACCTGTGTTTAGGC	0.408000												
ADAMTSL4	54507	broad.mit.edu	37	1	150531071	150531071	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:150531071C>A	uc001eux.2	+	15	2741	c.2505C>A	c.(2503-2505)GCC>GCA	p.A835A	ADAMTSL4_uc001euw.2_Silent_p.A835A|ADAMTSL4_uc009wlw.2_Silent_p.A858A|ADAMTSL4_uc010pcg.1_Silent_p.A796A|ADAMTSL4_uc009wlx.2_Translation_Start_Site	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	835	TSP type-1 3.				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)			GCAGAGAGGCCTGTGACATGG	0.632000												
PRUNE	58497	broad.mit.edu	37	1	150990325	150990325	+	Missense_Mutation	SNP	C	C	T	rs141143258		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:150990325C>T	uc001ewh.1	+	2	213	c.77C>T	c.(76-78)GCC>GTC	p.A26V	PRUNE_uc001ewi.1_5'UTR|PRUNE_uc010pco.1_5'UTR|PRUNE_uc001ewj.1_5'UTR	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune	26						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|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)			GGAAATGAAGCCTGTGATTTG	0.348000												
TCHH	7062	broad.mit.edu	37	1	152082655	152082655	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:152082655C>T	uc001ezp.2	-	2	3038	c.3038G>A	c.(3037-3039)CGC>CAC	p.R1013H	TCHH_uc009wne.1_Missense_Mutation_p.R1013H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1013	10 X 30 AA tandem repeats.|4-4.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ccactcctggcgccttctctt	0.219000												
FLG	2312	broad.mit.edu	37	1	152283237	152283237	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:152283237G>A	uc001ezu.1	-	3	4161	c.4125C>T	c.(4123-4125)CAC>CAT	p.H1375H	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1375	Ser-rich.|Filaggrin 8.				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)			AAGCTTGTCTGTGCCCAATGC	0.532000									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152286331	152286331	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:152286331G>A	uc001ezu.1	-	3	1067	c.1031C>T	c.(1030-1032)GCC>GTC	p.A344V	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	344	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)			CCCATGACTGGCTCTGTCTTC	0.562000									Ichthyosis			
LCE5A	254910	broad.mit.edu	37	1	152484105	152484105	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:152484105G>A	uc001ezy.2	+	2	271	c.95G>A	c.(94-96)TGT>TAT	p.C32Y	CRCT1_uc001ezz.2_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	32	Cys-rich.				keratinization					ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			cctcccaagtgtcccccaaAA	0.478000												
INTS3	65123	broad.mit.edu	37	1	153732007	153732007	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:153732007T>C	uc009wom.2	+	12	1376	c.1155T>C	c.(1153-1155)AAT>AAC	p.N385N	INTS3_uc001fct.2_Silent_p.N385N|INTS3_uc001fcu.2_Silent_p.N77N|INTS3_uc001fcv.2_Silent_p.N179N|INTS3_uc010peb.1_Silent_p.N179N|INTS3_uc001fcw.2_5'UTR|INTS3_uc010pec.1_Intron	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	386					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)			TCCAGTCAAATGTCGCTGCCT	0.483000												
IL6R	3570	broad.mit.edu	37	1	154408549	154408549	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:154408549C>T	uc001fez.1	+	6	1349	c.912C>T	c.(910-912)AGC>AGT	p.S304S	IL6R_uc001ffa.1_Silent_p.S304S	NM_000565	NP_000556	P08887	IL6RA_HUMAN	interleukin 6 receptor isoform 1 precursor	304	Fibronectin type-III.|Extracellular (Potential).|WSXWS motif.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity			ovary(3)|breast(1)	4	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCGAGTGGAGCGAGTGGAGCC	0.572000												
FLAD1	80308	broad.mit.edu	37	1	154960591	154960591	+	Missense_Mutation	SNP	A	A	G	rs145148009		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:154960591A>G	uc001fgf.1	+	2	737	c.383A>G	c.(382-384)CAG>CGG	p.Q128R	FLAD1_uc001fgc.2_Missense_Mutation_p.Q29R|FLAD1_uc001fgd.1_Missense_Mutation_p.Q128R|FLAD1_uc001fge.1_Missense_Mutation_p.Q31R|FLAD1_uc001fgg.1_Missense_Mutation_p.Q31R|FLAD1_uc001fgh.1_5'UTR	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	128	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGACACACTCAGGACACCAAC	0.557000												
MUC1	4582	broad.mit.edu	37	1	155161828	155161828	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:155161828G>A	uc010pft.1	-	2	371	c.305C>T	c.(304-306)CCA>CTA	p.P102L	RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Missense_Mutation_p.P111L|MUC1_uc001fiw.1_Missense_Mutation_p.P102L			P15941	MUC1_HUMAN	SubName: Full=MUC1 isoform M13;	102	Extracellular (Potential).|3.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGGTGACTGGGACCGAGGT	0.697000			T	IGH@	B-NHL							
FDPS	2224	broad.mit.edu	37	1	155287966	155287966	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:155287966G>A	uc001fkc.2	+	6	787	c.568G>A	c.(568-570)GTG>ATG	p.V190M	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.V124M|FDPS_uc001fke.2_Missense_Mutation_p.V190M|FDPS_uc001fkf.2_Missense_Mutation_p.V124M|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	190					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	ACAGCCGGGCGTGGGTTTGGA	0.493000												
UBQLN4	56893	broad.mit.edu	37	1	156020296	156020296	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:156020296G>A	uc001fna.2	-	4	551	c.527C>T	c.(526-528)GCC>GTC	p.A176V	UBQLN4_uc010pgx.1_Missense_Mutation_p.A156V	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	ataxin-1 ubiquitin-like interacting protein	176						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			pancreas(1)|skin(1)	2	Hepatocellular(266;0.133)|all_neural(408;0.195)					CATGAAGTTGGCAGAGCCCAG	0.592000												
ISG20L2	81875	broad.mit.edu	37	1	156696793	156696793	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:156696793G>A	uc001fps.1	-	1	913	c.652C>T	c.(652-654)CCC>TCC	p.P218S	ISG20L2_uc001fpt.1_Missense_Mutation_p.P218S|C1orf66_uc001fpu.2_5'Flank|C1orf66_uc001fpv.2_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene	218	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGCAGGGGGGAAGAATGTAC	0.522000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR10X1	128367	broad.mit.edu	37	1	158548958	158548958	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:158548958G>T	uc010pin.1	-	1	732	c.732C>A	c.(730-732)ATC>ATA	p.I244I		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	244	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CAGCTGAAGGGATCCTGAGGA	0.458000												
OR10J5	127385	broad.mit.edu	37	1	159505535	159505535	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:159505535T>C	uc010piw.1	-	1	263	c.263A>G	c.(262-264)CAT>CGT	p.H88R		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_hematologic(112;0.0429)					AGGTTGGTTATGAAAAATGAG	0.443000												
KCNJ10	3766	broad.mit.edu	37	1	160011433	160011433	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:160011433C>T	uc001fuw.1	-	2	1040	c.890G>A	c.(889-891)CGC>CAC	p.R297H		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	297	Cytoplasmic (By similarity).		R -> C (in SESAME).			integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTAGGAAGTGCGCACCTGACA	0.532000												
IGSF8	93185	broad.mit.edu	37	1	160064939	160064939	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:160064939A>G	uc001fva.2	-	2	207	c.162T>C	c.(160-162)TAT>TAC	p.Y54Y	IGSF8_uc001fuz.2_Silent_p.Y54Y|IGSF8_uc009wtf.2_Silent_p.Y54Y	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	54	Ig-like C2-type 1.|Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGGGCCCTCATAGCCGGTCA	0.617000												
ATP1A4	480	broad.mit.edu	37	1	160146362	160146362	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:160146362C>T	uc001fve.3	+	17	3039	c.2560C>T	c.(2560-2562)CGT>TGT	p.R854C	ATP1A4_uc001fvf.3_Intron|ATP1A4_uc001fvg.2_Missense_Mutation_p.R357C|ATP1A4_uc001fvh.2_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	854	Helical; (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)			GGTGAACCACCGTCTCATTGG	0.562000												
SLAMF7	57823	broad.mit.edu	37	1	160722026	160722026	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:160722026A>G	uc001fwq.2	+	6	939	c.924A>G	c.(922-924)GAA>GAG	p.E308E	SLAMF7_uc010pjn.1_Silent_p.E214E|SLAMF7_uc001fws.2_Silent_p.E201E|SLAMF7_uc001fwr.2_Missense_Mutation_p.N274D|SLAMF7_uc010pjo.1_Silent_p.E177E|SLAMF7_uc010pjp.1_Silent_p.E161E|SLAMF7_uc010pjq.1_Missense_Mutation_p.N143D|SLAMF7_uc010pjr.1_Missense_Mutation_p.N127D	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	308	Cytoplasmic (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			skin(2)|ovary(1)	3	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCACTGTGGAAATACCGAAAA	0.363000												
LY9	4063	broad.mit.edu	37	1	160769735	160769735	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:160769735G>A	uc001fwu.2	+	2	367	c.317G>A	c.(316-318)CGA>CAA	p.R106Q	LY9_uc001fwt.2_Missense_Mutation_p.R106Q|LY9_uc010pjs.1_Missense_Mutation_p.R106Q|LY9_uc001fwv.2_Missense_Mutation_p.R106Q|LY9_uc001fww.2_Missense_Mutation_p.R106Q|LY9_uc001fwx.2_Missense_Mutation_p.R106Q|LY9_uc001fwy.1_Missense_Mutation_p.R8Q	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	106	Extracellular (Potential).|Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TACCTGGGCCGACTAGACATC	0.443000												
OLFML2B	25903	broad.mit.edu	37	1	161989766	161989766	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:161989766G>T	uc001gbu.2	-	2	805	c.381C>A	c.(379-381)CCC>CCA	p.P127P	OLFML2B_uc010pkq.1_Silent_p.P127P	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	127										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTCCCTCGCAGGGATTGAGGG	0.602000												
C1orf111	284680	broad.mit.edu	37	1	162343898	162343898	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:162343898G>T	uc001gbx.2	-	3	790	c.726C>A	c.(724-726)GCC>GCA	p.A242A		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	hypothetical protein LOC284680	242										ovary(1)	1	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GACTATTGAAGGCCTGGCAGC	0.547000												
MPZL1	9019	broad.mit.edu	37	1	167757115	167757115	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:167757115A>G	uc001geo.2	+	6	969	c.767A>G	c.(766-768)AAC>AGC	p.N256S	MPZL1_uc001gep.2_3'UTR|MPZL1_uc001geq.2_Missense_Mutation_p.N106S|MPZL1_uc009wvh.2_RNA	NM_003953	NP_003944	O95297	MPZL1_HUMAN	myelin protein zero-like 1 isoform a	256	Cytoplasmic (Potential).				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			ovary(2)	2	all_hematologic(923;0.215)					GACAAGATTAACAAGTCAGAG	0.453000												
SLC19A2	10560	broad.mit.edu	37	1	169446628	169446628	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:169446628T>C	uc001gge.3	-	2	776	c.572A>G	c.(571-573)AAT>AGT	p.N191S	SLC19A2_uc001ggf.3_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	solute carrier family 19, member 2	191	Extracellular (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity				0	all_hematologic(923;0.208)					AGAGATGACATTCAGGCTGAA	0.502000												
SELP	6403	broad.mit.edu	37	1	169560682	169560682	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:169560682C>A	uc001ggi.3	-	15	2485	c.2420G>T	c.(2419-2421)TGC>TTC	p.C807F	SELP_uc001ggh.2_Missense_Mutation_p.C602F|SELP_uc009wvr.2_Missense_Mutation_p.C806F	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	807	Cytoplasmic (Potential).				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATTCAAGGGGCATTTCCCATC	0.313000												
GORAB	92344	broad.mit.edu	37	1	170508634	170508634	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:170508634C>A	uc001gha.2	+	2	447	c.420C>A	c.(418-420)TCC>TCA	p.S140S	GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.3_Silent_p.S140S|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting isoform a	140						Golgi apparatus|nucleus					0						TTGAGAATTCCCATGATGGTC	0.448000												
PRRX1	5396	broad.mit.edu	37	1	170633439	170633439	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:170633439C>T	uc001ghf.2	+	1	127	c.80C>T	c.(79-81)ACC>ATC	p.T27I	PRRX1_uc001ghe.2_Missense_Mutation_p.T27I	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	27						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AACCTCGACACCCTGCAGGCG	0.662000												
TNN	63923	broad.mit.edu	37	1	175096159	175096159	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:175096159C>T	uc001gkl.1	+	13	3096	c.2983C>T	c.(2983-2985)CCC>TCC	p.P995S		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	995	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GACCTGGACGCCCCCCTCTGC	0.507000												
TNR	7143	broad.mit.edu	37	1	175331848	175331848	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:175331848G>A	uc001gkp.1	-	12	2886	c.2805C>T	c.(2803-2805)AGC>AGT	p.S935S	TNR_uc009wwu.1_Silent_p.S935S	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	935	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					TGCCCCGCACGCTGTTGAGGC	0.552000												
PAPPA2	60676	broad.mit.edu	37	1	176564398	176564398	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:176564398C>T	uc001gkz.2	+	3	2822	c.1658C>T	c.(1657-1659)GCA>GTA	p.A553V	PAPPA2_uc001gky.1_Missense_Mutation_p.A553V|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	553	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						CAGCACGAGGCACTGAATGAG	0.562000												
CACNA1E	777	broad.mit.edu	37	1	181706711	181706711	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:181706711G>A	uc001gow.2	+	23	3638	c.3473G>A	c.(3472-3474)TGC>TAC	p.C1158Y	CACNA1E_uc009wxs.2_Missense_Mutation_p.C1046Y|CACNA1E_uc001gox.1_Missense_Mutation_p.C384Y|CACNA1E_uc009wxt.2_Missense_Mutation_p.C384Y	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1158	III.|Helical; Name=S1 of repeat III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TTTGAGATGTGCATCCTCCTG	0.637000												
C1orf14	81626	broad.mit.edu	37	1	182908622	182908622	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:182908622A>G	uc001gpu.2	-	4	1122	c.837T>C	c.(835-837)CTT>CTC	p.L279L	C1orf14_uc001gpv.2_Silent_p.L160L|C1orf14_uc010pnz.1_Silent_p.L137L|C1orf14_uc001gpw.2_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	351											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		TTTCTTCAATAAGTGCAGTAT	0.284000												
LAMC2	3918	broad.mit.edu	37	1	183190045	183190045	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:183190045C>T	uc001gqa.2	+	5	903	c.589C>T	c.(589-591)CGC>TGC	p.R197C	LAMC2_uc001gpz.3_Missense_Mutation_p.R197C|LAMC2_uc010poa.1_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	197					cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						AGCCAGCTGCCGCAGCTCTGC	0.468000												
LAMC2	3918	broad.mit.edu	37	1	183206601	183206601	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:183206601G>A	uc001gqa.2	+	18	3030	c.2716G>A	c.(2716-2718)GCA>ACA	p.A906T	LAMC2_uc001gpz.3_Missense_Mutation_p.A906T|LAMC2_uc010poa.1_Missense_Mutation_p.A606T	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	906	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						GAAAGAAGAAGCACAGCAGCT	0.328000												
RGL1	23179	broad.mit.edu	37	1	183861220	183861220	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:183861220G>A	uc001gqo.2	+	9	1222	c.1065G>A	c.(1063-1065)ATG>ATA	p.M355I	RGL1_uc010pof.1_Missense_Mutation_p.M160I|RGL1_uc001gqm.2_Missense_Mutation_p.M390I|RGL1_uc010pog.1_Missense_Mutation_p.M353I|RGL1_uc010poh.1_Missense_Mutation_p.M353I|RGL1_uc010poi.1_Missense_Mutation_p.M355I	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	355	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						GGGACCGAATGCTGATGTTTG	0.423000												
HMCN1	83872	broad.mit.edu	37	1	186037087	186037087	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:186037087G>A	uc001grq.1	+	50	8056	c.7827G>A	c.(7825-7827)TGG>TGA	p.W2609*		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2609	Ig-like C2-type 24.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CCATCACCTGGTTTAAGGATG	0.423000												
HMCN1	83872	broad.mit.edu	37	1	186140530	186140530	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:186140530T>C	uc001grq.1	+	101	15865	c.15636T>C	c.(15634-15636)AGT>AGC	p.S5212S	HMCN1_uc001grs.1_Silent_p.S781S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5212	EGF-like 3; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CCATAGGAAGTTTCCATTGTG	0.378000												
PRG4	10216	broad.mit.edu	37	1	186277106	186277106	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:186277106C>T	uc001gru.3	+	7	2306	c.2255C>T	c.(2254-2256)ACT>ATT	p.T752I	PRG4_uc001grt.3_Missense_Mutation_p.T711I|PRG4_uc009wyl.2_Missense_Mutation_p.T659I|PRG4_uc009wym.2_Missense_Mutation_p.T618I|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	752	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|47; approximate.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CCCGCTCCAACTACCCCTAAG	0.602000												
PTGS2	5743	broad.mit.edu	37	1	186646796	186646796	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:186646796G>A	uc001gsb.2	-	5	761	c.624C>T	c.(622-624)AAC>AAT	p.N208N	PTGS2_uc009wyo.2_Silent_p.N55N	NM_000963	NP_000954	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 precursor	208					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|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)|central_nervous_system(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GGCCCAGCCCGTTGGTGAAAG	0.423000												
RGS1	5996	broad.mit.edu	37	1	192545020	192545020	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:192545020T>G	uc001gsi.1	+	1	164	c.98T>G	c.(97-99)CTT>CGT	p.L33R	RGS1_uc010pou.1_Missense_Mutation_p.L33R	NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	33					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)				ACTCATTCACTTCTAGACGAC	0.408000												
B3GALT2	8707	broad.mit.edu	37	1	193149798	193149798	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:193149798G>A	uc001gtc.3	-	2	1610	c.895C>T	c.(895-897)CCA>TCA	p.P299S	CDC73_uc001gtb.2_Intron	NM_003783	NP_003774	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta	299	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1						AGGTCTGGTGGCATGTACCAC	0.423000												
C1orf106	55765	broad.mit.edu	37	1	200880697	200880697	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:200880697C>T	uc001gvo.2	+	9	1361	c.1331C>T	c.(1330-1332)CCG>CTG	p.P444L	C1orf106_uc010ppm.1_Missense_Mutation_p.P359L	NM_018265	NP_060735	Q3KP66	CA106_HUMAN	hypothetical protein LOC55765 isoform 1	444										skin(2)|ovary(1)	3						ACCAAGCCCCCGCTGCCCCAC	0.692000												
CACNA1S	779	broad.mit.edu	37	1	201039450	201039450	+	Silent	SNP	G	G	A	rs113659687	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:201039450G>A	uc001gvv.2	-	17	2537	c.2310C>T	c.(2308-2310)GCC>GCT	p.A770A		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	770	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)	GAATGGGCACGGCCTTCTCTT	0.607000												
PKP1	5317	broad.mit.edu	37	1	201291200	201291200	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:201291200G>A	uc001gwd.2	+	9	1756	c.1505G>A	c.(1504-1506)CGC>CAC	p.R502H	PKP1_uc001gwe.2_Missense_Mutation_p.R481H|PKP1_uc009wzm.2_Missense_Mutation_p.R89H	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	502					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						TATAACGCCCGCAACGCCTAC	0.607000												
ELF3	1999	broad.mit.edu	37	1	201984366	201984366	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:201984366G>T	uc001gxg.3	+	8	4223	c.1031G>T	c.(1030-1032)CGG>CTG	p.R344L	ELF3_uc001gxi.3_Missense_Mutation_p.R344L|ELF3_uc001gxh.3_Missense_Mutation_p.R344L	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	344	ETS.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						ATCCTGGAACGGGTGGATGGC	0.567000												
MYBPH	4608	broad.mit.edu	37	1	203138136	203138136	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:203138136G>T	uc001gzh.1	-	9	1374	c.1315C>A	c.(1315-1317)CTA>ATA	p.L439I	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	439	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CGGATCTCTAGGGTGCAGACG	0.562000												
PLEKHA6	22874	broad.mit.edu	37	1	204214839	204214839	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:204214839G>A	uc001hau.2	-	14	2253	c.1936C>T	c.(1936-1938)CGG>TGG	p.R646W	PLEKHA6_uc009xau.1_5'Flank|PLEKHA6_uc009xav.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	646										ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TGGATTTGCCGGTTCAGCACC	0.582000												
PIK3C2B	5287	broad.mit.edu	37	1	204438816	204438816	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:204438816G>T	uc001haw.2	-	3	594	c.115C>A	c.(115-117)CGG>AGG	p.R39R	PIK3C2B_uc010pqv.1_Silent_p.R39R|PIK3C2B_uc001hax.1_Silent_p.R39R|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	39	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGCCGGAGCCGGGACAGGGCA	0.592000												
PIGR	5284	broad.mit.edu	37	1	207107960	207107960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:207107960G>A	uc001hez.2	-	6	1694	c.1510C>T	c.(1510-1512)CAG>TAG	p.Q504*	PIGR_uc009xbz.2_Nonsense_Mutation_p.Q504*	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	504	Ig-like V-type 5.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GGCAGGGCCTGGCAGCCCGTG	0.587000												
PLXNA2	5362	broad.mit.edu	37	1	208218053	208218053	+	Missense_Mutation	SNP	G	G	A	rs140111660		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:208218053G>A	uc001hgz.2	-	20	4432	c.3674C>T	c.(3673-3675)TCG>TTG	p.S1225L		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1225	IPT/TIG 4.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACACTCACCGAGCCAGGCGA	0.597000												
USH2A	7399	broad.mit.edu	37	1	216052336	216052336	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:216052336T>C	uc001hku.1	-	42	8715	c.8328A>G	c.(8326-8328)TTA>TTG	p.L2776L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2776	Fibronectin type-III 14.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTTTTGACTTAACACTGCGG	0.448000										HNSCC(13;0.011)		
MIA3	375056	broad.mit.edu	37	1	222828037	222828037	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:222828037A>C	uc001hnl.2	+	18	4518	c.4509A>C	c.(4507-4509)CAA>CAC	p.Q1503H	MIA3_uc001hnm.2_Missense_Mutation_p.Q381H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1503	Cytoplasmic (Potential).|Potential.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		ACTCACTACAAGCTGCCAAAG	0.423000												
TLR5	7100	broad.mit.edu	37	1	223285360	223285360	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:223285360G>A	uc001hnv.1	-	4	1460	c.1014C>T	c.(1012-1014)CTC>CTT	p.L338L	TLR5_uc001hnw.1_Silent_p.L338L	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	338	Extracellular (Potential).|LRR 7.				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		TGAGAACTTGGAGGTTGTCAA	0.388000												
TP53BP2	7159	broad.mit.edu	37	1	223981100	223981100	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:223981100C>T	uc010pvb.1	-	14	3059	c.2767G>A	c.(2767-2769)GCT>ACT	p.A923T	TP53BP2_uc001hod.2_Missense_Mutation_p.A794T|TP53BP2_uc010puz.1_Missense_Mutation_p.A156T|TP53BP2_uc010pva.1_Missense_Mutation_p.A562T	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	917	Mediates interaction with APC2.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		ATTCCATGAGCGATACGCTCT	0.423000												
DEGS1	8560	broad.mit.edu	37	1	224363470	224363470	+	Translation_Start_Site	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:224363470C>T	uc001hoi.2	+	1	13	c.-160C>T	c.(-162--158)GACGC>GATGC			NM_144780	NP_659004	O15121	DEGS1_HUMAN	degenerative spermatocyte homolog 1, lipid						sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity				0	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CGGGAGAGGACGCCGGAGGGA	0.642000												
LBR	3930	broad.mit.edu	37	1	225591105	225591105	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:225591105C>T	uc001hoy.2	-	14	1891	c.1748G>A	c.(1747-1749)CGA>CAA	p.R583Q	LBR_uc001hoz.2_Missense_Mutation_p.R583Q	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	583					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ACGAGCTTCTCGGTGGACAAG	0.383000												
TMEM63A	9725	broad.mit.edu	37	1	226044616	226044616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:226044616C>T	uc001hpm.1	-	16	1729	c.1479G>A	c.(1477-1479)TGG>TGA	p.W493*		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	493						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					CTCACTTGGTCCAGTGAGACT	0.612000												
OBSCN	84033	broad.mit.edu	37	1	228444500	228444500	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:228444500G>A	uc009xez.1	+	15	4502	c.4458G>A	c.(4456-4458)TCG>TCA	p.S1486S	OBSCN_uc001hsn.2_Silent_p.S1486S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1486	Ig-like 15.				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)				GCTTCAGCTCGAAAGTGCGCA	0.687000												
OBSCN	84033	broad.mit.edu	37	1	228538569	228538569	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:228538569G>A	uc009xez.1	+	77	18388	c.18344G>A	c.(18343-18345)CGG>CAG	p.R6115Q	OBSCN_uc001hsn.2_Missense_Mutation_p.R6115Q|OBSCN_uc001hsr.1_Missense_Mutation_p.R744Q|OBSCN_uc009xfa.2_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6115	Ig-like 53.			R -> L (in Ref. 1; CAC44768).	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)				AACAAGGTCCGGGCCTCACCC	0.488000												
GALNT2	2590	broad.mit.edu	37	1	230372168	230372168	+	Splice_Site	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:230372168T>C	uc010pwa.1	+	5	613	c.541_splice	c.e5+2	p.P181_splice	GALNT2_uc010pvy.1_Splice_Site_p.P143_splice|GALNT2_uc010pvz.1_Splice_Site	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2						immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GCAATGATCGTGAGTACTGAC	0.448000												
HEATR1	55127	broad.mit.edu	37	1	236715409	236715409	+	Splice_Site	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:236715409T>C	uc001hyd.1	-	44	6363	c.6238_splice	c.e44-1	p.V2080_splice	HEATR1_uc009xgh.1_Splice_Site_p.V1242_splice	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAATCGAACCTGAAAGGGATA	0.338000												
OPN3	23596	broad.mit.edu	37	1	241767854	241767854	+	Missense_Mutation	SNP	A	A	G	rs117720055	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:241767854A>G	uc001hza.2	-	2	546	c.401T>C	c.(400-402)GTG>GCG	p.V134A	OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_Intron	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	opsin 3	134	Helical; Name=3; (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity				0	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATAGGCCAGCACGGTTAGGGT	0.507000												
OR2M3	127062	broad.mit.edu	37	1	248366502	248366502	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:248366502A>G	uc010pzg.1	+	1	133	c.133A>G	c.(133-135)ATG>GTG	p.M45V		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AAACTCTGTCATGGTTCTCCT	0.547000												
ZNF692	55657	broad.mit.edu	37	1	249150585	249150585	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:249150585T>C	uc001ifc.1	-	6	728	c.561A>G	c.(559-561)CCA>CCG	p.P187P	ZNF692_uc001iez.1_5'Flank|ZNF692_uc001ifa.1_5'UTR|ZNF692_uc001ifb.1_5'UTR|ZNF692_uc001ifd.1_Silent_p.P187P|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Intron|ZNF692_uc010pzr.1_Silent_p.P192P	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	187					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)			cttcctctcctGGAGGTGGGA	0.448000												
ZMYND11	10771	broad.mit.edu	37	10	294978	294978	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:294978C>T	uc010pzt.1	+	14	2064	c.1636C>T	c.(1636-1638)CTG>TTG	p.L546L	ZMYND11_uc001ifk.2_Silent_p.L545L|ZMYND11_uc010pzu.1_Silent_p.L546L|ZMYND11_uc010pzv.1_Silent_p.L491L|ZMYND11_uc010pzw.1_Silent_p.L461L|ZMYND11_uc001ifm.2_Silent_p.L492L|ZMYND11_uc010pzx.1_Silent_p.L546L|ZMYND11_uc001ifn.2_Silent_p.L492L|ZMYND11_uc009xhg.2_Silent_p.L529L|ZMYND11_uc009xhh.2_Silent_p.L420L|ZMYND11_uc010pzy.1_Silent_p.L398L	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	506	Interaction with human adenovirus E1A.				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)		AATCAAGAAGCTGGCAACACA	0.388000												
AKR1C1	1645	broad.mit.edu	37	10	5008192	5008192	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:5008192T>C	uc001iho.2	+	7	1012	c.171T>C	c.(169-171)AAT>AAC	p.N57N	AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Silent_p.N57N|AKR1C1_uc009xhx.2_Silent_p.N57N|AKR1C1_uc001ihq.2_Silent_p.N57N	NM_001353	NP_001344	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	57					bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process	cytosol	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			ovary(2)	2					NADH(DB00157)	TATACAATAATGAGGAGCAGG	0.448000												
ITIH5	80760	broad.mit.edu	37	10	7618675	7618675	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:7618675G>A	uc001ijq.2	-	10	1798	c.1719C>T	c.(1717-1719)ATC>ATT	p.I573I	ITIH5_uc001ijp.2_Silent_p.I359I|ITIH5_uc001ijr.1_Silent_p.I573I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	573					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						AGAGACGCTCGATGTGGTTGG	0.622000												
HSPA14	51182	broad.mit.edu	37	10	14890639	14890639	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:14890639G>A	uc001inf.2	+	4	394	c.253G>A	c.(253-255)GCG>ACG	p.A85T	HSPA14_uc010qbw.1_Missense_Mutation_p.A85T	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14 isoform 1	85			A -> V (in a breast cancer sample; somatic mutation).		'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	p.A85V(2)		ovary(2)|breast(2)|lung(1)	5						GAAATACATCGCGGAAAGTAA	0.333000												
CACNB2	783	broad.mit.edu	37	10	18828395	18828395	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:18828395C>A	uc001ipr.2	+	14	1785	c.1725C>A	c.(1723-1725)TCC>TCA	p.S575S	CACNB2_uc009xjz.1_Silent_p.S325S|CACNB2_uc001ips.2_Silent_p.S551S|CACNB2_uc001ipt.2_Silent_p.S537S|CACNB2_uc001ipu.2_Silent_p.S547S|CACNB2_uc001ipv.2_Silent_p.S523S|CACNB2_uc009xka.1_Silent_p.S509S|CACNB2_uc001ipw.2_Silent_p.S482S|CACNB2_uc001ipx.2_Silent_p.S520S|CACNB2_uc001ipz.2_Silent_p.S497S|CACNB2_uc001ipy.2_Silent_p.S521S|CACNB2_uc010qco.1_Silent_p.S489S|CACNB2_uc001iqa.2_Silent_p.S527S|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	575					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)	AAGATTATTCCCATGACCACG	0.577000												
THNSL1	79896	broad.mit.edu	37	10	25313576	25313576	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:25313576G>A	uc001isi.3	+	3	1753	c.1424G>A	c.(1423-1425)CGA>CAA	p.R475Q	ENKUR_uc001ish.1_Intron	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1	475					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			pancreas(1)	1					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AACTGGGGCCGACTACTTCCG	0.383000												
KIAA1462	57608	broad.mit.edu	37	10	30315526	30315526	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:30315526C>T	uc001iux.2	-	2	3610	c.3551G>A	c.(3550-3552)AGC>AAC	p.S1184N	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.S1046N|KIAA1462_uc009xle.1_Missense_Mutation_p.S1184N	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1184										ovary(4)	4						AGGGTCTGTGCTGGTGACAAC	0.567000												
C10orf68	79741	broad.mit.edu	37	10	33137556	33137556	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:33137556G>A	uc001iwn.3	+	19	2007	c.1534G>A	c.(1534-1536)GTA>ATA	p.V512I	C10orf68_uc001iwl.1_Missense_Mutation_p.V471I|C10orf68_uc001iwm.1_Missense_Mutation_p.V516I|C10orf68_uc010qei.1_Missense_Mutation_p.V488I|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	512										skin(2)|ovary(1)	3						AGATATGTCCGTACAACGTCA	0.303000												
ZNF37A	7587	broad.mit.edu	37	10	38385550	38385550	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:38385550T>A	uc001izk.2	+	5	824	c.5T>A	c.(4-6)ATC>AAC	p.I2N	ZNF37A_uc001izl.2_Missense_Mutation_p.I2N|ZNF37A_uc001izm.2_Missense_Mutation_p.I2N	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	2						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						TGGAAGATGATCACATCCCAG	0.353000												
ZNF33B	7582	broad.mit.edu	37	10	43088863	43088863	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:43088863A>G	uc001jaf.1	-	5	1650	c.1535T>C	c.(1534-1536)CTC>CCC	p.L512P	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.L400P|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	512	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ATGCCTGGTGAGTACTGACTT	0.388000												
BMS1	9790	broad.mit.edu	37	10	43293987	43293987	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:43293987C>T	uc001jaj.2	+	12	2519	c.2161C>T	c.(2161-2163)CCT>TCT	p.P721S		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	721					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						TGTCAACCAGCCTGACAGAGA	0.473000												
RET	5979	broad.mit.edu	37	10	43622073	43622073	+	Silent	SNP	C	C	T	rs142859395	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:43622073C>T	uc001jal.2	+	19	3280	c.3090C>T	c.(3088-3090)GAC>GAT	p.D1030D	RET_uc001jak.1_Silent_p.D1030D|RET_uc010qez.1_Silent_p.D776D	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	1030	Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	TGATTTATGACGACGGCCTCT	0.542000		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma			
C10orf71	118461	broad.mit.edu	37	10	50530853	50530853	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:50530853A>G	uc010qgp.1	+	3	602	c.263A>G	c.(262-264)CAG>CGG	p.Q88R		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	88											0						TTACCGTCACAGGGCACGGAA	0.577000												
PCDH15	65217	broad.mit.edu	37	10	55582002	55582002	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:55582002A>G	uc001jju.1	-	33	5879	c.5484T>C	c.(5482-5484)CCT>CCC	p.P1828P	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.P1825P|PCDH15_uc010qhw.1_Silent_p.P1788P|PCDH15_uc010qhx.1_Silent_p.P1759P|PCDH15_uc010qhy.1_Silent_p.P1835P|PCDH15_uc010qhz.1_Silent_p.P1830P|PCDH15_uc010qia.1_Silent_p.P1808P|PCDH15_uc010qib.1_Silent_p.P1805P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1828	Poly-Pro.|Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				aaggaggtggagggcaaggaa	0.279000										HNSCC(58;0.16)		
PCDH15	65217	broad.mit.edu	37	10	55582989	55582989	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:55582989G>A	uc001jju.1	-	33	4892	c.4497C>T	c.(4495-4497)GAC>GAT	p.D1499D	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.D1496D|PCDH15_uc010qhw.1_Silent_p.D1459D|PCDH15_uc010qhx.1_Silent_p.D1430D|PCDH15_uc010qhy.1_Silent_p.D1506D|PCDH15_uc010qhz.1_Silent_p.D1501D|PCDH15_uc010qia.1_Silent_p.D1479D|PCDH15_uc010qib.1_Silent_p.D1476D	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1499	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TAAGTGATCCGTCTACATGAG	0.403000										HNSCC(58;0.16)		
MYPN	84665	broad.mit.edu	37	10	69959203	69959203	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:69959203C>A	uc001jnm.3	+	18	3549	c.3364C>A	c.(3364-3366)CTG>ATG	p.L1122M	MYPN_uc001jnn.3_Missense_Mutation_p.L847M|MYPN_uc001jno.3_Missense_Mutation_p.L1122M|MYPN_uc009xpt.2_Missense_Mutation_p.L1122M|MYPN_uc010qit.1_Missense_Mutation_p.L828M|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	1122	Ig-like 4.|Interaction with ACTN.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						CCACAAGATGCTGGTCAGGGA	0.552000												
DNA2	1763	broad.mit.edu	37	10	70191618	70191618	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:70191618C>T	uc001jof.2	-	13	2242	c.2242G>A	c.(2242-2244)GTA>ATA	p.V748I	DNA2_uc001jog.1_Splice_Site_p.L661_splice|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	662					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0						AATAACCTTACGAGAGTACAT	0.378000												
STOX1	219736	broad.mit.edu	37	10	70644505	70644505	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:70644505G>A	uc001jos.2	+	3	1040	c.953G>A	c.(952-954)CGC>CAC	p.R318H	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.R208H	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	318						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						CTCTTATGGCGCAGCTTATCT	0.458000												
KIAA1274	27143	broad.mit.edu	37	10	72299395	72299395	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:72299395C>T	uc001jrd.3	+	15	2066	c.1785C>T	c.(1783-1785)CCC>CCT	p.P595P	KIAA1274_uc001jre.3_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	595										ovary(2)|central_nervous_system(1)	3						AGGAGGGCCCCCTGACCTACA	0.672000												
CAMK2G	818	broad.mit.edu	37	10	75574930	75574930	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:75574930G>A	uc001jvm.1	-	20	1633	c.1514C>T	c.(1513-1515)GCG>GTG	p.A505V	CAMK2G_uc001jvo.1_Missense_Mutation_p.A476V|CAMK2G_uc001jvq.1_Missense_Mutation_p.A453V|CAMK2G_uc001jvr.1_Missense_Mutation_p.A444V|CAMK2G_uc001jvp.1_Missense_Mutation_p.A467V|CAMK2G_uc001jvs.1_Missense_Mutation_p.A488V|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.A445V|CAMK2G_uc009xrp.1_Missense_Mutation_p.A94V	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	507					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					GGCGATGCACGCTGCGTCCTC	0.622000												
KCNMA1	3778	broad.mit.edu	37	10	78651453	78651453	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:78651453T>C	uc001jxn.2	-	26	3349	c.3172A>G	c.(3172-3174)ACC>GCC	p.T1058A	KCNMA1_uc001jxj.2_Missense_Mutation_p.T1004A|KCNMA1_uc001jxk.1_Missense_Mutation_p.T676A|KCNMA1_uc009xrt.1_Missense_Mutation_p.T849A|KCNMA1_uc001jxl.1_Missense_Mutation_p.T683A|KCNMA1_uc001jxo.2_Missense_Mutation_p.T1041A|KCNMA1_uc001jxm.2_Missense_Mutation_p.T1000A|KCNMA1_uc001jxq.2_Missense_Mutation_p.T1030A|uc001jxp.2_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1058	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CGTATCAGGGTGAGGATATTG	0.532000												
MAT1A	4143	broad.mit.edu	37	10	82039973	82039973	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:82039973G>A	uc001kbw.2	-	5	760	c.505C>T	c.(505-507)CGC>TGC	p.R169C		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	169					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGGCCGGAGCGCCTGAGGTCT	0.582000												
IFIT1	3434	broad.mit.edu	37	10	91162510	91162510	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:91162510G>A	uc001kgi.2	+	2	626	c.478G>A	c.(478-480)GCC>ACC	p.A160T	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|IFIT1_uc009xtt.2_Missense_Mutation_p.A160T|IFIT1_uc001kgj.2_Missense_Mutation_p.A129T	NM_001548	NP_001539	P09914	IFIT1_HUMAN	interferon-induced protein with	160	TPR 3.				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding				0						TTATGAACGGGCCAAGGCCTG	0.483000												
BTAF1	9044	broad.mit.edu	37	10	93756173	93756173	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:93756173T>C	uc001khr.2	+	24	3455	c.3357T>C	c.(3355-3357)AGT>AGC	p.S1119S	BTAF1_uc001kht.1_Silent_p.S557S	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1119	HEAT 7.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				AATACCCCAGTACTGCAGTGA	0.383000												
KIF11	3832	broad.mit.edu	37	10	94381191	94381191	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:94381191G>A	uc001kic.2	+	10	1486	c.1178G>A	c.(1177-1179)CGT>CAT	p.R393H	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	393	Potential.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			skin(1)	1						GCTGCAGCCCGTGAGAAAAAT	0.373000												
CYP2C19	1557	broad.mit.edu	37	10	96609690	96609690	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:96609690C>T	uc010qnz.1	+	8	1166	c.1166C>T	c.(1165-1167)ACT>ATT	p.T389I	CYP2C19_uc010qny.1_Missense_Mutation_p.T367I	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	389					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ACCATATTAACTTCCCTCACT	0.393000												
CYP2C19	1557	broad.mit.edu	37	10	96609804	96609804	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:96609804C>G	uc010qnz.1	+	8	1280	c.1280C>G	c.(1279-1281)CCT>CGT	p.P427R	CYP2C19_uc010qny.1_Missense_Mutation_p.P405R	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	427					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TACTTCATGCCTTTCTCAGCA	0.383000												
SORBS1	10580	broad.mit.edu	37	10	97096319	97096319	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:97096319C>T	uc001kkp.2	-	28	3643	c.3598G>A	c.(3598-3600)GAG>AAG	p.E1200K	SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Intron|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.E1059K|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.E1154K|SORBS1_uc010qoe.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	1200					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CCCGCCTGCTCGCCACCTCTA	0.647000												
PI4K2A	55361	broad.mit.edu	37	10	99422723	99422723	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:99422723C>T	uc001kog.1	+	5	1039	c.982C>T	c.(982-984)CGG>TGG	p.R328W	PI4K2A_uc010qoy.1_Missense_Mutation_p.R298W|PI4K2A_uc009xvw.1_Intron	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	328	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			lung(1)|skin(1)	2		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		TTCTAGCTCTCGGGTAAGAGA	0.363000												
CRTAC1	55118	broad.mit.edu	37	10	99625339	99625339	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:99625339G>A	uc001kou.1	-	15	2308	c.1952C>T	c.(1951-1953)TCG>TTG	p.S651L	GOLGA7B_uc001kos.2_Intron|CRTAC1_uc001kot.1_3'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	651						proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTTAACCACCGACCCCAGATT	0.458000												
PYROXD2	84795	broad.mit.edu	37	10	100155183	100155183	+	Nonsense_Mutation	SNP	G	G	A	rs146494121		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:100155183G>A	uc001kpc.2	-	7	738	c.652C>T	c.(652-654)CGA>TGA	p.R218*	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA|PYROXD2_uc010qpe.1_Nonsense_Mutation_p.R218*|MIR1287_hsa-mir-1287|MI0006349_5'Flank	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	218							oxidoreductase activity			central_nervous_system(1)	1						TCATAATATCGGGGAAGCTGG	0.587000												
HPSE2	60495	broad.mit.edu	37	10	100219428	100219428	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:100219428C>T	uc001kpn.1	-	12	1742	c.1682G>A	c.(1681-1683)CGC>CAC	p.R561H	HPSE2_uc009xwc.1_3'UTR|HPSE2_uc001kpo.1_Missense_Mutation_p.R493H|HPSE2_uc009xwd.1_Missense_Mutation_p.R439H	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	561					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCGAAGGGGGCGGGGCTTCAA	0.552000												
SEC31B	25956	broad.mit.edu	37	10	102247505	102247505	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:102247505C>A	uc001krc.1	-	26	3510	c.3408G>T	c.(3406-3408)GTG>GTT	p.V1136V	SEC31B_uc010qpo.1_Silent_p.V1135V|SEC31B_uc001krd.1_Silent_p.V673V|SEC31B_uc001krf.1_Silent_p.V569V|SEC31B_uc001kre.1_Silent_p.V567V	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	1136					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)		TTCCTGCATCCACACATCGGG	0.597000												
LZTS2	84445	broad.mit.edu	37	10	102763814	102763814	+	Missense_Mutation	SNP	C	C	T	rs71488080		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:102763814C>T	uc001ksj.2	+	3	1028	c.959C>T	c.(958-960)TCG>TTG	p.S320L	LZTS2_uc010qpw.1_Missense_Mutation_p.S320L|LZTS2_uc001ksk.2_Missense_Mutation_p.S320L|LZTS2_uc001ksl.2_Missense_Mutation_p.S320L|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	320	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CCACCTCCTTCGGATGAGGCC	0.662000												
SORCS1	114815	broad.mit.edu	37	10	108389108	108389108	+	Silent	SNP	G	G	A	rs144932995		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:108389108G>A	uc001kym.2	-	19	2522	c.2514C>T	c.(2512-2514)GGC>GGT	p.G838G	SORCS1_uc001kyl.2_Silent_p.G838G|SORCS1_uc009xxs.2_Silent_p.G838G|SORCS1_uc001kyn.1_Silent_p.G838G|SORCS1_uc001kyo.2_Silent_p.G838G	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	838	Lumenal (Potential).|PKD.					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)		CGATACCATCGCCAAAGTCCA	0.512000												
NRAP	4892	broad.mit.edu	37	10	115348747	115348747	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:115348747G>C	uc001laj.2	-	42	5344	c.5180C>G	c.(5179-5181)GCC>GGC	p.A1727G	HABP2_uc001lai.3_3'UTR|NRAP_uc009xyb.2_Missense_Mutation_p.A480G|NRAP_uc001lak.2_Missense_Mutation_p.A1692G|NRAP_uc001lal.3_Missense_Mutation_p.A1728G	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1727						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAACAGCAGGGCCTTCTTCTT	0.542000												
FAM160B1	57700	broad.mit.edu	37	10	116603550	116603550	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:116603550T>C	uc001lcb.2	+	7	1202	c.867T>C	c.(865-867)AGT>AGC	p.S289S	FAM160B1_uc001lcc.2_Silent_p.S289S	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	289										lung(1)	1						TGTTAGTAAGTTTGCCAGAGC	0.458000												
HTRA1	5654	broad.mit.edu	37	10	124266334	124266334	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:124266334G>A	uc001lgj.2	+	4	1033	c.905G>A	c.(904-906)CGA>CAA	p.R302Q		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	302	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACCACCCAGCGAGGCGGCAAA	0.622000												
CTBP2	1488	broad.mit.edu	37	10	126691672	126691672	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:126691672A>G	uc009yak.2	-	5	502	c.215T>C	c.(214-216)GTT>GCT	p.V72A	CTBP2_uc009yal.2_Missense_Mutation_p.V72A|CTBP2_uc001lif.3_Missense_Mutation_p.V72A|CTBP2_uc001lih.3_Missense_Mutation_p.V72A|CTBP2_uc001lid.3_Missense_Mutation_p.V140A|CTBP2_uc001lie.3_Missense_Mutation_p.V612A	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	72					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TTCGTTTAGAACCTGCGTGGG	0.637000												
MKI67	4288	broad.mit.edu	37	10	129903109	129903109	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:129903109G>A	uc001lke.2	-	13	7190	c.6995C>T	c.(6994-6996)ACG>ATG	p.T2332M	MKI67_uc001lkf.2_Missense_Mutation_p.T1972M|MKI67_uc009yav.1_Missense_Mutation_p.T1907M|MKI67_uc009yaw.1_Missense_Mutation_p.T1482M	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2332	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)				CTCATCAGTCGTGGGCTTGTC	0.522000												
MGMT	4255	broad.mit.edu	37	10	131334634	131334634	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:131334634G>A	uc001lkh.2	+	2	237	c.211G>A	c.(211-213)GCA>ACA	p.A71T		NM_002412	NP_002403	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	40										ovary(1)|breast(1)	2		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GGGGACGTCTGCAGCTGAGTA	0.527000								Direct_reversal_of_damage				
INPP5A	3632	broad.mit.edu	37	10	134595384	134595384	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:134595384G>A	uc001llp.2	+	15	1426	c.1178G>A	c.(1177-1179)CGA>CAA	p.R393Q	INPP5A_uc001llq.2_Missense_Mutation_p.R288Q	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	393					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CTGGCCTTCCGAATCATGCCC	0.612000												
LRDD	55367	broad.mit.edu	37	11	800567	800567	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:800567C>T	uc001lro.1	-	12	2159	c.2017G>A	c.(2017-2019)GAG>AAG	p.E673K	SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.E673K|LRDD_uc001lrl.1_Missense_Mutation_p.E516K|LRDD_uc001lrm.1_Missense_Mutation_p.E360K|LRDD_uc001lrn.1_Missense_Mutation_p.E516K|LRDD_uc001lrp.1_Missense_Mutation_p.E335K	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	673					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGCCGCGCTCGAAGGCCGCA	0.682000												
MUC2	4583	broad.mit.edu	37	11	1093743	1093743	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:1093743T>C	uc001lsx.1	+	33	12675	c.12648T>C	c.(12646-12648)CCT>CCC	p.P4216P		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4216						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)	ATCCTCCGCCTGAGTCCTCAA	0.607000												
PHLDA2	7262	broad.mit.edu	37	11	2950458	2950458	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:2950458C>G	uc001lxa.1	-	1	193	c.137G>C	c.(136-138)CGC>CCC	p.R46P		NM_003311	NP_003302	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain family A member	46	PH.				apoptosis	cytoplasm|membrane					0		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCTTGGGGCGCGCGCGGGG	0.647000												
RHOG	391	broad.mit.edu	37	11	3849105	3849105	+	Silent	SNP	C	C	T	rs143155056	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:3849105C>T	uc001lyu.2	-	2	422	c.264G>A	c.(262-264)CCG>CCA	p.P88P		NM_001665	NP_001656	P84095	RHOG_HUMAN	ras homolog gene family, member G precursor	88					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		TCTCATAGGACGGCGGACTGG	0.597000												
OR52K1	390036	broad.mit.edu	37	11	4510990	4510990	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:4510990C>A	uc001lza.1	+	1	860	c.860C>A	c.(859-861)CCC>CAC	p.P287H		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTTTTCCCACCCATGGTCAAT	0.458000												
OR52I1	390037	broad.mit.edu	37	11	4615836	4615836	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:4615836A>G	uc010qyi.1	+	1	568	c.568A>G	c.(568-570)AGG>GGG	p.R190G		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTTTGGCCAGGTTAGCATG	0.493000												
OR52E2	119678	broad.mit.edu	37	11	5079943	5079943	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:5079943C>A	uc010qyw.1	-	1	915	c.915G>T	c.(913-915)AAG>AAT	p.K305N		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E,	305	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATAATATTTTCTTCACACATT	0.363000												
C11orf42	160298	broad.mit.edu	37	11	6231598	6231598	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:6231598C>T	uc001mcj.2	+	2	639	c.591C>T	c.(589-591)TGC>TGT	p.C197C		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	hypothetical protein LOC160298	197										ovary(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTCTCCTGCCTCAAGTTTT	0.582000												
TRIM3	10612	broad.mit.edu	37	11	6478040	6478040	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:6478040G>A	uc001mdh.2	-	7	1303	c.916C>T	c.(916-918)CGG>TGG	p.R306W	TRIM3_uc001mdi.2_Missense_Mutation_p.R306W|TRIM3_uc010raj.1_Missense_Mutation_p.R187W|TRIM3_uc009yfd.2_Missense_Mutation_p.R306W|TRIM3_uc010rak.1_Missense_Mutation_p.R306W|TRIM3_uc001mdj.2_Missense_Mutation_p.R187W	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	306					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCGATCGCCGCAGACCGTCC	0.667000												
TPP1	1200	broad.mit.edu	37	11	6638584	6638584	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:6638584C>T	uc001mel.1	-	5	517	c.456G>A	c.(454-456)AGG>AGA	p.R152R	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_Silent_p.R152R	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	152					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GATGTGGGGACCTTACAACAT	0.577000												
PIK3C2A	5286	broad.mit.edu	37	11	17113183	17113183	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:17113183T>C	uc001mmq.3	-	30	4729	c.4663A>G	c.(4663-4665)ACT>GCT	p.T1555A	PIK3C2A_uc009ygu.1_Missense_Mutation_p.T158A|PIK3C2A_uc010rcw.1_Missense_Mutation_p.T1175A|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1555					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)	TGGCCTGGAGTAGGACTGAAG	0.358000												
NUCB2	4925	broad.mit.edu	37	11	17333455	17333455	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:17333455T>C	uc001mmw.2	+	9	1042	c.797T>C	c.(796-798)TTA>TCA	p.L266S	NUCB2_uc001mmv.1_Missense_Mutation_p.L266S|NUCB2_uc009ygz.2_Missense_Mutation_p.L266S	NM_005013	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2 precursor	266	Binds to necdin (By similarity).|EF-hand 1.					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding				0						GAACAAGAATTAGAAGCCCTA	0.274000												
NUCB2	4925	broad.mit.edu	37	11	17351800	17351800	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:17351800C>T	uc001mmw.2	+	12	1374	c.1129C>T	c.(1129-1131)CGT>TGT	p.R377C	NUCB2_uc009ygz.2_Missense_Mutation_p.R347C|NUCB2_uc009yha.2_RNA|NUCB2_uc001mmx.3_RNA|uc001mmy.1_5'Flank	NM_005013	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2 precursor	377	Binds to necdin (By similarity).					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding				0						AGAGCTACAACGTCAGCATGA	0.338000												
NAV2	89797	broad.mit.edu	37	11	20112451	20112451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:20112451C>T	uc001mpr.3	+	27	5909	c.5548C>T	c.(5548-5550)CAG>TAG	p.Q1850*	NAV2_uc001mpp.2_Nonsense_Mutation_p.Q1783*|NAV2_uc009yhx.2_Nonsense_Mutation_p.Q911*|NAV2_uc009yhz.2_Nonsense_Mutation_p.Q492*|NAV2_uc001mpu.2_Nonsense_Mutation_p.Q285*	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1906	Potential.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GACCGTCATGCAGCTCCGAAA	0.493000												
SLC17A6	57084	broad.mit.edu	37	11	22387120	22387120	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:22387120T>G	uc001mqk.2	+	7	1189	c.776T>G	c.(775-777)TTT>TGT	p.F259C		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	259	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						TGGTACATGTTTTGGCTTTTG	0.398000												
BDNF	627	broad.mit.edu	37	11	27679623	27679623	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:27679623C>T	uc010rdu.1	-	2	1340	c.489G>A	c.(487-489)ACG>ACA	p.T163T	BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Silent_p.T163T|BDNF_uc001mrt.2_Silent_p.T178T|BDNF_uc010rdw.1_Silent_p.T163T|BDNF_uc009yjd.2_Silent_p.T163T|BDNF_uc001mru.2_Silent_p.T163T|BDNF_uc010rdx.1_Silent_p.T163T|BDNF_uc010rdy.1_Silent_p.T163T|BDNF_uc009yjg.2_Silent_p.T163T|BDNF_uc009yje.2_Silent_p.T245T|BDNF_uc009yjf.2_Silent_p.T192T|BDNF_uc001mrv.2_Silent_p.T163T|BDNF_uc001mrw.3_Silent_p.T163T|BDNF_uc001mrx.2_Silent_p.T163T|BDNF_uc001mry.3_Silent_p.T163T|BDNF_uc001mrz.3_Silent_p.T163T|BDNF_uc001msa.2_Silent_p.T171T	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	163						extracellular region	growth factor activity				0						GGACTGTGACCGTCCCGCCCG	0.532000												
IMMP1L	196294	broad.mit.edu	37	11	31477872	31477872	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:31477872T>C	uc001msy.1	-	5	452	c.256A>G	c.(256-258)ATT>GTT	p.I86V	IMMP1L_uc001msz.1_Missense_Mutation_p.I86V|IMMP1L_uc009yjo.2_Missense_Mutation_p.I86V|IMMP1L_uc009yjp.2_RNA	NM_144981	NP_659418	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane	86					proteolysis	mitochondrial inner membrane	serine-type peptidase activity				0	Lung SC(675;0.225)					TCCAAACCAATTACTCTTTTA	0.328000												
PAX6	5080	broad.mit.edu	37	11	31822302	31822302	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:31822302C>T	uc001mtd.3	-	6	1350	c.460G>A	c.(460-462)GGA>AGA	p.G154R	PAX6_uc001mte.3_Missense_Mutation_p.G154R|PAX6_uc001mtg.3_Missense_Mutation_p.G168R|PAX6_uc001mtf.3_Missense_Mutation_p.G154R|PAX6_uc001mth.3_Missense_Mutation_p.G154R|PAX6_uc009yjr.2_Missense_Mutation_p.G154R	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	154	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CCCCAGCTTCCGGTCTGCCCG	0.547000									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation			
ELF5	2001	broad.mit.edu	37	11	34511570	34511570	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:34511570G>A	uc001mvo.1	-	4	652	c.422C>T	c.(421-423)GCC>GTC	p.A141V	ELF5_uc001mvp.1_Missense_Mutation_p.A131V|ELF5_uc009ykd.1_Intron	NM_198381	NP_938195	Q9UKW6	ELF5_HUMAN	E74-like factor 5 ESE-2a	141					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				TTTGATGGTGGCCTTGCTTTC	0.458000												
COMMD9	29099	broad.mit.edu	37	11	36298658	36298658	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:36298658G>A	uc001mwn.3	-	4	370	c.333C>T	c.(331-333)ACC>ACT	p.T111T	COMMD9_uc009ykj.2_Silent_p.T69T|COMMD9_uc010rfb.1_Silent_p.T111T	NM_014186	NP_054905	Q9P000	COMD9_HUMAN	COMM domain containing 9 isoform 1	111										ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				CCTGGGCTTCGGTTCTCCAAG	0.483000												
TRAF6	7189	broad.mit.edu	37	11	36512014	36512014	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:36512014C>T	uc001mwr.1	-	8	1283	c.943G>A	c.(943-945)GAG>AAG	p.E315K	TRAF6_uc001mws.1_Missense_Mutation_p.E315K	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6	315	Potential.|Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)				GCAGTCAGCTCCCGGATTTGA	0.458000												
ACCSL	390110	broad.mit.edu	37	11	44072905	44072905	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:44072905G>A	uc001mxw.1	+	4	712	c.656G>A	c.(655-657)CGG>CAG	p.R219Q	ACCSL_uc009ykr.2_Missense_Mutation_p.R38Q	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	219							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						GAAGTGGCCCGGTTCCTGACC	0.527000												
PHF21A	51317	broad.mit.edu	37	11	45992812	45992812	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:45992812A>T	uc001ncc.3	-	7	1091	c.467T>A	c.(466-468)ATT>AAT	p.I156N	PHF21A_uc001ncb.3_Missense_Mutation_p.I156N|PHF21A_uc009ykx.2_Missense_Mutation_p.I156N|PHF21A_uc001nce.2_Missense_Mutation_p.I156N|PHF21A_uc001nca.1_Translation_Start_Site	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	156					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						CACCATAGCAATGGTAGGTCT	0.522000												
AGBL2	79841	broad.mit.edu	37	11	47689154	47689154	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:47689154A>C	uc001ngg.2	-	15	2409	c.2309T>G	c.(2308-2310)ATG>AGG	p.M770R	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.M732R	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	770					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						TAACTTCTGCATCAAATTTTT	0.358000												
FNBP4	23360	broad.mit.edu	37	11	47776215	47776215	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:47776215G>A	uc009ylv.2	-	3	468	c.315C>T	c.(313-315)GGC>GGT	p.G105G	FNBP4_uc001ngj.2_Silent_p.G12G|FNBP4_uc001ngl.2_Intron	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	105										ovary(1)	1						AGCATAGACCGCCTAGAAACA	0.358000												
OR8I2	120586	broad.mit.edu	37	11	55860815	55860815	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:55860815T>C	uc010rix.1	+	1	32	c.32T>C	c.(31-33)GTC>GCC	p.V11A		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					GAGGTTACCGTCTTCATCCTC	0.388000												
OR8H3	390152	broad.mit.edu	37	11	55890135	55890135	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:55890135G>A	uc001nii.1	+	1	287	c.287G>A	c.(286-288)GGC>GAC	p.G96D		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					TCCTTCACGGGCTGCTTTGCC	0.443000												
OR5J2	282775	broad.mit.edu	37	11	55944530	55944530	+	Missense_Mutation	SNP	C	C	T	rs138599396	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:55944530C>T	uc010rjb.1	+	1	437	c.437C>T	c.(436-438)ACA>ATA	p.T146I		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					GAGCTTGTCACAGGATCATGG	0.448000												
OR5T2	219464	broad.mit.edu	37	11	55999773	55999773	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:55999773T>C	uc010rjc.1	-	1	889	c.889A>G	c.(889-891)ATG>GTG	p.M297V		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	297	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CTCACATACATGAAGAGGATT	0.428000												
SERPING1	710	broad.mit.edu	37	11	57369521	57369521	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:57369521C>A	uc001nkp.1	+	4	755	c.564C>A	c.(562-564)AAC>AAA	p.N188K	SERPING1_uc001nkq.1_Missense_Mutation_p.N188K|SERPING1_uc010rju.1_Missense_Mutation_p.N136K|SERPING1_uc010rjv.1_Missense_Mutation_p.N193K|SERPING1_uc001nkr.1_Missense_Mutation_p.N188K|SERPING1_uc009ymi.1_Missense_Mutation_p.N188K|SERPING1_uc009ymj.1_Missense_Mutation_p.N188K|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	188					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						CTGGGGAGAACACCAAAACAA	0.557000									Hereditary_Angioedema			
OR10Q1	219960	broad.mit.edu	37	11	57995679	57995679	+	Silent	SNP	G	G	A	rs146817552	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:57995679G>A	uc010rkd.1	-	1	669	c.669C>T	c.(667-669)TAC>TAT	p.Y223Y		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				TGATGAACACGTAGGAGACGC	0.637000												
FAM111B	374393	broad.mit.edu	37	11	58892216	58892216	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:58892216T>G	uc001nnl.2	+	4	889	c.646T>G	c.(646-648)TTG>GTG	p.L216V	FAM111B_uc001nnm.2_Missense_Mutation_p.L186V|FAM111B_uc010rko.1_Missense_Mutation_p.L186V	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	216							catalytic activity			ovary(2)	2						TATTTATGCCTTGAAGGGTGA	0.363000												
OSBP	5007	broad.mit.edu	37	11	59368824	59368824	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:59368824A>G	uc001noc.1	-	5	1536	c.1056T>C	c.(1054-1056)GAT>GAC	p.D352D	OSBP_uc009ymr.1_5'Flank	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	352					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CATCATCTTCATCGCTCATGT	0.393000												
OSBP	5007	broad.mit.edu	37	11	59377902	59377902	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:59377902C>T	uc001noc.1	-	2	1003	c.523G>A	c.(523-525)GCC>ACC	p.A175T		NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	175	PH.				lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGTTCCAGGGCCGTCACCCAG	0.537000												
MS4A5	64232	broad.mit.edu	37	11	60197170	60197170	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:60197170G>T	uc001npo.2	+	1	109	c.23G>T	c.(22-24)AGT>ATT	p.S8I		NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member	8	Cytoplasmic (Potential).					integral to membrane	receptor activity			large_intestine(1)|ovary(1)	2						ACCGCACACAGTCCGGTGTTT	0.433000												
VWCE	220001	broad.mit.edu	37	11	61053785	61053785	+	Splice_Site	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:61053785C>T	uc001nra.2	-	5	820	c.541_splice	c.e5+1	p.D181_splice	VWCE_uc001nrb.2_Splice_Site	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains							extracellular region	calcium ion binding			ovary(1)	1						CTGCAGCTCACCTTGGCAGCT	0.433000												
AHNAK	79026	broad.mit.edu	37	11	62284419	62284419	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:62284419T>C	uc001ntl.2	-	5	17770	c.17470A>G	c.(17470-17472)ACC>GCC	p.T5824A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5824					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CCACCAAAGGTACCGAATTTC	0.547000												
UBXN1	51035	broad.mit.edu	37	11	62445451	62445451	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:62445451G>A	uc001nul.1	-	5	562	c.430C>T	c.(430-432)CGC>TGC	p.R144C	UBXN1_uc001nuj.2_Missense_Mutation_p.R144C|UBXN1_uc001num.1_Missense_Mutation_p.R144C|UBXN1_uc001nuk.2_Missense_Mutation_p.R109C|UBXN1_uc010rme.1_Missense_Mutation_p.R144C|UBXN1_uc010rmf.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	144	Potential.|Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding				0						GCAGCCCGGCGCATCTCATCT	0.567000												
CHRM1	1128	broad.mit.edu	37	11	62677433	62677433	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:62677433C>T	uc001nwi.2	-	2	1541	c.1140G>A	c.(1138-1140)CCG>CCA	p.P380P		NM_000738	NP_000729	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	380	Helical; Name=6; (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding				0					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	TGATGTTGTACGGTGTCCAGG	0.592000												
HRASLS5	117245	broad.mit.edu	37	11	63256439	63256439	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:63256439A>G	uc001nwy.2	-	3	453	c.279T>C	c.(277-279)GCT>GCC	p.A93A	HRASLS5_uc001nwz.2_Silent_p.A83A|HRASLS5_uc010rmq.1_Silent_p.A93A|HRASLS5_uc009yos.2_Intron	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5 isoform 1	93										ovary(1)	1						AGCTAACTACAGCCTTCTCCC	0.373000												
RCOR2	283248	broad.mit.edu	37	11	63680357	63680357	+	Silent	SNP	T	T	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:63680357T>A	uc001nyc.2	-	9	1342	c.954A>T	c.(952-954)CCA>CCT	p.P318P		NM_173587	NP_775858	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)|skin(1)	2						GGGGGCGTAGTGGATCAATAC	0.577000												
FLRT1	23769	broad.mit.edu	37	11	63884462	63884462	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:63884462C>T	uc001nyi.1	+	2	1064	c.723C>T	c.(721-723)GAC>GAT	p.D241D	MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein	213	Extracellular (Potential).|LRR 7.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0						GCATCGCCGACGACACCTTCA	0.662000												
PRDX5	25824	broad.mit.edu	37	11	64087315	64087315	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:64087315G>T	uc001nzu.2	+	2	400	c.281G>T	c.(280-282)GGG>GTG	p.G94V	TRMT112_uc001nzt.2_5'Flank|PRDX5_uc001nzv.2_Missense_Mutation_p.G94V|PRDX5_uc001nzw.2_Intron|PRDX5_uc001nzx.2_RNA	NM_012094	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5 isoform a precursor	94	Thioredoxin.				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)	1					Auranofin(DB00995)	GGAGTTCCTGGGGCCTTCACC	0.552000												
EHD1	10938	broad.mit.edu	37	11	64621945	64621945	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:64621945C>T	uc001obu.1	-	5	1720	c.1465G>A	c.(1465-1467)GAC>AAC	p.D489N	EHD1_uc001obt.1_Missense_Mutation_p.D172N|EHD1_uc001obv.1_Missense_Mutation_p.D489N|EHD1_uc010rnq.1_Missense_Mutation_p.D503N	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	489	EH.|EF-hand.|				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding				0						TTGTCCACGTCGGCCAGCTTC	0.632000												
SCYL1	57410	broad.mit.edu	37	11	65298178	65298178	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:65298178C>T	uc001oea.1	+	7	1005	c.928C>T	c.(928-930)CGG>TGG	p.R310W	SCYL1_uc009yqk.2_Missense_Mutation_p.R310W|SCYL1_uc001oeb.1_Missense_Mutation_p.R310W|SCYL1_uc001oec.1_Missense_Mutation_p.R310W|SCYL1_uc001oed.1_Missense_Mutation_p.R167W|SCYL1_uc001oee.1_5'UTR	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	310	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						GGATTTCTGTCGGCACAAGGT	0.597000												
PCNXL3	399909	broad.mit.edu	37	11	65396147	65396147	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:65396147G>A	uc001oey.2	+	23	3784	c.3784G>A	c.(3784-3786)GCT>ACT	p.A1262T	PCNXL3_uc001oez.2_Missense_Mutation_p.A149T	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1262	Helical; (Potential).					integral to membrane					0						GGCTTTCCACGCTTTTGCCCA	0.657000												
RIN1	9610	broad.mit.edu	37	11	66102465	66102465	+	Missense_Mutation	SNP	C	C	T	rs141270180	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:66102465C>T	uc001ohn.1	-	6	932	c.805G>A	c.(805-807)GTG>ATG	p.V269M	RIN1_uc010roy.1_Translation_Start_Site|RIN1_uc009yrd.1_Translation_Start_Site|RIN1_uc010roz.1_Missense_Mutation_p.V164M|RIN1_uc010rpa.1_Missense_Mutation_p.V164M	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	269					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						CCTGGCAGCACGGGGACGGGG	0.667000												
KDM2A	22992	broad.mit.edu	37	11	67020972	67020972	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:67020972C>T	uc001ojw.2	+	19	3845	c.2981C>T	c.(2980-2982)GCC>GTC	p.A994V	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.A688V|KDM2A_uc001ojz.1_Missense_Mutation_p.A452V|KDM2A_uc001oka.2_Missense_Mutation_p.A118V	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	994	LRR 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						GCAGTCTCTGCCCTCAGCACC	0.537000												
CABP4	57010	broad.mit.edu	37	11	67225877	67225877	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:67225877G>T	uc001olo.2	+	5	764	c.687G>T	c.(685-687)GCG>GCT	p.A229A	CABP4_uc001oln.2_Silent_p.A124A	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	229	EF-hand 3.|2 (Potential).				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TTACGGTGGCGGAGCTGCGGG	0.647000												
UNC93B1	81622	broad.mit.edu	37	11	67766761	67766761	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:67766761T>C	uc001omw.1	-	5	649	c.569A>G	c.(568-570)TAC>TGC	p.Y190C		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1	190					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome					0						GTACTCATGGTACTTCTGCGC	0.627000												
MRGPRD	116512	broad.mit.edu	37	11	68747812	68747812	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:68747812T>C	uc010rqf.1	-	1	644	c.644A>G	c.(643-645)CAG>CGG	p.Q215R		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	215	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCGTGTGGGCTGCCGCCGCCA	0.612000												
TPCN2	219931	broad.mit.edu	37	11	68822754	68822754	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:68822754C>A	uc001oos.2	+	4	479	c.363C>A	c.(361-363)CCC>CCA	p.P121P	TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Silent_p.P121P	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	121	Extracellular (Potential).				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGGAGCCGCCCTGCGGCCTGA	0.642000												
TRIM49	57093	broad.mit.edu	37	11	89537482	89537482	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:89537482G>A	uc001pdb.2	-	3	485	c.156C>T	c.(154-156)TGC>TGT	p.C52C		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	ring finger protein 18	52	RING-type.					intracellular	zinc ion binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGCATTCAGAGCACTGGACAA	0.458000												
CCDC67	159989	broad.mit.edu	37	11	93148249	93148249	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:93148249C>A	uc001pdq.2	+	13	1707	c.1607C>A	c.(1606-1608)CCT>CAT	p.P536H	CCDC67_uc001pdo.1_Missense_Mutation_p.P536H	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	536										ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ATGACAAGTCCTTTGGTTAGT	0.398000												
MAML2	84441	broad.mit.edu	37	11	95724810	95724810	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:95724810A>T	uc001pfw.1	-	3	3502	c.2217T>A	c.(2215-2217)AGT>AGA	p.S739R		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	739					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCATGTAACCACTTCCAGTGT	0.483000			T	MECT1|CRTC3	salivary gland mucoepidermoid							
CASP5	838	broad.mit.edu	37	11	104878019	104878019	+	Missense_Mutation	SNP	A	A	G	rs45585331	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:104878019A>G	uc010rva.1	-	3	256	c.224T>C	c.(223-225)CTG>CCG	p.L75P	CASP5_uc010ruz.1_Missense_Mutation_p.L88P|CASP5_uc010rvb.1_Missense_Mutation_p.L17P|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_Intron	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	75	CARD.		L -> R.		apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ATCTTTGCCCAGGTATTCCAA	0.338000												
ALKBH8	91801	broad.mit.edu	37	11	107427670	107427670	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:107427670C>T	uc010rvr.1	-	3	264	c.189G>A	c.(187-189)CCG>CCA	p.P63P	ALKBH8_uc010rvq.1_5'UTR|ALKBH8_uc009yxp.2_Silent_p.P63P|ALKBH8_uc001pjl.2_RNA	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8	63	RRM.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TCTCTAAAACCGGGAGCAGCT	0.428000												
DDX10	1662	broad.mit.edu	37	11	108811067	108811067	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:108811067G>T	uc001pkm.2	+	18	2610	c.2545G>T	c.(2545-2547)GAC>TAC	p.D849Y		NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	849							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GGCCAGGTGGGACACTTTAGA	0.488000			T	NUP98	AML*							
RBM7	10179	broad.mit.edu	37	11	114278448	114278448	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:114278448G>T	uc001pov.2	+	5	730	c.720G>T	c.(718-720)AGG>AGT	p.R240S	RBM7_uc001pow.2_Missense_Mutation_p.R241S|RBM7_uc001pox.2_Missense_Mutation_p.R120S	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	240					meiosis		nucleotide binding|protein binding|RNA binding			ovary(2)	2		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		ATGAAGACAGGAATCATGATG	0.418000												
FAM55A	120400	broad.mit.edu	37	11	114392799	114392799	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:114392799C>T	uc001ppa.2	-	6	1526	c.1109G>A	c.(1108-1110)GGC>GAC	p.G370D	FAM55A_uc010rxd.1_Missense_Mutation_p.G219D	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	512						extracellular region					0		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;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		ATCAATGATGCCCACGTTGAG	0.413000												
ZNF259	8882	broad.mit.edu	37	11	116655132	116655132	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:116655132C>T	uc001ppp.2	-	9	886	c.853G>A	c.(853-855)GCT>ACT	p.A285T	ZNF259_uc009yzd.2_Missense_Mutation_p.A285T|ZNF259_uc001ppq.2_Missense_Mutation_p.A215T	NM_003904	NP_003895	O75312	ZPR1_HUMAN	zinc finger protein 259	285	C4-type 2.				cell proliferation|signal transduction	cytoplasm|nucleolus					0	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CAGTTGGTAGCCATGATGATA	0.473000												
RNF214	257160	broad.mit.edu	37	11	117152818	117152818	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:117152818G>A	uc001pqt.2	+	11	1589	c.1544G>A	c.(1543-1545)GGT>GAT	p.G515D	RNF214_uc001pqu.2_Missense_Mutation_p.G515D|RNF214_uc010rxf.1_Missense_Mutation_p.G360D	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	515	Pro-rich.						zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CCTGGCTTGGGTTCCCTTGTC	0.637000												
SCN2B	6327	broad.mit.edu	37	11	118038845	118038845	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:118038845G>A	uc001psf.2	-	3	594	c.403C>T	c.(403-405)CGC>TGC	p.R135C		NM_004588	NP_004579	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta	135	Ig-like C2-type.|Extracellular (Potential).				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		CCACGGTGGCGGTCAGGGGGG	0.597000												
CXCR5	643	broad.mit.edu	37	11	118765004	118765004	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:118765004C>T	uc001pue.3	+	2	861	c.751C>T	c.(751-753)CGC>TGC	p.R251C	CXCR5_uc001puf.2_Missense_Mutation_p.R206C	NM_001716	NP_001707	P32302	CXCR5_HUMAN	Burkitt lymphoma receptor 1 isoform 1	251	Cytoplasmic (Potential).				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GGCCCAGCGGCGCCCTCAGCG	0.622000												
VPS11	55823	broad.mit.edu	37	11	118951928	118951928	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:118951928T>C	uc010ryx.1	+	16	2607	c.2565T>C	c.(2563-2565)GCT>GCC	p.A855A	VPS11_uc010ryy.1_Silent_p.A701A	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	855	RING-type.				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AAAGTGATGCTGACTGCCCCA	0.537000												
OAF	220323	broad.mit.edu	37	11	120097609	120097609	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:120097609G>T	uc001pxb.2	+	3	692	c.451G>T	c.(451-453)GGG>TGG	p.G151W		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	151											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CTTCAGCCAGGGGGCCCTGCT	0.627000												
ARHGEF12	23365	broad.mit.edu	37	11	120350878	120350878	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:120350878T>C	uc001pxl.1	+	38	3983	c.3976T>C	c.(3976-3978)TAC>CAC	p.Y1326H	ARHGEF12_uc009zat.2_Missense_Mutation_p.Y1307H|ARHGEF12_uc009zau.1_Missense_Mutation_p.Y1223H	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1326					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGCAACTTGTTACAGTCCACG	0.453000			T	MLL	AML							
BSX	390259	broad.mit.edu	37	11	122848567	122848567	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:122848567C>T	uc010rzs.1	-	3	492	c.492G>A	c.(490-492)AAG>AAA	p.K164K		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	164	Homeobox.										0		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCTTTTTATGCTTCATCCGCC	0.552000												
OR10S1	219873	broad.mit.edu	37	11	123847892	123847892	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:123847892G>A	uc001pzm.1	-	1	507	c.507C>T	c.(505-507)CAC>CAT	p.H169H		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S,	169	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGATTGCAGCGTGCGTGGCAC	0.567000												
VWA5A	4013	broad.mit.edu	37	11	123988930	123988930	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:123988930G>A	uc001pzu.2	+	5	490	c.281G>A	c.(280-282)GGC>GAC	p.G94D	VWA5A_uc001pzr.2_Missense_Mutation_p.G94D|VWA5A_uc001pzs.2_Missense_Mutation_p.G94D|VWA5A_uc010sae.1_Missense_Mutation_p.G110D|VWA5A_uc001pzt.2_Missense_Mutation_p.G94D	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	94	VIT.									upper_aerodigestive_tract(1)|ovary(1)	2						ATCTCCCAGGGCCACCAGGCC	0.567000												
OR8B4	283162	broad.mit.edu	37	11	124294398	124294398	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:124294398C>T	uc010sak.1	-	1	370	c.370G>A	c.(370-372)GCC>ACC	p.A124T		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGCAGATGGCCACATAGCGA	0.478000												
FEZ1	9638	broad.mit.edu	37	11	125330437	125330437	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:125330437C>T	uc001qbx.2	-	5	776	c.624G>A	c.(622-624)ATG>ATA	p.M208I	FEZ1_uc010sbc.1_Missense_Mutation_p.M179I	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	zygin 1 isoform 1	208					axon guidance|cell adhesion|transport	microtubule|plasma membrane				central_nervous_system(3)|ovary(1)	4	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TCAATGCCTGCATCTCCTGCA	0.597000												
DDX25	29118	broad.mit.edu	37	11	125778397	125778397	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:125778397A>G	uc001qcz.3	+	6	647	c.506A>G	c.(505-507)CAG>CGG	p.Q169R	DDX25_uc010sbk.1_Missense_Mutation_p.Q169R	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 25	169	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TTGTTCCCACAGGTAAGGGAA	0.453000												
KIRREL3	84623	broad.mit.edu	37	11	126306785	126306785	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:126306785G>A	uc001qea.2	-	12	1834	c.1473C>T	c.(1471-1473)GCC>GCT	p.A491A	KIRREL3_uc001qeb.2_Silent_p.A491A|KIRREL3_uc001qec.1_Silent_p.A491A|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	491	Extracellular (Potential).|Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCTGGAAGTCGGCCCGCACGA	0.612000												
APLP2	334	broad.mit.edu	37	11	130013273	130013273	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:130013273A>G	uc010sby.1	+	18	2379	c.2222A>G	c.(2221-2223)CAC>CGC	p.H741R	APLP2_uc001qfp.2_Missense_Mutation_p.H729R|APLP2_uc001qfq.2_Missense_Mutation_p.H673R|APLP2_uc010sbz.1_Missense_Mutation_p.H529R|APLP2_uc001qfr.2_Missense_Mutation_p.H495R|APLP2_uc001qfs.2_Missense_Mutation_p.H500R|APLP2_uc001qfv.2_Missense_Mutation_p.H632R|APLP2_uc009zcv.2_Missense_Mutation_p.H89R	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	741	Cytoplasmic (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GAAGAGCGTCACCTGAACAAG	0.557000												
ADAMTS8	11095	broad.mit.edu	37	11	130278368	130278368	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:130278368G>A	uc001qgg.3	-	8	2448	c.2090C>T	c.(2089-2091)ACC>ATC	p.T697I	ADAMTS8_uc001qgf.2_Missense_Mutation_p.T178I	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	697	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTTGGTGGGGGTGAGGGACCC	0.448000												
NCAPD3	23310	broad.mit.edu	37	11	134037945	134037945	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:134037945G>A	uc001qhd.1	-	27	4125	c.3519C>T	c.(3517-3519)GAC>GAT	p.D1173D	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA|NCAPD3_uc001qhc.1_Silent_p.D123D	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1173					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)		CCAAGGCCATGTCATCTTCTT	0.453000												
VPS26B	112936	broad.mit.edu	37	11	134104900	134104900	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:134104900C>T	uc001qhe.2	+	2	789	c.333C>T	c.(331-333)CAC>CAT	p.H111H		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	111					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		AGTTTACCCACGTGGAGAAGC	0.567000												
ACAD8	27034	broad.mit.edu	37	11	134131231	134131231	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:134131231C>T	uc001qhk.2	+	8	965	c.904C>T	c.(904-906)CGG>TGG	p.R302W	ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Missense_Mutation_p.R225W|ACAD8_uc001qhl.2_Missense_Mutation_p.R175W	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	acyl-Coenzyme A dehydrogenase family, member 8	302		FAD; shared with dimeric partner.	R -> Q (in IBDD; complete loss of activity).		branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding				0	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CCTCAATGTCCGGAAGCAGTT	0.612000												
CCDC77	84318	broad.mit.edu	37	12	520943	520943	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:520943C>T	uc001qig.2	+	4	249	c.69C>T	c.(67-69)GCC>GCT	p.A23A	CCDC77_uc009zdk.2_5'UTR|CCDC77_uc010sdp.1_5'UTR|CCDC77_uc010sdq.1_5'UTR	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77 isoform a	23						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)			GTGGTGTTGCCGTCAGTGGTC	0.468000												
ERC1	23085	broad.mit.edu	37	12	1137726	1137726	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:1137726G>T	uc001qjb.2	+	2	898	c.657G>T	c.(655-657)CAG>CAT	p.Q219H	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.Q219H|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.Q219H	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	219	Potential.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAGTTGTACAGGAGGAAAACC	0.408000												
FGF6	2251	broad.mit.edu	37	12	4553334	4553334	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:4553334C>T	uc001qmr.1	-	2	459	c.415G>A	c.(415-417)GTT>ATT	p.V139I		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	139					angiogenesis|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	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TTCATGGCAACGAAGAGGGCA	0.512000												
KCNA1	3736	broad.mit.edu	37	12	5021140	5021140	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:5021140C>T	uc001qnh.2	+	2	1701	c.596C>T	c.(595-597)ACG>ATG	p.T199M		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	199					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGGACTTCACGGGCACCGTC	0.542000												
LPCAT3	10162	broad.mit.edu	37	12	7087667	7087667	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:7087667T>G	uc001qsi.2	-	9	990	c.876A>C	c.(874-876)GAA>GAC	p.E292D	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Missense_Mutation_p.E186D|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Missense_Mutation_p.E150D	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	292	Helical; (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			ovary(1)	1						TGCATACTCCTTCCTGAGAGG	0.488000												
RBP5	83758	broad.mit.edu	37	12	7277310	7277310	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:7277310T>C	uc001qsq.2	-	3	364	c.269A>G	c.(268-270)GAG>GGG	p.E90G		NM_031491	NP_113679	P82980	RET5_HUMAN	retinol binding protein 5, cellular	90						cytoplasm	retinal binding|retinol binding|transporter activity			ovary(1)	1					Vitamin A(DB00162)	GTGCTCCTCCTCCCAGGTTAC	0.552000												
CLSTN3	9746	broad.mit.edu	37	12	7310180	7310180	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:7310180C>T	uc001qsr.2	+	17	2901	c.2623C>T	c.(2623-2625)CGC>TGC	p.R875C	CLSTN3_uc001qss.2_Missense_Mutation_p.R887C|CLSTN3_uc001qst.2_Missense_Mutation_p.R283C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	875	Cytoplasmic (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						TTCCCTTCACCGCCGCGTCTC	0.637000												
NECAP1	25977	broad.mit.edu	37	12	8242847	8242847	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:8242847G>A	uc001qtx.2	+	3	331	c.253G>A	c.(253-255)GTG>ATG	p.V85M	NECAP1_uc001qty.2_Translation_Start_Site	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	85					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				ovary(1)	1				Kidney(36;0.0915)		TGTGGAGACGGTGACAGATTC	0.448000												
LOH12CR1	118426	broad.mit.edu	37	12	12514140	12514140	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:12514140T>C	uc001ral.2	+	2	425	c.59T>C	c.(58-60)GTG>GCG	p.V20A	LOH12CR1_uc009zhu.2_Intron	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	20										ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		TTATTTTCAGTGACTCCTTCA	0.433000												
DUSP16	80824	broad.mit.edu	37	12	12630724	12630724	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:12630724T>C	uc001rao.1	-	7	1673	c.1041A>G	c.(1039-1041)TCA>TCG	p.S347S	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Silent_p.S199S	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	347					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTGCTGCCTCTGAGGTAGCAG	0.532000												
DDX47	51202	broad.mit.edu	37	12	12974263	12974263	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:12974263T>C	uc001rav.2	+	6	901	c.303T>C	c.(301-303)ACT>ACC	p.T101T	DDX47_uc009zhw.1_Silent_p.T101T|DDX47_uc001rax.2_Silent_p.T101T|DDX47_uc001ray.2_Silent_p.T101T|DDX47_uc010shn.1_Silent_p.T101T	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	101	Helicase ATP-binding.					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding				0		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TTACCCCGACTCGGGAGCTGG	0.547000												
DDX47	51202	broad.mit.edu	37	12	12974623	12974623	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:12974623A>G	uc001rav.2	+	7	1003	c.405A>G	c.(403-405)CAA>CAG	p.Q135Q	DDX47_uc009zhw.1_Silent_p.Q135Q|DDX47_uc001rax.2_Silent_p.Q135Q|DDX47_uc001ray.2_Silent_p.Q135Q|DDX47_uc010shn.1_3'UTR	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	135	Helicase ATP-binding.					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding				0		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CAATGTCTCAATCTTTGGCCC	0.363000												
ERP27	121506	broad.mit.edu	37	12	15091448	15091448	+	Translation_Start_Site	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:15091448C>A	uc001rco.2	-	1	16	c.-5G>T	c.(-7--3)GAGGG>GATGG			NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27 kDa precursor							endoplasmic reticulum lumen				breast(1)	1						TCCATTGTCCCTCTCCTGCTC	0.493000												
TSPAN11	441631	broad.mit.edu	37	12	31136068	31136068	+	Missense_Mutation	SNP	G	G	A	rs140179345	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:31136068G>A	uc010sju.1	+	7	1065	c.685G>A	c.(685-687)GGG>AGG	p.G229R	TSPAN11_uc001rjp.2_Missense_Mutation_p.G229R|TSPAN11_uc010sjv.1_Missense_Mutation_p.G219R	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	tetraspanin 11	229	Helical; (Potential).					integral to membrane					0	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGTGGGCATCGGGGTGGCCTG	0.632000												
SYT10	341359	broad.mit.edu	37	12	33535371	33535371	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:33535371G>T	uc001rll.1	-	5	1580	c.1283C>A	c.(1282-1284)CCT>CAT	p.P428H	SYT10_uc009zju.1_Missense_Mutation_p.P238H	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	428	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATTGTACACAGGGTTTAGAGT	0.413000												
ARID2	196528	broad.mit.edu	37	12	46211518	46211518	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:46211518G>T	uc001ros.1	+	5	484	c.484G>T	c.(484-486)GTG>TTG	p.V162L	ARID2_uc001ror.2_Missense_Mutation_p.V162L	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	162					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)		TAATAAATTGGTGCTTTCACT	0.348000												
SLC38A2	54407	broad.mit.edu	37	12	46761057	46761057	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:46761057A>G	uc001rpg.2	-	5	821	c.381T>C	c.(379-381)AAT>AAC	p.N127N	SLC38A2_uc010sli.1_5'Flank|SLC38A2_uc001rph.2_Silent_p.N27N	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	127	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)		TACCTCCTTCATTGGCAGTCT	0.333000												
FAM113B	91523	broad.mit.edu	37	12	47630075	47630075	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:47630075C>T	uc001rpn.2	+	4	1960	c.1229C>T	c.(1228-1230)ACG>ATG	p.T410M	FAM113B_uc001rpq.2_Missense_Mutation_p.T410M	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	410	Pro-rich.						hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					GGCCCCTATACGCCCTGGGGA	0.592000												
NCKAP5L	57701	broad.mit.edu	37	12	50186659	50186659	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:50186659G>A	uc009zlk.2	-	11	3653	c.3451C>T	c.(3451-3453)CGG>TGG	p.R1151W	NCKAP5L_uc001rvc.3_Missense_Mutation_p.R355W|NCKAP5L_uc001rvb.2_Missense_Mutation_p.R744W	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1147	Pro-rich.									central_nervous_system(1)	1						GGATCCAGCCGCGGTGGCTTG	0.647000												
SLC4A8	9498	broad.mit.edu	37	12	51856144	51856144	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:51856144G>A	uc001rys.1	+	10	1330	c.1152G>A	c.(1150-1152)GCG>GCA	p.A384A	SLC4A8_uc010sni.1_Silent_p.A331A|SLC4A8_uc001rym.2_Silent_p.A331A|SLC4A8_uc001ryn.2_Silent_p.A331A|SLC4A8_uc001ryo.2_Silent_p.A331A|SLC4A8_uc001ryp.1_3'UTR|SLC4A8_uc010snj.1_Silent_p.A411A|SLC4A8_uc001ryq.3_Silent_p.A384A|SLC4A8_uc001ryr.2_Silent_p.A384A|SLC4A8_uc010snk.1_Silent_p.A331A	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	384	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATCTCCTGGCGGGGATTGATG	0.458000												
ACVR1B	91	broad.mit.edu	37	12	52385715	52385715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:52385715C>T	uc001rzn.2	+	8	1372	c.1330C>T	c.(1330-1332)CGA>TGA	p.R444*	ACVR1B_uc001rzm.2_Nonsense_Mutation_p.R444*|ACVR1B_uc010snn.1_Nonsense_Mutation_p.R485*	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	444	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.R485*(1)		pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TGAGGAAATGCGAAAGGTTGT	0.488000												
C12orf44	60673	broad.mit.edu	37	12	52470862	52470862	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:52470862T>C	uc001rzu.3	+	4	1020	c.545T>C	c.(544-546)TTG>TCG	p.L182S	C12orf44_uc009zmd.2_Missense_Mutation_p.L182S|uc009zme.1_5'Flank	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN	Atg13-interacting protein	182					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0978)		GACACAGGCTTGCGGGACGTG	0.547000												
KRT6A	3853	broad.mit.edu	37	12	52881626	52881626	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:52881626C>A	uc001sam.2	-	9	1782	c.1573G>T	c.(1573-1575)GGT>TGT	p.G525C		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	525	Tail.				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)		CTGAAGCCACCTCCAACGCCA	0.617000												
KRT79	338785	broad.mit.edu	37	12	53227574	53227574	+	Silent	SNP	G	G	A	rs151245582		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:53227574G>A	uc001sbb.2	-	1	504	c.471C>T	c.(469-471)ATC>ATT	p.I157I		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	157	Rod.|Coil 1A.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						CCACCTTGTCGATGAAGGAGG	0.602000												
CSAD	51380	broad.mit.edu	37	12	53565712	53565712	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:53565712C>T	uc001sby.2	-	6	531	c.405G>A	c.(403-405)CTG>CTA	p.L135L	CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Silent_p.L162L|CSAD_uc001sbz.2_Silent_p.L135L|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_Silent_p.L135L	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	135					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCAGGGCCCGCAGTTTCCTCA	0.557000									Hereditary_Prostate_Cancer			
ITGA5	3678	broad.mit.edu	37	12	54812816	54812816	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:54812816G>A	uc001sga.2	-	1	235	c.167C>T	c.(166-168)CCG>CTG	p.P56L	ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	56	Extracellular (Potential).|FG-GAP 1.				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2						GAAGGAGCCCGGGGGCCCCGA	0.562000												
DNAJC14	85406	broad.mit.edu	37	12	56222358	56222358	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:56222358C>T	uc001shx.1	-	2	289	c.85G>A	c.(85-87)GTG>ATG	p.V29M	DNAJC14_uc001shu.1_Missense_Mutation_p.V29M|DNAJC14_uc009zob.1_Missense_Mutation_p.V29M|DNAJC14_uc001shy.1_Missense_Mutation_p.V29M	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	29					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						TCAGGGTCCACGGAGGGTCCT	0.592000												
SILV	6490	broad.mit.edu	37	12	56355192	56355192	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:56355192A>G	uc001sip.2	-	3	274	c.243T>C	c.(241-243)AAT>AAC	p.N81N	SILV_uc001siq.2_Silent_p.N81N|SILV_uc010spx.1_Intron|SILV_uc001sir.2_Silent_p.N81N	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	81					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						AGAAGGAGGCATTTGCACCAA	0.498000												
ESYT1	23344	broad.mit.edu	37	12	56527633	56527633	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:56527633C>T	uc001sjq.2	+	13	1499	c.1449C>T	c.(1447-1449)TAC>TAT	p.Y483Y	ESYT1_uc001sjr.2_Silent_p.Y483Y	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	483	C2 2.					integral to membrane				ovary(4)|skin(1)	5						TAGTTGTCTACCTGGATCGGG	0.557000												
PAN2	9924	broad.mit.edu	37	12	56717366	56717366	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:56717366A>G	uc001skx.2	-	15	2574	c.2201T>C	c.(2200-2202)ATC>ACC	p.I734T	PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Missense_Mutation_p.I733T|PAN2_uc001sky.2_Missense_Mutation_p.I730T	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	734					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						CAGATGGCGGATGTTGCGGGT	0.483000												
GLS2	27165	broad.mit.edu	37	12	56868363	56868363	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:56868363C>T	uc001slj.2	-	12	1468	c.1189G>A	c.(1189-1191)GGC>AGC	p.G397S	GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.G132S|GLS2_uc009zot.2_Missense_Mutation_p.G58S	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	glutaminase 2 precursor	397					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			ovary(1)|central_nervous_system(1)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCATACATGCCGCAGGAATGC	0.567000												
BAZ2A	11176	broad.mit.edu	37	12	57009170	57009170	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:57009170G>T	uc001slq.1	-	3	558	c.364C>A	c.(364-366)CCA>ACA	p.P122T	BAZ2A_uc001slp.1_Missense_Mutation_p.P120T|BAZ2A_uc010sqr.1_Missense_Mutation_p.P122T|BAZ2A_uc009zow.1_Missense_Mutation_p.P120T	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	122					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						CCGTTGAGTGGGTATTGTCCC	0.577000												
LRP1	4035	broad.mit.edu	37	12	57600317	57600317	+	Silent	SNP	C	C	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:57600317C>G	uc001snd.2	+	76	12118	c.11652C>G	c.(11650-11652)GGC>GGG	p.G3884G		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3884	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTTCCCCGGCCACCCCCATT	0.587000												
GLI1	2735	broad.mit.edu	37	12	57858503	57858503	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:57858503C>T	uc001snx.2	+	4	319	c.241C>T	c.(241-243)CGG>TGG	p.R81W	GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_5'UTR|GLI1_uc009zpr.1_RNA	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	81					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			GACCAAGAAGCGGGCACTGTC	0.582000												
TRHDE	29953	broad.mit.edu	37	12	72667121	72667121	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:72667121C>T	uc001sxa.2	+	1	593	c.563C>T	c.(562-564)GCG>GTG	p.A188V	LOC283392_uc010stv.1_5'UTR	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	188	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						TCCCGAGTGGCGGTGGAGAAA	0.627000												
ATP2B1	490	broad.mit.edu	37	12	90035958	90035958	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:90035958T>C	uc001tbh.2	-	2	564	c.383A>G	c.(382-384)CAG>CGG	p.Q128R	ATP2B1_uc001tbg.2_Missense_Mutation_p.Q128R	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	128	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TTCTGGAGGCTGATAAAAAGA	0.343000												
USP44	84101	broad.mit.edu	37	12	95927734	95927734	+	Missense_Mutation	SNP	C	C	T	rs144639311		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:95927734C>T	uc001teg.2	-	2	443	c.299G>A	c.(298-300)CGT>CAT	p.R100H	USP44_uc001teh.2_Missense_Mutation_p.R100H|USP44_uc009zte.2_Missense_Mutation_p.R97H	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	100					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)|breast(1)|central_nervous_system(1)	3						ACTTAATGTACGTCGTAGTAA	0.388000												
UTP20	27340	broad.mit.edu	37	12	101693522	101693522	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:101693522A>G	uc001tia.1	+	13	1649	c.1493A>G	c.(1492-1494)GAC>GGC	p.D498G		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	498					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						CCAGTATTGGACCATCTTTTA	0.338000												
SELPLG	6404	broad.mit.edu	37	12	109017078	109017078	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:109017078C>T	uc001tni.2	-	2	1166	c.1006G>A	c.(1006-1008)GTG>ATG	p.V336M	SELPLG_uc001tnh.2_Missense_Mutation_p.V326M|SELPLG_uc010sxe.1_Missense_Mutation_p.V352M	NM_003006	NP_002997	Q14242	SELPL_HUMAN	selectin P ligand	336	Helical; (Potential).				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding				0						ACAGTGCACACGAAGAAGATA	0.592000												
MVK	4598	broad.mit.edu	37	12	110032921	110032921	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:110032921G>A	uc001toy.3	+	10	1158	c.974G>A	c.(973-975)CGC>CAC	p.R325H	MVK_uc009zvk.2_Missense_Mutation_p.R325H|MVK_uc010sxr.1_Missense_Mutation_p.R273H|MVK_uc001toz.3_Missense_Mutation_p.R131H|MVK_uc001tpc.3_RNA	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	mevalonate kinase	325					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0						ACCAGGGCCCGCGGACTTCAC	0.647000												
MYL2	4633	broad.mit.edu	37	12	111348947	111348947	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:111348947G>A	uc001try.3	-	7	506	c.435C>T	c.(433-435)GAC>GAT	p.D145D	MYL2_uc001trx.3_Silent_p.D126D	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	145	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						TGCCAGTCACGTCAGGGGGGA	0.612000												
ATXN2	6311	broad.mit.edu	37	12	111907981	111907981	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:111907981C>T	uc001tsj.2	-	20	3409	c.3247G>A	c.(3247-3249)GCC>ACC	p.A1083T	ATXN2_uc001tsh.2_Missense_Mutation_p.A818T|ATXN2_uc001tsi.2_Missense_Mutation_p.A794T|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.A271T|ATXN2_uc001tsl.1_Missense_Mutation_p.A102T	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1083	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						CCAGGCTGGGCGTGTGTTGGT	0.443000												
ATXN2	6311	broad.mit.edu	37	12	111990178	111990178	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:111990178C>T	uc001tsj.2	-	5	1119	c.957G>A	c.(955-957)CCG>CCA	p.P319P	ATXN2_uc001tsh.2_Silent_p.P54P|ATXN2_uc001tsi.2_Silent_p.P30P|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Silent_p.P54P	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	319					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						CTTCACGTTTCGGCCCCGAAC	0.373000												
C12orf51	283450	broad.mit.edu	37	12	112674831	112674831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:112674831G>A	uc009zwc.2	-	28	4114	c.4096C>T	c.(4096-4098)CGA>TGA	p.R1366*		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TCTGTGGCTCGGGCAAGATGG	0.537000												
PTPN11	5781	broad.mit.edu	37	12	112926888	112926888	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:112926888G>T	uc001ttx.2	+	13	1888	c.1508G>T	c.(1507-1509)GGG>GTG	p.G503V		NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	507	Tyrosine-protein phosphatase.		G -> A (in JMML).|G -> R (in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.G503A(14)|p.G503V(8)|p.G503E(2)|p.G503L(1)|p.G503R(1)		haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392						CAGAGGTCAGGGATGGTCCAG	0.468000			Mis		JMML|AML|MDS		Noonan Syndrome		Noonan_syndrome			
SUDS3	64426	broad.mit.edu	37	12	118841254	118841254	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:118841254C>T	uc001twz.2	+	10	874	c.735C>T	c.(733-735)CCC>CCT	p.P245P		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3	245					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCAACACCCGCGGAATCTC	0.463000												
GPR109A	338442	broad.mit.edu	37	12	123187766	123187766	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:123187766C>T	uc001ucx.1	-	1	139	c.65G>A	c.(64-66)CGA>CAA	p.R22Q	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	22	Extracellular (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	GAAGTCATCTCGGAACACACA	0.532000												
NCOR2	9612	broad.mit.edu	37	12	124950800	124950800	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:124950800G>A	uc010tba.1	-	5	741	c.624C>T	c.(622-624)CCC>CCT	p.P208P	NCOR2_uc010tay.1_Silent_p.P208P|NCOR2_uc010taz.1_Silent_p.P208P|NCOR2_uc010tbb.1_Silent_p.P208P|NCOR2_uc010tbc.1_Silent_p.P208P|NCOR2_uc001ugj.1_Silent_p.P208P|NCOR2_uc001ugk.1_Silent_p.P208P	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	208	Potential.				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)		TCTCAGGCTCGGGCGGCTTGG	0.677000												
EP400	57634	broad.mit.edu	37	12	132474611	132474611	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:132474611G>A	uc001ujn.2	+	7	2547	c.2512G>A	c.(2512-2514)GCC>ACC	p.A838T	EP400_uc001ujl.2_Missense_Mutation_p.A837T|EP400_uc001ujm.2_Missense_Mutation_p.A838T|EP400_uc001ujj.1_Missense_Mutation_p.A801T|EP400_uc001ujk.2_Missense_Mutation_p.A874T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	874					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGCCTCCACGGCCCGGGAGAT	0.567000												
DDX51	317781	broad.mit.edu	37	12	132624231	132624231	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:132624231C>T	uc001ujy.3	-	14	1962	c.1923G>A	c.(1921-1923)CCG>CCA	p.P641P		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	641					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GAGGAACCAGCGGCTGCAGCA	0.607000												
RNF17	56163	broad.mit.edu	37	13	25399806	25399806	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:25399806A>G	uc001upr.2	+	16	2182	c.2141A>G	c.(2140-2142)TAT>TGT	p.Y714C	RNF17_uc010tdd.1_Missense_Mutation_p.Y573C|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.Y714C|RNF17_uc001ups.2_Missense_Mutation_p.Y653C	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	714					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAGGAATTCTATAAAAGTGAA	0.343000												
FAM123A	219287	broad.mit.edu	37	13	25744142	25744142	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:25744142C>G	uc001uqb.2	-	1	1716	c.1616G>C	c.(1615-1617)AGC>ACC	p.S539T	FAM123A_uc001uqa.2_Missense_Mutation_p.S420T|FAM123A_uc001uqc.2_Missense_Mutation_p.S420T	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	539										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTTCTTCCCGCTGCTCGAGCT	0.652000												
SLC46A3	283537	broad.mit.edu	37	13	29284952	29284952	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:29284952C>T	uc001usi.2	-	3	2059	c.1089G>A	c.(1087-1089)GTG>GTA	p.V363V	SLC46A3_uc001usg.2_Silent_p.V288V|SLC46A3_uc001usj.2_Silent_p.V363V|SLC46A3_uc001ush.2_Silent_p.V363V|SLC46A3_uc001usk.2_3'UTR	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3 isoform a	363	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)|skin(1)	2		Lung SC(185;0.0367)		all cancers(112;0.159)		CAGAGAATGGCACAATAGTGA	0.388000												
MTUS2	23281	broad.mit.edu	37	13	29600876	29600876	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:29600876G>A	uc001usl.3	+	1	2129	c.2071G>A	c.(2071-2073)GAA>AAA	p.E691K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	681	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.E691K(1)			0						TCTTCCCCACGAAGAGAAGGC	0.582000												
MTUS2	23281	broad.mit.edu	37	13	30072657	30072657	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:30072657C>T	uc001usl.3	+	12	3869	c.3811C>T	c.(3811-3813)CTT>TTT	p.L1271F	MTUS2_uc001usm.3_Missense_Mutation_p.L240F|MTUS2_uc010aau.2_Missense_Mutation_p.L150F|MTUS2_uc010tdq.1_Missense_Mutation_p.L23F	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	1261	Potential.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						AAAGAAGATTCTTGAGCTGGA	0.443000												
BRCA2	675	broad.mit.edu	37	13	32906658	32906658	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:32906658T>C	uc001uub.1	+	10	1270	c.1043T>C	c.(1042-1044)GTG>GCG	p.V348A	BRCA2_uc001uua.1_Missense_Mutation_p.V225A	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	348					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAACCAAGTGAAAGAAAAA	0.328000			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)		
KL	9365	broad.mit.edu	37	13	33591317	33591317	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:33591317G>A	uc001uus.2	+	1	747	c.739G>A	c.(739-741)GGC>AGC	p.G247S	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	247	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)		GGCCTGGCACGGCTACGCCAC	0.692000												
NBEA	26960	broad.mit.edu	37	13	36026370	36026370	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:36026370C>T	uc001uvb.2	+	40	6652	c.6446C>T	c.(6445-6447)GCA>GTA	p.A2149V	NBEA_uc010abi.2_Missense_Mutation_p.A805V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2149						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)		GACAACCTTGCAGGtaaattt	0.348000												
DCLK1	9201	broad.mit.edu	37	13	36401891	36401891	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:36401891C>T	uc001uvf.2	-	10	1521	c.1288G>A	c.(1288-1290)GAG>AAG	p.E430K	DCLK1_uc001uve.3_Missense_Mutation_p.E123K|DCLK1_uc010teh.1_Missense_Mutation_p.E123K|DCLK1_uc010abk.2_Intron	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	430	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATCATGTGCTCCTGTCCAAAG	0.398000												
LMO7	4008	broad.mit.edu	37	13	76432063	76432063	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:76432063G>A	uc001vjv.2	+	27	4832	c.4072G>A	c.(4072-4074)GGC>AGC	p.G1358S	LMO7_uc010thv.1_Missense_Mutation_p.R1345Q|LMO7_uc010thw.1_Missense_Mutation_p.R1271Q|LMO7_uc001vjx.1_RNA	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	Error:Variant_position_missing_in_Q8WWI1_after_alignment						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCAGCTGGACGGCCAACCGCC	0.438000												
SLITRK1	114798	broad.mit.edu	37	13	84454725	84454725	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:84454725G>A	uc001vlk.2	-	1	1804	c.918C>T	c.(916-918)AAC>AAT	p.N306N		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	306	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTGTACCTCCGTTTGGAGCAG	0.542000												
IPO5	3843	broad.mit.edu	37	13	98673368	98673368	+	Missense_Mutation	SNP	A	A	G	rs145600638		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:98673368A>G	uc001vne.2	+	28	3422	c.3242A>G	c.(3241-3243)AAT>AGT	p.N1081S		NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	1063					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						CGTCTGGCCAATGTCGTTCGC	0.403000												
RNF113B	140432	broad.mit.edu	37	13	98829144	98829144	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:98829144T>C	uc001vnk.2	-	1	378	c.347A>G	c.(346-348)CAG>CGG	p.Q116R	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	116							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CTCGGTGTCCTGCTCGAAGTC	0.677000												
PCCA	5095	broad.mit.edu	37	13	101077918	101077918	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:101077918C>T	uc001voo.2	+	20	1816	c.1778C>T	c.(1777-1779)ACC>ATC	p.T593I	PCCA_uc010aga.2_Missense_Mutation_p.T567I|PCCA_uc010tiz.1_Missense_Mutation_p.T593I|PCCA_uc001vop.2_RNA	NM_000282	NP_000273	P05165	PCCA_HUMAN	propionyl-Coenzyme A carboxylase, alpha	593					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			skin(2)	2	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CTAAATGTGACCAGCACGTGG	0.473000												
NALCN	259232	broad.mit.edu	37	13	101717877	101717877	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:101717877G>A	uc001vox.1	-	40	4672	c.4483C>T	c.(4483-4485)CGG>TGG	p.R1495W		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1495	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)					CGCAGTAGCCGCAGCAGGAAC	0.567000												
NALCN	259232	broad.mit.edu	37	13	102047698	102047698	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:102047698G>A	uc001vox.1	-	3	316	c.127C>T	c.(127-129)CGC>TGC	p.R43C	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R43C|NALCN_uc001vpa.2_Missense_Mutation_p.R43C	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	43	Helical; Name=S1 of repeat I; (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)					GCACAGATGCGCAGCAAAGAG	0.438000												
SOX1	6656	broad.mit.edu	37	13	112722290	112722290	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:112722290G>A	uc001vsb.1	+	1	378	c.318G>A	c.(316-318)CGG>CGA	p.R106R		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	106	HMG box.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		AGGCCAAGCGGCTGCGCGCGC	0.602000												
MCF2L	23263	broad.mit.edu	37	13	113744018	113744018	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:113744018A>G	uc001vsu.2	+	26	3122	c.3100A>G	c.(3100-3102)ACA>GCA	p.T1034A	MCF2L_uc001vsq.2_Missense_Mutation_p.T1034A|MCF2L_uc010tjr.1_Missense_Mutation_p.T977A|MCF2L_uc001vsr.2_Missense_Mutation_p.T981A|MCF2L_uc001vss.3_Missense_Mutation_p.T975A|MCF2L_uc010tjs.1_Missense_Mutation_p.T975A	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	1007					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|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCGCCACTGACAAAGCCCCC	0.577000												
RASA3	22821	broad.mit.edu	37	13	114751101	114751101	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:114751101G>A	uc001vui.2	-	23	2545	c.2414C>T	c.(2413-2415)ACG>ATG	p.T805M	RASA3_uc010tkk.1_Missense_Mutation_p.T773M|RASA3_uc001vuj.2_Missense_Mutation_p.T422M	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	805					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCCATATTTCGTCTTCTTGAA	0.607000												
TEP1	7011	broad.mit.edu	37	14	20871978	20871978	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:20871978C>T	uc001vxe.2	-	6	1138	c.1098G>A	c.(1096-1098)ACG>ACA	p.T366T	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	366	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAAATTTGTCCGTCATGGCAG	0.587000												
SLC22A17	51310	broad.mit.edu	37	14	23821303	23821303	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:23821303C>T	uc001wjl.2	-	1	177	c.121G>A	c.(121-123)GCT>ACT	p.A41T	SLC22A17_uc010akk.2_5'UTR|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Missense_Mutation_p.A41T|SLC22A17_uc010akl.1_Missense_Mutation_p.A41T	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a	41					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity				0	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GCTAGGGCAGCGCTGGCGACG	0.697000												
MYH7	4625	broad.mit.edu	37	14	23884861	23884861	+	Missense_Mutation	SNP	G	G	A	rs121913650		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:23884861G>A	uc001wjx.2	-	35	5240	c.5134C>T	c.(5134-5136)CGG>TGG	p.R1712W		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1712	Potential.		R -> W (in CMH1).		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)		AGCTGCACCCGCTCACTAGTC	0.617000												
RIPK3	11035	broad.mit.edu	37	14	24805598	24805598	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:24805598C>T	uc001wpb.2	-	10	1550	c.1340G>A	c.(1339-1341)CGA>CAA	p.R447Q	ADCY4_uc001wov.2_5'Flank|ADCY4_uc001wow.2_5'Flank|ADCY4_uc010toh.1_5'Flank|ADCY4_uc001wox.2_5'Flank|ADCY4_uc001woy.2_5'Flank|ADCY4_uc001woz.3_5'Flank|RIPK3_uc001wpa.2_Missense_Mutation_p.R247Q|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_Missense_Mutation_p.R226Q	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	447					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)		AACGAGCGGTCGCCCTTTAAG	0.512000												
NFATC4	4776	broad.mit.edu	37	14	24842494	24842494	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:24842494G>A	uc001wpc.2	+	4	1798	c.1477G>A	c.(1477-1479)GCC>ACC	p.A493T	NFATC4_uc010tok.1_Missense_Mutation_p.A556T|NFATC4_uc010tol.1_Missense_Mutation_p.A556T|NFATC4_uc010alr.2_Missense_Mutation_p.A556T|NFATC4_uc010als.2_Missense_Mutation_p.A506T|NFATC4_uc010tom.1_Missense_Mutation_p.A506T|NFATC4_uc010ton.1_Missense_Mutation_p.A506T|NFATC4_uc010too.1_Missense_Mutation_p.A506T|NFATC4_uc010alt.2_Missense_Mutation_p.A525T|NFATC4_uc010top.1_Missense_Mutation_p.A525T|NFATC4_uc010toq.1_Missense_Mutation_p.A525T|NFATC4_uc010alu.2_Missense_Mutation_p.A185T|NFATC4_uc010tor.1_Missense_Mutation_p.A493T|NFATC4_uc010tos.1_Missense_Mutation_p.A423T|NFATC4_uc010tot.1_Missense_Mutation_p.A481T|NFATC4_uc010tou.1_Missense_Mutation_p.A423T|NFATC4_uc010tov.1_Missense_Mutation_p.A481T|NFATC4_uc010tow.1_Missense_Mutation_p.A423T|NFATC4_uc010alv.2_Missense_Mutation_p.A481T|NFATC4_uc010tox.1_Missense_Mutation_p.A423T|NFATC4_uc001wpd.2_Missense_Mutation_p.A28T|NFATC4_uc010toy.1_Missense_Mutation_p.A28T|NFATC4_uc010toz.1_Missense_Mutation_p.A28T|NFATC4_uc010tpa.1_5'Flank|NFATC4_uc010tpb.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	493	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CAAGATGGTGGCCACGGCCAG	0.547000												
COCH	1690	broad.mit.edu	37	14	31355427	31355427	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:31355427G>T	uc001wqr.2	+	11	1466	c.1386G>T	c.(1384-1386)AGG>AGT	p.R462S	COCH_uc001wqp.2_Missense_Mutation_p.R462S|COCH_uc001wqq.3_Missense_Mutation_p.R462S|uc001wqs.2_RNA|COCH_uc001wqt.1_Missense_Mutation_p.R313S	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	462	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GCCCTATAAGGGAGAGCCCCA	0.483000												
NPAS3	64067	broad.mit.edu	37	14	34266683	34266683	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:34266683C>T	uc001wru.2	+	11	1386	c.1322C>T	c.(1321-1323)ACA>ATA	p.T441I	NPAS3_uc001wrs.2_Missense_Mutation_p.T428I|NPAS3_uc001wrt.2_Missense_Mutation_p.T409I|NPAS3_uc001wrv.2_Missense_Mutation_p.T411I	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TACAAGGACACACCCATGGAC	0.527000												
KLHDC2	23588	broad.mit.edu	37	14	50249176	50249176	+	Splice_Site	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:50249176G>T	uc001wwx.2	+	11	1444	c.1044_splice	c.e11+1	p.A348_splice	SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Splice_Site_p.A348_splice|KLHDC2_uc010anp.2_Splice_Site	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2							nucleus	protein binding			ovary(1)	1	all_epithelial(31;0.000959)|Breast(41;0.0117)					TCACAGAGCTGTAAGTATACT	0.368000												
TRIM9	114088	broad.mit.edu	37	14	51561482	51561482	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:51561482T>G	uc001wyx.3	-	1	941	c.176A>C	c.(175-177)GAC>GCC	p.D59A	TRIM9_uc001wyy.2_Missense_Mutation_p.D59A|TRIM9_uc001wyz.3_Missense_Mutation_p.D59A	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	59					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)					ATAGTCATAGTCGGAGACCCC	0.642000												
TXNDC16	57544	broad.mit.edu	37	14	52948967	52948967	+	Silent	SNP	A	A	G	rs143047031		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:52948967A>G	uc001wzs.2	-	14	1742	c.1293T>C	c.(1291-1293)GAT>GAC	p.D431D	TXNDC16_uc010tqu.1_Silent_p.D426D|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	431	Thioredoxin.				cell redox homeostasis	extracellular region					0	Breast(41;0.0716)					TAACTGCCACATCAATATAGG	0.323000												
MUDENG	55745	broad.mit.edu	37	14	57747008	57747008	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:57747008A>G	uc001xcv.2	+	3	1243	c.816A>G	c.(814-816)GTA>GTG	p.V272V	MUDENG_uc010tri.1_Silent_p.V26V|MUDENG_uc010trj.1_Silent_p.V169V	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Mu-2 related death-inducing protein	272	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex				ovary(1)	1						ACCCTTGTGTAACTTCTCTTG	0.418000												
RTN1	6252	broad.mit.edu	37	14	60213141	60213141	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:60213141C>T	uc001xen.1	-	2	509	c.300G>A	c.(298-300)GGG>GGA	p.G100G		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	100					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ACGATCCTTCCCCATCTTTTG	0.468000												
C14orf135	64430	broad.mit.edu	37	14	60582054	60582054	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:60582054T>C	uc001xer.3	+	3	1052	c.530T>C	c.(529-531)GTA>GCA	p.V177A	C14orf135_uc001xeq.2_Missense_Mutation_p.V177A|C14orf135_uc010apm.2_5'Flank	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	411						integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		ATTCAAAGCGTATATATCATT	0.363000												
RHOJ	57381	broad.mit.edu	37	14	63671636	63671636	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:63671636G>A	uc001xgb.1	+	1	492	c.49G>A	c.(49-51)GAC>AAC	p.D17N		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	17					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CAGGGGCAACGACGAGAAGAA	0.577000												
PPP2R5E	5529	broad.mit.edu	37	14	63851161	63851161	+	Splice_Site	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:63851161C>T	uc001xgd.1	-	12	1792	c.1202_splice	c.e12+1	p.P401_splice	PPP2R5E_uc010tsf.1_Splice_Site_p.P325_splice|PPP2R5E_uc010tsg.1_Splice_Site_p.P325_splice|PPP2R5E_uc001xge.2_Splice_Site_p.P401_splice|PPP2R5E_uc010tsh.1_Splice_Site_p.P401_splice|PPP2R5E_uc001xgf.1_Splice_Site	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,						signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TGAAAACCTACGGATTCCAAT	0.299000												
MTHFD1	4522	broad.mit.edu	37	14	64867549	64867549	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:64867549T>C	uc001xhb.2	+	2	467	c.80T>C	c.(79-81)TTG>TCG	p.L27S	MTHFD1_uc010aqe.2_Missense_Mutation_p.L83S|MTHFD1_uc010aqf.2_Missense_Mutation_p.L83S	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	27	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GTCACTCAGTTGAAGGAGCAA	0.393000												
PLEKHG3	26030	broad.mit.edu	37	14	65198835	65198835	+	Missense_Mutation	SNP	G	G	A	rs138713446	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:65198835G>A	uc001xho.1	+	10	1417	c.1148G>A	c.(1147-1149)CGG>CAG	p.R383Q	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R327Q|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R383Q|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	383	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GAGGAGAAACGGAACTGGACT	0.552000												
SPTB	6710	broad.mit.edu	37	14	65260557	65260557	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:65260557G>A	uc001xht.2	-	13	1878	c.1824C>T	c.(1822-1824)ATC>ATT	p.I608I	SPTB_uc001xhr.2_Silent_p.I608I|SPTB_uc001xhs.2_Silent_p.I608I|SPTB_uc001xhu.2_Silent_p.I608I	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	608	Spectrin 4.				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)		TGCGGTCCTGGATGACCTGGG	0.567000												
ZFYVE26	23503	broad.mit.edu	37	14	68246963	68246963	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:68246963C>T	uc001xka.2	-	23	4808	c.4669G>A	c.(4669-4671)GCA>ACA	p.A1557T	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.A1557T	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1557					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGTACCTGTGCTTCTAGAATC	0.498000												
EXD2	55218	broad.mit.edu	37	14	69695627	69695627	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:69695627G>A	uc001xkt.2	+	5	712	c.53G>A	c.(52-54)TGT>TAT	p.C18Y	EXD2_uc001xku.2_Translation_Start_Site|EXD2_uc001xkv.2_Missense_Mutation_p.C143Y|EXD2_uc001xkw.2_Missense_Mutation_p.C18Y|EXD2_uc001xkx.2_RNA|EXD2_uc010aqt.2_Missense_Mutation_p.C143Y|EXD2_uc010tte.1_Missense_Mutation_p.C143Y|EXD2_uc001xky.2_Missense_Mutation_p.C18Y	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	18					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						AAGCTAATCTGTGGAGGAAAA	0.483000												
HEATR4	399671	broad.mit.edu	37	14	73985743	73985743	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:73985743C>A	uc010tub.1	-	5	1516	c.1194G>T	c.(1192-1194)CAG>CAT	p.Q398H	HEATR4_uc010tua.1_Missense_Mutation_p.Q351H	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CAGGAATTGCCTGGGCACTCC	0.468000												
C14orf115	55237	broad.mit.edu	37	14	74824432	74824432	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:74824432G>A	uc001xpw.3	+	2	1137	c.946G>A	c.(946-948)GCC>ACC	p.A316T		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	316					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		CCGCTTCTCCGCCAAGCACTT	0.637000												
LTBP2	4053	broad.mit.edu	37	14	74969544	74969544	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:74969544G>A	uc001xqa.2	-	34	5369	c.4982C>T	c.(4981-4983)CCC>CTC	p.P1661L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1661					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)		CAGGTCATCGGGCCCGGGGCC	0.637000												
YLPM1	56252	broad.mit.edu	37	14	75284986	75284986	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:75284986G>A	uc001xqj.3	+	16	6123	c.5999G>A	c.(5998-6000)CGT>CAT	p.R2000H	YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.R483H	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTAGATATTCGTTCTTTGCTG	0.348000												
RPS6KL1	83694	broad.mit.edu	37	14	75388057	75388057	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:75388057C>T	uc010tux.1	-	2	716	c.188G>A	c.(187-189)CGC>CAC	p.R63H	RPS6KL1_uc001xqw.2_Missense_Mutation_p.R63H|RPS6KL1_uc010asd.1_RNA|RPS6KL1_uc001xqy.1_Missense_Mutation_p.R63H	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	63						ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		ACTAACATCGCGCTCCAGGGC	0.612000												
C14orf4	64207	broad.mit.edu	37	14	77492010	77492010	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:77492010T>C	uc001xsy.2	-	1	3025	c.2126A>G	c.(2125-2127)AAC>AGC	p.N709S		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	709						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)		GGGTCCGCTGTTGGCCATGGG	0.602000												
GALC	2581	broad.mit.edu	37	14	88448557	88448557	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:88448557A>G	uc001xvt.2	-	6	1012	c.613T>C	c.(613-615)TAT>CAT	p.Y205H	GALC_uc010tvw.1_5'Flank|GALC_uc010tvx.1_Missense_Mutation_p.Y179H|GALC_uc010tvy.1_Missense_Mutation_p.Y182H|GALC_uc010tvz.1_Missense_Mutation_p.Y149H|GALC_uc001xvu.1_Missense_Mutation_p.Y205H	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	205					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						ACCTTAATATAATTGGCATTA	0.289000												
KCNK10	54207	broad.mit.edu	37	14	88654340	88654340	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:88654340G>A	uc001xwo.2	-	6	1424	c.967C>T	c.(967-969)CGG>TGG	p.R323W	KCNK10_uc001xwm.2_Missense_Mutation_p.R328W|KCNK10_uc001xwn.2_Missense_Mutation_p.R328W	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	323	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R323Q(1)		ovary(2)|skin(2)|pancreas(1)	5						GACAGAACCCGTAGCCAATCT	0.473000												
TTC7B	145567	broad.mit.edu	37	14	91282553	91282553	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:91282553G>A	uc001xyp.2	-	1	209	c.87C>T	c.(85-87)CTC>CTT	p.L29L		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	29							binding			ovary(2)	2		Melanoma(154;0.222)				GCTGCTTGACGAGCTCAGGGA	0.483000												
CCDC88C	440193	broad.mit.edu	37	14	91875074	91875074	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:91875074C>T	uc010aty.2	-	3	298	c.199G>A	c.(199-201)GTC>ATC	p.V67I	CCDC88C_uc010twk.1_Missense_Mutation_p.V31I|CCDC88C_uc001xzl.3_Missense_Mutation_p.V67I	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	67					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)				TCATTGTTGACGTGCTTATTG	0.468000												
SERPINA4	5267	broad.mit.edu	37	14	95033560	95033560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:95033560G>A	uc001ydk.2	+	3	969	c.903G>A	c.(901-903)TGG>TGA	p.W301*	SERPINA4_uc010avd.2_Nonsense_Mutation_p.W338*|SERPINA4_uc001ydl.2_Nonsense_Mutation_p.W301*	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	301					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		TAATGAGGTGGAACAACTTGT	0.433000												
DICER1	23405	broad.mit.edu	37	14	95557666	95557666	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:95557666C>T	uc001ydw.2	-	26	5583	c.5401G>A	c.(5401-5403)GAT>AAT	p.D1801N	DICER1_uc010avh.1_Missense_Mutation_p.D699N|DICER1_uc001ydv.2_Missense_Mutation_p.D1791N|DICER1_uc001ydx.2_Missense_Mutation_p.D1801N	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1801	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACTTCAATATCCTCTTCTTTC	0.453000			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
MAGEL2	54551	broad.mit.edu	37	15	23889184	23889184	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:23889184C>T	uc001ywj.3	-	1	1992	c.1897G>A	c.(1897-1899)GGT>AGT	p.G633S		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCACTGTCACCGGTGTCAGGT	0.582000												
OTUD7A	161725	broad.mit.edu	37	15	31862339	31862339	+	Silent	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:31862339T>G	uc001zfq.2	-	2	306	c.213A>C	c.(211-213)ACA>ACC	p.T71T	OTUD7A_uc001zfr.2_Silent_p.T71T|OTUD7A_uc001zfs.1_RNA|OTUD7A_uc010baa.1_Silent_p.T71T	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	71						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCAGATTGGCTGTGTGCACCT	0.597000												
RYR3	6263	broad.mit.edu	37	15	33938602	33938602	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:33938602G>A	uc001zhi.2	+	29	3886	c.3816G>A	c.(3814-3816)ACG>ACA	p.T1272T	RYR3_uc010bar.2_Silent_p.T1272T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1272	4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAAGGTGACGCATAAGACAT	0.537000												
RYR3	6263	broad.mit.edu	37	15	34032146	34032146	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:34032146C>A	uc001zhi.2	+	51	7840	c.7770C>A	c.(7768-7770)ATC>ATA	p.I2590I	RYR3_uc010bar.2_Silent_p.I2590I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2590	3.|Cytoplasmic (By similarity).|4 X approximate repeats.				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)		AGAAACAGATCTCAGTGGATG	0.468000												
RYR3	6263	broad.mit.edu	37	15	34102805	34102805	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:34102805A>G	uc001zhi.2	+	71	10222	c.10152A>G	c.(10150-10152)CCA>CCG	p.P3384P	RYR3_uc010bar.2_Silent_p.P3379P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3384					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)		TGTGTACTCCAGGCGACCAGG	0.532000												
GJD2	57369	broad.mit.edu	37	15	35044711	35044711	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:35044711T>C	uc001zis.1	-	2	934	c.934A>G	c.(934-936)AGG>GGG	p.R312G	uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	312	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GACTGAGTCCTGCCAAAATTG	0.542000												
DISP2	85455	broad.mit.edu	37	15	40661129	40661129	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:40661129C>A	uc001zlk.1	+	8	2905	c.2816C>A	c.(2815-2817)CCT>CAT	p.P939H		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	939					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GGCATGGCACCTCCAGGCCTC	0.602000												
SPTBN5	51332	broad.mit.edu	37	15	42185101	42185101	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:42185101G>A	uc001zos.2	-	3	603	c.270C>T	c.(268-270)CTC>CTT	p.L90L	uc010bcp.1_RNA	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	125	Actin-binding.|CH 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTTGGCCCTGAGGAAGGCCA	0.687000												
DTWD1	56986	broad.mit.edu	37	15	49917367	49917367	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:49917367G>A	uc001zxq.2	+	3	280	c.3G>A	c.(1-3)ATG>ATA	p.M1I	DTWD1_uc001zxp.3_RNA|DTWD1_uc001zxs.2_Missense_Mutation_p.M1I|DTWD1_uc001zxr.2_5'UTR|DTWD1_uc001zxo.2_Missense_Mutation_p.M1I	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	1											0		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AATGAAGAATGTCTCTCAATC	0.313000												
TRPM7	54822	broad.mit.edu	37	15	50931674	50931674	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:50931674C>T	uc001zyt.3	-	6	871	c.607G>A	c.(607-609)GGA>AGA	p.G203R	TRPM7_uc010bew.1_Missense_Mutation_p.G203R	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	203	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GGAGCTATTCCGATAGTGCAA	0.328000												
MYO5A	4644	broad.mit.edu	37	15	52611494	52611494	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:52611494A>G	uc002aby.2	-	38	5166	c.4922T>C	c.(4921-4923)GTG>GCG	p.V1641A	MYO5A_uc002abx.3_Missense_Mutation_p.V1614A|MYO5A_uc010ugd.1_Missense_Mutation_p.V363A	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1641	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGTGGGCTTCACCCCAGACAC	0.532000												
FBXL22	283807	broad.mit.edu	37	15	63893593	63893593	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:63893593C>A	uc002amn.2	+	2	448	c.434C>A	c.(433-435)CCT>CAT	p.P145H	uc002amj.2_5'Flank|uc002amk.2_5'Flank|uc002aml.2_5'Flank	NM_203373	NP_976307	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	145											0						TGGGGAGGACCTGACCACTCG	0.726000												
KIF23	9493	broad.mit.edu	37	15	69737166	69737166	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:69737166G>A	uc002asb.2	+	19	2534	c.2417G>A	c.(2416-2418)CGT>CAT	p.R806H	KIF23_uc002asc.2_Missense_Mutation_p.R702H|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_Missense_Mutation_p.R519H	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	806					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						CCACCAATTCGTCTCCGACAC	0.463000												
THSD4	79875	broad.mit.edu	37	15	71952908	71952908	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:71952908G>A	uc002atb.1	+	7	1271	c.1192G>A	c.(1192-1194)GTG>ATG	p.V398M	THSD4_uc002atd.1_Missense_Mutation_p.V72M|THSD4_uc010ukg.1_Missense_Mutation_p.V38M|THSD4_uc002ate.2_Missense_Mutation_p.V38M	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	398						proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						CGACAAAGTCGTGGACAAATG	0.517000												
STOML1	9399	broad.mit.edu	37	15	74276451	74276451	+	Missense_Mutation	SNP	C	C	T	rs141171144	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:74276451C>T	uc002awe.2	-	7	1095	c.1024G>A	c.(1024-1026)GGG>AGG	p.G342R	STOML1_uc002awf.2_Missense_Mutation_p.G341R|STOML1_uc010bje.2_Missense_Mutation_p.G271R|STOML1_uc010uld.1_Missense_Mutation_p.G299R|STOML1_uc002awh.2_Missense_Mutation_p.G292R|STOML1_uc002awg.2_Missense_Mutation_p.G291R|STOML1_uc002awi.2_Missense_Mutation_p.G254R	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	342	Cytoplasmic (Potential).|SCP2.					integral to membrane	sterol binding			skin(1)	1						TCAGGCACCCCGTGTCCCACT	0.622000												
CYP11A1	1583	broad.mit.edu	37	15	74630343	74630343	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:74630343C>A	uc002axt.2	-	9	1691	c.1536G>T	c.(1534-1536)TGG>TGT	p.W512C	CYP11A1_uc002axs.2_Missense_Mutation_p.W354C|CYP11A1_uc010bjm.1_Missense_Mutation_p.W354C|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Missense_Mutation_p.W430C	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	512					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GGTTAAAGGGCCAGAAGGTGA	0.552000												
PTPN9	5780	broad.mit.edu	37	15	75819488	75819488	+	Missense_Mutation	SNP	G	G	A	rs114183309	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:75819488G>A	uc002bal.2	-	2	686	c.178C>T	c.(178-180)CGT>TGT	p.R60C		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	60						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						TCTATGGCACGGAGCACATCA	0.493000												
AP3B2	8120	broad.mit.edu	37	15	83348969	83348969	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:83348969G>A	uc010uoh.1	-	9	1245	c.1068C>T	c.(1066-1068)TAC>TAT	p.Y356Y	AP3B2_uc010uoi.1_Silent_p.Y356Y|AP3B2_uc010uoj.1_Silent_p.Y324Y|AP3B2_uc010uog.1_Translation_Start_Site	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	356					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAGCACAACGTACTGCACCT	0.677000												
ZSCAN2	54993	broad.mit.edu	37	15	85164613	85164613	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:85164613G>T	uc002bkr.2	+	3	1413	c.1187G>T	c.(1186-1188)GGG>GTG	p.G396V	ZSCAN2_uc010bmz.1_Missense_Mutation_p.G394V|ZSCAN2_uc010bna.2_Missense_Mutation_p.G246V|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	396	C2H2-type 7.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACCGACTGTGGGCAGAGGTTC	0.512000												
IGF1R	3480	broad.mit.edu	37	15	99486214	99486214	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:99486214C>T	uc002bul.2	+	19	3570	c.3520C>T	c.(3520-3522)CTG>TTG	p.L1174L	IGF1R_uc010bon.2_Silent_p.L1173L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	1174	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)	GAAAGGGCTGCTGCCCGTGCG	0.532000												
CRAMP1L	57585	broad.mit.edu	37	16	1709993	1709993	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:1709993G>A	uc010uvh.1	+	10	2342	c.2342G>A	c.(2341-2343)CGC>CAC	p.R781H	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	781						nucleus	DNA binding				0						CGCAGCCCCCGCTGCCCTCGG	0.657000												
TRAF7	84231	broad.mit.edu	37	16	2215906	2215906	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:2215906C>T	uc002cow.2	+	3	207	c.108C>T	c.(106-108)CCC>CCT	p.P36P		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	36					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CCTTCGGACCCGCCTTTTCAG	0.607000												
TCEB2	6923	broad.mit.edu	37	16	2822060	2822060	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:2822060C>T	uc002crn.2	-	4	345	c.288G>A	c.(286-288)CCG>CCA	p.P96P	TCEB2_uc002crm.2_Silent_p.P96P	NM_007108	NP_009039	Q15370	ELOB_HUMAN	elongin B isoform a	96					positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding				0						GCAGCTCTGGCGGGCTGGAAA	0.607000												
GLYR1	84656	broad.mit.edu	37	16	4862174	4862174	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:4862174A>G	uc002cxx.3	-	13	1232	c.1195T>C	c.(1195-1197)TTG>CTG	p.L399L	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.L313L|GLYR1_uc002cya.2_Silent_p.L393L|GLYR1_uc010uxv.1_Silent_p.L318L	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	399					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						AAGATCACCAACATCCCGTCA	0.562000												
TXNDC11	51061	broad.mit.edu	37	16	11785525	11785525	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:11785525T>C	uc010buu.1	-	9	1664	c.1602A>G	c.(1600-1602)GCA>GCG	p.A534A	TXNDC11_uc002dbg.1_Silent_p.A507A	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	534					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						TCCTGCAACATGCAGTGTAGT	0.448000												
GSPT1	2935	broad.mit.edu	37	16	11979123	11979123	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:11979123G>A	uc002dbr.2	-	8	875	c.848C>T	c.(847-849)CCG>CTG	p.P283L	GSPT1_uc002dbu.2_Missense_Mutation_p.P420L|GSPT1_uc002dbt.2_Missense_Mutation_p.P421L|GSPT1_uc010bux.2_Missense_Mutation_p.P283L	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	G1 to S phase transition 1 isoform 3	283					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						TGGAATAAACGGTAATCCACT	0.328000												
TMC7	79905	broad.mit.edu	37	16	19063046	19063046	+	Silent	SNP	G	G	A	rs150607973		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:19063046G>A	uc002dfq.2	+	13	1909	c.1779G>A	c.(1777-1779)CCG>CCA	p.P593P	TMC7_uc002dfp.2_Silent_p.P593P|TMC7_uc010vap.1_Silent_p.P483P	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	593	Cytoplasmic (Potential).					integral to membrane				skin(2)|ovary(1)	3						CCCCCAGGCCGTTCAGAGCAT	0.388000												
ACSM2A	123876	broad.mit.edu	37	16	20471449	20471449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:20471449C>T	uc010bwe.2	+	3	252	c.13C>T	c.(13-15)CGA>TGA	p.R5*	ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.3_Nonsense_Mutation_p.R5*|ACSM2A_uc002dhg.3_Nonsense_Mutation_p.R5*|ACSM2A_uc010vay.1_Intron	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	5					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						GCATTGGCTGCGAAAAGTTCA	0.488000												
DNAH3	55567	broad.mit.edu	37	16	20994175	20994175	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:20994175C>T	uc010vbe.1	-	49	7727	c.7727G>A	c.(7726-7728)CGC>CAC	p.R2576H	DNAH3_uc010vbd.1_Missense_Mutation_p.R11H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2576	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CATCCGCAGGCGGTTCCTGAA	0.507000												
TNRC6A	27327	broad.mit.edu	37	16	24802952	24802952	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:24802952C>T	uc002dmm.2	+	6	3103	c.2989C>T	c.(2989-2991)CGC>TGC	p.R997C	TNRC6A_uc010bxs.2_Missense_Mutation_p.R744C|TNRC6A_uc010vcc.1_Missense_Mutation_p.R744C|TNRC6A_uc002dmn.2_Missense_Mutation_p.R744C|TNRC6A_uc002dmo.2_Missense_Mutation_p.R744C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	997	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		ATCTATACGTCGCAAAATGGA	0.483000												
AQP8	343	broad.mit.edu	37	16	25228611	25228611	+	Silent	SNP	G	G	A	rs138426074		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:25228611G>A	uc002doc.2	+	2	187	c.105G>A	c.(103-105)GTG>GTA	p.V35V		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	35	Cytoplasmic (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)		AACGGTTTGTGCAGCCATGTC	0.592000												
ZKSCAN2	342357	broad.mit.edu	37	16	25255513	25255513	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:25255513T>C	uc002dod.3	-	6	1981	c.1574A>G	c.(1573-1575)CAT>CGT	p.H525R	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.H321R	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	525					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		GCTCTTCCGATGACAGGCTTG	0.507000												
HS3ST4	9951	broad.mit.edu	37	16	26147212	26147212	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:26147212G>A	uc002dof.2	+	2	1406	c.1014G>A	c.(1012-1014)CTG>CTA	p.L338L		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	338	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		TCTATGCGCTGCATCTGGAAA	0.557000												
JMJD5	79831	broad.mit.edu	37	16	27231806	27231806	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:27231806G>T	uc002doh.2	+	7	1268	c.1086G>T	c.(1084-1086)CAG>CAT	p.Q362H	JMJD5_uc010vcn.1_Missense_Mutation_p.Q400H|JMJD5_uc010bxw.2_Intron|JMJD5_uc010bxx.2_RNA	NM_024773	NP_079049	Q8N371	KDM8_HUMAN	jumonji domain containing 5 isoform 2	362	JmjC.				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(2)|upper_aerodigestive_tract(1)	3						ACACGAGCCAGGTGGGCACTG	0.592000												
SH2B1	25970	broad.mit.edu	37	16	28883900	28883900	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:28883900C>T	uc002dri.2	+	10	2210	c.1771C>T	c.(1771-1773)CAC>TAC	p.H591Y	uc010vct.1_Intron|SH2B1_uc010vdc.1_Missense_Mutation_p.H281Y|SH2B1_uc002drj.2_Missense_Mutation_p.H591Y|SH2B1_uc002drk.2_Missense_Mutation_p.H591Y|SH2B1_uc002drl.2_Missense_Mutation_p.H591Y|SH2B1_uc010vdd.1_Missense_Mutation_p.H255Y|SH2B1_uc010vde.1_Missense_Mutation_p.H591Y|SH2B1_uc002drm.2_Missense_Mutation_p.H591Y	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	591	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						CCGGGTCCAGCACCTGTGGTT	0.597000												
YPEL3	83719	broad.mit.edu	37	16	30106652	30106652	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:30106652T>C	uc002dwm.2	-	2	224	c.38A>G	c.(37-39)TAC>TGC	p.Y13C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|YPEL3_uc002dwl.2_Missense_Mutation_p.Y51C|YPEL3_uc002dwn.1_Missense_Mutation_p.Y51C|uc002dwo.1_5'Flank	NM_001145524	NP_001138996	P61236	YPEL3_HUMAN	yippee-like 3 isoform 2	13						nucleolus					0						ATCATCCAAGTAGGCCTGAAA	0.652000												
ZNF689	115509	broad.mit.edu	37	16	30616043	30616043	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:30616043G>A	uc002dyx.2	-	3	1365	c.1045C>T	c.(1045-1047)CAC>TAC	p.H349Y	ZNF689_uc010bzy.2_Silent_p.S4S	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	349	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GCCTCACAGTGCTCGCAGGCA	0.682000												
SRCAP	10847	broad.mit.edu	37	16	30734020	30734020	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:30734020C>A	uc002dze.1	+	23	4228	c.3843C>A	c.(3841-3843)AGC>AGA	p.S1281R	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Intron|SRCAP_uc010bzz.1_Missense_Mutation_p.S851R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1281	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)			CGACCCCCAGCACCACCCCTG	0.652000												
ZNF646	9726	broad.mit.edu	37	16	31088784	31088784	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:31088784G>A	uc002eap.2	+	2	1428	c.1139G>A	c.(1138-1140)GGC>GAC	p.G380D		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	380	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						GGGGACTGTGGCCGTACTTAC	0.587000												
ITGAX	3687	broad.mit.edu	37	16	31372506	31372506	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:31372506A>T	uc002ebu.1	+	9	1051	c.984A>T	c.(982-984)CAA>CAT	p.Q328H	ITGAX_uc002ebt.2_Missense_Mutation_p.Q328H|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	328	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TTCAAAACCAACTGAAGGAGA	0.443000												
SLC5A2	6524	broad.mit.edu	37	16	31498660	31498660	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:31498660G>A	uc002ecf.3	+	6	613	c.594G>A	c.(592-594)ATG>ATA	p.M198I	SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	198	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						CCGCGCTGATGTACACGGACA	0.622000												
C16orf58	64755	broad.mit.edu	37	16	31512030	31512030	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:31512030G>A	uc002eci.1	-	3	450	c.438C>T	c.(436-438)CGC>CGT	p.R146R	C16orf58_uc010vfq.1_Silent_p.R4R	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	hypothetical protein LOC64755	146						integral to membrane				ovary(1)|breast(1)	2						CAAAGACGATGCGGCCCAGCA	0.512000												
NETO2	81831	broad.mit.edu	37	16	47165899	47165899	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:47165899G>A	uc002eer.1	-	2	457	c.72C>T	c.(70-72)GCC>GCT	p.A24A	NETO2_uc002ees.1_Silent_p.A24A	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	24	Extracellular (Potential).					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTTGGGCCACGGCAATCCCTT	0.358000										HNSCC(25;0.065)		
ABCC11	85320	broad.mit.edu	37	16	48226616	48226616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:48226616G>A	uc002eff.1	-	19	2871	c.2521C>T	c.(2521-2523)CGA>TGA	p.R841*	ABCC11_uc002efg.1_Nonsense_Mutation_p.R841*|ABCC11_uc002efh.1_Nonsense_Mutation_p.R841*|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	841	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTGCTCTCTCGGCTGCTATTG	0.557000									Cerumen_Type			
SALL1	6299	broad.mit.edu	37	16	51175241	51175241	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:51175241C>T	uc010vgs.1	-	2	923	c.892G>A	c.(892-894)GGA>AGA	p.G298R	SALL1_uc010vgr.1_Missense_Mutation_p.G201R|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	298					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGTGCCAATCCAGCTGCTGCT	0.522000												
CAPNS2	84290	broad.mit.edu	37	16	55600706	55600706	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:55600706G>A	uc002eid.1	+	1	123	c.38G>A	c.(37-39)CGA>CAA	p.R13Q	LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN	calpain small subunit 2	13	Gly-rich.					cytoplasm|plasma membrane	calcium ion binding				0						GGAGCAGATCGAGGTCTTGGA	0.438000												
AMFR	267	broad.mit.edu	37	16	56401438	56401438	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:56401438C>T	uc002eiy.2	-	12	1722	c.1517G>A	c.(1516-1518)CGG>CAG	p.R506Q	AMFR_uc002eix.2_Missense_Mutation_p.R140Q	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor	506					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)	2						GCTATCTGACCGCTGGAAGAG	0.498000												
NUP93	9688	broad.mit.edu	37	16	56862946	56862946	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:56862946C>T	uc002eka.2	+	9	973	c.852C>T	c.(850-852)GGC>GGT	p.G284G	NUP93_uc002ekb.2_Silent_p.G161G|NUP93_uc010vhi.1_Silent_p.G161G	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	284					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						CCCAGCTGGGCGGGGTGCCTG	0.438000												
CDH8	1006	broad.mit.edu	37	16	61747844	61747844	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:61747844C>T	uc002eog.1	-	10	1807	c.1555G>A	c.(1555-1557)GCC>ACC	p.A519T		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	519	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTGTCCATGGCGCTAACAGTT	0.388000												
CES2	8824	broad.mit.edu	37	16	66974142	66974142	+	Silent	SNP	C	C	T	rs150573301	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:66974142C>T	uc002eqr.2	+	4	1633	c.633C>T	c.(631-633)CAC>CAT	p.H211H	CES2_uc002eqq.2_Silent_p.H211H|CES2_uc002eqs.2_Silent_p.H54H	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	147					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TGTGGATCCACGGTGGTGCGC	0.567000												
HSF4	3299	broad.mit.edu	37	16	67199519	67199519	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:67199519G>A	uc002erl.1	+	4	1183	c.218G>A	c.(217-219)CGC>CAC	p.R73H	HSF4_uc002erm.1_Missense_Mutation_p.R73H|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	73	By similarity.		R -> H (in CZ-HSF4).		response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGCTTCGTGCGCCAACTCAAC	0.652000												
SLC9A5	6553	broad.mit.edu	37	16	67293791	67293791	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:67293791G>A	uc002esm.2	+	12	1847	c.1784G>A	c.(1783-1785)CGT>CAT	p.R595H	SLC9A5_uc010cee.2_Missense_Mutation_p.R300H|SLC9A5_uc010vji.1_Missense_Mutation_p.R99H|uc002esn.1_5'Flank	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	595					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)		GGCCGGGATCGTGAGGATGCT	0.612000												
PLEKHG4	25894	broad.mit.edu	37	16	67314221	67314221	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:67314221G>C	uc002eso.3	+	1	2809	c.274G>C	c.(274-276)GTC>CTC	p.V92L	PLEKHG4_uc002esp.3_5'UTR|PLEKHG4_uc002esq.3_Missense_Mutation_p.V92L|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc010cef.2_Missense_Mutation_p.V92L|PLEKHG4_uc002ess.3_Missense_Mutation_p.V92L|PLEKHG4_uc010ceg.2_Missense_Mutation_p.V92L	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	92					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		AAGCTCCTCAGTCCTGTCAGA	0.612000												
ATP6V0D1	9114	broad.mit.edu	37	16	67472975	67472975	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:67472975T>C	uc002ete.1	-	6	815	c.715A>G	c.(715-717)AAG>GAG	p.K239E	ATP6V0D1_uc010vjo.1_Missense_Mutation_p.K280E|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.K162E	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	239					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GGAAAGAGCTTGGCACGGTCC	0.577000												
PSMB10	5699	broad.mit.edu	37	16	67968747	67968747	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:67968747G>A	uc002eux.1	-	7	764	c.663C>T	c.(661-663)GGC>GGT	p.G221G	CTRL_uc002euw.2_5'Flank	NM_002801	NP_002792	P40306	PSB10_HUMAN	proteasome beta 10 subunit proprotein	221					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GCAGCTTGGCGCCAGTCTTTG	0.637000												
CDH1	999	broad.mit.edu	37	16	68862117	68862117	+	Silent	SNP	G	G	A	rs138493551	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:68862117G>A	uc002ewg.1	+	14	2329	c.2205G>A	c.(2203-2205)GCG>GCA	p.A735A	CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Silent_p.A674A	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	735	Cytoplasmic (Potential).				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGAGGAGAGCGGTGGTCAAAG	0.527000			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer			
NFAT5	10725	broad.mit.edu	37	16	69687167	69687167	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:69687167G>A	uc002exm.1	+	4	1995	c.787G>A	c.(787-789)GTA>ATA	p.V263I	NFAT5_uc002exh.1_Missense_Mutation_p.V57I|NFAT5_uc002exi.2_Missense_Mutation_p.V187I|NFAT5_uc002exj.1_Missense_Mutation_p.V187I|NFAT5_uc002exk.1_Missense_Mutation_p.V187I|NFAT5_uc002exl.1_Missense_Mutation_p.V281I|NFAT5_uc002exn.1_Missense_Mutation_p.V281I	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	263					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AGGAACTGGAGTAAAGAAGAG	0.378000												
HYDIN	54768	broad.mit.edu	37	16	70954971	70954971	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:70954971C>A	uc002ezr.2	-	46	7433	c.7305G>T	c.(7303-7305)CAG>CAT	p.Q2435H		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2436										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CCTCTTGGTCCTGGACAAGAG	0.463000												
AP1G1	164	broad.mit.edu	37	16	71803538	71803538	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:71803538C>T	uc010cgg.2	-	6	944	c.630G>A	c.(628-630)GCG>GCA	p.A210A	AP1G1_uc002fba.2_Silent_p.A210A|AP1G1_uc002fbb.2_Silent_p.A233A|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Silent_p.A292A	NM_001128	NP_001119	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1	210					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			ovary(2)	2		Ovarian(137;0.125)				TTCTGAAATGCGCAAGCATGT	0.383000												
ZFHX3	463	broad.mit.edu	37	16	72831632	72831632	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:72831632G>T	uc002fck.2	-	9	5622	c.4949C>A	c.(4948-4950)TCC>TAC	p.S1650Y	ZFHX3_uc002fcl.2_Missense_Mutation_p.S736Y	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1650					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ACTTGGCGTGGAGGAGCTCAA	0.542000												
ZFHX3	463	broad.mit.edu	37	16	72991509	72991509	+	Missense_Mutation	SNP	G	G	A	rs141276031		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:72991509G>A	uc002fck.2	-	2	3209	c.2536C>T	c.(2536-2538)CGC>TGC	p.R846C	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	846				RHLG -> HHRV (in Ref. 1).	muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CCCAGGTGGCGGTTGTGTTGG	0.567000												
ZFHX3	463	broad.mit.edu	37	16	72992629	72992629	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:72992629C>T	uc002fck.2	-	2	2089	c.1416G>A	c.(1414-1416)GCG>GCA	p.A472A	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	472	Poly-Glu.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				cctcctcctccgcctcttcct	0.299000												
ADAMTS18	170692	broad.mit.edu	37	16	77359782	77359782	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:77359782T>G	uc002ffc.3	-	13	2432	c.2013A>C	c.(2011-2013)AAA>AAC	p.K671N	ADAMTS18_uc010chc.1_Missense_Mutation_p.K259N|ADAMTS18_uc002ffe.1_Missense_Mutation_p.K367N	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	671	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TTGTATAGGGTTTCCACTGGT	0.378000												
ATMIN	23300	broad.mit.edu	37	16	81076065	81076065	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:81076065C>T	uc002ffz.1	+	3	660	c.642C>T	c.(640-642)CAC>CAT	p.H214H	ATMIN_uc002fga.2_Silent_p.H56H|ATMIN_uc010vnn.1_Intron|ATMIN_uc002fgb.1_Silent_p.H56H	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	214					response to DNA damage stimulus	nucleus	zinc ion binding				0						GAACTGGGCACGAGATACCTG	0.517000												
CDH13	1012	broad.mit.edu	37	16	83378575	83378575	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:83378575C>T	uc002fgx.2	+	6	865	c.745C>T	c.(745-747)CCC>TCC	p.P249S	CDH13_uc010vns.1_Missense_Mutation_p.P296S|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Missense_Mutation_p.P210S	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	249	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TCGGGAAGGCCCCTACATCGG	0.517000												
NECAB2	54550	broad.mit.edu	37	16	84005769	84005769	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:84005769C>T	uc002fhd.2	+	2	232	c.215C>T	c.(214-216)GCG>GTG	p.A72V	NECAB2_uc002fhe.2_5'UTR	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	neuronal calcium-binding protein 2	72	EF-hand 1.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			ovary(2)	2						TTCCGCCGTGCGGACAAAAAT	0.597000												
FOXL1	2300	broad.mit.edu	37	16	86612470	86612470	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:86612470G>A	uc002fjr.2	+	1	356	c.141G>A	c.(139-141)CCG>CCA	p.P47P		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	forkhead box L1	47					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1						CCGAGACCCCGCAGAAGCCTC	0.672000												
MVD	4597	broad.mit.edu	37	16	88725067	88725067	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:88725067G>A	uc002flg.1	-	2	139	c.132C>T	c.(130-132)CAC>CAT	p.H44H	MVD_uc002flf.1_5'Flank	NM_002461	NP_002452	P53602	MVD1_HUMAN	diphosphomevalonate decarboxylase	44					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity				0				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCTGGTCCTGGTGCAGAGTGA	0.502000												
SNAI3	333929	broad.mit.edu	37	16	88748006	88748006	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:88748006C>T	uc002flj.2	-	2	261	c.193G>A	c.(193-195)GTC>ATC	p.V65I	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	65					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		ATGCAGGCGACGGCCGAGGAG	0.711000												
TUBB3	10381	broad.mit.edu	37	16	89986279	89986279	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:89986279G>A	uc002fpf.2	+	1	1021	c.613G>A	c.(613-615)GTG>ATG	p.V205M	MC1R_uc002fpe.3_Missense_Mutation_p.V205M|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'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)		GCTCATGGCCGTGCTGTACGT	0.647000												
MYO1C	4641	broad.mit.edu	37	17	1378128	1378128	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:1378128A>G	uc002fsp.2	-	16	1914	c.1694T>C	c.(1693-1695)CTT>CCT	p.L565P	MYO1C_uc002fsn.2_Missense_Mutation_p.L546P|MYO1C_uc002fso.2_Missense_Mutation_p.L530P|MYO1C_uc010vqj.1_Missense_Mutation_p.L530P|MYO1C_uc010vqk.1_Missense_Mutation_p.L541P	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	565	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGGAAGAGAAGGTCATTGTT	0.632000												
TSR1	55720	broad.mit.edu	37	17	2236284	2236284	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:2236284G>A	uc002fuj.2	-	7	2233	c.1276C>T	c.(1276-1278)CAT>TAT	p.H426Y	SNORD91A_uc002ful.1_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	426	Glu-rich.				ribosome assembly	nucleolus	protein binding			ovary(1)	1						AAATCCTCATGTTCCATATCA	0.448000												
SPNS3	201305	broad.mit.edu	37	17	4352608	4352608	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:4352608G>A	uc002fxt.2	+	7	893	c.849G>A	c.(847-849)AAG>AAA	p.K283K	SPNS3_uc002fxu.2_Silent_p.K156K	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	283					lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1						GGGCCCCCAAGTTTCTGCTCG	0.672000												
MED11	400569	broad.mit.edu	37	17	4635160	4635160	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:4635160G>A	uc002fyp.2	+	2	237	c.175G>A	c.(175-177)GTG>ATG	p.V59M		NM_001001683	NP_001001683	Q9P086	MED11_HUMAN	mediator complex subunit 11	59					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding				0						AGTGCAACACGTGGAGGCGGA	0.612000											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NUP88	4927	broad.mit.edu	37	17	5314096	5314096	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:5314096G>A	uc002gbo.1	-	4	633	c.607C>T	c.(607-609)CGT>TGT	p.R203C	NUP88_uc010vsx.1_Missense_Mutation_p.R203C|NUP88_uc010cle.1_Missense_Mutation_p.R203C|NUP88_uc010vsy.1_Missense_Mutation_p.R203C	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	203					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1						TGCGGCTCACGTAGTGAGTAA	0.383000												
BCL6B	255877	broad.mit.edu	37	17	6927489	6927489	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:6927489C>T	uc002geg.2	+	3	324	c.267C>T	c.(265-267)TTC>TTT	p.F89F	BCL6B_uc010clt.1_Silent_p.F89F	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	89	BTB.					nucleus	zinc ion binding			skin(1)	1						CGAGAGGCTTCGCCCCTCTAT	0.617000												
KDM6B	23135	broad.mit.edu	37	17	7750430	7750430	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:7750430G>A	uc002giw.1	+	10	1293	c.917G>A	c.(916-918)CGG>CAG	p.R306Q	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	306	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						TAGGAGCAGCGGCACTCGCTG	0.642000												
KDM6B	23135	broad.mit.edu	37	17	7752175	7752175	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:7752175G>A	uc002giw.1	+	11	2945	c.2569G>A	c.(2569-2571)GCC>ACC	p.A857T	KDM6B_uc002gix.2_Missense_Mutation_p.A159T	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	857	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						GGCCCCTAGCGCCCAGGGCTC	0.706000												
PIK3R6	146850	broad.mit.edu	37	17	8726318	8726318	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:8726318G>T	uc002glq.1	-	15	1952	c.1712C>A	c.(1711-1713)CCC>CAC	p.P571H	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	571					platelet activation	cytosol					0						CTTACCTTTGGGGAATTTAGA	0.493000												
MYH13	8735	broad.mit.edu	37	17	10222241	10222241	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:10222241C>A	uc002gmk.1	-	27	3694	c.3604G>T	c.(3604-3606)GAT>TAT	p.D1202Y		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1202	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GCCACACTATCTGCTTGCTTC	0.572000												
MYH1	4619	broad.mit.edu	37	17	10398313	10398313	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:10398313G>A	uc002gmo.2	-	37	5495	c.5401C>T	c.(5401-5403)CTG>TTG	p.L1801L	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1801	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						GCCTCATCCAGACGATGCTGC	0.542000												
MYH2	4620	broad.mit.edu	37	17	10428368	10428368	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:10428368A>G	uc010coi.2	-	34	4805	c.4677T>C	c.(4675-4677)CAT>CAC	p.H1559H	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.H1559H|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1559	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TTCCCTCTTCATGTTCAAGAG	0.408000												
MYH2	4620	broad.mit.edu	37	17	10428789	10428789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:10428789G>A	uc010coi.2	-	32	4644	c.4516C>T	c.(4516-4518)CGA>TGA	p.R1506*	uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.R1506*|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1506	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1506*(1)		ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TTGTTCTCTCGCTTCAGGGTT	0.428000												
FLCN	201163	broad.mit.edu	37	17	17117098	17117098	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:17117098G>A	uc002gra.3	-	14	2115	c.1611C>T	c.(1609-1611)AGC>AGT	p.S537S	PLD6_uc010cpn.2_Intron	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	537					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						CACCCAGGATGCTCAGCAGCT	0.507000									Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer			
LLGL1	3996	broad.mit.edu	37	17	18133328	18133328	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:18133328G>A	uc002gsp.2	+	2	216	c.155G>A	c.(154-156)GGC>GAC	p.G52D		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	52	WD 1.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					ATGGCCATCGGCACCAGGTCT	0.622000												
LLGL1	3996	broad.mit.edu	37	17	18138263	18138263	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:18138263G>A	uc002gsp.2	+	9	1077	c.1016G>A	c.(1015-1017)CGC>CAC	p.R339H		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	339					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					TTCACTTCCCGCATCATCGAC	0.612000												
FAM83G	644815	broad.mit.edu	37	17	18881935	18881935	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:18881935C>T	uc002guw.2	-	5	1211	c.1044G>A	c.(1042-1044)AAG>AAA	p.K348K	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	348										ovary(1)|central_nervous_system(1)	2						CAAGTGCGTACTTGGGGTTGA	0.622000												
SLC47A1	55244	broad.mit.edu	37	17	19452949	19452949	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:19452949C>T	uc002gvy.1	+	5	543	c.457C>T	c.(457-459)CTT>TTT	p.L153F	SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Missense_Mutation_p.L153F|SLC47A1_uc010vyz.1_Missense_Mutation_p.L130F|SLC47A1_uc010cqp.1_Missense_Mutation_p.L153F|SLC47A1_uc010cqq.1_Silent_p.G4G	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	153	Helical; (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GTTATTTAGGCTTACCCAGAC	0.438000												
SUPT6H	6830	broad.mit.edu	37	17	27001457	27001457	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:27001457G>A	uc002hby.2	+	3	356	c.266G>A	c.(265-267)CGC>CAC	p.R89H	SUPT6H_uc010crt.2_Missense_Mutation_p.R89H	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	89	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					AAGAGAAAACGCAGTGAGTAG	0.498000												
NEK8	284086	broad.mit.edu	37	17	27064381	27064381	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:27064381C>T	uc002hcp.2	+	5	676	c.676C>T	c.(676-678)CGG>TGG	p.R226W		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	226	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					TATCTCTGACCGGTACAGCCC	0.587000												
FLOT2	2319	broad.mit.edu	37	17	27207775	27207775	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:27207775G>A	uc002hdc.2	-	10	1327	c.1204C>T	c.(1204-1206)CTG>TTG	p.L402L		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	flotillin 2	402					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction					0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GAGGCAGGCAGCTCGGCCAGC	0.592000												
SSH2	85464	broad.mit.edu	37	17	27977813	27977813	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:27977813C>T	uc002heo.1	-	12	1004	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q	SSH2_uc010wbh.1_Missense_Mutation_p.R362Q|SSH2_uc002hep.1_Missense_Mutation_p.R335Q	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	335	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						CAAGATATACCGTACCCTGCA	0.403000												
EFCAB5	374786	broad.mit.edu	37	17	28296322	28296322	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:28296322A>G	uc002het.2	+	4	896	c.704A>G	c.(703-705)CAG>CGG	p.Q235R	EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Missense_Mutation_p.Q179R|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.Q114R|EFCAB5_uc010csf.2_Missense_Mutation_p.Q114R	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5 isoform a	235							calcium ion binding			ovary(1)|skin(1)	2						TCTGGTTACCAGAGGTTGATG	0.368000												
ACCN1	40	broad.mit.edu	37	17	31416001	31416001	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:31416001C>T	uc002hhu.2	-	3	988	c.714G>A	c.(712-714)ACG>ACA	p.T238T	ACCN1_uc002hht.2_Silent_p.T289T	NM_001094	NP_001085	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	238	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)	CTTCAAATGTCGTTTCCTCTG	0.493000												
SLFN5	162394	broad.mit.edu	37	17	33586247	33586247	+	Missense_Mutation	SNP	C	C	T	rs139273106		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:33586247C>T	uc002hjf.3	+	2	655	c.538C>T	c.(538-540)CGG>TGG	p.R180W	SLFN5_uc002hje.2_Missense_Mutation_p.R180W|SLFN5_uc010wcg.1_Missense_Mutation_p.R180W	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	180					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGATAGAAAGCGGCTTCAGTA	0.403000												
RDM1	201299	broad.mit.edu	37	17	34251608	34251608	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:34251608C>A	uc002hkh.2	-	4	617	c.568G>T	c.(568-570)GGA>TGA	p.G190*	RDM1_uc010cty.2_Intron|RDM1_uc010ctz.2_Intron|RDM1_uc010cua.2_Nonsense_Mutation_p.G167*|RDM1_uc002hkg.3_Nonsense_Mutation_p.E167*|RDM1_uc010cub.2_Intron|RDM1_uc010cud.2_Nonsense_Mutation_p.E190*|RDM1_uc010cuf.2_Intron|RDM1_uc010cue.2_Intron|RDM1_uc010cug.2_Intron|RDM1_uc010cuc.2_Intron|RDM1_uc010wco.1_Intron|RDM1_uc010wcp.1_Nonsense_Mutation_p.G167*|RDM1_uc002hki.2_Nonsense_Mutation_p.G190*	NM_145654	NP_663629	Q8NG50	RDM1_HUMAN	RAD52 motif 1 isoform 1	190					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAAAACAGACCTTCCTCCACC	0.453000								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
GPR179	440435	broad.mit.edu	37	17	36499438	36499438	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:36499438G>A	uc002hpz.2	-	1	256	c.235C>T	c.(235-237)CGC>TGC	p.R79C		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	79	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCTTCATAGCGCTCACTGCAA	0.627000												
CDK12	51755	broad.mit.edu	37	17	37657601	37657601	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:37657601A>G	uc010cvv.2	+	6	3104	c.2518A>G	c.(2518-2520)ATG>GTG	p.M840V	CDK12_uc010wef.1_Missense_Mutation_p.M839V|CDK12_uc002hrw.3_Missense_Mutation_p.M840V	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	840	Protein kinase.				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						CAAGTCGTTCATGAAACAGCT	0.383000										TCGA Ovarian(9;0.13)		
PSMD3	5709	broad.mit.edu	37	17	38153813	38153813	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:38153813T>A	uc002htn.1	+	12	1748	c.1584T>A	c.(1582-1584)GAT>GAA	p.D528E	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.D429E	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	528					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					TGGCAGAAGATGATGATGACA	0.617000												
KRT27	342574	broad.mit.edu	37	17	38933343	38933343	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:38933343G>T	uc002hvg.2	-	8	1329	c.1288C>A	c.(1288-1290)CCT>ACT	p.P430T		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	430	Tail.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				TTGCCACGAGGATCTATCTCT	0.373000												
HAP1	9001	broad.mit.edu	37	17	39888507	39888507	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:39888507G>A	uc002hxm.1	-	3	701	c.689C>T	c.(688-690)GCC>GTC	p.A230V	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.A230V|HAP1_uc002hxo.1_Missense_Mutation_p.A238V|HAP1_uc002hxp.1_Missense_Mutation_p.A230V	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	230	HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCCCAGCAGGGCTTCCAGCTT	0.602000												
KLHL10	317719	broad.mit.edu	37	17	39994259	39994259	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:39994259C>A	uc010cxr.2	+	1	217	c.75C>A	c.(73-75)GCC>GCA	p.A25A	NT5C3L_uc010wfu.1_5'Flank|NT5C3L_uc002hyb.3_5'Flank|NT5C3L_uc002hyc.3_5'Flank|NT5C3L_uc002hyd.3_5'Flank|NT5C3L_uc002hxy.3_5'Flank|NT5C3L_uc002hxz.3_5'Flank|NT5C3L_uc002hya.3_5'Flank|KLHL10_uc010wfv.1_Silent_p.A25A|KLHL10_uc010wfw.1_Translation_Start_Site	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	kelch-like 10	25						cytoplasm				ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		Breast(137;0.000162)				GTGCGATGGCCTGTGAGATCT	0.562000												
HSD17B1	3292	broad.mit.edu	37	17	40705607	40705607	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:40705607T>C	uc002hzw.2	+	3	1384	c.416T>C	c.(415-417)TTG>TCG	p.L139S	HSD17B1_uc002hzx.2_Missense_Mutation_p.L139S|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_5'UTR|HSD17B1_uc010cyi.2_Missense_Mutation_p.L170S	NM_000413	NP_000404	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	139					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity				0		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GGACGCGTGTTGGTGACCGGG	0.617000												
EZH1	2145	broad.mit.edu	37	17	40856673	40856673	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:40856673C>T	uc002iaz.2	-	18	2109	c.1964G>A	c.(1963-1965)CGC>CAC	p.R655H	EZH1_uc002iba.2_Missense_Mutation_p.R646H|EZH1_uc010wgt.1_Missense_Mutation_p.R585H|EZH1_uc010wgu.1_Missense_Mutation_p.R661H|EZH1_uc010wgv.1_Missense_Mutation_p.R615H|EZH1_uc010wgw.1_Missense_Mutation_p.R516H|EZH1_uc010cyp.2_Missense_Mutation_p.R556H|EZH1_uc010cyq.2_Missense_Mutation_p.R572H|EZH1_uc010cyo.1_Missense_Mutation_p.R318H	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	655	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GACCTTTCCGCGTCGATCAGC	0.448000												
UBTF	7343	broad.mit.edu	37	17	42293150	42293150	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:42293150G>T	uc002igb.2	-	4	413	c.346C>A	c.(346-348)CTG>ATG	p.L116M	UBTF_uc002igc.2_Missense_Mutation_p.L116M|UBTF_uc010czs.2_Missense_Mutation_p.L116M|UBTF_uc002igd.2_Missense_Mutation_p.L116M|UBTF_uc010czt.2_Missense_Mutation_p.L116M|UBTF_uc002ige.2_Missense_Mutation_p.L116M	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	116	HMG box 1.				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TAAGGGGTCAGGGGCTTCTTT	0.502000												
GPATCH8	23131	broad.mit.edu	37	17	42476878	42476878	+	Missense_Mutation	SNP	G	G	T	rs145134773		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:42476878G>T	uc002igw.1	-	8	2631	c.2567C>A	c.(2566-2568)TCT>TAT	p.S856Y	GPATCH8_uc002igv.1_Missense_Mutation_p.S778Y|GPATCH8_uc010wiz.1_Missense_Mutation_p.S778Y	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	856	Ser-rich.					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)		GCGCCGGCCAGACCTTGAGCG	0.562000												
KIF18B	146909	broad.mit.edu	37	17	43009431	43009431	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:43009431G>A	uc010wji.1	-	10	1519	c.1418C>T	c.(1417-1419)GCT>GTT	p.A473V	KIF18B_uc002iht.2_Missense_Mutation_p.A473V|KIF18B_uc010wjh.1_Missense_Mutation_p.A461V	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				TACCTCCTCAGCTGGGCCTTC	0.587000												
NSF	4905	broad.mit.edu	37	17	44828940	44828940	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:44828940A>G	uc002iku.2	+	19	2219	c.2115A>G	c.(2113-2115)ATA>ATG	p.I705M	NSF_uc010wke.1_Missense_Mutation_p.I611M|NSF_uc010wkf.1_Missense_Mutation_p.I611M|NSF_uc010wkg.1_Missense_Mutation_p.I700M	NM_006178	NP_006169	P46459	NSF_HUMAN	vesicle-fusing ATPase	705					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			ovary(1)	1		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		AGGTCTGGATAGGAATCAAGA	0.423000												
WNT9B	7484	broad.mit.edu	37	17	44950021	44950021	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:44950021C>T	uc002ikw.1	+	2	253	c.216C>T	c.(214-216)CCC>CCT	p.P72P	WNT9B_uc002ikx.1_Silent_p.P72P	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	72					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGAGGGAGCCCGGCCTGGCTG	0.682000												
C17orf57	124989	broad.mit.edu	37	17	45517967	45517967	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:45517967G>A	uc002iln.2	+	25	3220	c.2809G>A	c.(2809-2811)GTA>ATA	p.V937I		NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	937							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						TAAAGCACAGGTAAGTAAGAA	0.303000												
TBKBP1	9755	broad.mit.edu	37	17	45787930	45787930	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:45787930G>A	uc002ilu.2	+	9	2635	c.1786G>A	c.(1786-1788)GGG>AGG	p.G596R		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	596					innate immune response						0						TTTCCCTGTCGGGTACCCGGA	0.592000												
XYLT2	64132	broad.mit.edu	37	17	48434049	48434049	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:48434049A>G	uc002iqo.2	+	8	1769	c.1660A>G	c.(1660-1662)ATG>GTG	p.M554V	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	554	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)					CAGTGATGTCATGCTCACTGC	0.652000												
ABCC3	8714	broad.mit.edu	37	17	48753735	48753735	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:48753735C>T	uc002isl.2	+	23	3244	c.3164C>T	c.(3163-3165)TCG>TTG	p.S1055L	ABCC3_uc002isn.2_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1055	Cytoplasmic (By similarity).|ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AAGATACGCTCGCCACAGTCC	0.577000												
SUPT4H1	6827	broad.mit.edu	37	17	56424577	56424577	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:56424577C>T	uc002iwe.1	-	4	325	c.258G>A	c.(256-258)GCG>GCA	p.A86A	uc010dct.1_Intron|uc010dcu.1_Intron|uc002ivz.2_Intron|uc010dcv.1_Intron|uc002iwa.2_Intron|uc002iwb.2_Intron|uc002iwc.2_Intron|SUPT4H1_uc002iwd.1_RNA	NM_003168	NP_003159	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1	86					chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGACTGACACCGCATATACAC	0.274000												
RNF43	54894	broad.mit.edu	37	17	56436149	56436149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:56436149G>A	uc002iwf.2	-	8	2944	c.988C>T	c.(988-990)CGA>TGA	p.R330*	RNF43_uc010wnv.1_Nonsense_Mutation_p.R289*|RNF43_uc002iwh.3_Nonsense_Mutation_p.R330*|RNF43_uc002iwg.3_Nonsense_Mutation_p.R330*|RNF43_uc010dcw.2_Nonsense_Mutation_p.R203*	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	330	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTAAGATCGAGAGGGTCCC	0.522000												
RNF43	54894	broad.mit.edu	37	17	56437515	56437515	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:56437515A>G	uc002iwf.2	-	7	2903	c.947T>C	c.(946-948)ATC>ACC	p.I316T	RNF43_uc010wnv.1_Missense_Mutation_p.I275T|RNF43_uc002iwh.3_Missense_Mutation_p.I316T|RNF43_uc002iwg.3_Missense_Mutation_p.I316T|RNF43_uc010dcw.2_Missense_Mutation_p.I189T	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	ring finger protein 43 precursor	316	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			ovary(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTACCTGTGATGTTGAACAT	0.557000												
PPM1E	22843	broad.mit.edu	37	17	57058168	57058168	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:57058168A>G	uc002iwx.2	+	7	2171	c.2044A>G	c.(2044-2046)AGG>GGG	p.R682G	PPM1E_uc010ddd.2_Missense_Mutation_p.R445G	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	691					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GCACAGATTCAGGTTTAATCC	0.428000												
DHX40	79665	broad.mit.edu	37	17	57684403	57684403	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:57684403C>T	uc002ixn.1	+	18	2357	c.2210C>T	c.(2209-2211)TCG>TTG	p.S737L	DHX40_uc010woe.1_Missense_Mutation_p.S660L|DHX40_uc010wof.1_Missense_Mutation_p.S252L	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	737							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GATGGAATATCGAAAGACGTC	0.373000												
CLTC	1213	broad.mit.edu	37	17	57743872	57743872	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:57743872T>C	uc002ixq.1	+	12	2257	c.1814T>C	c.(1813-1815)TTC>TCC	p.F605S	CLTC_uc002ixp.2_Missense_Mutation_p.F605S|CLTC_uc002ixr.1_Missense_Mutation_p.F609S	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	605	Heavy chain arm.|Distal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATCAGATGTTCACACATTAT	0.388000			T	ALK|TFE3	ALCL|renal 							
HEATR6	63897	broad.mit.edu	37	17	58136828	58136828	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:58136828G>A	uc002iyk.1	-	11	1695	c.1678C>T	c.(1678-1680)CTG>TTG	p.L560L	HEATR6_uc010ddk.1_Silent_p.L99L|HEATR6_uc010wos.1_Silent_p.L392L	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	560	HEAT 4.						binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ACTTTGGTCAGCAGGCTGAGT	0.388000												
MRC2	9902	broad.mit.edu	37	17	60741989	60741989	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:60741989G>A	uc002jad.2	+	2	601	c.199G>A	c.(199-201)GCT>ACT	p.A67T	MRC2_uc002jac.2_Missense_Mutation_p.A67T	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	67	Extracellular (Potential).|Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						AGTCACCCCGGCTTGCAATAC	0.632000												
STRADA	92335	broad.mit.edu	37	17	61781922	61781922	+	Silent	SNP	G	G	A	rs147552949		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:61781922G>A	uc002jbm.2	-	11	1038	c.879C>T	c.(877-879)AAC>AAT	p.N293N	STRADA_uc002jbn.2_Silent_p.N235N|STRADA_uc002jbo.2_Silent_p.N256N|STRADA_uc002jbp.2_Silent_p.N256N|STRADA_uc002jbq.2_Silent_p.N235N|STRADA_uc010wpq.1_Silent_p.N249N|STRADA_uc010wpr.1_Silent_p.N264N|STRADA_uc010ddw.2_Silent_p.N264N|STRADA_uc002jbr.2_3'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	293	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|kinase binding|protein kinase activity			ovary(1)	1						GCACTGTGCCGTTCAGTTTCT	0.632000												
CCDC45	90799	broad.mit.edu	37	17	62525505	62525505	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:62525505G>A	uc002jem.2	+	12	1464	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.R305H	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	469						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AAAAGGCAGCGCAAGCCAAGA	0.498000												
USH1G	124590	broad.mit.edu	37	17	72916266	72916266	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:72916266C>T	uc002jme.1	-	2	848	c.665G>A	c.(664-666)CGG>CAG	p.R222Q	USH1G_uc010wro.1_Missense_Mutation_p.R119Q	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	222					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton				skin(2)	2	all_lung(278;0.172)|Lung NSC(278;0.207)					CTGCTTGCGCCGCTCCAGCTT	0.682000												
RECQL5	9400	broad.mit.edu	37	17	73627686	73627686	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:73627686C>T	uc010dgl.2	-	9	1448	c.1292G>A	c.(1291-1293)TGC>TAC	p.C431Y	RECQL5_uc010dgk.2_Missense_Mutation_p.C404Y|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	431					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)			GCAGTGGTCGCAGCCTTTGGC	0.697000								Other_identified_genes_with_known_or_suspected_DNA_repair_function				
PRPSAP1	5635	broad.mit.edu	37	17	74324878	74324878	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:74324878G>A	uc010wta.1	-	7	1147	c.701C>T	c.(700-702)ACG>ATG	p.T234M	PRPSAP1_uc010wtb.1_Missense_Mutation_p.T131M	NM_002766	NP_002757	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate	205					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			ovary(1)	1						GTCCAGTTCCGTGCACTGAGC	0.547000												
USP36	57602	broad.mit.edu	37	17	76798447	76798447	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:76798447C>T	uc002jvz.1	-	17	3306	c.2981G>A	c.(2980-2982)TGC>TAC	p.C994Y	USP36_uc002jwa.1_Missense_Mutation_p.C994Y|USP36_uc002jwb.1_Missense_Mutation_p.C606Y|USP36_uc002jvy.1_Missense_Mutation_p.C54Y	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	992					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGATGGTGCGCAGCTGCTGGA	0.642000												
RNF213	57674	broad.mit.edu	37	17	78319326	78319326	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:78319326C>A	uc002jyh.1	+	4	1633	c.1410C>A	c.(1408-1410)ACC>ACA	p.T470T		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCTCACAACCGACAATATGC	0.507000												
C17orf56	146705	broad.mit.edu	37	17	79202797	79202797	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:79202797C>T	uc002jzu.1	-	12	1531	c.1509G>A	c.(1507-1509)TCG>TCA	p.S503S	C17orf56_uc002jzr.1_Silent_p.S173S|C17orf56_uc002jzs.1_Silent_p.S419S|C17orf56_uc002jzt.1_Silent_p.S419S|C17orf56_uc002jzv.1_Silent_p.S351S|uc002jzw.1_RNA	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	503						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCTCTGGGACGATGTTTGGG	0.657000												
NPLOC4	55666	broad.mit.edu	37	17	79573742	79573742	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:79573742G>A	uc002kat.3	-	7	811	c.629C>T	c.(628-630)CCG>CTG	p.P210L	NPLOC4_uc002kau.3_Missense_Mutation_p.P210L|NPLOC4_uc010wur.1_Missense_Mutation_p.P49L	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4	210					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GATGGCGCTCGGCTGGCACTT	0.532000												
PYCR1	5831	broad.mit.edu	37	17	79894022	79894022	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:79894022G>A	uc002kcr.1	-	2	393	c.115C>T	c.(115-117)CTG>TTG	p.L39L	PYCR1_uc002kcq.1_Silent_p.L39L|PYCR1_uc002kcp.2_Silent_p.L39L|PYCR1_uc002kcs.1_Silent_p.L39L|PYCR1_uc010wvd.1_Silent_p.L66L|PYCR1_uc002kct.1_Silent_p.L39L|PYCR1_uc002kcu.1_Silent_p.L39L|PYCR1_uc010wve.1_5'Flank	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	39					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	ACTGTGGCCAGGTCCATGTCT	0.493000												
ASPSCR1	79058	broad.mit.edu	37	17	79968693	79968693	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:79968693C>A	uc002kcx.2	+	10	1283	c.1186C>A	c.(1186-1188)CTG>ATG	p.L396M	ASPSCR1_uc002kcw.1_Missense_Mutation_p.L396M|ASPSCR1_uc002kcy.2_Missense_Mutation_p.L396M|ASPSCR1_uc002kcz.2_Missense_Mutation_p.L290M|ASPSCR1_uc002kda.2_Missense_Mutation_p.L319M	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	396	UBX.						protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCTGAGGGTCCTGTTCCCCGA	0.701000			T	TFE3	alveolar soft part sarcoma							
CCDC57	284001	broad.mit.edu	37	17	80085655	80085655	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:80085655C>T	uc002kdx.1	-	16	2513	c.2476G>A	c.(2476-2478)GCC>ACC	p.A826T	CCDC57_uc002kdy.2_Missense_Mutation_p.A133T	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	827										ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTGCCACTGGCAAAGGAGGAG	0.602000												
CD7	924	broad.mit.edu	37	17	80274765	80274765	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:80274765G>T	uc002kel.1	-	2	284	c.175C>A	c.(175-177)CTG>ATG	p.L59M	CD7_uc010din.2_Missense_Mutation_p.L59M|CD7_uc002kem.2_Missense_Mutation_p.P40H|CD7_uc010wvk.1_Missense_Mutation_p.L59M	NM_006137	NP_006128	P09564	CD7_HUMAN	CD7 antigen precursor	59	Ig-like.|Extracellular (Probable).				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			AGCTGCCTCAGGTAGATCCCA	0.652000												
TUBB6	84617	broad.mit.edu	37	18	12325560	12325560	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:12325560G>A	uc002kqw.2	+	4	817	c.772G>A	c.(772-774)GTG>ATG	p.V258M	TUBB6_uc002kqv.2_Missense_Mutation_p.V186M|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.V221M|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	258					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		GGTGAACATGGTGCCCTTCCC	0.682000												
ROCK1	6093	broad.mit.edu	37	18	18566911	18566911	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:18566911T>G	uc002kte.2	-	19	3245	c.2304A>C	c.(2302-2304)GAA>GAC	p.E768D		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	768	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TTTTTCTTACTTCATCCTCCA	0.333000												
ZNF521	25925	broad.mit.edu	37	18	22805217	22805217	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:22805217C>T	uc002kvk.2	-	4	2912	c.2665G>A	c.(2665-2667)GAC>AAC	p.D889N	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.D889N|ZNF521_uc002kvl.2_Missense_Mutation_p.D669N	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	889	C2H2-type 21; degenerate.				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)					CCACAAATGTCGCAGCCGTAC	0.522000			T	PAX5	ALL							
FAM59A	64762	broad.mit.edu	37	18	29868123	29868123	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:29868123A>G	uc002kxl.2	-	4	493	c.437T>C	c.(436-438)ATC>ACC	p.I146T	FAM59A_uc002kxk.1_Missense_Mutation_p.I146T	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	146	CABIT.									ovary(1)|skin(1)	2						ACACAGGGTGATGTTGTAAAC	0.383000												
FHOD3	80206	broad.mit.edu	37	18	34298660	34298660	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:34298660G>T	uc002kzt.1	+	15	2920	c.2823G>T	c.(2821-2823)AAG>AAT	p.K941N	FHOD3_uc002kzs.1_Missense_Mutation_p.K958N|FHOD3_uc010dmz.1_Missense_Mutation_p.K673N|FHOD3_uc010dna.1_Missense_Mutation_p.K261N	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	941	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)				CTAAATCCAAGGAACTGTCTG	0.438000												
CELF4	56853	broad.mit.edu	37	18	34833844	34833844	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:34833844C>T	uc002lae.2	-	12	1787	c.1391G>A	c.(1390-1392)GGC>GAC	p.G464D	CELF4_uc010dnd.1_Missense_Mutation_p.G462D|CELF4_uc002lag.2_Missense_Mutation_p.G426D|CELF4_uc002laf.2_Missense_Mutation_p.G458D	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	464	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						GATCTGGAAGCCGTTCATGGC	0.647000												
SETBP1	26040	broad.mit.edu	37	18	42531906	42531906	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:42531906C>T	uc010dni.2	+	4	2897	c.2601C>T	c.(2599-2601)AGC>AGT	p.S867S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	867						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CGATCCCCAGCGACAGCGGCA	0.552000									Schinzel-Giedion_syndrome			
KIAA0427	9811	broad.mit.edu	37	18	46288052	46288052	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:46288052A>G	uc002ldc.2	+	9	1648	c.1363A>G	c.(1363-1365)ATG>GTG	p.M455V	KIAA0427_uc002ldd.2_Missense_Mutation_p.M457V|KIAA0427_uc002lde.3_Missense_Mutation_p.M84V	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	455	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						GCTCCTCAACATGCTGCAGGT	0.637000												
DCC	1630	broad.mit.edu	37	18	51052985	51052985	+	Splice_Site	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:51052985A>G	uc002lfe.1	+	28	4699	c.4112_splice	c.e28-2	p.G1371_splice	DCC_uc010dpf.1_Splice_Site_p.G1004_splice	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor						apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTTCTATTTCAGGGCCCACTC	0.448000												
WDR7	23335	broad.mit.edu	37	18	54483305	54483305	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:54483305T>C	uc002lgk.1	+	20	3445	c.3234T>C	c.(3232-3234)CCT>CCC	p.P1078P	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.P1045P	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1078										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		CCACGGCTCCTGATGCCTCAG	0.453000												
WDR7	23335	broad.mit.edu	37	18	54629676	54629676	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:54629676C>T	uc002lgk.1	+	26	4291	c.4080C>T	c.(4078-4080)AGC>AGT	p.S1360S	WDR7_uc002lgl.1_Silent_p.S1327S	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1360	WD 8.									ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		ACATGGTCAGCTATTATGAGC	0.428000												
ZNF516	9658	broad.mit.edu	37	18	74091691	74091691	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:74091691C>T	uc010dqx.1	-	3	2614	c.2379G>A	c.(2377-2379)CCG>CCA	p.P793P	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	793					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCTGAATCCACGGGGGAGCCA	0.592000												
ZNF236	7776	broad.mit.edu	37	18	74620360	74620360	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:74620360C>A	uc002lmi.2	+	14	2574	c.2376C>A	c.(2374-2376)GCC>GCA	p.A792A	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	792					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)		GCATGCAGGCCTCCACTCAAA	0.582000												
ZNF236	7776	broad.mit.edu	37	18	74639295	74639295	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:74639295G>T	uc002lmi.2	+	24	4428	c.4230G>T	c.(4228-4230)ACG>ACT	p.T1410T	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	0.552000												
SALL3	27164	broad.mit.edu	37	18	76753440	76753440	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:76753440G>A	uc002lmt.2	+	2	1449	c.1449G>A	c.(1447-1449)CCG>CCA	p.P483P	SALL3_uc010dra.2_Silent_p.P90P	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	483					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)		ACCCTTACCCGGTCCCCGAGT	0.622000												
ATP9B	374868	broad.mit.edu	37	18	77037089	77037089	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:77037089A>G	uc002lmx.2	+	13	1318	c.1304A>G	c.(1303-1305)TAT>TGT	p.Y435C	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.Y435C|ATP9B_uc002lmy.1_RNA|ATP9B_uc002lmz.1_Missense_Mutation_p.Y129C	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	435	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AAAGCGGTGTATGGATGGATG	0.493000												
PQLC1	80148	broad.mit.edu	37	18	77679353	77679353	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:77679353C>T	uc002lnl.2	-	5	611	c.439G>A	c.(439-441)GTG>ATG	p.V147M	PQLC1_uc010dre.2_Missense_Mutation_p.V64M|PQLC1_uc002lnk.2_Missense_Mutation_p.V129M|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	147	Helical; (Potential).					integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		ACGCACTGCACGTAGTCCGAG	0.622000												
POLRMT	5442	broad.mit.edu	37	19	617821	617821	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:617821C>T	uc002lpf.1	-	18	3507	c.3451G>A	c.(3451-3453)GAC>AAC	p.D1151N		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	1151	Mediates interaction with TEFM.	By similarity.			transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTAACAGTCGTGCACAGAG	0.642000												
MBD3	53615	broad.mit.edu	37	19	1578342	1578342	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:1578342G>A	uc002ltl.1	-	6	895	c.873C>T	c.(871-873)GTC>GTT	p.V291V	uc002lti.1_5'Flank|MBD3_uc002ltj.2_Silent_p.V291V|MBD3_uc002ltk.2_Silent_p.V259V	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	291					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGCCCTAGACGTGCTCCA	0.557000												
DOT1L	84444	broad.mit.edu	37	19	2193687	2193687	+	Splice_Site	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:2193687G>A	uc002lvb.3	+	6	530	c.494_splice	c.e6-1	p.G165_splice		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase							nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGATCATAGGTGTGGGCCA	0.582000												
DOT1L	84444	broad.mit.edu	37	19	2213960	2213960	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:2213960C>T	uc002lvb.3	+	18	1808	c.1772C>T	c.(1771-1773)GCG>GTG	p.A591V	DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	591						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACAACCGCGCGCTCCGCGGC	0.677000												
LINGO3	645191	broad.mit.edu	37	19	2291504	2291504	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:2291504G>A	uc010dsx.1	-	2	400	c.272C>T	c.(271-273)GCG>GTG	p.A91V	SPPL2B_uc010dsw.1_Intron|uc002lvo.1_Missense_Mutation_p.R106H	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	91	LRR 2.|Extracellular (Potential).					integral to membrane					0						CTCCACGTGCGCGATGGCGTT	0.726000												
GNG7	2788	broad.mit.edu	37	19	2515096	2515096	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:2515096C>T	uc002lwd.2	-	5	368	c.131G>A	c.(130-132)CGG>CAG	p.R44Q	GNG7_uc010dte.1_Intron	NM_052847	NP_443079	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein),	44					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTCGTTCCGGGCATGTTG	0.408000												
ZNF57	126295	broad.mit.edu	37	19	2917413	2917413	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:2917413C>T	uc002lwr.2	+	4	942	c.794C>T	c.(793-795)TCG>TTG	p.S265L	ZNF57_uc010xha.1_Missense_Mutation_p.S233L	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	265	C2H2-type 4.				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)		ATTTATCCCTCGACATTTCAA	0.448000												
TJP3	27134	broad.mit.edu	37	19	3733835	3733835	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:3733835G>A	uc010xhv.1	+	6	859	c.859G>A	c.(859-861)GTG>ATG	p.V287M	TJP3_uc010xhs.1_Missense_Mutation_p.V268M|TJP3_uc010xht.1_Missense_Mutation_p.V232M|TJP3_uc010xhu.1_Missense_Mutation_p.V277M|TJP3_uc010xhw.1_Missense_Mutation_p.V287M	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	268	PDZ 2.					tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCCTGCTGGTGCTGAGAGA	0.567000												
ANKRD24	170961	broad.mit.edu	37	19	4217166	4217166	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:4217166C>T	uc010dtt.1	+	18	2285	c.2009C>T	c.(2008-2010)ACA>ATA	p.T670I	ANKRD24_uc002lzs.2_Missense_Mutation_p.T641I|ANKRD24_uc002lzt.2_Missense_Mutation_p.T642I	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	670											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ACAGGGACCACAAACATGGAG	0.622000												
UBXN6	80700	broad.mit.edu	37	19	4445590	4445590	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:4445590C>T	uc002man.1	-	11	1327	c.1231G>A	c.(1231-1233)GAC>AAC	p.D411N	UBXN6_uc010dty.1_Missense_Mutation_p.D315N|UBXN6_uc002mam.1_Missense_Mutation_p.D358N	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	411						microtubule organizing center|nucleus	protein binding				0						ACAGCCATGTCCCACGAGAAG	0.642000												
TICAM1	148022	broad.mit.edu	37	19	4817190	4817190	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:4817190G>T	uc002mbi.2	-	2	1451	c.1200C>A	c.(1198-1200)CTC>CTA	p.L400L		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	400	TIR.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCTGGCGTGGAGGATCACAA	0.577000												
KDM4B	23030	broad.mit.edu	37	19	5110750	5110750	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:5110750C>T	uc002mbq.3	+	10	1262	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W	KDM4B_uc010xil.1_Missense_Mutation_p.R346W|KDM4B_uc010xim.1_Missense_Mutation_p.R346W|KDM4B_uc002mbr.3_Missense_Mutation_p.R104W	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	346					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						GGACCACACGCGGCCCACGGC	0.662000												
CD70	970	broad.mit.edu	37	19	6590986	6590986	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:6590986C>T	uc002mfi.2	-	1	178	c.28G>A	c.(28-30)GTG>ATG	p.V10M	CD70_uc010xjf.1_Missense_Mutation_p.V10M	NM_001252	NP_001243	P32970	CD70_HUMAN	tumor necrosis factor ligand superfamily, member	10	Cytoplasmic (Potential).				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding				0						CTGCGCCGCACCGAGCAGCCC	0.697000												
EVI5L	115704	broad.mit.edu	37	19	7928374	7928374	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:7928374C>T	uc002min.2	+	19	2325	c.2171C>T	c.(2170-2172)GCG>GTG	p.A724V	EVI5L_uc010xjz.1_Missense_Mutation_p.A735V	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	724						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						CTGAGCCTGGCGCGGCACTTG	0.716000												
MAP2K7	5609	broad.mit.edu	37	19	7975260	7975260	+	Splice_Site	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:7975260T>C	uc002mit.2	+	4	512	c.447_splice	c.e4+2	p.K149_splice	MAP2K7_uc002miv.2_Splice_Site_p.K149_splice|MAP2K7_uc010xka.1_Splice_Site|MAP2K7_uc010xkb.1_Splice_Site_p.K149_splice|MAP2K7_uc010dvv.2_Splice_Site_p.K24_splice	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7						activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GCCGTTAAGGTGAGCCTTGGC	0.662000												
MAP2K7	5609	broad.mit.edu	37	19	7975970	7975970	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:7975970G>A	uc002mit.2	+	7	846	c.781G>A	c.(781-783)GAC>AAC	p.D261N	MAP2K7_uc002miv.2_Missense_Mutation_p.D261N|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.D261N|MAP2K7_uc010dvv.2_Missense_Mutation_p.D136N	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	261	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	CAAGCTCTGCGACTTCGGCAT	0.662000												
FBN3	84467	broad.mit.edu	37	19	8194245	8194245	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:8194245G>A	uc002mjf.2	-	16	2070	c.2049C>T	c.(2047-2049)ATC>ATT	p.I683I		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	683	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CACACTCGTTGATGTCTGCGG	0.612000												
MUC16	94025	broad.mit.edu	37	19	9024942	9024942	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:9024942T>C	uc002mkp.2	-	16	37124	c.36920A>G	c.(36919-36921)GAC>GGC	p.D12307G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12309	SEA 2.|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						GCTTTTGGGGTCAAGGCGGTG	0.547000												
MUC16	94025	broad.mit.edu	37	19	9046900	9046900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:9046900C>T	uc002mkp.2	-	5	34935	c.34731G>A	c.(34729-34731)TGG>TGA	p.W11577*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11579	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						GATGAGTGAGCCACGTGGCTG	0.522000												
MUC16	94025	broad.mit.edu	37	19	9068944	9068944	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:9068944C>A	uc002mkp.2	-	3	18706	c.18502G>T	c.(18502-18504)GGC>TGC	p.G6168C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6170	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						GTCAGTTGGCCAAGAGATGTC	0.488000												
MUC16	94025	broad.mit.edu	37	19	9076908	9076908	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:9076908G>A	uc002mkp.2	-	3	10742	c.10538C>T	c.(10537-10539)GCT>GTT	p.A3513V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3514	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						TAGATGCCCAGCAGTAGGGGC	0.512000												
OLFM2	93145	broad.mit.edu	37	19	9965341	9965341	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:9965341G>A	uc002mmp.2	-	6	914	c.886C>T	c.(886-888)CGC>TGC	p.R296C	OLFM2_uc002mmo.2_Missense_Mutation_p.R218C	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	296	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						AGCACAGAGCGCGAGCGGAAG	0.622000												
ICAM5	7087	broad.mit.edu	37	19	10404943	10404943	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:10404943G>A	uc002mnu.3	+	8	2004	c.1939G>A	c.(1939-1941)GCC>ACC	p.A647T	ICAM5_uc002mnv.3_Missense_Mutation_p.A522T	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	647	Extracellular (Potential).|Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGTCTGCAACGCCACCAACCG	0.682000												
ECSIT	51295	broad.mit.edu	37	19	11617215	11617215	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:11617215G>A	uc002msb.2	-	8	1214	c.1080C>T	c.(1078-1080)TGC>TGT	p.C360C	ZNF653_uc002mrz.1_5'Flank|ECSIT_uc002msa.1_RNA|ECSIT_uc010dyc.1_3'UTR|ECSIT_uc010dyd.2_3'UTR|ECSIT_uc010xma.1_Silent_p.C146C	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	evolutionarily conserved signaling intermediate	360					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			ovary(1)	1						CACCCGCCATGCACATGGCGA	0.607000												
ZNF625	90589	broad.mit.edu	37	19	12257031	12257031	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:12257031A>G	uc002mth.2	-	4	352	c.2T>C	c.(1-3)ATG>ACG	p.M1T	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.M35T	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCTCTCTCCCATAAGACCTCT	0.368000												
DHPS	1725	broad.mit.edu	37	19	12790343	12790343	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:12790343C>T	uc002muh.1	-	5	703	c.606G>A	c.(604-606)ACG>ACA	p.T202T	DHPS_uc002muf.1_Silent_p.T79T|DHPS_uc002mug.1_Silent_p.T160T|DHPS_uc002mui.1_Silent_p.T202T|DHPS_uc002muj.1_Silent_p.T202T|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA	NM_001930	NP_001921	P49366	DHYS_HUMAN	deoxyhypusine synthase isoform a	202					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)	1					Sulfadoxine(DB01299)	TCTTAGAAGGCGTCCACTTTA	0.592000												
C19orf43	79002	broad.mit.edu	37	19	12841822	12841822	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:12841822C>T	uc002muu.2	-	3	542	c.484G>A	c.(484-486)GCT>ACT	p.A162T		NM_024038	NP_076943	Q9BQ61	CS043_HUMAN	hypothetical protein MGC2803	162											0						CACTGGTGAGCTTTGTACTTT	0.542000												
MAST1	22983	broad.mit.edu	37	19	12969475	12969475	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:12969475G>A	uc002mvm.2	+	12	1416	c.1288G>A	c.(1288-1290)GAG>AAG	p.E430K	MAST1_uc002mvk.2_Missense_Mutation_p.E426K	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	430	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						CACCTTCGCCGAGAACCCGTT	0.572000												
AKAP8L	26993	broad.mit.edu	37	19	15512143	15512143	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:15512143T>C	uc002naw.1	-	5	733	c.634A>G	c.(634-636)ATG>GTG	p.M212V	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.M151V|AKAP8L_uc002nay.1_Missense_Mutation_p.M212V|AKAP8L_uc002naz.2_Missense_Mutation_p.M60V	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	212						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1						GCACCAGACATGCACTGGCCC	0.706000												
SIN3B	23309	broad.mit.edu	37	19	16942458	16942458	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:16942458G>T	uc002ney.1	+	3	395	c.381G>T	c.(379-381)CAG>CAT	p.Q127H	SIN3B_uc002new.2_Missense_Mutation_p.Q127H|SIN3B_uc002nex.2_Missense_Mutation_p.Q59H|SIN3B_uc002nez.1_Missense_Mutation_p.Q127H	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	127					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						TGACAAGCCAGGTATGCCACT	0.483000												
SIN3B	23309	broad.mit.edu	37	19	16980513	16980513	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:16980513G>A	uc002ney.1	+	14	2159	c.2145G>A	c.(2143-2145)GAG>GAA	p.E715E	SIN3B_uc002nez.1_Silent_p.E683E|SIN3B_uc010xpi.1_Silent_p.E273E	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	715					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						CAGCTGATGAGGACCGGGACA	0.672000												
MYO9B	4650	broad.mit.edu	37	19	17283255	17283255	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:17283255C>T	uc010eak.2	+	12	2055	c.1903C>T	c.(1903-1905)CAC>TAC	p.H635Y	MYO9B_uc002nfi.2_Missense_Mutation_p.H635Y|MYO9B_uc002nfj.1_Missense_Mutation_p.H635Y	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	635	Myosin head-like.				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						CATCATCCAGCACTTCGCAGG	0.557000												
USE1	55850	broad.mit.edu	37	19	17330563	17330563	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:17330563G>A	uc002nfo.2	+	8	781	c.721G>A	c.(721-723)GTC>ATC	p.V241I	USE1_uc010eal.1_3'UTR	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog	241	Helical; Anchor for type IV membrane protein; (Potential).				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding				0						GCTCATTATCGTCTGCTTCAT	0.527000												
FAM129C	199786	broad.mit.edu	37	19	17648229	17648229	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:17648229G>A	uc010xpr.1	+	6	703	c.565G>A	c.(565-567)GTG>ATG	p.V189M	FAM129C_uc010xpq.1_Missense_Mutation_p.V189M|FAM129C_uc010xps.1_Missense_Mutation_p.V158M|FAM129C_uc010xpt.1_RNA|FAM129C_uc002ngy.3_5'Flank|FAM129C_uc010xpu.1_5'Flank|FAM129C_uc002ngz.3_5'Flank|FAM129C_uc010eaw.2_5'Flank|FAM129C_uc002nhb.2_5'Flank	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	189											0						GGAAGTGCCTGTGAGCTTCCC	0.562000												
KIAA1683	80726	broad.mit.edu	37	19	18368642	18368642	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:18368642C>T	uc002nin.2	-	4	3107	c.2891G>A	c.(2890-2892)CGT>CAT	p.R964H	PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.R1151H|KIAA1683_uc010xqe.1_Missense_Mutation_p.R918H|KIAA1683_uc010xqf.1_RNA	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	964	IQ 3.					mitochondrion				ovary(2)	2						CCGCCGCACACGGTAGCCGCG	0.692000												
ELL	8178	broad.mit.edu	37	19	18557279	18557279	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:18557279G>A	uc002njh.2	-	10	1616	c.1544C>T	c.(1543-1545)GCC>GTC	p.A515V	ELL_uc010ebq.2_Missense_Mutation_p.A458V|ELL_uc002njg.2_Missense_Mutation_p.A382V	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	515					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGAGGAGATGGCTGCGTACTT	0.637000			T	MLL	AL							
DDX49	54555	broad.mit.edu	37	19	19032668	19032668	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:19032668G>A	uc002nkq.1	+	4	399	c.342G>A	c.(340-342)GCG>GCA	p.A114A	COPE_uc002nkk.2_5'Flank|COPE_uc002nkl.2_5'Flank|COPE_uc002nkm.2_5'Flank|COPE_uc002nkn.2_5'Flank|HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Silent_p.A7A|DDX49_uc002nkt.1_5'UTR	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	114	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			Epithelial(12;0.0289)			TGGCCCAGGCGCTGGAGCTCT	0.632000												
CCNE1	898	broad.mit.edu	37	19	30311678	30311678	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:30311678G>A	uc002nsn.2	+	7	715	c.532G>A	c.(532-534)GCG>ACG	p.A178T	CCNE1_uc002nso.2_Missense_Mutation_p.A163T|CCNE1_uc002nsp.2_5'Flank	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	178					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CCGGTATATGGCGACACAAGA	0.323000												
WDR88	126248	broad.mit.edu	37	19	33623259	33623259	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:33623259G>A	uc002nui.2	+	1	262	c.184G>A	c.(184-186)GCC>ACC	p.A62T		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	62										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					CGACCCCCTGGCCTTGGACAG	0.637000												
WDR88	126248	broad.mit.edu	37	19	33666454	33666454	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:33666454G>A	uc002nui.2	+	11	1473	c.1395G>A	c.(1393-1395)CCG>CCA	p.P465P		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	465										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					ACTCACCGCCGCCAAGGGGAA	0.537000												
CHST8	64377	broad.mit.edu	37	19	34263265	34263265	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:34263265G>A	uc002nus.3	+	5	1077	c.572G>A	c.(571-573)CGC>CAC	p.R191H	CHST8_uc002nut.3_Missense_Mutation_p.R191H|CHST8_uc002nuu.2_Missense_Mutation_p.R191H	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	191	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					GACCGCCACCGCGTGCTCTAC	0.701000												
CHST8	64377	broad.mit.edu	37	19	34263278	34263278	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:34263278C>T	uc002nus.3	+	5	1090	c.585C>T	c.(583-585)TGC>TGT	p.C195C	CHST8_uc002nut.3_Silent_p.C195C|CHST8_uc002nuu.2_Silent_p.C195C	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	195	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					TGCTCTACTGCGAGGTGCCCA	0.692000												
SCGBL	284402	broad.mit.edu	37	19	35085149	35085149	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:35085149G>A	uc002nvn.2	-	2	199	c.177C>T	c.(175-177)TCC>TCT	p.S59S		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	secretoglobin-like precursor	59						extracellular region	binding				0						CATTGAGGAAGGACTCCTCTG	0.498000												
ZNF302	55900	broad.mit.edu	37	19	35175800	35175800	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:35175800A>G	uc002nvr.1	+	6	1253	c.990A>G	c.(988-990)GAA>GAG	p.E330E	ZNF302_uc002nvp.1_Silent_p.E286E|ZNF302_uc002nvq.1_Silent_p.E286E|ZNF302_uc002nvs.1_Silent_p.E286E	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	zinc finger protein 302	365	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AACCGTATGAATGTATGAACT	0.423000												
FAM187B	148109	broad.mit.edu	37	19	35719007	35719007	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:35719007G>A	uc002nyk.1	-	1	622	c.577C>T	c.(577-579)CGG>TGG	p.R193W		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	193	Extracellular (Potential).					integral to membrane				ovary(2)	2						AGCTCAGGCCGCAAGCGGCTA	0.557000												
HAUS5	23354	broad.mit.edu	37	19	36109010	36109010	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:36109010C>T	uc002oam.1	+	10	785	c.734C>T	c.(733-735)GCT>GTT	p.A245V		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	245					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0						CACGTCCTGGCTGCCTTGGAG	0.657000												
TBCB	1155	broad.mit.edu	37	19	36611634	36611634	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:36611634G>A	uc002odg.1	+	3	856	c.281G>A	c.(280-282)CGC>CAC	p.R94H	TBCB_uc002odh.1_Missense_Mutation_p.R75H	NM_001281	NP_001272	Q99426	TBCB_HUMAN	cytoskeleton associated protein 1	94					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGTGGCGCCCGCCTTGGTGAG	0.637000												
LGALS4	3960	broad.mit.edu	37	19	39294176	39294176	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:39294176G>T	uc002ojg.2	-	7	770	c.556C>A	c.(556-558)CCA>ACA	p.P186T	LGALS4_uc010xuj.1_3'UTR	NM_006149	NP_006140	P56470	LEG4_HUMAN	galectin-4	186					cell adhesion	cytosol|plasma membrane	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTGAAGGTTGGGGGTCCTTCC	0.532000												
LRFN1	57622	broad.mit.edu	37	19	39799075	39799075	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:39799075G>A	uc002okw.2	-	2	1514	c.1514C>T	c.(1513-1515)CCG>CTG	p.P505L		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	505	Fibronectin type-III.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCGCGTTGCCGGCAGCGCTGT	0.677000												
SAMD4B	55095	broad.mit.edu	37	19	39870681	39870681	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:39870681C>T	uc002olb.2	+	12	2641	c.1606C>T	c.(1606-1608)CGC>TGC	p.R536C	SAMD4B_uc002ola.2_Missense_Mutation_p.R536C	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	536							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GACATTCCCGCGCAAAGCCGC	0.572000												
PSMC4	5704	broad.mit.edu	37	19	40480513	40480513	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:40480513G>A	uc002omq.2	+	5	589	c.552G>A	c.(550-552)CCG>CCA	p.P184P	PSMC4_uc002omr.2_Silent_p.P153P	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	184					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGAGCTCCCGCTCACGCATT	0.632000												
SERTAD3	29946	broad.mit.edu	37	19	40947828	40947828	+	Silent	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:40947828T>G	uc002onu.3	-	2	438	c.160A>C	c.(160-162)AGG>CGG	p.R54R	SERTAD3_uc002onv.3_Silent_p.R54R	NM_013368	NP_037500	Q9UJW9	SRTD3_HUMAN	RPA-binding trans-activator	54	SERTA.				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGACATGCCTGCGGAGGCTG	0.672000												
SPTBN4	57731	broad.mit.edu	37	19	41062146	41062146	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:41062146G>A	uc002ony.2	+	25	5327	c.5241G>A	c.(5239-5241)GAG>GAA	p.E1747E	SPTBN4_uc002onx.2_Silent_p.E1747E|SPTBN4_uc002onz.2_Silent_p.E1747E|SPTBN4_uc010egx.2_Silent_p.E490E|SPTBN4_uc002ooa.2_Silent_p.E423E	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1747	Spectrin 15.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCGAGAAGGAGGTGGTGGCTG	0.552000												
CYP2A13	1553	broad.mit.edu	37	19	41600201	41600201	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:41600201A>C	uc002opt.2	+	7	1034	c.1025A>C	c.(1024-1026)AAG>ACG	p.K342T		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A,	342					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			ovary(2)|skin(1)	3					Clomipramine(DB01242)|Nicotine(DB00184)	CGGCAGCCCAAGTTTGAGGAC	0.562000												
CCDC97	90324	broad.mit.edu	37	19	41822288	41822288	+	Splice_Site	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:41822288G>T	uc002oqg.2	+	2	169	c.47_splice	c.e2-1	p.G16_splice	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97												0						CCTTTCCTCAGGCTGCATAGA	0.463000												
B9D2	80776	broad.mit.edu	37	19	41863901	41863901	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:41863901C>T	uc002oqj.2	-	3	335	c.115G>A	c.(115-117)GTG>ATG	p.V39M	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Intron	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	39	B9.				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			ovary(1)	1						CCCTCCCGCACGCCTGACAGG	0.632000												
DMRTC2	63946	broad.mit.edu	37	19	42354596	42354596	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:42354596C>A	uc002ors.2	+	8	902	c.819C>A	c.(817-819)GCC>GCA	p.A273A	DMRTC2_uc002orr.1_Silent_p.A201A|DMRTC2_uc010xwe.1_Silent_p.A324A	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	273	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						CCTTGCAGGCCTCTGGAGCCT	0.602000												
CIC	23152	broad.mit.edu	37	19	42798378	42798378	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:42798378C>T	uc002otf.1	+	18	4289	c.4249C>T	c.(4249-4251)CGC>TGC	p.R1417C		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GATGAGAAGACGCTCCAGCTG	0.612000			T	DUX4	soft tissue sarcoma							
CADM4	199731	broad.mit.edu	37	19	44130991	44130991	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:44130991C>T	uc002oxc.1	-	4	493	c.444G>A	c.(442-444)CCG>CCA	p.P148P		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4 precursor	148	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	integral to membrane					0		Prostate(69;0.0199)				GACGGGACCGCGGAACGAGGC	0.687000												
SFRS16	11129	broad.mit.edu	37	19	45573322	45573322	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:45573322C>T	uc002pak.2	+	19	2015	c.1917C>T	c.(1915-1917)CGC>CGT	p.R639R	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Silent_p.R577R|SFRS16_uc002pam.2_Silent_p.R620R	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	639	Potential.|Arg-rich.				mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGTGGGAACGCCAGTACAGCC	0.607000												
MARK4	57787	broad.mit.edu	37	19	45797635	45797635	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:45797635G>A	uc002pbb.1	+	14	1528	c.1523G>A	c.(1522-1524)CGC>CAC	p.R508H	MARK4_uc002pba.1_Missense_Mutation_p.R508H			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	508					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATGATGACCCGCAGAAACACC	0.587000												
IRF2BP1	26145	broad.mit.edu	37	19	46387358	46387358	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:46387358C>T	uc002pds.1	-	1	2019	c.1675G>A	c.(1675-1677)GTG>ATG	p.V559M		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GCCCAGGGCACGGAGGAGCCG	0.637000												
PNMAL1	55228	broad.mit.edu	37	19	46973314	46973314	+	Missense_Mutation	SNP	C	C	T	rs146703714	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:46973314C>T	uc002peq.3	-	2	1285	c.979G>A	c.(979-981)GAG>AAG	p.E327K	PNMAL1_uc002per.3_Missense_Mutation_p.E327K	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	327											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCTGGGCTCTCGGCTTCTGCC	0.607000												
MEIS3	56917	broad.mit.edu	37	19	47912499	47912499	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:47912499C>T	uc002pgu.2	-	8	1162	c.715G>A	c.(715-717)GGG>AGG	p.G239R	MEIS3_uc010xyp.1_5'Flank|MEIS3_uc002pgo.2_Missense_Mutation_p.G38R|MEIS3_uc002pgp.2_Missense_Mutation_p.G71R|MEIS3_uc002pgq.2_Missense_Mutation_p.G320R|MEIS3_uc002pgr.2_Missense_Mutation_p.G107R|MEIS3_uc002pgt.2_Missense_Mutation_p.G222R|MEIS3_uc002pgv.2_Missense_Mutation_p.G222R|MEIS3_uc002pgs.2_Missense_Mutation_p.G239R|MEIS3_uc010eld.2_Missense_Mutation_p.G239R	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Meis1, myeloid ecotropic viral integration site	239	Ser/Thr-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTGTCCAGCCCGTCTCCTGAG	0.602000												
TMEM143	55260	broad.mit.edu	37	19	48845964	48845964	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:48845964C>T	uc002pix.1	-	6	807	c.798G>A	c.(796-798)CTG>CTA	p.L266L	TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Silent_p.L231L|TMEM143_uc010xzn.1_Silent_p.L201L|TMEM143_uc010elw.1_Silent_p.L166L|TMEM143_uc010xzo.1_Silent_p.L56L	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	transmembrane protein 143	266						integral to membrane|mitochondrion					0		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TCAGCTCCGGCAGCAGCTGCT	0.637000												
SPHK2	56848	broad.mit.edu	37	19	49132082	49132082	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:49132082C>T	uc002pjr.2	+	7	1383	c.1017C>T	c.(1015-1017)TTC>TTT	p.F339F	SPHK2_uc010xzt.1_Silent_p.F280F|SPHK2_uc002pjs.2_Silent_p.F339F|SPHK2_uc002pjt.2_Silent_p.F133F|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.F303F|SPHK2_uc002pjw.2_Silent_p.F401F	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	339					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			lung(1)	1		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCTGGGGCTTCGTGTCAGATG	0.657000												
FUT1	2523	broad.mit.edu	37	19	49253910	49253910	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:49253910C>T	uc002pkk.2	-	4	1604	c.629G>A	c.(628-630)CGC>CAC	p.R210H		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	210	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)		GGTGCGCGGGCGGTCCCCTGT	0.677000												
PPFIA3	8541	broad.mit.edu	37	19	49651461	49651461	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:49651461A>G	uc002pmr.2	+	24	3289	c.2957A>G	c.(2956-2958)CAC>CGC	p.H986R	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.H845R|PPFIA3_uc002pmt.2_Missense_Mutation_p.H125R|PPFIA3_uc002pmu.1_Missense_Mutation_p.H35R	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	986	SAM 2.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ATGTTAGATCACCTTAACAAG	0.607000												
MED25	81857	broad.mit.edu	37	19	50332236	50332236	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:50332236G>T	uc002ppw.1	+	5	467	c.414G>T	c.(412-414)ACG>ACT	p.T138T	MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_5'Flank	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	mediator complex subunit 25	138	Interaction with the Mediator complex.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				ovary(1)	1		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;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GTGGCCAGACGCACCGGGTCT	0.562000												
NUP62	23636	broad.mit.edu	37	19	50411536	50411536	+	Missense_Mutation	SNP	C	C	T	rs142980354		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:50411536C>T	uc002pqx.2	-	2	1633	c.1529G>A	c.(1528-1530)CGC>CAC	p.R510H	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.R510H|NUP62_uc002pqz.2_Missense_Mutation_p.R510H|NUP62_uc002pra.2_Missense_Mutation_p.R510H|NUP62_uc002prb.2_Missense_Mutation_p.R510H|NUP62_uc002prc.2_Missense_Mutation_p.R434H	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	510					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTGCTCCTTGCGCCGGCCCTC	0.632000												
POLD1	5424	broad.mit.edu	37	19	50918097	50918097	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:50918097G>A	uc002psb.3	+	20	2470	c.2414G>A	c.(2413-2415)AGC>AAC	p.S805N	POLD1_uc002psc.3_Missense_Mutation_p.S805N|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.S831N	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	805					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGCTTATCAGCAAGAAGCGC	0.657000								DNA_polymerases_(catalytic_subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SIGLEC5	8778	broad.mit.edu	37	19	52115647	52115647	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:52115647C>T	uc002pxe.2	-	9	1632	c.1493G>A	c.(1492-1494)AGC>AAC	p.S498N		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	498	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		ATCTCCGGGGCTGTCTGGCCA	0.478000												
FPR1	2357	broad.mit.edu	37	19	52250065	52250065	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:52250065G>A	uc002pxq.2	-	2	278	c.183C>T	c.(181-183)ACC>ACT	p.T61T		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	61	Cytoplasmic (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGTAACTGATGGTGGTGACTG	0.542000												
ZNF616	90317	broad.mit.edu	37	19	52619248	52619248	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:52619248A>G	uc002pym.2	-	4	1452	c.1169T>C	c.(1168-1170)TTC>TCC	p.F390S	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	390	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ACGTTTACTGAAGACCTTGCC	0.418000												
ZNF578	147660	broad.mit.edu	37	19	53015138	53015138	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:53015138C>T	uc002pzp.3	+	6	1748	c.1504C>T	c.(1504-1506)CGT>TGT	p.R502C		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	277	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCCATGCCATCGTAGACTTCA	0.403000												
ZNF415	55786	broad.mit.edu	37	19	53611976	53611976	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:53611976T>C	uc002qax.2	-	7	1815	c.1466A>G	c.(1465-1467)AAG>AGG	p.K489R	ZNF415_uc002qat.2_Missense_Mutation_p.K453R|ZNF415_uc002qaw.2_Missense_Mutation_p.K441R|ZNF415_uc010yds.1_Missense_Mutation_p.K441R|ZNF415_uc010ydt.1_Missense_Mutation_p.K441R|ZNF415_uc002qau.2_Missense_Mutation_p.K428R|ZNF415_uc002qav.2_Missense_Mutation_p.K453R|ZNF415_uc002qba.2_Missense_Mutation_p.K211R|ZNF415_uc002qay.2_Missense_Mutation_p.K428R|ZNF415_uc002qaz.2_Missense_Mutation_p.K489R	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	489	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		CTCATTACACTTGTAAGGTTT	0.418000												
VN1R4	317703	broad.mit.edu	37	19	53770718	53770718	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:53770718T>C	uc010ydu.1	-	1	201	c.201A>G	c.(199-201)GCA>GCG	p.A67A		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	67	Helical; Name=2; (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)		CCCCAAAAGCTGCCATTGTCT	0.488000										HNSCC(26;0.072)		
LENG8	114823	broad.mit.edu	37	19	54967257	54967257	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:54967257G>A	uc002qfv.1	+	8	1170	c.1026G>A	c.(1024-1026)CCG>CCA	p.P342P	LENG8_uc002qfw.2_Silent_p.P379P			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	342							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGGTGCCCCGTCCCAGCGAG	0.672000												
LILRB1	10859	broad.mit.edu	37	19	55144563	55144563	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:55144563T>C	uc002qgj.2	+	8	1395	c.1055T>C	c.(1054-1056)ATG>ACG	p.M352T	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.M352T|LILRB1_uc002qgk.2_Missense_Mutation_p.M352T|LILRB1_uc002qgm.2_Missense_Mutation_p.M352T|LILRB1_uc010erq.2_Missense_Mutation_p.M352T|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	352	Ig-like C2-type 4.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		CAGGGATGGATGCAAACTTTC	0.557000										HNSCC(37;0.09)		
SYT5	6861	broad.mit.edu	37	19	55686555	55686555	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:55686555C>T	uc002qjm.1	-	5	1753	c.693G>A	c.(691-693)GCG>GCA	p.A231A	SYT5_uc002qjp.2_Silent_p.A228A|SYT5_uc002qjn.1_Silent_p.A231A|SYT5_uc002qjo.1_Silent_p.A231A	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	231	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCCGCGGAGCCGCCTGCAGCT	0.692000												
ZNF543	125919	broad.mit.edu	37	19	57839961	57839961	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:57839961C>T	uc002qoi.1	+	4	1476	c.1131C>T	c.(1129-1131)TGC>TGT	p.C377C		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	377	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAGCTTTTTGCGAGAGTGCAG	0.512000												
ZNF671	79891	broad.mit.edu	37	19	58232616	58232616	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:58232616T>C	uc002qpz.3	-	4	937	c.838A>G	c.(838-840)ATG>GTG	p.M280V	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.M203V|ZNF671_uc010yhf.1_Missense_Mutation_p.M182V	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	280					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)		CTCTGTCCCATGAGAAAGCCA	0.517000												
ZNF552	79818	broad.mit.edu	37	19	58319437	58319437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:58319437G>A	uc002qqg.2	-	3	1365	c.1195C>T	c.(1195-1197)CAG>TAG	p.Q399*	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Nonsense_Mutation_p.Q395*	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	zinc finger protein 552	399	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TGAACTCTCTGATGATGACGA	0.408000												
ZSCAN1	284312	broad.mit.edu	37	19	58565272	58565272	+	Silent	SNP	C	C	T	rs144381428		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:58565272C>T	uc002qrc.1	+	6	1327	c.1080C>T	c.(1078-1080)TCC>TCT	p.S360S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	360					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCGGGAGTCCGTCCCACCCA	0.662000												
MZF1	7593	broad.mit.edu	37	19	59074394	59074394	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:59074394C>A	uc002qto.2	-	6	1811	c.1250G>T	c.(1249-1251)TGT>TTT	p.C417F	LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.C417F	NM_198055	NP_932172	P28698	MZF1_HUMAN	zinc finger protein 42 isoform 2	417	C2H2-type 3.				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCCCTGGCCACAGTCGCCGCA	0.687000												
TPO	7173	broad.mit.edu	37	2	1497702	1497702	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:1497702G>A	uc002qww.2	+	11	1988	c.1897G>A	c.(1897-1899)GAT>AAT	p.D633N	TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.D576N|TPO_uc002qwr.2_Missense_Mutation_p.D633N|TPO_uc002qwx.2_Missense_Mutation_p.D576N|TPO_uc010yio.1_Missense_Mutation_p.D460N|TPO_uc010yip.1_Missense_Mutation_p.D633N|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	633	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGACAACATCGATGTCTGGCT	0.607000												
ASAP2	8853	broad.mit.edu	37	2	9531313	9531313	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:9531313G>A	uc002qzh.2	+	23	2846	c.2506G>A	c.(2506-2508)GTG>ATG	p.V836M	ASAP2_uc002qzi.2_Intron	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	836	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						CCCTCTTCGCGTGACATCTAC	0.572000												
ITGB1BP1	9270	broad.mit.edu	37	2	9558782	9558782	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:9558782T>A	uc002qzj.2	-	2	222	c.45A>T	c.(43-45)CAA>CAT	p.Q15H	ITGB1BP1_uc002qzk.2_Missense_Mutation_p.Q15H|ITGB1BP1_uc002qzl.2_RNA|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Intron|ITGB1BP1_uc002qzn.1_Missense_Mutation_p.Q15H	NM_004763	NP_004754	O14713	ITBP1_HUMAN	integrin cytoplasmic domain-associated protein 1	15	Ser/Thr-rich.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding|protein binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TTTCGCTACTTTGGGAACTGC	0.393000												
NCOA1	8648	broad.mit.edu	37	2	24930579	24930579	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:24930579A>G	uc002rfk.2	+	11	2498	c.2240A>G	c.(2239-2241)CAG>CGG	p.Q747R	NCOA1_uc010eye.2_Missense_Mutation_p.Q747R|NCOA1_uc002rfi.2_Missense_Mutation_p.Q596R|NCOA1_uc002rfj.2_Missense_Mutation_p.Q747R|NCOA1_uc002rfl.2_Missense_Mutation_p.Q747R	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	747									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGACCATCAGCTCCTACGC	0.383000			T	PAX3	alveolar rhadomyosarcoma							
OTOF	9381	broad.mit.edu	37	2	26750774	26750774	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:26750774C>T	uc002rhk.2	-	3	280	c.153G>A	c.(151-153)CCG>CCA	p.P51P		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	51	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGGCCACCGGCCACCGAA	0.557000												
FNDC4	64838	broad.mit.edu	37	2	27716887	27716887	+	Missense_Mutation	SNP	C	C	T	rs1046558		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:27716887C>T	uc002rkx.2	-	4	770	c.364G>A	c.(364-366)GGC>AGC	p.G122S	GCKR_uc002rky.2_5'Flank|GCKR_uc010ezd.2_5'Flank|GCKR_uc010ylu.1_5'Flank	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	122	Extracellular (Potential).|Fibronectin type-III.					integral to membrane					0	Acute lymphoblastic leukemia(172;0.155)					CCCCGAAGGCCGATGCTCCTG	0.627000												
GCKR	2646	broad.mit.edu	37	2	27730607	27730607	+	Silent	SNP	G	G	A	rs149406755	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:27730607G>A	uc002rky.2	+	14	1269	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T	GCKR_uc010ezd.2_Silent_p.T399T|GCKR_uc010ylu.1_Silent_p.T211T	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein	401	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)					CCTCTCTCACGGAAATCGATA	0.547000												
EHD3	30845	broad.mit.edu	37	2	31467249	31467249	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:31467249G>A	uc002rnu.2	+	2	945	c.337G>A	c.(337-339)GCC>ACC	p.A113T	EHD3_uc010ymt.1_Missense_Mutation_p.A113T	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	113					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					CCCTGGGAACGCCCTGGTGGT	0.562000												
NLRC4	58484	broad.mit.edu	37	2	32466128	32466128	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:32466128A>G	uc002roi.2	-	5	2570	c.2324T>C	c.(2323-2325)ATG>ACG	p.M775T	NLRC4_uc002roj.1_Missense_Mutation_p.M775T|NLRC4_uc010ezt.1_Missense_Mutation_p.M110T	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	775	LRR 6.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTTCATTCATCTTTATGTT	0.348000												
SIX3	6496	broad.mit.edu	37	2	45169609	45169609	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:45169609C>T	uc002run.1	+	1	573	c.366C>T	c.(364-366)TGC>TGT	p.C122C		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	122					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCGGGGCGTGCGAGGCCATCA	0.682000												
FBXO11	80204	broad.mit.edu	37	2	48035330	48035330	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:48035330T>C	uc010fbl.2	-	23	2573	c.2459A>G	c.(2458-2460)GAG>GGG	p.E820G	FBXO11_uc002rwe.2_Missense_Mutation_p.E820G|FBXO11_uc010fbk.2_Missense_Mutation_p.E328G	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	904	UBR-type.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATGTGTAGGCTCACCAGCTAA	0.398000												
NRXN1	9378	broad.mit.edu	37	2	50318473	50318473	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:50318473G>A	uc010fbp.2	-	3	1408	c.601C>T	c.(601-603)CGC>TGC	p.R201C	NRXN1_uc002rxb.3_Missense_Mutation_p.R908C|NRXN1_uc010fbq.2_Missense_Mutation_p.R1276C|NRXN1_uc002rxe.3_Missense_Mutation_p.R1236C	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	201	Extracellular (Potential).|Laminin G-like.				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)			GCAGGGTAGCGCTCGATCACT	0.448000												
CCT4	10575	broad.mit.edu	37	2	62099382	62099382	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:62099382T>C	uc002sbo.2	-	12	1475	c.1326A>G	c.(1324-1326)ACA>ACG	p.T442T	CCT4_uc010ypp.1_Silent_p.T386T|CCT4_uc010ypq.1_Silent_p.T292T|CCT4_uc010ypr.1_Silent_p.T386T|CCT4_uc010yps.1_Silent_p.T412T	NM_006430	NP_006421	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	442					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			ovary(2)	2	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TACCACTCAGTGTTCGTGAAT	0.423000												
EHBP1	23301	broad.mit.edu	37	2	63169987	63169987	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:63169987T>C	uc002sby.2	+	12	1907	c.1425T>C	c.(1423-1425)GGT>GGC	p.G475G	EHBP1_uc010fcp.2_Silent_p.G440G|EHBP1_uc002sbz.2_Silent_p.G440G|EHBP1_uc002scb.2_Silent_p.G440G	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	475	CH.					cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GGAGAAATGGTTTATCTTTTT	0.323000									Hereditary_Prostate_Cancer			
PNO1	56902	broad.mit.edu	37	2	68385209	68385209	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:68385209A>T	uc002seh.2	+	1	205	c.143A>T	c.(142-144)GAC>GTC	p.D48V	WDR92_uc002sed.1_5'Flank|WDR92_uc002see.1_5'Flank|WDR92_uc002sef.1_5'Flank|WDR92_uc002seg.1_5'Flank	NM_020143	NP_064528	Q9NRX1	PNO1_HUMAN	partner of NOB1	48						nucleolus	RNA binding				0						GGCCGCATGGACACAGAGGAG	0.672000												
SFXN5	94097	broad.mit.edu	37	2	73268057	73268057	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:73268057G>A	uc002siq.2	-	3	306	c.175C>T	c.(175-177)CGT>TGT	p.R59C	SFXN5_uc002sio.2_Translation_Start_Site|SFXN5_uc010yrc.1_Translation_Start_Site|SFXN5_uc002sip.2_RNA|SFXN5_uc010fet.2_Missense_Mutation_p.R59C	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	sideroflexin 5	59					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			ovary(1)	1						TCTCTGAGACGTCTCTGCAGA	0.522000												
SLC4A5	57835	broad.mit.edu	37	2	74475528	74475528	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:74475528C>T	uc002sko.1	-	13	1741	c.1739G>A	c.(1738-1740)AGC>AAC	p.S580N	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.S580N|SLC4A5_uc010ffc.1_Missense_Mutation_p.S580N|SLC4A5_uc002skp.1_Missense_Mutation_p.S516N|SLC4A5_uc002sks.1_Missense_Mutation_p.S580N	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	580	Helical; (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						GGGCCCCGTGCTGCTGAGAAT	0.587000												
MOGS	7841	broad.mit.edu	37	2	74689928	74689928	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:74689928T>C	uc010ffj.2	-	4	1151	c.988A>G	c.(988-990)ATT>GTT	p.I330V	MOGS_uc010ffh.2_Missense_Mutation_p.I55V|MOGS_uc010yrt.1_Missense_Mutation_p.I211V|MOGS_uc010ffi.2_Missense_Mutation_p.I224V	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	330	Lumenal (Potential).			I -> F (in Ref. 1; CAA60683).	oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						TCTATGGAAATGGGAATTTTC	0.562000												
LOXL3	84695	broad.mit.edu	37	2	74779707	74779707	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:74779707G>A	uc002smp.1	-	2	127	c.55C>T	c.(55-57)CTG>TTG	p.L19L	LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Silent_p.L19L|LOXL3_uc002smq.1_Silent_p.L19L|LOXL3_uc010ffn.1_Silent_p.L19L|DOK1_uc002smr.2_Intron|DOK1_uc002sms.2_5'Flank|DOK1_uc010ffo.2_5'Flank|DOK1_uc002smt.2_5'Flank|DOK1_uc002smu.2_5'Flank|DOK1_uc010yrz.1_5'Flank|DOK1_uc002smv.2_5'Flank|DOK1_uc002smw.1_5'Flank	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	19						extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						GAACTGCACAGCAGGCACAGC	0.607000												
ZNF2	7549	broad.mit.edu	37	2	95847751	95847751	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:95847751C>T	uc002suf.2	+	6	1637	c.1175C>T	c.(1174-1176)ACG>ATG	p.T392M	ZNF2_uc002sug.2_Missense_Mutation_p.T350M|ZNF2_uc010yue.1_Missense_Mutation_p.T355M|ZNF2_uc010fhs.2_Missense_Mutation_p.T313M	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CGTGTCCACACGGGAGAGAAG	0.507000												
CNNM3	26505	broad.mit.edu	37	2	97498336	97498336	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:97498336C>T	uc002swy.2	+	8	2131	c.2107C>T	c.(2107-2109)CGG>TGG	p.R703W	CNNM3_uc002swz.2_Missense_Mutation_p.R655W	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	703					ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1						CAGCCCTGGGCGGAACCCAGG	0.592000												
VWA3B	200403	broad.mit.edu	37	2	98844745	98844745	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:98844745G>T	uc002syo.2	+	15	2364	c.2100G>T	c.(2098-2100)GAG>GAT	p.E700D	VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.E219D|VWA3B_uc002sym.2_Missense_Mutation_p.E700D|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.E357D|VWA3B_uc002syp.1_Missense_Mutation_p.E92D|VWA3B_uc002syq.1_Intron|VWA3B_uc002syr.1_Missense_Mutation_p.E17D	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	700										ovary(3)|large_intestine(2)|skin(1)	6						TTTATTCTGAGTCCTTGATCA	0.478000												
IL18R1	8809	broad.mit.edu	37	2	102998141	102998141	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:102998141A>G	uc002tbw.3	+	6	837	c.687A>G	c.(685-687)TTA>TTG	p.L229L	IL18R1_uc010ywc.1_Silent_p.L229L|IL18R1_uc010ywd.1_Silent_p.L74L|IL18R1_uc010fiy.2_Silent_p.L229L	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	229	Ig-like C2-type 3.|Extracellular (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3						CAGTGGAATTAGGTATATTTC	0.338000												
RANBP2	5903	broad.mit.edu	37	2	109367742	109367742	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:109367742T>C	uc002tem.3	+	10	1422	c.1296T>C	c.(1294-1296)GGT>GGC	p.G432G		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	432					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						CACATAATGGTAGTCTTCAGC	0.383000												
IL1B	3553	broad.mit.edu	37	2	113591101	113591101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:113591101G>A	uc002tii.1	-	4	238	c.151C>T	c.(151-153)CGA>TGA	p.R51*	IL1B_uc002tih.1_Nonsense_Mutation_p.R20*	NM_000576	NP_000567	P01584	IL1B_HUMAN	interleukin 1, beta proprotein	51					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			lung(3)|breast(1)	4					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TCGGAGATTCGTAGCTGGATG	0.622000												
MYO7B	4648	broad.mit.edu	37	2	128322852	128322852	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:128322852G>A	uc002top.2	+	4	230	c.177G>A	c.(175-177)ATG>ATA	p.M59I		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	59						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCAGTCCCATGCACCCCAACT	0.617000												
TUBA3D	113457	broad.mit.edu	37	2	132240260	132240260	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:132240260A>G	uc002tsu.3	+	5	1299	c.1192A>G	c.(1192-1194)ATG>GTG	p.M398V		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	398					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		GTTCGATCTCATGTATGCCAA	0.632000												
CCDC74A	90557	broad.mit.edu	37	2	132285712	132285712	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:132285712C>A	uc002tta.2	+	1	221	c.169C>A	c.(169-171)CTG>ATG	p.L57M	CCDC74A_uc010fnb.1_Missense_Mutation_p.L57M|CCDC74A_uc002ttb.2_Missense_Mutation_p.L57M	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	57	Potential.									skin(1)	1						GGAGAAAAGCCTGCAGTTCCT	0.657000												
LYPD1	116372	broad.mit.edu	37	2	133403742	133403742	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:133403742C>T	uc002ttn.2	-	3	1278	c.302G>A	c.(301-303)TGC>TAC	p.C101Y	GPR39_uc002ttl.2_3'UTR|LYPD1_uc002ttm.3_Missense_Mutation_p.C117Y|LYPD1_uc002tto.2_Missense_Mutation_p.C49Y	NM_144586	NP_653187	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1 isoform a	101	UPAR/Ly6.					anchored to membrane|plasma membrane					0						AGGGGTGTTGCAGCAGCTGAT	0.582000												
KIF5C	3800	broad.mit.edu	37	2	149864536	149864536	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:149864536C>A	uc010zbu.1	+	23	2873	c.2505C>A	c.(2503-2505)TCC>TCA	p.S835S	KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Silent_p.S117S	NM_004522	NP_004513	O60282	KIF5C_HUMAN	kinesin family member 5C	835					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGAAAATTTCCTTCTTGGAGA	0.547000												
NMI	9111	broad.mit.edu	37	2	152132079	152132079	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:152132079G>C	uc002txi.2	-	6	883	c.553C>G	c.(553-555)CGA>GGA	p.R185G	NMI_uc010zbx.1_3'UTR	NM_004688	NP_004679	Q13287	NMI_HUMAN	N-myc and STAT interactor	185					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity				0				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CCTCCATTTCGGGACTTTGAA	0.453000												
NEB	4703	broad.mit.edu	37	2	152470851	152470851	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:152470851G>A	uc010fnx.2	-	73	11002	c.10811C>T	c.(10810-10812)ACC>ATC	p.T3604I		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3604	Nebulin 99.				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)		AGGCAGGCAGGTCCATTCATG	0.498000												
NR4A2	4929	broad.mit.edu	37	2	157185013	157185013	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:157185013A>G	uc002tyz.3	-	4	1319	c.897T>C	c.(895-897)TGT>TGC	p.C299C	NR4A2_uc002tyx.3_Silent_p.C236C|NR4A2_uc010zcf.1_Silent_p.C299C|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	299	NR C4-type.|Nuclear receptor.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TATTTGCTAAACACACGTATT	0.428000												
LY75	4065	broad.mit.edu	37	2	160697448	160697448	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:160697448G>A	uc002ubc.3	-	25	3368	c.3299C>T	c.(3298-3300)ACG>ATG	p.T1100M	LY75_uc002ubb.3_Missense_Mutation_p.T1100M|LY75_uc010fos.2_Missense_Mutation_p.T1100M	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1100	Extracellular (Potential).				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		ATTCTGCAACGTCTGTCTGCT	0.378000												
COBLL1	22837	broad.mit.edu	37	2	165551508	165551508	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:165551508C>T	uc010zcw.1	-	15	2833	c.2709G>A	c.(2707-2709)CCG>CCA	p.P903P	COBLL1_uc002ucp.2_Silent_p.P836P|COBLL1_uc002ucq.2_Silent_p.P798P|COBLL1_uc010zcx.1_Silent_p.P844P|COBLL1_uc002ucn.2_Silent_p.P264P|COBLL1_uc002uco.2_Silent_p.P567P	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	874										ovary(2)|pancreas(1)	3						GGTTAGGCTTCGGTTTAAGGT	0.463000												
SCN3A	6328	broad.mit.edu	37	2	165987821	165987821	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:165987821C>T	uc002ucx.2	-	16	2990	c.2498G>A	c.(2497-2499)AGC>AAC	p.S833N	SCN3A_uc002ucy.2_Missense_Mutation_p.S784N|SCN3A_uc002ucz.2_Missense_Mutation_p.S784N|SCN3A_uc002uda.1_Missense_Mutation_p.S653N|SCN3A_uc002udb.1_Missense_Mutation_p.S653N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	833	Helical; Name=S3 of repeat II; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TAAACTGAGGCTGACAATAAT	0.398000												
LRP2	4036	broad.mit.edu	37	2	170103223	170103223	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:170103223C>T	uc002ues.2	-	21	3395	c.3182G>A	c.(3181-3183)GGC>GAC	p.G1061D	LRP2_uc010zdf.1_Missense_Mutation_p.G924D	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1061	LDL-receptor class A 8.|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)	ACTAAGTGTGCCACATAGTTG	0.388000												
OLA1	29789	broad.mit.edu	37	2	174987938	174987938	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:174987938T>C	uc002uih.2	-	7	884	c.698A>G	c.(697-699)GAA>GGA	p.E233G	OLA1_uc002uii.2_Missense_Mutation_p.E75G|OLA1_uc010fqq.2_Missense_Mutation_p.E233G|OLA1_uc002uij.2_Missense_Mutation_p.E75G|OLA1_uc002uik.2_Missense_Mutation_p.E203G|OLA1_uc010fqr.2_Missense_Mutation_p.E233G	NM_013341	NP_037473	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1 isoform 1	233				LSE->KSD: Retention of ATP-binding specificity.	ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			ovary(1)|breast(1)	2						GTAGTCTTTTTCAGAAAGATT	0.343000												
EVX2	344191	broad.mit.edu	37	2	176948225	176948225	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:176948225A>C	uc010zeu.1	-	1	466	c.280T>G	c.(280-282)TCC>GCC	p.S94A		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	94						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCGGCGGCGGAGGAGATTTCG	0.627000												
PDE11A	50940	broad.mit.edu	37	2	178592398	178592398	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:178592398G>A	uc002ulq.2	-	12	2349	c.2031C>T	c.(2029-2031)TTC>TTT	p.F677F	PDE11A_uc002ulp.2_Silent_p.F233F|PDE11A_uc002ulr.2_Silent_p.F427F|PDE11A_uc002uls.1_Silent_p.F319F|PDE11A_uc002ult.1_Silent_p.F427F|PDE11A_uc002ulu.1_Silent_p.F319F	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	677	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTAACATCGCGAACATCAGCT	0.438000									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial			
TTN	7273	broad.mit.edu	37	2	179583963	179583963	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:179583963T>C	uc010zfg.1	-	80	20646	c.20422A>G	c.(20422-20424)ACA>GCA	p.T6808A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T3469A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7735							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)			TATATGCCTGTGTCGGAGGGC	0.498000												
TTN	7273	broad.mit.edu	37	2	179594857	179594857	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:179594857A>G	uc010zfg.1	-	59	14762	c.14538T>C	c.(14536-14538)GTT>GTC	p.V4846V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.V1507V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5773							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)			TTGCTGTGCCAACATCATTGC	0.493000												
TTN	7273	broad.mit.edu	37	2	179612275	179612275	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:179612275T>C	uc002unb.2	-	46	15076	c.14852A>G	c.(14851-14853)TAC>TGC	p.Y4951C	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTTGTAGTATTCATACAC	0.423000												
TTN	7273	broad.mit.edu	37	2	179638249	179638249	+	Missense_Mutation	SNP	C	C	T	rs116049561	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:179638249C>T	uc010zfg.1	-	32	7758	c.7534G>A	c.(7534-7536)GAA>AAA	p.E2512K	TTN_uc010zfh.1_Missense_Mutation_p.E2466K|TTN_uc010zfi.1_Missense_Mutation_p.E2466K|TTN_uc010zfj.1_Missense_Mutation_p.E2466K|TTN_uc002unb.2_Missense_Mutation_p.E2512K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2512							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)			TAAGGTCCTTCGTCTGAAGCA	0.383000												
SESTD1	91404	broad.mit.edu	37	2	179989230	179989230	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:179989230G>A	uc002uni.3	-	11	1178	c.1028C>T	c.(1027-1029)GCT>GTT	p.A343V	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	343	Spectrin 1.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTCATCGCCAGCATTCAAGAG	0.403000												
NEUROD1	4760	broad.mit.edu	37	2	182543334	182543334	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:182543334C>T	uc002uof.2	-	2	490	c.254G>A	c.(253-255)GGC>GAC	p.G85D	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	85					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTTTTTGGGGCCGCGTCTCTT	0.398000												
MFSD6	54842	broad.mit.edu	37	2	191302045	191302045	+	Silent	SNP	G	G	A	rs138768363		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:191302045G>A	uc002urz.2	+	3	1614	c.1290G>A	c.(1288-1290)TCG>TCA	p.S430S		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	430					transmembrane transport	integral to membrane				ovary(2)	2						CAAGCCACTCGCAGGCCTTCA	0.502000												
MYO1B	4430	broad.mit.edu	37	2	192265123	192265123	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:192265123C>T	uc010fsg.2	+	22	2566	c.2311C>T	c.(2311-2313)CGG>TGG	p.R771W	MYO1B_uc002usq.2_Missense_Mutation_p.R771W|MYO1B_uc002usr.2_Missense_Mutation_p.R771W|MYO1B_uc002usu.2_Missense_Mutation_p.R45W|MYO1B_uc002usv.2_5'Flank	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	771	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AAAAATTCTGCGGGAACTGAA	0.458000												
DNAH7	56171	broad.mit.edu	37	2	196723270	196723270	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:196723270G>A	uc002utj.3	-	43	8096	c.7995C>T	c.(7993-7995)TGC>TGT	p.C2665C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2665	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						GGTCAGCATCGCACTCATCTT	0.453000												
DNAH7	56171	broad.mit.edu	37	2	196729215	196729215	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:196729215C>T	uc002utj.3	-	41	7265	c.7164G>A	c.(7162-7164)GCG>GCA	p.A2388A		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2388	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TCTCACCTTCCGCACATTTCC	0.393000												
HECW2	57520	broad.mit.edu	37	2	197183522	197183522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:197183522G>A	uc002utm.1	-	9	2275	c.2092C>T	c.(2092-2094)CAG>TAG	p.Q698*	HECW2_uc002utl.1_Nonsense_Mutation_p.Q342*	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	698					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						ACGGATTCCTGCGACCCTTCG	0.612000												
HECW2	57520	broad.mit.edu	37	2	197183576	197183576	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:197183576C>T	uc002utm.1	-	9	2221	c.2038G>A	c.(2038-2040)GAA>AAA	p.E680K	HECW2_uc002utl.1_Missense_Mutation_p.E324K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	680					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						GCTCCGTCTTCCTCCTCCTGA	0.597000												
COQ10B	80219	broad.mit.edu	37	2	198334842	198334842	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:198334842C>T	uc002uuh.1	+	4	550	c.496C>T	c.(496-498)CGT>TGT	p.R166C	COQ10B_uc010fsl.1_Missense_Mutation_p.R138C	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B precursor	166						mitochondrial inner membrane					0			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GACTATTTGGCGTTTTAGCCC	0.378000												
BOLL	66037	broad.mit.edu	37	2	198621225	198621225	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:198621225T>C	uc002uus.2	-	9	966	c.656A>G	c.(655-657)CAA>CGA	p.Q219R	uc002uup.2_Intron|BOLL_uc002uur.2_Missense_Mutation_p.Q225R|BOLL_uc002uut.2_Missense_Mutation_p.Q231R|BOLL_uc010zha.1_Missense_Mutation_p.Q110R|BOLL_uc002uuu.1_Missense_Mutation_p.Q247R	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	boule isoform 2	219					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			ovary(2)	2						TTCCACTGGTTGATAAATAAC	0.368000												
BOLL	66037	broad.mit.edu	37	2	198622118	198622118	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:198622118T>C	uc002uus.2	-	8	869	c.559A>G	c.(559-561)ACA>GCA	p.T187A	uc002uup.2_Intron|BOLL_uc002uur.2_Missense_Mutation_p.T193A|BOLL_uc002uut.2_Missense_Mutation_p.T199A|BOLL_uc010zha.1_Missense_Mutation_p.T78A|BOLL_uc002uuu.1_Missense_Mutation_p.T215A	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	boule isoform 2	187	DAZ-like.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			ovary(2)	2						AAATACTGTGTGGTGGCCTAA	0.249000												
C2orf69	205327	broad.mit.edu	37	2	200789807	200789807	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:200789807G>A	uc010zhb.1	+	2	539	c.356G>A	c.(355-357)CGT>CAT	p.R119H		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	hypothetical protein LOC205327 precursor	119						extracellular region				central_nervous_system(1)	1						ATTATGACTCGTCATCCTGAG	0.308000												
SGOL2	151246	broad.mit.edu	37	2	201434523	201434523	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:201434523C>T	uc002uvw.2	+	6	724	c.611C>T	c.(610-612)TCG>TTG	p.S204L	SGOL2_uc002uvv.3_Missense_Mutation_p.S204L|SGOL2_uc010zhd.1_Missense_Mutation_p.S204L|SGOL2_uc010zhe.1_Missense_Mutation_p.S204L	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	204					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						CAGGATAATTCGGAAGTGTTA	0.318000												
CLK1	1195	broad.mit.edu	37	2	201722492	201722492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:201722492G>A	uc002uwe.2	-	7	962	c.781C>T	c.(781-783)CGA>TGA	p.R261*	CLK1_uc002uwd.2_Nonsense_Mutation_p.R84*|CLK1_uc010zhi.1_Nonsense_Mutation_p.R303*|CLK1_uc002uwf.2_Nonsense_Mutation_p.R35*|CLK1_uc002uwg.2_Nonsense_Mutation_p.R110*|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 1	261	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2						TGATCCAGTCGAAATGGTAGA	0.303000												
PARD3B	117583	broad.mit.edu	37	2	205986445	205986445	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:205986445G>A	uc002var.1	+	8	1144	c.937G>A	c.(937-939)GTT>ATT	p.V313I	PARD3B_uc010fub.1_Missense_Mutation_p.V313I|PARD3B_uc002vao.1_Missense_Mutation_p.V313I|PARD3B_uc002vap.1_Missense_Mutation_p.V313I|PARD3B_uc002vaq.1_Missense_Mutation_p.V313I	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	313					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TAATGATGGCGTTTTGAAAAC	0.448000												
NDUFS1	4719	broad.mit.edu	37	2	207006783	207006783	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:207006783G>A	uc002vbe.2	-	12	1271	c.1144C>T	c.(1144-1146)CGT>TGT	p.R382C	NDUFS1_uc010ziq.1_Missense_Mutation_p.R396C|NDUFS1_uc010zir.1_Missense_Mutation_p.R346C|NDUFS1_uc010zis.1_Missense_Mutation_p.R325C|NDUFS1_uc010zit.1_Missense_Mutation_p.R271C|NDUFS1_uc010ziu.1_Missense_Mutation_p.R266C	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	382					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	TAATTGGAACGCAAATCTGTG	0.343000												
CREB1	1385	broad.mit.edu	37	2	208420450	208420450	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:208420450C>T	uc002vcc.2	+	2	342	c.91C>T	c.(91-93)CCA>TCA	p.P31S	CREB1_uc010ziz.1_Missense_Mutation_p.P29S|CREB1_uc002vcd.2_Missense_Mutation_p.P31S	NM_134442	NP_604391	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	31					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|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		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(42)	soft_tissue(42)|breast(1)|central_nervous_system(1)	44				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	TCAAGCCCAGCCACAGATTGC	0.428000			T	EWSR1	clear cell sarcoma|angiomatoid fibrous histiocytoma							
FN1	2335	broad.mit.edu	37	2	216236885	216236885	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:216236885G>T	uc002vfa.2	-	40	6727	c.6461C>A	c.(6460-6462)CCC>CAC	p.P2154H	FN1_uc002vfb.2_Missense_Mutation_p.P1973H|FN1_uc002vfc.2_Missense_Mutation_p.P1948H|FN1_uc002vfd.2_Missense_Mutation_p.P2129H|FN1_uc002vfe.2_Missense_Mutation_p.P2063H|FN1_uc002vff.2_Missense_Mutation_p.P2038H|FN1_uc002vfg.2_Missense_Mutation_p.P1973H|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Missense_Mutation_p.P2154H|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_Missense_Mutation_p.P348H|FN1_uc010zjp.1_Missense_Mutation_p.P691H|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Intron|FN1_uc010fvd.1_Missense_Mutation_p.P245H	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2063	Connecting strand 3 (CS-3) (V region).				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCGTTGTGGGCGGTGTGGT	0.512000												
TNS1	7145	broad.mit.edu	37	2	218762658	218762658	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:218762658A>G	uc002vgt.2	-	6	429	c.31T>C	c.(31-33)TGT>CGT	p.C11R	TNS1_uc002vgr.2_Missense_Mutation_p.C11R|TNS1_uc002vgs.2_Missense_Mutation_p.C11R|TNS1_uc010zjv.1_Missense_Mutation_p.C11R|TNS1_uc010fvj.1_Missense_Mutation_p.C79R|TNS1_uc010fvk.1_Missense_Mutation_p.C136R|TNS1_uc002vgu.3_Missense_Mutation_p.C42R|TNS1_uc002vgv.1_RNA	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	11	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCAGCTCACAGCTGTCCTCC	0.587000												
ABCB6	10058	broad.mit.edu	37	2	220078361	220078361	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:220078361A>G	uc002vkc.1	-	10	1883	c.1606T>C	c.(1606-1608)TAC>CAC	p.Y536H	ABCB6_uc010fwe.1_Missense_Mutation_p.Y490H	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	536	Helical; (Potential).|ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGATAATGTAGGTGCCAAAG	0.547000												
SPEG	10290	broad.mit.edu	37	2	220348655	220348655	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:220348655G>T	uc010fwg.2	+	30	6470	c.6470G>T	c.(6469-6471)GGG>GTG	p.G2157V		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2157					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		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)		GCCAGGCTTGGGGCCCGTAGG	0.552000												
TMEM198	130612	broad.mit.edu	37	2	220414512	220414512	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:220414512C>T	uc002vme.2	+	6	1604	c.1019C>T	c.(1018-1020)GCG>GTG	p.A340V	TMEM198_uc002vmf.2_Missense_Mutation_p.A340V|hsa-mir-3132|MI0014152_5'Flank	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	340						integral to membrane				ovary(1)	1		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCACAGATGCGGACTATGAG	0.592000												
STK11IP	114790	broad.mit.edu	37	2	220466796	220466796	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:220466796G>T	uc002vml.2	+	5	505	c.462G>T	c.(460-462)CAG>CAT	p.Q154H	STK11IP_uc010zlk.1_Missense_Mutation_p.Q143H|STK11IP_uc010zll.1_Missense_Mutation_p.Q143H|STK11IP_uc002vmm.1_Missense_Mutation_p.Q143H	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	154	LRR 2.				protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGCCTCCAGGCATTAGAGG	0.448000												
SLC4A3	6508	broad.mit.edu	37	2	220496734	220496734	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:220496734A>G	uc002vmp.3	+	7	1125	c.856A>G	c.(856-858)AAA>GAA	p.K286E	SLC4A3_uc002vmn.2_Missense_Mutation_p.K313E|SLC4A3_uc002vmo.3_Missense_Mutation_p.K313E|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	286	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACTTAGTGAAAAAGCCCTC	0.647000												
SLC19A3	80704	broad.mit.edu	37	2	228564113	228564113	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:228564113C>T	uc002vpi.2	-	3	407	c.318G>A	c.(316-318)ATG>ATA	p.M106I	SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.M102I	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	106	Extracellular (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CTACAACCTGCATGGTCTTCA	0.522000												
NEU2	4759	broad.mit.edu	37	2	233899156	233899156	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:233899156G>A	uc010zmn.1	+	2	532	c.532G>A	c.(532-534)GCC>ACC	p.A178T		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	178							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GGTGGTGCCCGCCTACGCCTA	0.662000												
MLPH	79083	broad.mit.edu	37	2	238434402	238434402	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:238434402G>A	uc002vwt.2	+	7	1061	c.834G>A	c.(832-834)CCG>CCA	p.P278P	MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Silent_p.P278P|MLPH_uc002vwu.2_Silent_p.P278P|MLPH_uc002vwv.2_Silent_p.P238P|MLPH_uc002vww.2_Silent_p.P254P|MLPH_uc002vwx.2_Silent_p.P162P|MLPH_uc010fyu.2_Missense_Mutation_p.R77H	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	melanophilin isoform 1	278							metal ion binding			ovary(1)	1		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGCTCTGCCCGCCTGGAGGCT	0.672000												
HDAC4	9759	broad.mit.edu	37	2	240078398	240078398	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:240078398G>A	uc002vyk.3	-	7	1475	c.683C>T	c.(682-684)CCG>CTG	p.P228L	HDAC4_uc010fyz.1_Missense_Mutation_p.P223L|HDAC4_uc010zoa.1_Missense_Mutation_p.P223L|HDAC4_uc010fza.2_Missense_Mutation_p.P228L|HDAC4_uc010fyy.2_Missense_Mutation_p.P180L|HDAC4_uc010znz.1_Missense_Mutation_p.P111L|HDAC4_uc010fzb.1_5'Flank	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	228	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCCCAGGACCGGGTGGTTATA	0.567000												
CAPN10	11132	broad.mit.edu	37	2	241555834	241555834	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:241555834C>T	uc002vzq.1	+	3	480	c.303C>T	c.(301-303)GAC>GAT	p.D101D	GPR35_uc010fzh.1_5'UTR|GPR35_uc010fzi.1_5'UTR	NM_023089	NP_075577	Q9HC96	CAN10_HUMAN	calpain 10 isoform g	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			ovary(3)|large_intestine(2)|lung(1)	6		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		ttcctgcagactggacttgca	0.219000												
THAP4	51078	broad.mit.edu	37	2	242572334	242572334	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:242572334C>T	uc002wbt.2	-	2	1461	c.1238G>A	c.(1237-1239)CGC>CAC	p.R413H		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	413							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GTACTGACCGCGGCTGGGCGA	0.622000												
NSFL1C	55968	broad.mit.edu	37	20	1444988	1444988	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:1444988T>C	uc002wfc.2	-	2	1137	c.189A>G	c.(187-189)AGA>AGG	p.R63R	NSFL1C_uc002wfd.2_Intron|NSFL1C_uc002wfe.2_Silent_p.R63R|NSFL1C_uc002wff.2_RNA	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	63						chromosome|Golgi stack|nucleus	lipid binding|protein binding				0						GGGCTGTGCCTCTGGACACTG	0.532000												
C20orf194	25943	broad.mit.edu	37	20	3362099	3362099	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:3362099A>G	uc002wii.2	-	3	261	c.210T>C	c.(208-210)TAT>TAC	p.Y70Y	C20orf194_uc010gay.1_RNA	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	70											0						CAAATAGAAGATAATTTGCCA	0.403000												
PANK2	80025	broad.mit.edu	37	20	3897602	3897602	+	Nonsense_Mutation	SNP	C	C	T	rs137852968		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:3897602C>T	uc002wkc.2	+	5	1447	c.1441C>T	c.(1441-1443)CGA>TGA	p.R481*	PANK2_uc002wkb.2_Nonsense_Mutation_p.R190*|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Nonsense_Mutation_p.R190*|PANK2_uc002wkf.2_Nonsense_Mutation_p.R45*|uc002wkg.2_5'Flank|MIR103-2_hsa-mir-103-2|MI0000108_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	481					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0						CAAGGAGAAGCGAGAGGCTGT	0.443000												
RASSF2	9770	broad.mit.edu	37	20	4776521	4776521	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:4776521C>T	uc002wld.2	-	4	281	c.227G>A	c.(226-228)CGC>CAC	p.R76H	RASSF2_uc002wlc.2_5'Flank|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.R76H	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	76					cell cycle|signal transduction	nucleus	protein binding			ovary(3)|lung(2)|large_intestine(1)	6						GGGTCGAATGCGTTCGTTGTC	0.622000												
C20orf7	79133	broad.mit.edu	37	20	13773858	13773858	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:13773858T>C	uc002wom.2	+	4	393	c.360T>C	c.(358-360)ATT>ATC	p.I120I	C20orf7_uc002wol.1_Silent_p.I120I|C20orf7_uc002won.2_Missense_Mutation_p.L127S|C20orf7_uc002woo.2_RNA	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN	hypothetical protein LOC79133 isoform 1	120					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity				0		Myeloproliferative disorder(85;0.00878)				AAGCTGACATTGCAGAAAATG	0.323000												
OTOR	56914	broad.mit.edu	37	20	16729076	16729076	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:16729076G>A	uc002wpj.2	+	1	74	c.30G>A	c.(28-30)CCG>CCA	p.P10P	OTOR_uc002wpk.2_5'Flank	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor	10					sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2						TTTTCCTCCCGGGTCTTGTGG	0.433000												
DSTN	11034	broad.mit.edu	37	20	17587777	17587777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:17587777G>T	uc002wpr.2	+	4	739	c.484G>T	c.(484-486)GGA>TGA	p.G162*	DSTN_uc002wpq.2_Nonsense_Mutation_p.G145*|DSTN_uc010gck.2_Nonsense_Mutation_p.G145*	NM_006870	NP_006861	P60981	DEST_HUMAN	destrin isoform a	162					actin filament severing|actin polymerization or depolymerization		actin binding			large_intestine(1)|skin(1)	2						AGCCTTTGAAGGATGCCCTGT	0.373000												
CD93	22918	broad.mit.edu	37	20	23065495	23065495	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:23065495G>A	uc002wsv.2	-	1	1483	c.1335C>T	c.(1333-1335)AAC>AAT	p.N445N		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	445	Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACCCTTGTGTGTTGAAGCACA	0.657000												
GZF1	64412	broad.mit.edu	37	20	23346303	23346303	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:23346303C>T	uc010gdb.2	+	3	1457	c.1283C>T	c.(1282-1284)ACA>ATA	p.T428I	GZF1_uc002wsy.2_Missense_Mutation_p.T428I|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.T428I	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	428	C2H2-type 4.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CACGAGCGCACACACACGGGA	0.716000												
C20orf160	140706	broad.mit.edu	37	20	30610484	30610484	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:30610484G>A	uc002wxf.2	+	6	968	c.955G>A	c.(955-957)GCA>ACA	p.A319T	C20orf160_uc002wxg.2_5'UTR	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	319										central_nervous_system(3)|ovary(1)	4						GGAGTCCTGCGCACTCATCTG	0.562000												
C20orf185	359710	broad.mit.edu	37	20	31656644	31656644	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:31656644A>G	uc002wym.1	+	10	1014	c.1014A>G	c.(1012-1014)CTA>CTG	p.L338L		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	338					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						AGCAACTCCTACTGTTCCTGC	0.522000												
CPNE1	8904	broad.mit.edu	37	20	34214277	34214277	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:34214277G>A	uc002xdf.2	-	18	1863	c.1500C>T	c.(1498-1500)ACC>ACT	p.T500T	CPNE1_uc002xdc.2_Silent_p.T162T|CPNE1_uc010zvj.1_Silent_p.T505T|CPNE1_uc002xde.2_Silent_p.T476T|CPNE1_uc002xdg.2_Silent_p.T444T|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.T500T|CPNE1_uc002xdi.2_Silent_p.T500T|CPNE1_uc002xdj.2_Silent_p.T500T|CPNE1_uc002xdk.2_Silent_p.T500T|CPNE1_uc002xdl.2_Silent_p.T500T|CPNE1_uc002xdm.2_Silent_p.T500T	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	500	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTGCGAGCACGGTCTGTGCCA	0.587000												
RBL1	5933	broad.mit.edu	37	20	35668582	35668582	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:35668582C>T	uc002xgi.2	-	14	1956	c.1877G>A	c.(1876-1878)CGA>CAA	p.R626Q	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.R626Q	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	626	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				ACTGTCAGTTCGAACTTCCTT	0.413000												
PLCG1	5335	broad.mit.edu	37	20	39791364	39791364	+	Missense_Mutation	SNP	C	C	T	rs141297485		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:39791364C>T	uc002xjp.1	+	6	801	c.680C>T	c.(679-681)ACG>ATG	p.T227M	PLCG1_uc002xjo.1_Missense_Mutation_p.T227M|PLCG1_uc010zwe.1_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	227					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				GCCCAGAAGACGGTGCATGAG	0.642000												
MATN4	8785	broad.mit.edu	37	20	43926646	43926646	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:43926646C>T	uc002xnn.2	-	8	1678	c.1491G>A	c.(1489-1491)TCG>TCA	p.S497S	MATN4_uc002xno.2_Silent_p.S456S|MATN4_uc002xnp.2_Silent_p.S415S|MATN4_uc010zwr.1_Silent_p.S445S|MATN4_uc002xnr.1_Silent_p.S497S	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	538	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CCGCTGGCTCCGAGGCGATCT	0.667000												
MATN4	8785	broad.mit.edu	37	20	43926973	43926973	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:43926973G>A	uc002xnn.2	-	7	1450	c.1263C>T	c.(1261-1263)GGC>GGT	p.G421G	MATN4_uc002xno.2_Silent_p.G380G|MATN4_uc002xnp.2_Silent_p.G339G|MATN4_uc010zwr.1_Silent_p.G369G|MATN4_uc002xnr.1_Silent_p.G421G	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	462	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CTGTCATGGTGCCGCGTTCCA	0.677000												
TP53TG5	27296	broad.mit.edu	37	20	44003782	44003782	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:44003782G>A	uc002xny.2	-	4	746	c.665C>T	c.(664-666)GCG>GTG	p.A222V	SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	TP53-target gene 5 protein	222					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)	1						CACCCTGGGCGCCGGGAGGTG	0.602000												
PCIF1	63935	broad.mit.edu	37	20	44569462	44569462	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:44569462G>A	uc002xqs.2	+	6	716	c.402G>A	c.(400-402)GTG>GTA	p.V134V		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	phosphorylated CTD interacting factor 1	134						nucleus				skin(1)	1						AAATCCCAGTGACACCCACAG	0.542000												
ZMYND8	23613	broad.mit.edu	37	20	45905096	45905096	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:45905096G>A	uc002xta.1	-	11	1636	c.1382C>T	c.(1381-1383)GCG>GTG	p.A461V	ZMYND8_uc010ghq.1_Missense_Mutation_p.A138V|ZMYND8_uc010ghr.1_Missense_Mutation_p.A436V|ZMYND8_uc002xst.1_Missense_Mutation_p.A436V|ZMYND8_uc002xsu.1_Missense_Mutation_p.A461V|ZMYND8_uc002xsv.1_Missense_Mutation_p.A436V|ZMYND8_uc002xsw.1_Missense_Mutation_p.A213V|ZMYND8_uc002xsx.1_Missense_Mutation_p.A213V|ZMYND8_uc002xsy.1_Missense_Mutation_p.A436V|ZMYND8_uc002xsz.1_Missense_Mutation_p.A398V|ZMYND8_uc010zxy.1_Missense_Mutation_p.A488V|ZMYND8_uc002xtb.1_Missense_Mutation_p.A481V|ZMYND8_uc002xss.2_Missense_Mutation_p.A461V|ZMYND8_uc010zxz.1_Missense_Mutation_p.A456V|ZMYND8_uc002xtc.1_Missense_Mutation_p.A481V|ZMYND8_uc002xtd.1_Missense_Mutation_p.A456V|ZMYND8_uc002xte.1_Missense_Mutation_p.A461V|ZMYND8_uc010zya.1_Missense_Mutation_p.A461V|ZMYND8_uc002xtf.1_Missense_Mutation_p.A481V|ZMYND8_uc002xtg.2_Missense_Mutation_p.A455V|ZMYND8_uc010ghs.1_Missense_Mutation_p.A455V	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	461							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)			CTCCTCGCTCGCACTGAAGTG	0.632000												
PREX1	57580	broad.mit.edu	37	20	47266655	47266655	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:47266655G>T	uc002xtw.1	-	24	2930	c.2907C>A	c.(2905-2907)CCC>CCA	p.P969P	PREX1_uc002xtv.1_Silent_p.P266P	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	969					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCAATTGGTGGGGCAGAAGT	0.597000												
STAU1	6780	broad.mit.edu	37	20	47734382	47734382	+	Missense_Mutation	SNP	C	C	T	rs146630196		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:47734382C>T	uc002xud.2	-	11	1852	c.1441G>A	c.(1441-1443)GTA>ATA	p.V481I	STAU1_uc002xua.2_Missense_Mutation_p.V400I|STAU1_uc002xub.2_Missense_Mutation_p.V406I|STAU1_uc002xuc.2_Missense_Mutation_p.V400I|STAU1_uc002xue.2_Missense_Mutation_p.V400I|STAU1_uc002xuf.2_Missense_Mutation_p.V406I|STAU1_uc002xug.2_Missense_Mutation_p.V481I	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	481						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCATGGGGTACGTGGCCTGAA	0.542000												
B4GALT5	9334	broad.mit.edu	37	20	48256216	48256216	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:48256216T>C	uc002xuu.3	-	7	1110	c.916A>G	c.(916-918)AGA>GGA	p.R306G		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	306	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CAGAGGTACCTGTTCCAGAGG	0.378000												
KCNG1	3755	broad.mit.edu	37	20	49626173	49626173	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:49626173G>A	uc002xwa.3	-	2	998	c.703C>T	c.(703-705)CTC>TTC	p.L235F	KCNG1_uc002xwb.2_Missense_Mutation_p.L235F	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	235	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						GTCACGAAGAGCACCGACAGG	0.706000												
CASS4	57091	broad.mit.edu	37	20	55033652	55033652	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:55033652G>A	uc002xxp.2	+	7	2435	c.2210G>A	c.(2209-2211)AGC>AAC	p.S737N	CASS4_uc002xxr.2_Missense_Mutation_p.S737N|CASS4_uc010zze.1_Missense_Mutation_p.S683N|CASS4_uc010gio.2_Missense_Mutation_p.S300N	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	737					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						CTCCGTGGCAGCAGTCACCTC	0.637000												
BMP7	655	broad.mit.edu	37	20	55803373	55803373	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:55803373G>T	uc010gip.1	-	2	1052	c.523C>A	c.(523-525)CGG>AGG	p.R175R	BMP7_uc010giq.1_Silent_p.R175R|BMP7_uc002xyc.2_Silent_p.R175R	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	175					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TTGTAGATCCGGAATTCGGCT	0.532000												
BMP7	655	broad.mit.edu	37	20	55840772	55840772	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:55840772A>G	uc010gip.1	-	1	936	c.407T>C	c.(406-408)TTC>TCC	p.F136S	BMP7_uc010giq.1_Missense_Mutation_p.F136S|BMP7_uc002xyc.2_Missense_Mutation_p.F136S|uc010gir.1_5'Flank	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	136					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GAGGTTGACGAAGCTCATGAC	0.617000												
ZNF831	128611	broad.mit.edu	37	20	57769496	57769496	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:57769496A>G	uc002yan.2	+	1	3422	c.3422A>G	c.(3421-3423)CAG>CGG	p.Q1141R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1141						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					ACTCGGCCTCAGGGTGTGCCC	0.672000												
PHACTR3	116154	broad.mit.edu	37	20	58348498	58348498	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:58348498C>T	uc002yau.2	+	6	1383	c.916C>T	c.(916-918)CGC>TGC	p.R306C	PHACTR3_uc002yat.2_Missense_Mutation_p.R303C|PHACTR3_uc010zzw.1_Missense_Mutation_p.R265C|PHACTR3_uc002yav.2_Missense_Mutation_p.R265C|PHACTR3_uc002yaw.2_Missense_Mutation_p.R265C|PHACTR3_uc002yax.2_Missense_Mutation_p.R195C	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	306						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CACGAAGCACCGCCAGGACAG	0.687000												
CDH4	1002	broad.mit.edu	37	20	60503309	60503309	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:60503309C>T	uc002ybn.1	+	12	1847	c.1833C>T	c.(1831-1833)AAC>AAT	p.N611N	CDH4_uc002ybp.1_Silent_p.N537N	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	611	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCAACGACAACGCCCCTGAGC	0.627000												
LAMA5	3911	broad.mit.edu	37	20	60904112	60904112	+	Splice_Site	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:60904112C>T	uc002ycq.2	-	34	4303	c.4236_splice	c.e34-1	p.S1412_splice		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGCTGGGGCTACATGGAGG	0.652000												
COL20A1	57642	broad.mit.edu	37	20	61959716	61959716	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:61959716A>G	uc011aau.1	+	34	3747	c.3647A>G	c.(3646-3648)AAC>AGC	p.N1216S	COL20A1_uc011aav.1_Missense_Mutation_p.N1043S	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1216					cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					TTCCACGAGAACACCAGGCCC	0.662000												
EEF1A2	1917	broad.mit.edu	37	20	62126345	62126345	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:62126345A>G	uc002yfd.1	-	3	535	c.434T>C	c.(433-435)GTG>GCG	p.V145A	EEF1A2_uc002yfe.1_Missense_Mutation_p.V145A|EEF1A2_uc010gkg.1_Missense_Mutation_p.V145A	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	145						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GAGCTGCTTCACACCCAGCGT	0.627000												
SON	6651	broad.mit.edu	37	21	34921957	34921957	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:34921957G>A	uc002yse.1	+	3	469	c.420G>A	c.(418-420)ACG>ACA	p.T140T	SON_uc002ysb.1_Silent_p.T140T|SON_uc002ysc.2_Silent_p.T140T|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	140					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						AGTCAAAGACGAAATCTCATG	0.303000											OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
DOPEY2	9980	broad.mit.edu	37	21	37597930	37597930	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:37597930G>A	uc002yvg.2	+	12	1517	c.1438G>A	c.(1438-1440)GCC>ACC	p.A480T	DOPEY2_uc011aeb.1_Missense_Mutation_p.A480T	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	480					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GGAGCTCTGCGCCCTCCTGGT	0.517000												
DOPEY2	9980	broad.mit.edu	37	21	37603085	37603085	+	Missense_Mutation	SNP	C	C	T	rs143591918		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:37603085C>T	uc002yvg.2	+	14	2082	c.2003C>T	c.(2002-2004)ACG>ATG	p.T668M	DOPEY2_uc011aeb.1_Missense_Mutation_p.T668M	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	668					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						AGGGATGGGACGCAGAGCCTG	0.542000												
ZNF295	49854	broad.mit.edu	37	21	43411449	43411449	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:43411449G>A	uc002zab.3	-	3	2970	c.2756C>T	c.(2755-2757)ACG>ATG	p.T919M	ZNF295_uc002yzz.3_Missense_Mutation_p.T718M|ZNF295_uc002yzy.3_Missense_Mutation_p.T919M|ZNF295_uc002zaa.3_Missense_Mutation_p.T919M	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	919	C2H2-type 6; atypical.				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	p.T919P(1)		ovary(1)|central_nervous_system(1)|skin(1)	3						CTTATGCACCGTGAACATCTT	0.537000												
RSPH1	89765	broad.mit.edu	37	21	43897412	43897412	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:43897412G>A	uc002zbg.2	-	7	821	c.716C>T	c.(715-717)CCA>CTA	p.P239L		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	239					meiosis	cytosol|nucleus				ovary(1)	1						CTCAGCTCCTGGAGCGTCTTG	0.637000												
PDXK	8566	broad.mit.edu	37	21	45175603	45175603	+	Missense_Mutation	SNP	A	A	G	rs145229797	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:45175603A>G	uc002zdm.3	+	10	982	c.784A>G	c.(784-786)ACC>GCC	p.T262A	PDXK_uc010gpj.2_Intron|PDXK_uc002zdn.3_Missense_Mutation_p.T234A|PDXK_uc002zdq.3_Missense_Mutation_p.T189A	NM_003681	NP_003672	O00764	PDXK_HUMAN	pyridoxal kinase	262					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding				0				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GACCGTGTCTACCTTGCACCA	0.647000												
TRPM2	7226	broad.mit.edu	37	21	45833838	45833838	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:45833838C>A	uc002zet.1	+	21	3240	c.3027C>A	c.(3025-3027)CCC>CCA	p.P1009P	TRPM2_uc002zeu.1_Silent_p.P1009P|TRPM2_uc002zew.1_Silent_p.P1009P|TRPM2_uc010gpt.1_Silent_p.P1009P|TRPM2_uc002zex.1_Silent_p.P795P|TRPM2_uc002zey.1_Silent_p.P522P	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1009	Extracellular (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CTAAGTGCCCCGAGAGCGACG	0.617000												
KRTAP10-7	386675	broad.mit.edu	37	21	46021324	46021324	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:46021324A>G	uc002zfn.3	+	2	813	c.788A>G	c.(787-789)CAG>CGG	p.Q263R	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	keratin associated protein 10-7	268	30 X 5 AA repeats of C-C-X(3).					keratin filament					0						CAAAGCCAGCAGGGCTGCTGC	0.627000												
PCNT	5116	broad.mit.edu	37	21	47754538	47754538	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:47754538A>G	uc002zji.3	+	3	602	c.495A>G	c.(493-495)CCA>CCG	p.P165P	PCNT_uc002zjj.2_Silent_p.P47P|PCNT_uc010gqk.1_RNA	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	165					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GTGACCACCCACCAGAACAGC	0.547000												
PCNT	5116	broad.mit.edu	37	21	47855992	47855992	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:47855992A>G	uc002zji.3	+	39	9034	c.8927A>G	c.(8926-8928)GAG>GGG	p.E2976G	PCNT_uc002zjj.2_Missense_Mutation_p.E2779G	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2976	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CGAGAGCTGGAGGCGATGAGG	0.697000												
MICAL3	57553	broad.mit.edu	37	22	18300751	18300751	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:18300751G>A	uc002zng.3	-	26	5029	c.4676C>T	c.(4675-4677)CCG>CTG	p.P1559L	MICAL3_uc011agl.1_Missense_Mutation_p.P1475L|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1559						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCCAGGGGCGGGTGGCGAGG	0.657000												
TXNRD2	10587	broad.mit.edu	37	22	19898899	19898899	+	Splice_Site	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:19898899C>T	uc011ahc.1	-	8	695	c.662_splice	c.e8+1	p.T221_splice	TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_Splice_Site|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_Splice_Site|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Splice_Site_p.T220_splice|TXNRD2_uc010grv.1_Splice_Site_p.T221_splice|TXNRD2_uc002zqj.1_Splice_Site|TXNRD2_uc002zqs.2_Splice_Site_p.T189_splice	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor						cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)					GCAGGCCTTACGTTTTTCCAG	0.522000												
TRMT2A	27037	broad.mit.edu	37	22	20100980	20100980	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:20100980G>A	uc002zrk.1	-	10	1622	c.1407C>T	c.(1405-1407)GAC>GAT	p.D469D	TRMT2A_uc002zrl.1_Silent_p.D469D|TRMT2A_uc002zrm.1_Silent_p.D291D|TRMT2A_uc002zrn.1_Silent_p.D487D	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	469					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						TCACCCGGGCGTCCTCCACAG	0.652000												
KLHL22	84861	broad.mit.edu	37	22	20819491	20819491	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:20819491G>A	uc002zsl.1	-	4	875	c.766C>T	c.(766-768)CGG>TGG	p.R256W	KLHL22_uc011ahr.1_Missense_Mutation_p.R113W|KLHL22_uc002zsm.1_Missense_Mutation_p.R256W	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	256					cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCATGCAGCCGCTGCAGGACC	0.632000												
KLHL22	84861	broad.mit.edu	37	22	20825700	20825700	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:20825700G>T	uc002zsl.1	-	3	439	c.330C>A	c.(328-330)ACC>ACA	p.T110T	KLHL22_uc011ahr.1_Intron|KLHL22_uc002zsm.1_Silent_p.T110T	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	110	BTB.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCAGCTCGGAGGTGTATATGA	0.522000												
SERPIND1	3053	broad.mit.edu	37	22	21133832	21133832	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:21133832G>A	uc002ztb.1	+	2	299	c.232G>A	c.(232-234)GAC>AAC	p.D78N	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.D106N	NM_000185	NP_000176	P05546	HEP2_HUMAN	heparin cofactor II precursor	78	2 X 11 AA approximate repeats, Asp/Glu- rich (acidic) (hirudin-like).|Chemotactic activity.|1.				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity				0	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	GGAGGACGACGACTATCTGGA	0.512000												
PPM1F	9647	broad.mit.edu	37	22	22285570	22285570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:22285570G>A	uc002zvp.1	-	6	955	c.841C>T	c.(841-843)CAG>TAG	p.Q281*	PPM1F_uc011aik.1_Nonsense_Mutation_p.Q177*|PPM1F_uc002zvq.2_Nonsense_Mutation_p.Q281*	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	281					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TGTCCCTGCTGTACCAAAATG	0.602000												
MYO18B	84700	broad.mit.edu	37	22	26423430	26423430	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:26423430A>G	uc003abz.1	+	43	7740	c.7490A>G	c.(7489-7491)GAG>GGG	p.E2497G	MYO18B_uc003aca.1_Missense_Mutation_p.E2378G|MYO18B_uc010guy.1_Missense_Mutation_p.E2379G|MYO18B_uc010guz.1_Missense_Mutation_p.E2377G|MYO18B_uc011aka.1_Missense_Mutation_p.E1651G|MYO18B_uc011akb.1_Missense_Mutation_p.E2010G|MYO18B_uc010gva.1_Missense_Mutation_p.E480G|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2497						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						AAGAGCCCGGAGCCCAAGGAG	0.537000												
AP1B1	162	broad.mit.edu	37	22	29754808	29754808	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:29754808G>A	uc003afj.2	-	5	616	c.432C>T	c.(430-432)TGC>TGT	p.C144C	AP1B1_uc003afi.2_Silent_p.C144C|AP1B1_uc003afk.2_Silent_p.C144C|AP1B1_uc003afl.2_Silent_p.C144C	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	144					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						GCTTGGCCACGCACACAGCTG	0.582000												
PISD	23761	broad.mit.edu	37	22	32015751	32015751	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:32015751A>G	uc003alm.3	-	8	1084	c.1077T>C	c.(1075-1077)AAT>AAC	p.N359N	PISD_uc003alk.2_Silent_p.N325N|PISD_uc003all.2_3'UTR|PISD_uc011alr.1_Silent_p.N324N|PISD_uc003aln.3_Silent_p.N321N	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	359					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	CGCCCTCTCTATTGGTGTGCG	0.592000												
DEPDC5	9681	broad.mit.edu	37	22	32302472	32302472	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:32302472A>G	uc003als.2	+	42	4850	c.4708A>G	c.(4708-4710)AGT>GGT	p.S1570G	DEPDC5_uc011als.1_Missense_Mutation_p.S1501G|DEPDC5_uc011alu.1_Missense_Mutation_p.S1601G|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.S1592G|DEPDC5_uc003alu.2_Missense_Mutation_p.S1019G|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.S868G|DEPDC5_uc011alx.1_Missense_Mutation_p.S418G|DEPDC5_uc010gwk.2_3'UTR|DEPDC5_uc011aly.1_Missense_Mutation_p.S418G	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1570					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GATGCATGCCAGTGCCCCGTG	0.612000												
LARGE	9215	broad.mit.edu	37	22	33700243	33700243	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:33700243G>A	uc003and.3	-	13	2281	c.1702C>T	c.(1702-1704)CCC>TCC	p.P568S	LARGE_uc011amd.1_Missense_Mutation_p.P367S|LARGE_uc003ane.3_Missense_Mutation_p.P568S|LARGE_uc010gwp.2_Missense_Mutation_p.P516S|LARGE_uc011ame.1_Missense_Mutation_p.P500S|LARGE_uc011amf.1_Missense_Mutation_p.P568S	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	568	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				CCATACATGGGCAGGAAGTCA	0.478000												
APOL3	80833	broad.mit.edu	37	22	36537420	36537420	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:36537420C>T	uc003aot.2	-	3	1075	c.1037G>A	c.(1036-1038)GGC>GAC	p.G346D	APOL3_uc003aoq.2_Missense_Mutation_p.G275D|APOL3_uc003aor.2_Missense_Mutation_p.G275D|APOL3_uc003aos.2_Missense_Mutation_p.G275D|APOL3_uc003aou.2_Missense_Mutation_p.G146D|APOL3_uc003aov.2_Missense_Mutation_p.G146D	NM_145640	NP_663615	O95236	APOL3_HUMAN	apolipoprotein L3 isoform 1	346					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity				0						AAGGAAGATGCCTGAAGTGGT	0.572000												
TRIOBP	11078	broad.mit.edu	37	22	38165162	38165162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:38165162C>T	uc003atr.2	+	20	6974	c.6703C>T	c.(6703-6705)CAG>TAG	p.Q2235*	TRIOBP_uc003atu.2_Nonsense_Mutation_p.Q2063*|TRIOBP_uc003atw.2_Nonsense_Mutation_p.Q522*|TRIOBP_uc003atx.1_Nonsense_Mutation_p.Q118*|TRIOBP_uc010gxh.2_Nonsense_Mutation_p.Q118*	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2235	Potential.				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)					CCGCTGCCAGCAGGAGGGCCA	0.701000												
CSNK1E	1454	broad.mit.edu	37	22	38698968	38698968	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:38698968G>A	uc003avj.2	-	4	495	c.234C>T	c.(232-234)AAC>AAT	p.N78N	CSNK1E_uc003avk.2_Silent_p.N78N|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Silent_p.N78N|CSNK1E_uc003avo.2_Silent_p.N78N|CSNK1E_uc003avp.1_Silent_p.N78N|CSNK1E_uc003avq.1_Silent_p.N78N|LOC400927_uc010gxm.2_RNA	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	78	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)					TGACCATCACGTTGTAGTCGC	0.617000												
ENTHD1	150350	broad.mit.edu	37	22	40283547	40283547	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:40283547C>T	uc003ayg.2	-	2	457	c.206G>A	c.(205-207)CGC>CAC	p.R69H		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	69	ENTH.									ovary(2)|skin(1)	3	Melanoma(58;0.0749)					ATACACGTGGCGCCAGTTCTT	0.403000												
MKL1	57591	broad.mit.edu	37	22	40814864	40814864	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:40814864C>T	uc003ayv.1	-	9	1785	c.1578G>A	c.(1576-1578)ATG>ATA	p.M526I	MKL1_uc003ayw.1_Missense_Mutation_p.M526I|MKL1_uc010gye.1_Missense_Mutation_p.M526I|MKL1_uc010gyf.1_Missense_Mutation_p.M476I	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	526	Potential.				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			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TCTCCTGCAGCATCTGGTCCT	0.672000			T	RBM15	acute megakaryocytic leukemia							
RRP7A	27341	broad.mit.edu	37	22	42908940	42908940	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:42908940G>A	uc003bcq.2	-	7	835	c.819C>T	c.(817-819)GCC>GCT	p.A273A	SERHL_uc011apm.1_Intron|RRP7A_uc003bcp.2_Silent_p.A296A	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A	273							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2						ATTTGCGCTGGGCCCGCAGCA	0.657000												
PACSIN2	11252	broad.mit.edu	37	22	43273001	43273001	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:43273001C>T	uc010gzg.2	-	9	1266	c.1044G>A	c.(1042-1044)CCG>CCA	p.P348P	PACSIN2_uc003bdg.3_Silent_p.P348P|PACSIN2_uc003bde.3_Silent_p.P348P|PACSIN2_uc003bdf.3_Intron	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	348					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				CGGGGTTGCTCGGGACATTAA	0.602000												
EFCAB6	64800	broad.mit.edu	37	22	43926756	43926756	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:43926756C>T	uc003bdy.1	-	31	4537	c.4322G>A	c.(4321-4323)CGC>CAC	p.R1441H	EFCAB6_uc003bdz.1_Missense_Mutation_p.R1289H|EFCAB6_uc010gzi.1_Missense_Mutation_p.R1289H	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1441	Interaction with AR.|EF-hand 16.|Interaction with PARK7.				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)				TTTGAACGTGCGCCGCATTGG	0.562000												
FAM118A	55007	broad.mit.edu	37	22	45719228	45719228	+	Missense_Mutation	SNP	G	G	A	rs34197967		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:45719228G>A	uc003bfz.3	+	4	836	c.220G>A	c.(220-222)GTC>ATC	p.V74I	FAM118A_uc003bga.3_Missense_Mutation_p.V74I	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	74						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCCCGGAGACGTCGCCGAGTT	0.602000												
WNT7B	7477	broad.mit.edu	37	22	46318884	46318884	+	Missense_Mutation	SNP	G	G	A	rs61735041		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:46318884G>A	uc003bgo.2	-	4	1276	c.902C>T	c.(901-903)GCG>GTG	p.A301V	WNT7B_uc010haa.2_Missense_Mutation_p.A305V	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	301					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			lung(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGCCGTCCGCGCCGGGCGA	0.642000												
GTSE1	51512	broad.mit.edu	37	22	46725365	46725365	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:46725365C>T	uc011aqy.1	+	11	2249	c.2037C>T	c.(2035-2037)CAC>CAT	p.H679H	GTSE1_uc011aqz.1_Silent_p.H526H|GTSE1_uc003bhn.2_RNA|uc011ara.1_5'Flank|uc003bho.3_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	660					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CAGAAGCACACGTGGCTGTAG	0.522000												
PANX2	56666	broad.mit.edu	37	22	50609382	50609382	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:50609382G>A	uc003bjn.3	+	1	223	c.223G>A	c.(223-225)GCA>ACA	p.A75T	PANX2_uc003bjp.3_5'UTR|PANX2_uc003bjo.3_Missense_Mutation_p.A75T	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	75	Extracellular (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CAAGAACTTCGCAGGTGAggc	0.582000												
ARSA	410	broad.mit.edu	37	22	51065135	51065135	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:51065135G>A	uc003bnb.3	-	5	985	c.732C>T	c.(730-732)CGC>CGT	p.R244R	ARSA_uc003bna.3_Silent_p.R160R|ARSA_uc003bnc.3_Silent_p.R244R|ARSA_uc003bnd.3_Silent_p.R244R|ARSA_uc003bmz.3_Silent_p.R244R|ARSA_uc010hbf.2_3'UTR	NM_001085426	NP_001078895	P15289	ARSA_HUMAN	arylsulfatase A isoform a precursor	244			R -> C (in MLD; juvenile-onset).|R -> H (in MLD; infantile-onset).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			pancreas(1)|skin(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CAAATGGCCCGCGGCCTGAAC	0.617000												
CNTN4	152330	broad.mit.edu	37	3	3085297	3085297	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:3085297A>C	uc003bpc.2	+	22	2941	c.2720A>C	c.(2719-2721)AAC>ACC	p.N907T	CNTN4_uc003bpe.2_Missense_Mutation_p.N579T|CNTN4_uc003bpf.2_Missense_Mutation_p.N578T|CNTN4_uc003bpg.2_Missense_Mutation_p.N163T	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	907	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCCCCCGGAAACATCATATGG	0.363000												
TRNT1	51095	broad.mit.edu	37	3	3189371	3189371	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:3189371A>G	uc003bpp.3	+	7	1142	c.1040A>G	c.(1039-1041)CAA>CGA	p.Q347R	TRNT1_uc010hbv.2_Missense_Mutation_p.Q327R|TRNT1_uc003bpm.2_RNA	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	347					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding				0				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AAACCCTATCAAGACTTCATT	0.294000												
SLC6A11	6538	broad.mit.edu	37	3	10979960	10979960	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:10979960A>G	uc003bvz.2	+	14	1805	c.1771A>G	c.(1771-1773)AGC>GGC	p.S591G		NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	591	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GACGACCCCCAGCACAGATCT	0.567000												
FBLN2	2199	broad.mit.edu	37	3	13655590	13655590	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:13655590G>T	uc011avb.1	+	5	1780	c.1655G>T	c.(1654-1656)TGC>TTC	p.C552F	FBLN2_uc011auz.1_Missense_Mutation_p.C578F|FBLN2_uc011ava.1_Missense_Mutation_p.C552F|FBLN2_uc011avc.1_Missense_Mutation_p.C552F|uc003byc.1_5'Flank	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	552	Anaphylatoxin-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ATGCTCTCCTGCTGTGAGGGT	0.627000												
KCNH8	131096	broad.mit.edu	37	3	19389298	19389298	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:19389298A>G	uc003cbk.1	+	5	847	c.652A>G	c.(652-654)AGC>GGC	p.S218G	KCNH8_uc011awe.1_Missense_Mutation_p.S218G|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	218	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TCTGCATTTTAGCACTTTTAA	0.373000												
RBMS3	27303	broad.mit.edu	37	3	29910399	29910399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:29910399C>T	uc003cel.2	+	7	918	c.688C>T	c.(688-690)CGA>TGA	p.R230*	RBMS3_uc003cek.2_Nonsense_Mutation_p.R230*|RBMS3_uc010hfq.2_Nonsense_Mutation_p.R230*|RBMS3_uc003cem.2_Nonsense_Mutation_p.R229*|RBMS3_uc010hfr.2_Nonsense_Mutation_p.R230*	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	230						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				ACAAAAGAAGCGACAGAATCA	0.458000												
GADL1	339896	broad.mit.edu	37	3	30880509	30880509	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:30880509T>C	uc003cep.2	-	9	930	c.883A>G	c.(883-885)AGC>GGC	p.S295G	GADL1_uc003ceq.1_Missense_Mutation_p.S295G	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	295					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding				0					Pyridoxal Phosphate(DB00114)	AGCCAGAGGCTGTGCCTCTCG	0.438000												
SUSD5	26032	broad.mit.edu	37	3	33249394	33249394	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:33249394A>G	uc003cfo.1	-	3	733	c.315T>C	c.(313-315)AGT>AGC	p.S105S		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	105	Extracellular (Potential).|Link.				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						GCTGTTCTCCACTTCCTTTGC	0.413000												
SLC22A13	9390	broad.mit.edu	37	3	38317132	38317132	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:38317132C>T	uc003chz.3	+	6	1045	c.991C>T	c.(991-993)CGG>TGG	p.R331W	SLC22A13_uc011aym.1_RNA|SLC22A13_uc011ayn.1_Missense_Mutation_p.R331W	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion	331	Cytoplasmic (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		CCCCCAGCTCCGGAAGGTGAC	0.597000												
GORASP1	64689	broad.mit.edu	37	3	39141917	39141917	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:39141917C>T	uc003ciw.1	-	6	742	c.644G>A	c.(643-645)GGC>GAC	p.G215D	GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Missense_Mutation_p.G120D|GORASP1_uc003ciz.1_Missense_Mutation_p.G60D	NM_031899	NP_114105	Q9BQQ3	GORS1_HUMAN	Golgi reassembly stacking protein 1	215	Pro-rich.				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				ovary(2)|central_nervous_system(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGGTGGGGTGCCAGGTGGCTT	0.597000												
VIPR1	7433	broad.mit.edu	37	3	42576492	42576492	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:42576492C>T	uc003clf.2	+	11	1160	c.1036C>T	c.(1036-1038)CTG>TTG	p.L346L	VIPR1_uc011azl.1_Silent_p.L298L|VIPR1_uc011azm.1_Silent_p.L136L|VIPR1_uc011azn.1_Silent_p.L319L|VIPR1_uc003clg.2_5'UTR	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	346	Helical; Name=6; (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CACACTCCTGCTGATCCCCCT	0.532000												
ZNF167	55888	broad.mit.edu	37	3	44598791	44598791	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:44598791G>A	uc010hin.2	+	2	640	c.252G>A	c.(250-252)ATG>ATA	p.M84I	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Missense_Mutation_p.M84I|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.M84I|ZNF167_uc003cnk.2_Missense_Mutation_p.M84I	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	84	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GGTGGCTCATGCCAGAGGTGC	0.602000												
ZNF502	91392	broad.mit.edu	37	3	44763810	44763810	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:44763810C>T	uc011baa.1	+	4	1756	c.1501C>T	c.(1501-1503)CGC>TGC	p.R501C	ZNF502_uc003cns.2_Missense_Mutation_p.R501C|ZNF502_uc011bab.1_Missense_Mutation_p.R501C|ZNF502_uc003cnt.2_Missense_Mutation_p.R501C	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	501	C2H2-type 13.				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)		GAAAACCTTCCGCAAGTATGC	0.413000												
LARS2	23395	broad.mit.edu	37	3	45435951	45435951	+	Silent	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:45435951T>G	uc003cop.1	+	3	191	c.6T>G	c.(4-6)GCT>GCG	p.A2A	LARS2_uc010hit.1_Silent_p.A2A	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	2					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GAAGAATGGCTTCTGTTTGGC	0.473000												
LRRC2	79442	broad.mit.edu	37	3	46571410	46571410	+	Missense_Mutation	SNP	G	G	A	rs142961281		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:46571410G>A	uc010hji.2	-	6	1122	c.758C>T	c.(757-759)CCG>CTG	p.P253L	LRRC2_uc003cpu.3_Missense_Mutation_p.P253L	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	253	LRR 6.									ovary(1)	1		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TATATCTTGCGGCAGGTCGGT	0.418000												
DHX30	22907	broad.mit.edu	37	3	47891514	47891514	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:47891514C>T	uc003cru.2	+	22	3915	c.3489C>T	c.(3487-3489)AGC>AGT	p.S1163S	DHX30_uc003crt.2_Silent_p.S1124S	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	1163						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTCCCCCCAGCGTACAGGAGG	0.682000											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BSN	8927	broad.mit.edu	37	3	49694830	49694830	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:49694830C>T	uc003cxe.3	+	5	7955	c.7841C>T	c.(7840-7842)ACG>ATG	p.T2614M		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2614					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)		AGTGTGCAGACGGACGACGAA	0.657000												
RPL29	6159	broad.mit.edu	37	3	52027966	52027966	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:52027966G>A	uc003dcs.2	-	4	373	c.279C>T	c.(277-279)CTC>CTT	p.L93L		NM_000992	NP_000983	P47914	RL29_HUMAN	ribosomal protein L29	93					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAAGTCGATCGAGCTTGCGGC	0.532000												
SEMA3G	56920	broad.mit.edu	37	3	52475387	52475387	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:52475387A>G	uc003dea.1	-	7	706	c.706T>C	c.(706-708)TCT>CCT	p.S236P		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	236	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TCCTGGTCAGAGTTCTCAGGG	0.627000												
STAB1	23166	broad.mit.edu	37	3	52539927	52539927	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:52539927G>A	uc003dej.2	+	16	1798	c.1724G>A	c.(1723-1725)CGG>CAG	p.R575Q	STAB1_uc003dei.1_Missense_Mutation_p.R575Q	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	575	Extracellular (Potential).|FAS1 2.				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)		GAGTTGGTGCGGTACCACATC	0.627000												
PBRM1	55193	broad.mit.edu	37	3	52712570	52712570	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:52712570T>G	uc003des.2	-	2	194	c.182A>C	c.(181-183)AAG>ACG	p.K61T	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.K61T|PBRM1_uc003der.2_Missense_Mutation_p.K61T|PBRM1_uc003det.2_Missense_Mutation_p.K61T|PBRM1_uc003deu.2_Missense_Mutation_p.K61T|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.K61T|PBRM1_uc010hmk.1_Missense_Mutation_p.K61T|PBRM1_uc003dey.2_Missense_Mutation_p.K61T|PBRM1_uc003dez.1_Missense_Mutation_p.K61T|PBRM1_uc003dfb.1_5'UTR	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	61					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGTTCATCCTTATAGTCTCG	0.443000			Mis|N|F|S|D|O		clear cell renal carcinoma|breast							
FAM3D	131177	broad.mit.edu	37	3	58629428	58629428	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:58629428T>C	uc003dkq.2	-	6	580	c.283A>G	c.(283-285)AAC>GAC	p.N95D		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	95					negative regulation of insulin secretion	extracellular region	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CCCACATTGTTTTTCACAGGA	0.527000												
C3orf67	200844	broad.mit.edu	37	3	58817562	58817562	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:58817562C>A	uc003dkt.1	-	13	1681	c.1272G>T	c.(1270-1272)CAG>CAT	p.Q424H	C3orf67_uc003dkr.1_RNA|C3orf67_uc003dks.1_Missense_Mutation_p.Q365H|uc003dku.1_Intron	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTGCTAGCATCTGTAACTCGG	0.488000												
THOC7	80145	broad.mit.edu	37	3	63825343	63825343	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:63825343G>A	uc003dlt.3	-	2	257	c.126C>T	c.(124-126)TCC>TCT	p.S42S	C3orf49_uc003dls.3_Intron|THOC7_uc003dlu.3_Intron	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Ngg1 interacting factor 3 like 1 binding protein	42					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	cytoplasm|THO complex part of transcription export complex	protein binding|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		CCTCTTCCTGGGACCCAGAGT	0.413000												
LRIG1	26018	broad.mit.edu	37	3	66434452	66434452	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:66434452G>A	uc003dmx.2	-	14	2048	c.2034C>T	c.(2032-2034)GCC>GCT	p.A678A	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Silent_p.A298A|LRIG1_uc003dmw.2_Silent_p.A344A|LRIG1_uc010hnz.2_Silent_p.A394A|LRIG1_uc010hoa.2_Intron	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	678	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AAATAGAACCGGCTGAGTTCT	0.433000												
ROBO2	6092	broad.mit.edu	37	3	77666706	77666706	+	Silent	SNP	T	T	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:77666706T>A	uc003dpy.3	+	22	3979	c.3336T>A	c.(3334-3336)ACT>ACA	p.T1112T	ROBO2_uc003dpz.2_Silent_p.T1116T|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.T1116T|ROBO2_uc003dqa.2_Silent_p.T239T	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1112	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGTACAAACTTACTTACACC	0.428000												
MINA	84864	broad.mit.edu	37	3	97677936	97677936	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:97677936C>T	uc003drz.1	-	4	1146	c.640G>A	c.(640-642)GAG>AAG	p.E214K	MINA_uc003dsa.1_Missense_Mutation_p.E214K|MINA_uc003dsb.1_Missense_Mutation_p.E214K|MINA_uc003dsc.1_Missense_Mutation_p.E214K|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_RNA	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	214	JmjC.				ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1						ATCCTTTCCTCGGCCTCCACG	0.557000												
GUCA1C	9626	broad.mit.edu	37	3	108635037	108635037	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:108635037G>A	uc003dxj.2	-	3	447	c.379C>T	c.(379-381)CAA>TAA	p.Q127*	GUCA1C_uc003dxk.2_Nonsense_Mutation_p.Q127*	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	127					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						CTCAGAGTTTGCTGGCCATTG	0.403000												
C3orf17	25871	broad.mit.edu	37	3	112724442	112724442	+	Missense_Mutation	SNP	A	A	G	rs150027810		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:112724442A>G	uc003dzr.2	-	9	1706	c.1645T>C	c.(1645-1647)TCA>CCA	p.S549P	GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.S174P|C3orf17_uc011bhz.1_Missense_Mutation_p.S174P|C3orf17_uc010hqh.2_Missense_Mutation_p.S174P|C3orf17_uc003dzt.2_Missense_Mutation_p.S452P|C3orf17_uc003dzs.2_Missense_Mutation_p.S413P|C3orf17_uc010hqg.2_Missense_Mutation_p.S374P|C3orf17_uc011bia.1_Missense_Mutation_p.S346P|C3orf17_uc003dzu.2_Missense_Mutation_p.S478P|C3orf17_uc011bib.1_Missense_Mutation_p.S438P|C3orf17_uc011bic.1_Missense_Mutation_p.S382P|C3orf17_uc011bid.1_RNA	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	549						integral to membrane					0						ATGGTTCCTGATGTACTGTTT	0.338000												
C3orf15	89876	broad.mit.edu	37	3	119434506	119434506	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:119434506G>A	uc003ede.3	+	6	675	c.598G>A	c.(598-600)GTT>ATT	p.V200I	C3orf15_uc003edc.2_Missense_Mutation_p.V200I|C3orf15_uc010hqy.1_Missense_Mutation_p.V200I|C3orf15_uc010hqz.2_Missense_Mutation_p.V138I|C3orf15_uc011bjd.1_Missense_Mutation_p.V74I|C3orf15_uc011bje.1_Missense_Mutation_p.V180I|C3orf15_uc010hra.1_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	200						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		GGATGCTGACGTTCAAACAGA	0.463000												
POLQ	10721	broad.mit.edu	37	3	121206287	121206287	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:121206287C>T	uc003eee.3	-	16	5620	c.5491G>A	c.(5491-5493)GCA>ACA	p.A1831T	POLQ_uc003eed.2_Missense_Mutation_p.A1003T	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1831					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TGGTCACTTGCTACATCAATT	0.393000								DNA_polymerases_(catalytic_subunits)				
SLC15A2	6565	broad.mit.edu	37	3	121647836	121647836	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:121647836C>T	uc003eep.2	+	16	1502	c.1349C>T	c.(1348-1350)CCA>CTA	p.P450L	SLC15A2_uc011bjn.1_Missense_Mutation_p.P419L	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	450					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CAGAAAACACCACACTATTCC	0.408000												
CD86	942	broad.mit.edu	37	3	121838326	121838326	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:121838326G>A	uc003eet.2	+	7	1051	c.935G>A	c.(934-936)CGT>CAT	p.R312H	CD86_uc011bjo.1_Missense_Mutation_p.R230H|CD86_uc011bjp.1_Missense_Mutation_p.R200H|CD86_uc003eeu.2_Missense_Mutation_p.R306H	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	312	Cytoplasmic (Potential).				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			pancreas(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GAAGCCCAGCGTGTTTTTAAA	0.323000												
MYLK	4638	broad.mit.edu	37	3	123367879	123367879	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:123367879C>T	uc003ego.2	-	26	4636	c.4354G>A	c.(4354-4356)GTG>ATG	p.V1452M	MYLK_uc010hrr.2_Translation_Start_Site|MYLK_uc011bjv.1_Missense_Mutation_p.V252M|MYLK_uc011bjw.1_Missense_Mutation_p.V1452M|MYLK_uc003egp.2_Missense_Mutation_p.V1383M|MYLK_uc003egq.2_Missense_Mutation_p.V1452M|MYLK_uc003egr.2_Missense_Mutation_p.V1383M|MYLK_uc003egs.2_Missense_Mutation_p.V1276M	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1452	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTGATTGTCACTGTCCGGTAA	0.537000												
KALRN	8997	broad.mit.edu	37	3	124437898	124437898	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:124437898G>A	uc003ehg.2	+	60	8669	c.8542G>A	c.(8542-8544)GCC>ACC	p.A2848T	KALRN_uc003ehk.2_Missense_Mutation_p.A1151T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2847	Protein kinase.				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						TGAGTTTGCTGCCCCAGAAGT	0.557000												
PLXND1	23129	broad.mit.edu	37	3	129289882	129289882	+	Splice_Site	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:129289882C>T	uc003emx.2	-	18	3700	c.3600_splice	c.e18+1	p.H1200_splice		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor						axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						TTGGTGCTCACGTGGATAACG	0.647000												
TRH	7200	broad.mit.edu	37	3	129694799	129694799	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:129694799G>A	uc003enc.2	+	2	701	c.140G>A	c.(139-141)CGC>CAC	p.R47H		NM_007117	NP_009048	P20396	TRH_HUMAN	thyrotropin-releasing hormone	47					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1						GACTTCCTGCGCCAGGTGGAG	0.692000												
COL6A6	131873	broad.mit.edu	37	3	130289947	130289947	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:130289947A>G	uc010htl.2	+	6	2718	c.2687A>G	c.(2686-2688)GAC>GGC	p.D896G		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	896	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GGCTTCTCAGACCACATGTTC	0.532000												
PIK3R4	30849	broad.mit.edu	37	3	130398201	130398201	+	Silent	SNP	G	G	A	rs140271304		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:130398201G>A	uc003enj.2	-	20	4616	c.4035C>T	c.(4033-4035)ATC>ATT	p.I1345I		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1345	WD 7.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						AAGCAGTTACGATGAAGCCCT	0.423000												
C3orf36	80111	broad.mit.edu	37	3	133647384	133647384	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:133647384C>T	uc003epz.1	-	1	1273	c.264G>A	c.(262-264)GCG>GCA	p.A88A		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	hypothetical protein LOC80111	88										ovary(1)	1						GCTGGGAGCACGCGGGAGGAC	0.677000												
EPHB1	2047	broad.mit.edu	37	3	134880926	134880926	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:134880926C>T	uc003eqt.2	+	7	1709	c.1489C>T	c.(1489-1491)CGG>TGG	p.R497W	EPHB1_uc003equ.2_Missense_Mutation_p.R58W	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	497	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						TGATGGGCTGCGGCCTGGCAT	0.527000												
EPHB1	2047	broad.mit.edu	37	3	134968296	134968296	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:134968296T>C	uc003eqt.2	+	15	3029	c.2809T>C	c.(2809-2811)TTC>CTC	p.F937L	EPHB1_uc003equ.2_Missense_Mutation_p.F498L	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	937	Cytoplasmic (Potential).|SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CACTGCTGGCTTCACCTCCCT	0.557000												
MSL2	55167	broad.mit.edu	37	3	135870677	135870677	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:135870677C>T	uc003eqx.1	-	2	1779	c.1046G>A	c.(1045-1047)AGT>AAT	p.S349N	MSL2_uc011bmb.1_Missense_Mutation_p.S275N	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	349					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						AACTTTCTCACTGTCACTCTC	0.453000												
TMEM22	80723	broad.mit.edu	37	3	136574264	136574264	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:136574264T>G	uc003erf.3	+	2	1176	c.962T>G	c.(961-963)CTC>CGC	p.L321R	TMEM22_uc003erg.3_Missense_Mutation_p.L321R|TMEM22_uc010hub.2_Missense_Mutation_p.L321R	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN	transmembrane protein 22	321	DUF6 2.|Helical; (Potential).					Golgi apparatus|integral to membrane				ovary(1)	1						TGGAGTTATCTCATTGCTATA	0.393000												
FOXL2	668	broad.mit.edu	37	3	138665150	138665150	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:138665150C>T	uc003esw.2	-	1	833	c.415G>A	c.(415-417)GAG>AAG	p.E139K	uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	forkhead box L2	139	Fork-head.				convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			ovary(266)|large_intestine(1)|skin(1)	268						TTGCCCTTCTCGAACATGTCT	0.642000			Mis		granulosa-cell tumour of the ovary		Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III					
RBP2	5948	broad.mit.edu	37	3	139173610	139173610	+	Silent	SNP	G	G	A	rs141722744		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:139173610G>A	uc003eth.2	-	3	366	c.315C>T	c.(313-315)CGC>CGT	p.R105R		NM_004164	NP_004155	P50120	RET2_HUMAN	retinol binding protein 2, cellular	105					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			skin(1)	1					Vitamin A(DB00162)	GCTTCCAGCCGCGGTTCTCCT	0.527000												
GRK7	131890	broad.mit.edu	37	3	141499527	141499527	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:141499527T>C	uc011bnd.1	+	2	1008	c.924T>C	c.(922-924)CAT>CAC	p.H308H		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	308	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						TGCACCTCCATGAACTCGGCA	0.567000												
CHST2	9435	broad.mit.edu	37	3	142840569	142840569	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:142840569A>G	uc003evm.2	+	2	1800	c.911A>G	c.(910-912)AAG>AGG	p.K304R		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	304	Lumenal (Potential).			K->A: Loss of function.	inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						CTAGTCATAAAGGGTGTGCGC	0.657000												
RNF13	11342	broad.mit.edu	37	3	149678725	149678725	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:149678725C>T	uc003exn.3	+	11	1764	c.980C>T	c.(979-981)TCG>TTG	p.S327L	RNF13_uc003exp.3_Missense_Mutation_p.S327L|RNF13_uc010hvh.2_Missense_Mutation_p.S208L	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13	327	Cytoplasmic (Potential).				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGGGCTTTATCGGAATCCCGC	0.413000												
P2RY12	64805	broad.mit.edu	37	3	151056359	151056359	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:151056359A>G	uc003eyw.1	-	2	491	c.275T>C	c.(274-276)CTG>CCG	p.L92P	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_Missense_Mutation_p.L92P|P2RY12_uc003eyx.1_Missense_Mutation_p.L92P	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y12	92	Extracellular (Potential).				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	AAAAGTTCTCAGTGGTCCTGT	0.353000												
MED12L	116931	broad.mit.edu	37	3	151072930	151072930	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:151072930C>T	uc003eyp.2	+	16	2353	c.2315C>T	c.(2314-2316)GCC>GTC	p.A772V	MED12L_uc011bnz.1_Missense_Mutation_p.A632V|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_5'Flank	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	772					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGACAAAAAGCCAGGAAGAAC	0.343000												
P2RY1	5028	broad.mit.edu	37	3	152553984	152553984	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:152553984G>A	uc003ezq.2	+	1	1249	c.413G>A	c.(412-414)AGC>AAC	p.S138N		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	138	Helical; Name=3; (Potential).			Missing (in Ref. 1; CAA89066).	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTCTATGGCAGCATCTTGTTT	0.498000												
CCNL1	57018	broad.mit.edu	37	3	156867298	156867298	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:156867298T>C	uc003fbf.2	-	9	1708	c.1109A>G	c.(1108-1110)CAG>CGG	p.Q370R	CCNL1_uc003fbd.1_Missense_Mutation_p.Q370R|CCNL1_uc003fbe.2_Missense_Mutation_p.Q164R|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA|CCNL1_uc003fbi.1_Missense_Mutation_p.Q215R	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	cyclin L1	370					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			lung(3)|breast(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TTTGGAAGCCTGTTGTCTATC	0.368000												
SMC4	10051	broad.mit.edu	37	3	160119879	160119879	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:160119879A>G	uc003fdh.2	+	3	429	c.316A>G	c.(316-318)AAG>GAG	p.K106E	IFT80_uc003fda.2_Intron|IFT80_uc011boy.1_5'Flank|IFT80_uc003fdd.1_5'Flank|IFT80_uc003fde.1_5'Flank|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.K106E|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.K81E|SMC4_uc003fdj.2_Missense_Mutation_p.K106E|SMC4_uc010hwd.2_Missense_Mutation_p.K106E|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	106					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACCTTTCCATAAGGTATTTGT	0.318000												
SMC4	10051	broad.mit.edu	37	3	160142781	160142781	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:160142781C>T	uc003fdh.2	+	16	2565	c.2452C>T	c.(2452-2454)CTA>TTA	p.L818L	IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Silent_p.L582L|SMC4_uc003fdi.2_Silent_p.L793L|SMC4_uc003fdj.2_Silent_p.L818L|SMC4_uc010hwd.2_Silent_p.L818L|SMC4_uc003fdl.2_Silent_p.L521L	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	818	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAGGAACACACTAGAAAAATT	0.299000												
SI	6476	broad.mit.edu	37	3	164754250	164754250	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:164754250T>C	uc003fei.2	-	22	2504	c.2442A>G	c.(2440-2442)CTA>CTG	p.L814L		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	814	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTATAAGTCCTAGAGGATTCT	0.338000										HNSCC(35;0.089)		
SI	6476	broad.mit.edu	37	3	164780247	164780247	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:164780247A>G	uc003fei.2	-	9	994	c.932T>C	c.(931-933)ATA>ACA	p.I311T		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	311	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATATGTTACTATTGGAGTAGG	0.328000										HNSCC(35;0.089)		
SI	6476	broad.mit.edu	37	3	164786978	164786978	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:164786978A>G	uc003fei.2	-	4	323	c.261T>C	c.(259-261)ATT>ATC	p.I87I		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	87	Lumenal.|P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTGTGCACAAATTCCCTGAT	0.348000										HNSCC(35;0.089)		
BCHE	590	broad.mit.edu	37	3	165548072	165548072	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:165548072C>A	uc003fem.3	-	2	910	c.750G>T	c.(748-750)CTG>CTT	p.L250L	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	250					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ATCCACTTTGCAGAATGGCTC	0.438000												
SLC7A14	57709	broad.mit.edu	37	3	170218995	170218995	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:170218995C>T	uc003fgz.2	-	3	760	c.444G>A	c.(442-444)GCG>GCA	p.A148A	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	148						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)			TGGCTCCGGCCGCAGTGCCAA	0.562000												
FNDC3B	64778	broad.mit.edu	37	3	172013305	172013305	+	Splice_Site	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:172013305G>A	uc003fhy.2	+	8	1173	c.1001_splice	c.e8+1	p.S334_splice	FNDC3B_uc003fhz.3_Splice_Site_p.S334_splice|FNDC3B_uc003fia.2_Splice_Site_p.S265_splice	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B							endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TAATTTACAGGTTGTGTATGT	0.393000												
PIK3CA	5290	broad.mit.edu	37	3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	rs121913272		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:178927980T>C	uc003fjk.2	+	8	1415	c.1258T>C	c.(1258-1260)TGT>CGT	p.C420R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	420	C2 PI3K-type.		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C420R(26)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAAGGAACACTGTCCATTGGC	0.328000	C420R(EFM192A_BREAST)|C420R(OVISE_OVARY)|C420R(HEC151_ENDOMETRIUM)|C420R(CCK81_LARGE_INTESTINE)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
MCF2L2	23101	broad.mit.edu	37	3	183097179	183097179	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:183097179C>T	uc003fli.1	-	3	271	c.181G>A	c.(181-183)GCC>ACC	p.A61T	MCF2L2_uc003flj.1_Missense_Mutation_p.A61T|MCF2L2_uc003flp.1_Missense_Mutation_p.A96T	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	61	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)			ATGATGGGGGCGCCATCCTCC	0.512000												
DVL3	1857	broad.mit.edu	37	3	183882993	183882993	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:183882993G>A	uc003fms.2	+	6	832	c.692G>A	c.(691-693)CGG>CAG	p.R231Q	DVL3_uc011bqw.1_Missense_Mutation_p.R231Q|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_Missense_Mutation_p.R63Q	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	231					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGGATTGAGCGGGTATGGGGT	0.597000												
EIF4G1	1981	broad.mit.edu	37	3	184043121	184043121	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:184043121G>A	uc003fnp.2	+	19	3119	c.2921G>A	c.(2920-2922)CGC>CAC	p.R974H	EIF4G1_uc003fno.1_Missense_Mutation_p.R915H|EIF4G1_uc010hxw.1_Missense_Mutation_p.R810H|EIF4G1_uc003fnt.2_Missense_Mutation_p.R685H|EIF4G1_uc003fnq.2_Missense_Mutation_p.R887H|EIF4G1_uc003fnr.2_Missense_Mutation_p.R810H|EIF4G1_uc010hxx.2_Missense_Mutation_p.R981H|EIF4G1_uc003fns.2_Missense_Mutation_p.R934H|EIF4G1_uc010hxy.2_Missense_Mutation_p.R981H|EIF4G1_uc003fnv.3_Missense_Mutation_p.R975H|EIF4G1_uc003fnu.3_Missense_Mutation_p.R974H|EIF4G1_uc003fnw.2_Missense_Mutation_p.R981H|EIF4G1_uc003fnx.2_Missense_Mutation_p.R779H|EIF4G1_uc003fny.3_Missense_Mutation_p.R778H|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	974	eIF3/EIF4A-binding.			R->A: Abolishes binding to EIF4A; when associated with A-976.	insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGTCATCCCGCATCCGCTTT	0.527000												
VPS8	23355	broad.mit.edu	37	3	184570321	184570321	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:184570321G>A	uc003fpb.1	+	10	952	c.781G>A	c.(781-783)GAC>AAC	p.D261N	VPS8_uc010hyd.1_Missense_Mutation_p.D261N	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b	263							zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AATTTGCAACGACAGCGGAGG	0.318000												
FETUB	26998	broad.mit.edu	37	3	186364098	186364098	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:186364098C>T	uc010hyq.2	+	6	917	c.656C>T	c.(655-657)TCC>TTC	p.S219F	FETUB_uc011brz.1_Missense_Mutation_p.S71F|FETUB_uc003fqn.2_Missense_Mutation_p.S219F|FETUB_uc003fqo.2_Missense_Mutation_p.S114F|FETUB_uc010hyr.2_Missense_Mutation_p.S182F|FETUB_uc010hys.2_Missense_Mutation_p.S71F|FETUB_uc003fqp.3_Missense_Mutation_p.S154F	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	219	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TGTACTAAATCCCAGGCCAGC	0.403000												
ATP13A4	84239	broad.mit.edu	37	3	193153486	193153486	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:193153486A>G	uc003ftd.2	-	24	2828	c.2720T>C	c.(2719-2721)ATG>ACG	p.M907T	ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	907	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTACAGAGCCATGTACTTAAA	0.413000												
LRRC15	131578	broad.mit.edu	37	3	194080146	194080146	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:194080146C>T	uc003ftu.2	-	2	1713	c.1627G>A	c.(1627-1629)GCC>ACC	p.A543T	LRRC15_uc003ftt.2_Missense_Mutation_p.A549T	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	543	Helical; (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ATTACAATGGCGGCAATGGCC	0.592000												
ATP13A3	79572	broad.mit.edu	37	3	194147932	194147932	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:194147932C>T	uc003fty.3	-	28	3399	c.2997G>A	c.(2995-2997)TCG>TCA	p.S999S	ATP13A3_uc003ftx.3_5'Flank	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	999					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATATAAGACCCGAAGGTGGTC	0.383000												
C3orf21	152002	broad.mit.edu	37	3	194947467	194947467	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:194947467G>A	uc003fum.3	-	2	731	c.623C>T	c.(622-624)TCG>TTG	p.S208L	C3orf21_uc011bsw.1_Missense_Mutation_p.S62L	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	208						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		CATGGCGACCGAGAGGAAGAA	0.542000												
MFI2	4241	broad.mit.edu	37	3	196748318	196748318	+	Silent	SNP	G	G	A	rs148913417	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:196748318G>A	uc003fxk.3	-	6	782	c.669C>T	c.(667-669)GAC>GAT	p.D223D	MFI2_uc003fxl.3_Silent_p.D223D|MFI2_uc011bua.1_Missense_Mutation_p.T196M	NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	223	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|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;0.00536)		CAAAAGCCACGTCCCCTGCCC	0.672000												
TMEM175	84286	broad.mit.edu	37	4	941568	941568	+	Missense_Mutation	SNP	C	C	A	rs148512239	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:941568C>A	uc003gbq.2	+	2	139	c.41C>A	c.(40-42)CCG>CAG	p.P14Q	TMEM175_uc010ibl.1_Missense_Mutation_p.P14Q|TMEM175_uc003gbp.1_5'UTR|TMEM175_uc003gbr.2_5'UTR|TMEM175_uc003gbu.2_Intron|TMEM175_uc003gbs.2_5'UTR|TMEM175_uc003gbt.2_5'UTR|TMEM175_uc003gbv.2_Intron	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	14						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTGGATACACCGGGGGACTGC	0.672000												
RNF212	285498	broad.mit.edu	37	4	1066733	1066733	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:1066733C>T	uc003gcj.2	-	10	1153	c.823G>A	c.(823-825)GAC>AAC	p.D275N	RNF212_uc003gch.2_Intron|RNF212_uc003gci.2_3'UTR|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_3'UTR	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	ring finger protein 212 isoform a	275							zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CTGAACGTGTCCAGGGTGCCC	0.363000											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
WHSC1	7468	broad.mit.edu	37	4	1906092	1906092	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:1906092T>C	uc003gdz.3	+	3	923	c.747T>C	c.(745-747)TAT>TAC	p.Y249Y	WHSC1_uc003geb.3_Silent_p.Y249Y|WHSC1_uc003gec.3_Silent_p.Y249Y|WHSC1_uc003ged.3_Silent_p.Y249Y|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Silent_p.Y249Y|WHSC1_uc003gdy.1_Silent_p.Y249Y|WHSC1_uc010icd.1_Silent_p.Y249Y|WHSC1_uc003gea.1_Silent_p.Y249Y|WHSC1_uc010ice.1_Silent_p.Y249Y|WHSC1_uc003geg.1_Silent_p.Y249Y|WHSC1_uc003geh.1_Silent_p.Y249Y	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	249	PWWP 1.				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)		TTCACAGCTATACCAAACTTA	0.418000			T	IGH@	MM							
ZFYVE28	57732	broad.mit.edu	37	4	2306773	2306773	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:2306773C>T	uc003gex.1	-	8	1613	c.1294G>A	c.(1294-1296)GAC>AAC	p.D432N	ZFYVE28_uc011bvk.1_Missense_Mutation_p.D362N|ZFYVE28_uc011bvl.1_Missense_Mutation_p.D402N|ZFYVE28_uc003gew.1_Missense_Mutation_p.D318N	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	432					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3						TCCTGGGGGTCGGCCCAGGTA	0.667000												
STK32B	55351	broad.mit.edu	37	4	5399935	5399935	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:5399935G>A	uc003gih.1	+	5	500	c.436G>A	c.(436-438)GAC>AAC	p.D146N	STK32B_uc010ida.1_Missense_Mutation_p.D99N	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	146	Protein kinase.	Proton acceptor (By similarity).					ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						CTTTTACAGAGACATCAAGCC	0.473000												
WFS1	7466	broad.mit.edu	37	4	6302928	6302928	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:6302928C>T	uc003giy.2	+	8	1572	c.1406C>T	c.(1405-1407)TCG>TTG	p.S469L	WFS1_uc003gix.2_Missense_Mutation_p.S469L|WFS1_uc003giz.2_Missense_Mutation_p.S287L	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	469	Helical; (Potential).				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		GGCCTGCTATCGCTGCTGCCC	0.642000												
CCDC96	257236	broad.mit.edu	37	4	7043252	7043252	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:7043252C>T	uc003gjv.2	-	1	1477	c.1414G>A	c.(1414-1416)GCC>ACC	p.A472T	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	472											0						CTTCCTAGGGCGGCCTGGGCC	0.547000												
SLC2A9	56606	broad.mit.edu	37	4	9943581	9943581	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:9943581C>T	uc003gmc.2	-	6	831	c.770G>A	c.(769-771)CGC>CAC	p.R257H	SLC2A9_uc003gmd.2_Missense_Mutation_p.R228H	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	solute carrier family 2, member 9 protein	257	Cytoplasmic (Potential).				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			ovary(3)	3						GAGCAGGTAGCGTGGGCTGTC	0.577000												
PROM1	8842	broad.mit.edu	37	4	16026930	16026930	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:16026930C>T	uc003goo.2	-	5	727	c.515G>A	c.(514-516)GGC>GAC	p.G172D	PROM1_uc003gor.2_Missense_Mutation_p.G172D|PROM1_uc003gos.2_Missense_Mutation_p.G163D|PROM1_uc003got.2_Missense_Mutation_p.G172D|PROM1_uc003gou.2_Missense_Mutation_p.G163D|PROM1_uc003gop.2_Missense_Mutation_p.G163D|PROM1_uc003goq.3_Missense_Mutation_p.G163D|PROM1_uc010iec.1_Missense_Mutation_p.G50D	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	172	Helical; (Potential).				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						ATAGAAGATGCCAATGCTGCA	0.493000												
NCAPG	64151	broad.mit.edu	37	4	17838932	17838932	+	Missense_Mutation	SNP	G	G	A	rs111401034		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:17838932G>A	uc003gpp.2	+	15	2436	c.2260G>A	c.(2260-2262)GTG>ATG	p.V754M	NCAPG_uc011bxj.1_Missense_Mutation_p.V263M	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	754					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		TTGCCTAGGCGTGTTCTTCCC	0.413000												
PACRGL	133015	broad.mit.edu	37	4	20715115	20715115	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:20715115G>A	uc010iek.2	+	7	953	c.562G>A	c.(562-564)GTT>ATT	p.V188I	PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.V236I|PACRGL_uc003gpz.2_Missense_Mutation_p.V188I|PACRGL_uc011bxm.1_Missense_Mutation_p.V135I|PACRGL_uc003gqa.2_Missense_Mutation_p.V90I|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.V188I|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Missense_Mutation_p.V90I|PACRGL_uc003gpy.2_Missense_Mutation_p.V135I	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like isoform 1	188							binding				0						GCTAAGTGTCGTTGTTGGTCC	0.423000												
ARAP2	116984	broad.mit.edu	37	4	36231038	36231038	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:36231038A>C	uc003gsq.1	-	2	409	c.71T>G	c.(70-72)CTC>CGC	p.L24R	ARAP2_uc003gsr.1_Missense_Mutation_p.L24R	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	24	SAM.				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						GAAATGTAAGAGATACTGCTC	0.393000												
TLR10	81793	broad.mit.edu	37	4	38775306	38775306	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:38775306C>T	uc003gti.2	-	2	2285	c.1906G>A	c.(1906-1908)GCA>ACA	p.A636T	TLR10_uc003gtj.2_Missense_Mutation_p.A636T|TLR10_uc003gtk.2_Missense_Mutation_p.A636T	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	636	TIR.|Cytoplasmic (Potential).				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			lung(1)|breast(1)	2						GAAATAAATGCGTGGAATCGG	0.418000												
KLHL5	51088	broad.mit.edu	37	4	39109197	39109197	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:39109197G>A	uc003gts.2	+	8	1747	c.1672G>A	c.(1672-1674)GTA>ATA	p.V558I	KLHL5_uc003gtp.2_Missense_Mutation_p.V512I|KLHL5_uc003gtq.2_Missense_Mutation_p.V371I|KLHL5_uc003gtr.1_Missense_Mutation_p.V558I|KLHL5_uc003gtt.2_Missense_Mutation_p.V497I	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1	558	Kelch 2.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1						AGGTGTGGCTGTACTGGAAGG	0.438000												
KCTD8	386617	broad.mit.edu	37	4	44450036	44450036	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:44450036C>T	uc003gwu.2	-	1	789	c.505G>A	c.(505-507)GTC>ATC	p.V169I		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	169						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						ccCTGCGAGACGTTGTCCTCC	0.333000										HNSCC(17;0.042)		
COMMD8	54951	broad.mit.edu	37	4	47455198	47455198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:47455198G>A	uc003gxi.2	-	4	417	c.409C>T	c.(409-411)CGA>TGA	p.R137*		NM_017845	NP_060315	Q9NX08	COMD8_HUMAN	COMM domain containing 8	137	COMM.						protein binding				0						AGTGGCATTCGTAATGCAGCA	0.323000												
CNGA1	1259	broad.mit.edu	37	4	47942795	47942795	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:47942795C>T	uc003gxt.3	-	10	915	c.649G>A	c.(649-651)GTA>ATA	p.V217I	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.V286I	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	217	Helical; Name=H2; (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						CTTGTTCGTACAAACATATCG	0.289000												
TXK	7294	broad.mit.edu	37	4	48096171	48096171	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:48096171C>T	uc003gxx.3	-	8	718	c.632G>A	c.(631-633)GGA>GAA	p.G211E	TXK_uc003gxy.1_Missense_Mutation_p.G211E	NM_003328	NP_003319	P42681	TXK_HUMAN	TXK tyrosine kinase	211	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0						ATACCACTGTCCTGAGTCATT	0.413000												
FRYL	285527	broad.mit.edu	37	4	48595988	48595988	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:48595988T>C	uc003gyh.1	-	16	1899	c.1294A>G	c.(1294-1296)AGT>GGT	p.S432G	FRYL_uc003gyk.2_Missense_Mutation_p.S432G	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						TTTCCAACACTGAGAAGATCA	0.184000												
FRYL	285527	broad.mit.edu	37	4	48621329	48621329	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:48621329A>G	uc003gyh.1	-	7	978	c.373T>C	c.(373-375)TTC>CTC	p.F125L	FRYL_uc003gyk.2_Missense_Mutation_p.F125L|FRYL_uc003gyl.1_Missense_Mutation_p.F176L	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						CAAAAAATGAAGTCTACTGCT	0.348000												
KIT	3815	broad.mit.edu	37	4	55573423	55573423	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:55573423A>G	uc010igr.2	+	6	1172	c.1085A>G	c.(1084-1086)TAT>TGT	p.Y362C	KIT_uc010igs.2_Missense_Mutation_p.Y362C	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	362	Ig-like C2-type 4.|Extracellular (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGGAAGATTATCCCAAGTCT	0.398000		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors			
CEP135	9662	broad.mit.edu	37	4	56883935	56883935	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:56883935C>T	uc003hbi.2	+	22	3158	c.2924C>T	c.(2923-2925)TCA>TTA	p.S975L	CEP135_uc003hbj.2_Missense_Mutation_p.S681L	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	975	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					AATGACTTGTCATCTCTTAGA	0.358000												
LPHN3	23284	broad.mit.edu	37	4	62862015	62862015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:62862015G>A	uc010ihh.2	+	17	3212	c.3039G>A	c.(3037-3039)TGG>TGA	p.W1013*	LPHN3_uc003hcq.3_Nonsense_Mutation_p.W1013*|LPHN3_uc003hct.2_Nonsense_Mutation_p.W406*	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	1000	Extracellular (Potential).				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						GCAGATGTTGGCTCCGACTTG	0.408000												
STAP1	26228	broad.mit.edu	37	4	68442967	68442967	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:68442967C>T	uc003hde.3	+	4	435	c.353C>T	c.(352-354)ACA>ATA	p.T118I	STAP1_uc003hdf.2_Missense_Mutation_p.T118I	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	118	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm					0						TTCATTCTTACAGTAACAGAG	0.269000												
UGT2A3	79799	broad.mit.edu	37	4	69817144	69817144	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:69817144T>A	uc003hef.2	-	1	366	c.335A>T	c.(334-336)GAT>GTT	p.D112V	UGT2A3_uc010ihp.1_RNA	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	112	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)|skin(1)	2						AACAAAAAAATCATTTAATTT	0.348000												
UGT2B7	7364	broad.mit.edu	37	4	69973972	69973972	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:69973972A>G	uc003heg.3	+	5	1288	c.1242A>G	c.(1240-1242)AGA>AGG	p.R414R	UGT2B7_uc010ihq.2_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2B7 precursor	414					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|skin(1)	2						CAGCTGTTAGAGTGGACTTCA	0.443000												
BMP2K	55589	broad.mit.edu	37	4	79754838	79754838	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:79754838C>T	uc003hlk.2	+	3	566	c.400C>T	c.(400-402)CGA>TGA	p.R134*	BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Nonsense_Mutation_p.R134*	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	134	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						GGAATATTGTCGAGGTAAGTA	0.333000												
BMP2K	55589	broad.mit.edu	37	4	79791998	79791998	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:79791998G>A	uc003hlk.2	+	11	1459	c.1293G>A	c.(1291-1293)CCG>CCA	p.P431P	BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Silent_p.P431P|BMP2K_uc003hll.2_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	431	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						CTCAGCAGCCGCCACAGCAGC	0.438000												
FGF5	2250	broad.mit.edu	37	4	81196160	81196160	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:81196160T>C	uc003hmd.2	+	2	690	c.453T>C	c.(451-453)CAT>CAC	p.H151H	FGF5_uc003hme.2_Intron	NM_004464	NP_004455	P12034	FGF5_HUMAN	fibroblast growth factor 5 isoform 1 precursor	151					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			ovary(1)|breast(1)	2						GAAAACTCCATGCAAGTGTAA	0.308000												
PRKG2	5593	broad.mit.edu	37	4	82090857	82090857	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:82090857C>A	uc003hmh.2	-	4	822	c.808G>T	c.(808-810)GCC>TCC	p.A270S	PRKG2_uc011cch.1_Missense_Mutation_p.A270S	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	270	cGMP 1.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						CTAGCTTGGGCTGTCCTCCTC	0.363000												
SPARCL1	8404	broad.mit.edu	37	4	88416218	88416218	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:88416218T>C	uc010ikm.2	-	4	688	c.116A>G	c.(115-117)AAC>AGC	p.N39S	SPARCL1_uc011cdc.1_Intron|SPARCL1_uc003hqs.3_Missense_Mutation_p.N39S|SPARCL1_uc011cdd.1_5'UTR|SPARCL1_uc003hqt.2_Missense_Mutation_p.N39S	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	39	O-glycosylated at two sites.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GATTGCAGTGTTGTCAGGTGC	0.373000												
HERC5	51191	broad.mit.edu	37	4	89425506	89425506	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:89425506C>T	uc003hrt.2	+	21	2859	c.2706C>T	c.(2704-2706)CCC>CCT	p.P902P	HERC5_uc011cdm.1_Silent_p.P540P	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	902	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)		TATTCCACCCCGAAGAACTGA	0.333000												
CYP2U1	113612	broad.mit.edu	37	4	108871407	108871407	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:108871407G>A	uc003hyp.2	+	5	1546	c.1463G>A	c.(1462-1464)CGG>CAG	p.R488Q	CYP2U1_uc011cfi.1_Missense_Mutation_p.R279Q	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U,	488					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TTAGGGAAGCGGGTGTGTATG	0.343000												
PLA2G12A	81579	broad.mit.edu	37	4	110635582	110635582	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:110635582C>T	uc003hzp.2	-	4	798	c.521G>A	c.(520-522)AGC>AAC	p.S174N	PLA2G12A_uc010img.2_Missense_Mutation_p.S172N	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA precursor	174					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity				0				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		GGCTCGTTGGCTGTCCAGATA	0.408000												
NDST3	9348	broad.mit.edu	37	4	119163208	119163208	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:119163208A>G	uc003ibx.2	+	12	2706	c.2303A>G	c.(2302-2304)GAT>GGT	p.D768G		NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	768	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						CTAATTATTGATGGGCAACAA	0.313000												
SLC25A31	83447	broad.mit.edu	37	4	128651810	128651810	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:128651810C>T	uc003ifl.2	+	1	256	c.110C>T	c.(109-111)GCG>GTG	p.A37V		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	37	Solcar 1.|Helical; Name=1; (Potential).				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0						TCCAAGACAGCGGTGGCGCCC	0.637000												
HSPA4L	22824	broad.mit.edu	37	4	128751951	128751951	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:128751951A>G	uc003ifm.2	+	18	2578	c.2325A>G	c.(2323-2325)TCA>TCG	p.S775S	HSPA4L_uc011cgr.1_Silent_p.S742S	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	775					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TAGCAAAGTCAAAGGTAAGAA	0.328000												
LARP1B	55132	broad.mit.edu	37	4	129121797	129121797	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:129121797G>T	uc003iga.2	+	17	2417	c.2286G>T	c.(2284-2286)TGG>TGT	p.W762C	LARP1B_uc003igc.2_Missense_Mutation_p.W181C|LARP1B_uc010ioa.1_RNA|LARP1B_uc003ige.2_RNA|LARP1B_uc003igd.2_RNA|LARP1B_uc003igf.2_5'UTR	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	762							RNA binding				0						AACTTGCTTGGGAAGATGCAA	0.343000												
ZNF330	27309	broad.mit.edu	37	4	142150795	142150795	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:142150795C>T	uc003iiq.3	+	6	582	c.362C>T	c.(361-363)GCC>GTC	p.A121V	ZNF330_uc011chl.1_Missense_Mutation_p.A61V	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	121						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding				0	all_hematologic(180;0.162)					CATGCTTGTGCCTGCCCTCTT	0.448000												
SMAD1	4086	broad.mit.edu	37	4	146436032	146436032	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:146436032C>T	uc003ikc.2	+	2	683	c.267C>T	c.(265-267)TGC>TGT	p.C89C	SMAD1_uc003ikd.2_Silent_p.C89C|SMAD1_uc010iov.2_Silent_p.C89C|SMAD1_uc011cic.1_Silent_p.C89C	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	89	MH1.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)					TCATTTACTGCCGTGTGTGGC	0.557000												
POU4F2	5458	broad.mit.edu	37	4	147561827	147561827	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:147561827T>G	uc003ikv.2	+	2	1345	c.1097T>G	c.(1096-1098)ATT>AGT	p.I366S		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	366	Homeobox.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)	1	all_hematologic(180;0.151)					TACTTTGCCATTCAGCCTCGG	0.582000												
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413000			Mis|N|D|F		colorectal|endometrial|T-ALL							
DCHS2	54798	broad.mit.edu	37	4	155254496	155254496	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:155254496C>T	uc003inw.2	-	9	1367	c.1367G>A	c.(1366-1368)GGC>GAC	p.G456D	DCHS2_uc003inx.2_Missense_Mutation_p.G955D	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	456	Cadherin 3.				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)		TGGGGCGCTGCCGAGCTGCGC	0.597000												
TLL1	7092	broad.mit.edu	37	4	166795140	166795140	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:166795140C>T	uc003irh.1	+	1	731	c.84C>T	c.(82-84)TGC>TGT	p.C28C	TLL1_uc011cjn.1_Silent_p.C28C|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	28					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TATGGGTCTGCGCTGGCCTCG	0.542000												
KIAA1430	57587	broad.mit.edu	37	4	186112159	186112159	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:186112159A>G	uc003ixf.3	-	2	339	c.192T>C	c.(190-192)CTT>CTC	p.L64L	KIAA1430_uc003ixg.2_Silent_p.L64L	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	hypothetical protein LOC57587	64											0		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CCTTCTCAGTAAGATAATTTT	0.358000												
SDHA	6389	broad.mit.edu	37	5	251215	251215	+	Missense_Mutation	SNP	C	C	T	rs9809219		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:251215C>T	uc003jao.3	+	12	1775	c.1660C>T	c.(1660-1662)CGG>TGG	p.R554W	SDHA_uc011clv.1_Missense_Mutation_p.R554W|SDHA_uc011clw.1_Missense_Mutation_p.R506W|SDHA_uc003jap.3_Intron|SDHA_uc003jaq.3_Missense_Mutation_p.R329W|SDHA_uc003jar.3_Missense_Mutation_p.R148W	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	554			R -> W (in LS).		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)	GACGTTCGACCGGGGTGAGCA	0.557000									Familial_Paragangliomas			
AHRR	57491	broad.mit.edu	37	5	353927	353927	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:353927A>G	uc003jav.2	+	3	201	c.157A>G	c.(157-159)AGC>GGC	p.S53G	AHRR_uc003jaw.2_Missense_Mutation_p.S49G|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Missense_Mutation_p.S49G	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	53	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCACCTGGCCAGCCTGCTGCC	0.632000												
ADAMTS16	170690	broad.mit.edu	37	5	5239278	5239278	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:5239278C>T	uc003jdl.2	+	15	2307	c.2169C>T	c.(2167-2169)GAC>GAT	p.D723D	ADAMTS16_uc003jdk.1_Silent_p.D723D|ADAMTS16_uc010itk.1_RNA	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	723	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TTGGATGTGACAATGTCCTTG	0.493000												
ADAMTS16	170690	broad.mit.edu	37	5	5303565	5303565	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:5303565G>A	uc003jdl.2	+	19	3112	c.2974G>A	c.(2974-2976)GCC>ACC	p.A992T	ADAMTS16_uc003jdk.1_Missense_Mutation_p.A992T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	992	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TGCATGGAGCGCCGGGCCCTG	0.662000												
SRD5A1	6715	broad.mit.edu	37	5	6652020	6652020	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:6652020C>T	uc003jdw.2	+	2	549	c.359C>T	c.(358-360)GCG>GTG	p.A120V	SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Intron	NM_001047	NP_001038	P18405	S5A1_HUMAN	steroid-5-alpha-reductase 1	120	Helical; (Potential).				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity				0					Dutasteride(DB01126)|Finasteride(DB01216)	TGTACAATGGCGATTATGTTC	0.418000												
FAM173B	134145	broad.mit.edu	37	5	10227606	10227606	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:10227606G>T	uc003jeo.2	-	5	678	c.649C>A	c.(649-651)CGT>AGT	p.R217S	FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.R200S	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	hypothetical protein LOC134145	217						integral to membrane				kidney(1)|central_nervous_system(1)	2						CTCTTTTCACGGCCTCTAAAA	0.488000												
DNAH5	1767	broad.mit.edu	37	5	13913929	13913929	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:13913929A>C	uc003jfd.2	-	11	1501	c.1459T>G	c.(1459-1461)TTT>GTT	p.F487V	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	487	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)					AGGGTTGTAAAGATGTCTATT	0.358000									Kartagener_syndrome			
CDH9	1007	broad.mit.edu	37	5	26906221	26906221	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:26906221C>T	uc003jgs.1	-	5	827	c.658G>A	c.(658-660)GCA>ACA	p.A220T	CDH9_uc010iug.2_Missense_Mutation_p.A220T	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	220	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TCTGGTAATGCAGTTTTTATT	0.393000												
PDZD2	23037	broad.mit.edu	37	5	31983467	31983467	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:31983467A>G	uc003jhl.2	+	3	1071	c.683A>G	c.(682-684)AAC>AGC	p.N228S	PDZD2_uc003jhm.2_Missense_Mutation_p.N228S|PDZD2_uc011cnx.1_Missense_Mutation_p.N54S	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	228					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CCTCCTGCCAACAAGGCCCCT	0.577000												
PDZD2	23037	broad.mit.edu	37	5	31995817	31995817	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:31995817G>A	uc003jhl.2	+	4	1502	c.1114G>A	c.(1114-1116)GCT>ACT	p.A372T	PDZD2_uc003jhm.2_Missense_Mutation_p.A372T|PDZD2_uc011cnx.1_Missense_Mutation_p.A198T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	372	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						AGGAGGTGCCGCTCACAGGTG	0.388000												
RXFP3	51289	broad.mit.edu	37	5	33937053	33937053	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:33937053G>A	uc003jic.1	+	1	565	c.208G>A	c.(208-210)GGG>AGG	p.G70R		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	70	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						GGGCAGCGGCGGGGCAGAGAG	0.697000												
NIPBL	25836	broad.mit.edu	37	5	37002815	37002815	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:37002815A>C	uc003jkl.3	+	15	4215	c.3716A>C	c.(3715-3717)AAT>ACT	p.N1239T	NIPBL_uc003jkk.3_Missense_Mutation_p.N1239T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1239					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)			CATCAGCTTAATGAACTTGGC	0.313000												
HEATR7B2	133558	broad.mit.edu	37	5	41018876	41018876	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:41018876G>A	uc003jmj.3	-	26	3080	c.2590C>T	c.(2590-2592)CGA>TGA	p.R864*	HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.R419*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	864							binding			ovary(6)|central_nervous_system(2)	8						TCCATGGATCGTTCATAGAGA	0.463000												
PLCXD3	345557	broad.mit.edu	37	5	41382280	41382280	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:41382280G>A	uc003jmm.1	-	2	562	c.460C>T	c.(460-462)CAC>TAC	p.H154Y		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	154	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						TTTTCATGGTGATATTTCTGC	0.413000												
NNT	23530	broad.mit.edu	37	5	43616017	43616017	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:43616017C>T	uc003joe.2	+	4	704	c.449C>T	c.(448-450)ACG>ATG	p.T150M	NNT_uc003jof.2_Missense_Mutation_p.T150M	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	150	Mitochondrial matrix.				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	ACATCAGGAACGCTGATTAGT	0.398000												
ITGA1	3672	broad.mit.edu	37	5	52218611	52218611	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:52218611A>G	uc003jou.2	+	18	2349	c.2297A>G	c.(2296-2298)AAG>AGG	p.K766R	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.K297R	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	766	Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTCTAGGACAAGCATGACTTT	0.408000												
HSPB3	8988	broad.mit.edu	37	5	53751959	53751959	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:53751959T>C	uc003jph.1	+	1	515	c.340T>C	c.(340-342)TTC>CTC	p.F114L		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	114					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus					0		Lung NSC(810;0.00104)				CTCAAGAAGCTTCACCCGACA	0.458000												
MAP3K1	4214	broad.mit.edu	37	5	56178223	56178223	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:56178223A>G	uc003jqw.3	+	14	3697	c.3196A>G	c.(3196-3198)ACC>GCC	p.T1066A		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	1066					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATCTAGACCTACCCCAGGTAA	0.443000												
CENPH	64946	broad.mit.edu	37	5	68490522	68490522	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:68490522C>T	uc003jvp.2	+	3	326	c.239C>T	c.(238-240)GCT>GTT	p.A80V	CENPH_uc010ixc.2_Missense_Mutation_p.A80V	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	centromere protein H	80	Potential.				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			large_intestine(1)	1		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		CAAATCGAAGCGTATGTTATA	0.179000												
BDP1	55814	broad.mit.edu	37	5	70754406	70754406	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:70754406T>C	uc003kbp.1	+	2	476	c.213T>C	c.(211-213)AGT>AGC	p.S71S	BDP1_uc003kbn.1_Silent_p.S71S|BDP1_uc003kbo.2_Silent_p.S71S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	71	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATTTCAACAGTACTGAAAAGA	0.373000												
ZNF366	167465	broad.mit.edu	37	5	71757157	71757157	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:71757157C>T	uc003kce.1	-	2	353	c.167G>A	c.(166-168)CGG>CAG	p.R56Q		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGGTTCATACCGAAACTGGGA	0.592000												
GFM2	84340	broad.mit.edu	37	5	74026203	74026203	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:74026203C>A	uc003kdh.1	-	17	1912	c.1608G>T	c.(1606-1608)GGG>GGT	p.G536G	GFM2_uc003kdi.1_Silent_p.G489G|GFM2_uc010izj.1_Silent_p.G568G|GFM2_uc010izk.1_Intron	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	536					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TATGTAACTCCCCCATACCAC	0.378000												
RASGRF2	5924	broad.mit.edu	37	5	80382721	80382721	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:80382721G>A	uc003kha.1	+	9	1339	c.1339G>A	c.(1339-1341)GTG>ATG	p.V447M	RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Missense_Mutation_p.V275M	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	447					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAGAATGATCGTGGAGGGCTG	0.507000												
VCAN	1462	broad.mit.edu	37	5	82817797	82817797	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:82817797G>T	uc003kii.3	+	7	4028	c.3672G>T	c.(3670-3672)AAG>AAT	p.K1224N	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.K1224N|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1224	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAGCATTCAAGCCATCTTCCG	0.423000												
SLCO4C1	353189	broad.mit.edu	37	5	101631731	101631731	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:101631731G>A	uc003knm.2	-	1	523	c.236C>T	c.(235-237)TCG>TTG	p.S79L		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	79	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)		CTCGGACAGCGACAGTGACCG	0.582000												
SLCO6A1	133482	broad.mit.edu	37	5	101815974	101815974	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:101815974C>T	uc003knn.2	-	2	695	c.523G>A	c.(523-525)GTA>ATA	p.V175I	SLCO6A1_uc003kno.2_Missense_Mutation_p.V175I|SLCO6A1_uc003knp.2_Missense_Mutation_p.V175I|SLCO6A1_uc003knq.2_Missense_Mutation_p.V175I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	175	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GAGGAAGCTACAAACCATATT	0.338000												
APC	324	broad.mit.edu	37	5	112103087	112103087	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:112103087G>T	uc010jby.2	+	4	802	c.422G>T	c.(421-423)AGG>ATG	p.R141M	APC_uc011cvt.1_Missense_Mutation_p.R151M|APC_uc003kpz.3_Missense_Mutation_p.R141M|APC_uc003kpy.3_Missense_Mutation_p.R141M|APC_uc010jbz.2_Translation_Start_Site	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	141	Leu-rich.|Potential.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R141fs*6(2)|p.R141S(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAGAAAGAGAGGTAACTTTTC	0.333000		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
YTHDC2	64848	broad.mit.edu	37	5	112860771	112860771	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:112860771A>G	uc003kqn.2	+	3	555	c.372A>G	c.(370-372)AAA>AAG	p.K124K	YTHDC2_uc010jce.1_Silent_p.K124K|YTHDC2_uc010jcf.1_Intron	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	124							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ATAATACAAAACATGCTGTTA	0.373000												
ZNF608	57507	broad.mit.edu	37	5	123984438	123984438	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:123984438A>G	uc003ktq.1	-	4	1762	c.1639T>C	c.(1639-1641)TGC>CGC	p.C547R	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.C547R|ZNF608_uc003ktt.1_Missense_Mutation_p.C547R	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	547						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGAGAAGAGCAGCCTTGGTCC	0.498000												
IL3	3562	broad.mit.edu	37	5	131398085	131398085	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:131398085C>T	uc003kwe.1	+	3	338	c.285C>T	c.(283-285)AGC>AGT	p.S95S		NM_000588	NP_000579	P08700	IL3_HUMAN	interleukin 3 precursor	95					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			ovary(2)|central_nervous_system(1)	3		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	CAATTGAGAGCATTCTTAAAG	0.517000												
VDAC1	7416	broad.mit.edu	37	5	133328691	133328691	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:133328691G>A	uc003kyp.1	-	2	112	c.13C>T	c.(13-15)CCC>TCC	p.P5S	VDAC1_uc003kyq.1_Missense_Mutation_p.P5S|VDAC1_uc003kyr.1_Missense_Mutation_p.P5S	NM_003374	NP_003365	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	5					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GCATACGTGGGTGGCACAGCC	0.428000												
TCF7	6932	broad.mit.edu	37	5	133473836	133473836	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:133473836G>A	uc003kyt.2	+	4	724	c.528G>A	c.(526-528)GCG>GCA	p.A176A	TCF7_uc003kyu.1_Silent_p.A61A|TCF7_uc003kyv.2_Silent_p.A61A|TCF7_uc003kyw.2_Silent_p.A61A|TCF7_uc003kyx.2_5'UTR|TCF7_uc003kyy.2_Silent_p.A61A|TCF7_uc003kyz.2_Silent_p.A61A|TCF7_uc003kza.2_Silent_p.A61A	NM_003202	NP_003193	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,	176					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)			CTGCACCTGCGGACATCAGCC	0.582000												
SAR1B	51128	broad.mit.edu	37	5	133948427	133948427	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:133948427A>G	uc003kzq.2	-	5	445	c.198T>C	c.(196-198)ATT>ATC	p.I66I	SAR1B_uc003kzr.2_Silent_p.I66I	NM_001033503	NP_001028675	Q9Y6B6	SAR1B_HUMAN	SAR1a gene homolog 2	66					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATGCCAGCAATGGTCAGTT	0.214000												
BRD8	10902	broad.mit.edu	37	5	137501568	137501568	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:137501568T>G	uc003lcf.1	-	11	1282	c.1227A>C	c.(1225-1227)GAA>GAC	p.E409D	BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.E188D|BRD8_uc003lcg.2_Missense_Mutation_p.E482D|BRD8_uc003lci.2_Missense_Mutation_p.E412D|BRD8_uc003lch.2_Missense_Mutation_p.E303D|BRD8_uc011cym.1_Missense_Mutation_p.E393D|BRD8_uc010jer.1_Missense_Mutation_p.E378D|BRD8_uc011cyn.1_Missense_Mutation_p.E368D	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	409					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AATCCAGCTCTTCACCTGTGT	0.468000												
PCDHA1	56147	broad.mit.edu	37	5	140168055	140168055	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140168055C>A	uc003lhb.2	+	1	2180	c.2180C>A	c.(2179-2181)CCC>CAC	p.P727H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.P727H	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	727	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTGCCGCCCACTGAGGGT	0.642000												
PCDHA3	56145	broad.mit.edu	37	5	140180869	140180869	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140180869C>T	uc003lhf.2	+	1	87	c.87C>T	c.(85-87)GGC>GGT	p.G29G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.G29G	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	29					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)			TGGGGAGCGGCCAGCTCCACT	0.642000												
PCDHA3	56145	broad.mit.edu	37	5	140182434	140182434	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140182434T>G	uc003lhf.2	+	1	1652	c.1652T>G	c.(1651-1653)CTG>CGG	p.L551R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.L551R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	551	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)			AACGTGACGCTGCAGGTGTTC	0.682000												
PCDHA7	56141	broad.mit.edu	37	5	140215070	140215070	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140215070G>A	uc003lhq.2	+	1	1102	c.1102G>A	c.(1102-1104)GTC>ATC	p.V368I	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.V368I	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	368	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)			ACCAGGTACCGTCATCACATT	0.507000												
PCDHA9	9752	broad.mit.edu	37	5	140230119	140230119	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140230119C>T	uc003lhu.2	+	1	2763	c.2039C>T	c.(2038-2040)TCG>TTG	p.S680L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.S680L	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	680	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTCATCGTCGCGGGCGTCA	0.652000												
PCDHA12	56137	broad.mit.edu	37	5	140256419	140256419	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140256419G>A	uc003lic.2	+	1	1489	c.1362G>A	c.(1360-1362)GCG>GCA	p.A454A	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_Silent_p.A454A	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	454	Cadherin 4.|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)			ATGCGCCTGCGTTCGCGCAGC	0.652000												
PCDHB6	56130	broad.mit.edu	37	5	140531448	140531448	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140531448C>G	uc003lir.2	+	1	1610	c.1610C>G	c.(1609-1611)CCG>CGG	p.P537R	PCDHB6_uc011dah.1_Missense_Mutation_p.P401R	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	537	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGGCTCCCCGGCGTTGAGC	0.672000												
PCDHB16	57717	broad.mit.edu	37	5	140563826	140563826	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140563826G>A	uc003liv.2	+	1	2847	c.1692G>A	c.(1690-1692)CCG>CCA	p.P564P		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	564	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGTACCCGCTGCAGAACG	0.721000												
PCDHB9	56127	broad.mit.edu	37	5	140568792	140568792	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140568792A>G	uc003liw.1	+	3	1901	c.1901A>G	c.(1900-1902)GAC>GGC	p.D634G		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	634	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGAGCGCGACGCAGCCAAG	0.682000												
PCDHGB2	56103	broad.mit.edu	37	5	140739886	140739886	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140739886C>T	uc003ljs.1	+	1	184	c.184C>T	c.(184-186)CCA>TCA	p.P62S	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_uc011dar.1_Missense_Mutation_p.P62S	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	62	Extracellular (Potential).|Cadherin 1.				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)			CCGGGACTTGCCAGCCCGGAA	0.537000												
PCDHGA7	56108	broad.mit.edu	37	5	140762928	140762928	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140762928A>G	uc003lka.1	+	1	462	c.462A>G	c.(460-462)TTA>TTG	p.L154L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.L154L	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	154	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTTCCGTTAAGCGAGGCTG	0.473000												
PCDHGB6	56100	broad.mit.edu	37	5	140789521	140789521	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140789521C>T	uc003lkj.1	+	1	1752	c.1752C>T	c.(1750-1752)CCC>CCT	p.P584P	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_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.P584P	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	584	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGAGCCCGGCTACCTAG	0.632000												
PCDHGB7	56099	broad.mit.edu	37	5	140798879	140798879	+	Missense_Mutation	SNP	G	G	A	rs35892780		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140798879G>A	uc003lkn.1	+	1	1598	c.1453G>A	c.(1453-1455)GGC>AGC	p.G485S	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_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.G485S|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	485	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCTCAACGGCCGTGTCTC	0.622000												
PCDHGA12	26025	broad.mit.edu	37	5	140811594	140811594	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:140811594C>T	uc003lkt.1	+	1	1437	c.1268C>T	c.(1267-1269)ACC>ATC	p.T423I	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_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.T423I	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	423	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACAGTGACCGCCACTGAC	0.507000												
STK32A	202374	broad.mit.edu	37	5	146619223	146619223	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:146619223C>G	uc010jgn.1	+	2	306	c.26C>G	c.(25-27)CCA>CGA	p.P9R	STK32A_uc003lol.3_Missense_Mutation_p.P9R|STK32A_uc003lom.2_Missense_Mutation_p.P9R|STK32A_uc011dbw.1_Missense_Mutation_p.P9R	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1	9							ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGAAAACCACCAGTGTTT	0.378000												
PDGFRB	5159	broad.mit.edu	37	5	149514442	149514442	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:149514442C>A	uc003lro.2	-	4	971	c.502G>T	c.(502-504)GCA>TCA	p.A168S	PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Missense_Mutation_p.A168S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	168	Extracellular (Potential).|Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACAGGCAGTGCAACGTCCCCT	0.498000			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML							
CD74	972	broad.mit.edu	37	5	149782828	149782828	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:149782828G>T	uc003lsc.2	-	7	684	c.673C>A	c.(673-675)CCG>ACG	p.P225T	CD74_uc003lsb.2_Intron|CD74_uc003lse.2_Intron|CD74_uc003lsd.2_Intron|CD74_uc003lsf.1_Missense_Mutation_p.P225T	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	CD74 antigen isoform a	225	Thyroglobulin type-1.|Extracellular (Potential).				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGAACCCGGGTGGACAGCA	0.577000			T	ROS1	NSCLC							
SYNPO	11346	broad.mit.edu	37	5	150029083	150029083	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:150029083G>A	uc003lsn.2	+	3	2352	c.1978G>A	c.(1978-1980)GTG>ATG	p.V660M	SYNPO_uc003lso.3_Missense_Mutation_p.V416M|SYNPO_uc003lsp.2_Missense_Mutation_p.V416M	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	660					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGGTAGGCGTGGAGGAGGA	0.667000												
SLC36A2	153201	broad.mit.edu	37	5	150723790	150723790	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:150723790A>C	uc003lty.2	-	2	333	c.203T>G	c.(202-204)ATG>AGG	p.M68R	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.M68R|SLC36A2_uc011dct.1_Missense_Mutation_p.M68R	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	68	Helical; (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTGTGCCCATGTTGCCTTT	0.552000												
FGF18	8817	broad.mit.edu	37	5	170863205	170863205	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:170863205C>T	uc003mbk.2	+	3	715	c.178C>T	c.(178-180)CGG>TGG	p.R60W		NM_003862	NP_003853	O76093	FGF18_HUMAN	fibroblast growth factor 18 precursor	60					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTCTACAGCCGGACCAGTGG	0.627000												
CPEB4	80315	broad.mit.edu	37	5	173380104	173380104	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:173380104G>A	uc003mcs.3	+	9	3197	c.1791G>A	c.(1789-1791)GCG>GCA	p.A597A	CPEB4_uc010jju.1_Silent_p.A572A|CPEB4_uc010jjv.2_Silent_p.A580A|CPEB4_uc011dfg.1_Silent_p.A572A|CPEB4_uc003mct.3_Silent_p.A207A|CPEB4_uc003mcu.3_Silent_p.A190A	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	597	RRM 2.						nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGGAGCTTGCGATGATAATGG	0.428000												
HRH2	3274	broad.mit.edu	37	5	175110384	175110384	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:175110384C>T	uc003mdd.2	+	1	1921	c.148C>T	c.(148-150)CGC>TGC	p.R50C	HRH2_uc003mdc.3_Missense_Mutation_p.R50C	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	50	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCGCCGGCTCCGCAACCTGAC	0.582000												
EIF4E1B	253314	broad.mit.edu	37	5	176070250	176070250	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:176070250G>A	uc010jkf.1	+	4	767	c.183G>A	c.(181-183)CTG>CTA	p.L61L		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	61					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGGAGCTGCACCCcttgc	0.328000												
MAML1	9794	broad.mit.edu	37	5	179193438	179193438	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:179193438G>A	uc003mkm.2	+	2	1690	c.1427G>A	c.(1426-1428)CGG>CAG	p.R476Q	MAML1_uc003mkn.1_Missense_Mutation_p.R476Q	NM_014757	NP_055572	Q92585	MAML1_HUMAN	mastermind-like 1	476					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			lung(4)|ovary(2)	6	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTTCCCCTCGGCCCGGAGGC	0.557000												
TRIM52	84851	broad.mit.edu	37	5	180687467	180687467	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:180687467G>A	uc003mnp.2	-	1	653	c.348C>T	c.(346-348)AAC>AAT	p.N116N	uc003mnq.2_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	tripartite motif-containing 52	116	Glu-rich.					intracellular	zinc ion binding				0	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		TATAGTCTACGTTGTCCCAAT	0.478000												
FARS2	10667	broad.mit.edu	37	6	5404836	5404836	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:5404836C>T	uc010jnv.1	+	3	1010	c.674C>T	c.(673-675)GCG>GTG	p.A225V	FARS2_uc003mwr.2_Missense_Mutation_p.A225V|FARS2_uc003mws.1_Missense_Mutation_p.A225V	NM_006567	NP_006558	O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2 precursor	225					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TCTCGCTCTGCGCATAAACAA	0.418000												
ERVFRDE1	405754	broad.mit.edu	37	6	11105335	11105335	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:11105335G>A	uc003mzt.2	-	2	579	c.209C>T	c.(208-210)GCG>GTG	p.A70V	LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron	NM_207582	NP_997465	P60508	EFRD1_HUMAN	syncytin 2	70	Extracellular (Potential).					integral to membrane|plasma membrane|virion					0						ATGTAATTCCGCCTCTATGCT	0.458000												
DCDC2	51473	broad.mit.edu	37	6	24357791	24357791	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:24357791C>T	uc003ndx.2	-	1	490	c.188G>A	c.(187-189)AGG>AAG	p.R63K	DCDC2_uc003ndy.2_Missense_Mutation_p.R63K|KAAG1_uc003ndz.1_5'UTR	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	63	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				GTAGATGTTCCTGACGGCCCC	0.617000												
HIST1H1D	3007	broad.mit.edu	37	6	26234786	26234786	+	Missense_Mutation	SNP	C	C	G	rs115924520	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:26234786C>G	uc003nhd.2	-	1	431	c.376G>C	c.(376-378)GCA>CCA	p.A126P		NM_005320	NP_005311	P16402	H13_HUMAN	histone cluster 1, H1d	126					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GGCTTGGCTGCGCCAGCCTTT	0.562000												
BTN1A1	696	broad.mit.edu	37	6	26502055	26502055	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:26502055G>A	uc003nif.3	+	2	337	c.317G>A	c.(316-318)CGC>CAC	p.R106H		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	106	Extracellular (Potential).|Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity	p.R106S(1)		ovary(1)|skin(1)	2						GCCAAGGGGCGCGTGGCCTTG	0.657000												
HIST1H2BN	8341	broad.mit.edu	37	6	27806590	27806590	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:27806590C>T	uc003njv.2	+	1	151	c.151C>T	c.(151-153)CCC>TCC	p.P51S	HIST1H2AK_uc003njs.2_5'Flank|HIST1H2BN_uc003njt.1_RNA|HIST1H2BN_uc003nju.1_Missense_Mutation_p.P51S	NM_003520	NP_003511	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	51					nucleosome assembly	nucleosome|nucleus	DNA binding				0						GCAGGTCCACCCCGACACCGG	0.597000												
ZSCAN16	80345	broad.mit.edu	37	6	28094637	28094637	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:28094637C>T	uc003nkm.2	+	3	564	c.464C>T	c.(463-465)ACT>ATT	p.T155I	uc010jqw.1_Intron|uc003nkk.1_Intron|uc003nkl.1_Intron|ZSCAN16_uc011dky.1_Missense_Mutation_p.T155I	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	155					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1						GAATCACTGACTGTCCAGCTC	0.507000												
ZKSCAN4	387032	broad.mit.edu	37	6	28213420	28213420	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:28213420G>A	uc003nks.1	-	5	1356	c.1112C>T	c.(1111-1113)ACT>ATT	p.T371I	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.T216I	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	371					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CTTCTCACCAGTGTGGACTCT	0.478000												
SCAND3	114821	broad.mit.edu	37	6	28554244	28554244	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:28554244T>C	uc003nlo.2	-	1	869	c.251A>G	c.(250-252)GAG>GGG	p.E84G	uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	84	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGTATGTATCTCTGGGTTCAG	0.567000												
GABBR1	2550	broad.mit.edu	37	6	29599375	29599375	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:29599375A>G	uc003nmt.3	-	3	423	c.87T>C	c.(85-87)GGT>GGC	p.G29G	GABBR1_uc003nmu.3_Silent_p.G29G|GABBR1_uc011dlr.1_5'UTR|GABBR1_uc011dls.1_Silent_p.G29G	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	29	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	TGATCTGGCAACCTAAGGGGT	0.597000												
VARS2	57176	broad.mit.edu	37	6	30889738	30889738	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:30889738T>C	uc003nsc.1	+	18	2404	c.1772T>C	c.(1771-1773)CTG>CCG	p.L591P	VARS2_uc011dmx.1_Missense_Mutation_p.L591P|VARS2_uc011dmy.1_Missense_Mutation_p.L451P|VARS2_uc011dmz.1_Missense_Mutation_p.L621P|VARS2_uc011dna.1_Missense_Mutation_p.L589P|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_Intron|VARS2_uc011dnd.1_Silent_p.P6P|VARS2_uc010jsg.1_Intron|VARS2_uc010jsh.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	591					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						TCTTCTGCCCTGTTCCCCTTT	0.547000												
VARS2	57176	broad.mit.edu	37	6	30890692	30890692	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:30890692C>T	uc003nsc.1	+	22	2756	c.2124C>T	c.(2122-2124)CAC>CAT	p.H708H	VARS2_uc011dmx.1_Silent_p.H708H|VARS2_uc011dmy.1_Silent_p.H568H|VARS2_uc011dmz.1_Silent_p.H738H|VARS2_uc011dna.1_Silent_p.H706H|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Silent_p.H146H|VARS2_uc010jsg.1_Silent_p.H80H|VARS2_uc010jsh.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	708					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						ACTTTCCTCACGGGATCCCTG	0.592000												
VARS	7407	broad.mit.edu	37	6	31750063	31750063	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:31750063G>A	uc003nxe.2	-	17	2572	c.2149C>T	c.(2149-2151)CGG>TGG	p.R717W	VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	717					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	CCTACACACCGGATGTTGTCC	0.667000												
RNF5	6048	broad.mit.edu	37	6	32147867	32147867	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:32147867G>A	uc003oaj.3	+	5	536	c.409G>A	c.(409-411)GTC>ATC	p.V137I	AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	ring finger protein 5	137	Helical; (Potential).				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						TTTCACCACCGTCTTCAATGC	0.557000												
HLA-DQA1	3117	broad.mit.edu	37	6	32609246	32609246	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:32609246A>G	uc003obr.2	+	2	295	c.242A>G	c.(241-243)GAC>GGC	p.D81G	HLA-DQA1_uc003obs.2_RNA|HLA-DQA1_uc003obt.1_Missense_Mutation_p.D81G|HLA-DQA1_uc003obu.2_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ	80	Alpha-1.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						GGAGGTTTTGACCCGCAGGGT	0.498000												
ITPR3	3710	broad.mit.edu	37	6	33652652	33652652	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:33652652G>A	uc011drk.1	+	39	5458	c.5239G>A	c.(5239-5241)GAG>AAG	p.E1747K	ITPR3_uc003oey.2_5'Flank	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1747	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						CACCAAGAACGAGAAGATCTT	0.632000												
UHRF1BP1	54887	broad.mit.edu	37	6	34825148	34825148	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:34825148C>T	uc003oju.3	+	12	1708	c.1474C>T	c.(1474-1476)CTT>TTT	p.L492F	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_5'Flank	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	492										ovary(3)	3						ATCTACACTCCTTTCCTGCAG	0.443000												
ZNF76	7629	broad.mit.edu	37	6	35258107	35258107	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:35258107G>A	uc003oki.1	+	6	702	c.497G>A	c.(496-498)CGC>CAC	p.R166H	ZNF76_uc011dsy.1_Missense_Mutation_p.R166H|ZNF76_uc011dsz.1_Missense_Mutation_p.R166H|ZNF76_uc003okj.1_Missense_Mutation_p.R166H	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	166	C2H2-type 1.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGAGCATTCCGCTGTGGCTAC	0.527000												
MAPK13	5603	broad.mit.edu	37	6	36106213	36106213	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:36106213G>A	uc003ols.2	+	9	852	c.754G>A	c.(754-756)GAC>AAC	p.D252N	MAPK13_uc003olt.2_Intron	NM_002754	NP_002745	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	252	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)	3						GAAGCTGAACGACAAAGCGGT	0.602000												
C6orf222	389384	broad.mit.edu	37	6	36298038	36298038	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:36298038G>T	uc003oly.2	-	2	608	c.430C>A	c.(430-432)CTC>ATC	p.L144I		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	144										skin(2)|ovary(1)|breast(1)	4						TTCTTCCTGAGGGCTGGCTCC	0.632000												
DNAH8	1769	broad.mit.edu	37	6	38903419	38903419	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:38903419C>T	uc003ooe.1	+	75	11458	c.10858C>T	c.(10858-10860)CGG>TGG	p.R3620W	DNAH8_uc003oog.1_Missense_Mutation_p.R69W|uc003oof.1_Intron	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TTTTAATAAGCGGAAGATGAA	0.308000												
TFEB	7942	broad.mit.edu	37	6	41657475	41657475	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:41657475G>T	uc003oqs.1	-	5	845	c.543C>A	c.(541-543)CCC>CCA	p.P181P	TFEB_uc003oqt.1_Silent_p.P181P|TFEB_uc003oqu.1_Silent_p.P195P|TFEB_uc003oqv.1_Silent_p.P181P|TFEB_uc010jxo.1_Silent_p.P181P|TFEB_uc003oqr.1_Silent_p.P96P	NM_007162	NP_009093	P19484	TFEB_HUMAN	transcription factor EB	181					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GTACCGTGTTGGGCATCTGCA	0.542000			T	ALPHA	renal (childhood epithelioid)							
TRERF1	55809	broad.mit.edu	37	6	42231171	42231171	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:42231171T>C	uc003osd.2	-	8	2334	c.1771A>G	c.(1771-1773)AAG>GAG	p.K591E	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.K591E	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	591	Pro-rich.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGAGAAGCTTGACAGGGACA	0.473000												
CUL9	23113	broad.mit.edu	37	6	43155673	43155673	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:43155673G>A	uc003ouk.2	+	7	1879	c.1804G>A	c.(1804-1806)GCC>ACC	p.A602T	CUL9_uc003ouj.1_Missense_Mutation_p.A492T|CUL9_uc003oul.2_Missense_Mutation_p.A602T|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Missense_Mutation_p.A60T	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	602					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						CAAGTCGGAGGCCAGCTTCTC	0.562000												
CUL9	23113	broad.mit.edu	37	6	43181594	43181594	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:43181594C>T	uc003ouk.2	+	29	5707	c.5632C>T	c.(5632-5634)CGT>TGT	p.R1878C	CUL9_uc003oul.2_Missense_Mutation_p.R1850C|CUL9_uc010jyk.2_Missense_Mutation_p.R1030C|CUL9_uc003oun.2_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1878					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TCTTCTTGTTCGTATTCTCAA	0.542000												
ABCC10	89845	broad.mit.edu	37	6	43415559	43415559	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:43415559C>T	uc003ouy.1	+	18	4058	c.3843C>T	c.(3841-3843)CGC>CGT	p.R1281R	ABCC10_uc003ouz.1_Silent_p.R1253R|ABCC10_uc010jyo.1_Silent_p.R387R	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1281	ABC transporter 2.|ATP 2 (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCGTGGGCCGCACAGGCTCCG	0.647000												
RUNX2	860	broad.mit.edu	37	6	45399611	45399611	+	Silent	SNP	C	C	T	rs147760046		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:45399611C>T	uc011dvx.1	+	4	645	c.435C>T	c.(433-435)CTC>CTT	p.L145L	RUNX2_uc011dvy.1_Silent_p.L145L|RUNX2_uc003oxt.2_Silent_p.L131L	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	145	Runt.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						TGGTAGCCCTCGGAGAGGTAC	0.433000												
TNFRSF21	27242	broad.mit.edu	37	6	47253992	47253992	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:47253992G>A	uc003oyv.2	-	2	869	c.436C>T	c.(436-438)CCC>TCC	p.P146S		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	146	Extracellular (Potential).|TNFR-Cys 3.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			ACCGTATGGGGGGCACAGGTA	0.547000												
GPR111	222611	broad.mit.edu	37	6	47650252	47650252	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:47650252G>A	uc010jzj.1	+	6	1958	c.1957G>A	c.(1957-1959)GCC>ACC	p.A653T	GPR111_uc010jzk.1_Missense_Mutation_p.A585T|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	653	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						CAAGAACATCGCCATCCTCAC	0.512000												
PKHD1	5314	broad.mit.edu	37	6	51897950	51897950	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:51897950C>T	uc003pah.1	-	29	3518	c.3242G>A	c.(3241-3243)CGC>CAC	p.R1081H	PKHD1_uc003pai.2_Missense_Mutation_p.R1081H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1081	IPT/TIG 5.|Extracellular (Potential).		R -> C (in a colorectal cancer sample; somatic mutation).		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.R1081C(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)					ATTCACAATGCGTCCATCTTT	0.363000												
PKHD1	5314	broad.mit.edu	37	6	51913367	51913367	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:51913367G>A	uc003pah.1	-	23	2606	c.2330C>T	c.(2329-2331)ACG>ATG	p.T777M	PKHD1_uc003pai.2_Missense_Mutation_p.T777M	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	777	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCTCTGTGTCGTCACCAGGAC	0.527000												
GCM1	8521	broad.mit.edu	37	6	52999038	52999038	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:52999038G>A	uc003pbp.2	-	3	369	c.160C>T	c.(160-162)CGG>TGG	p.R54W	GCM1_uc010jzr.2_Missense_Mutation_p.R54W	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	54	GCM.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)	1	Lung NSC(77;0.0755)					CTCAGGTGCCGCTGCGCATTC	0.547000												
PHF3	23469	broad.mit.edu	37	6	64423103	64423103	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:64423103A>G	uc003pep.1	+	15	5645	c.5619A>G	c.(5617-5619)TCA>TCG	p.S1873S	PHF3_uc003pen.2_Silent_p.S1785S|PHF3_uc011dxs.1_Silent_p.S1142S	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1873					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)			GTCCTCTCTCACAAGCATCAA	0.527000												
COL9A1	1297	broad.mit.edu	37	6	70942332	70942332	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:70942332C>T	uc003pfg.3	-	36	2616	c.2457G>A	c.(2455-2457)CCG>CCA	p.P819P	COL9A1_uc003pfe.3_Silent_p.P368P|COL9A1_uc003pff.3_Silent_p.P576P	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	819	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CCTTAATGCCCGGAAGGCCAC	0.572000												
COL12A1	1303	broad.mit.edu	37	6	75843658	75843658	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:75843658C>A	uc003phs.2	-	33	5746	c.5580G>T	c.(5578-5580)TTG>TTT	p.L1860F	COL12A1_uc003pht.2_Missense_Mutation_p.L696F	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1860	Fibronectin type-III 14.				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						AGCGGACATTCAAGGTGCTGG	0.453000												
PHIP	55023	broad.mit.edu	37	6	79655834	79655834	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:79655834C>T	uc003pir.2	-	38	4740	c.4514G>A	c.(4513-4515)CGA>CAA	p.R1505Q	PHIP_uc003piq.2_Missense_Mutation_p.R529Q|PHIP_uc011dyp.1_Missense_Mutation_p.R1504Q|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.R391Q	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1505					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GCTTCTGGTTCGAACCACAGA	0.433000												
PHIP	55023	broad.mit.edu	37	6	79770253	79770253	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:79770253C>T	uc003pir.2	-	6	607	c.381G>A	c.(379-381)GCG>GCA	p.A127A	PHIP_uc011dyp.1_Silent_p.A127A	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	127					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CACAGTGCAACGCAGCCAGAG	0.413000												
IBTK	25998	broad.mit.edu	37	6	82949974	82949974	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:82949974T>A	uc003pjl.1	-	2	757	c.230A>T	c.(229-231)GAT>GTT	p.D77V	IBTK_uc011dyv.1_Missense_Mutation_p.D77V|IBTK_uc011dyw.1_Missense_Mutation_p.D77V|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.D77V	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	77	ANK 1.				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CACCAACAGATCCACTCCTTT	0.418000												
IBTK	25998	broad.mit.edu	37	6	82950191	82950191	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:82950191T>C	uc003pjl.1	-	2	540	c.13A>G	c.(13-15)ATG>GTG	p.M5V	IBTK_uc011dyv.1_Missense_Mutation_p.M5V|IBTK_uc011dyw.1_Missense_Mutation_p.M5V|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.M5V	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	5					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CAGTCAGGCATGGGTGAACTC	0.413000												
PGM3	5238	broad.mit.edu	37	6	83884156	83884156	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:83884156T>A	uc003pjv.2	-	10	1219	c.1179A>T	c.(1177-1179)CAA>CAT	p.Q393H	PGM3_uc003pjw.2_Missense_Mutation_p.Q312H|PGM3_uc011dyz.1_Missense_Mutation_p.Q421H	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	393					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		TATCTTCCAGTTGTTCTGCTG	0.373000												
TBX18	9096	broad.mit.edu	37	6	85472393	85472393	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:85472393C>T	uc003pkl.1	-	2	366	c.366G>A	c.(364-366)CCG>CCA	p.P122P	TBX18_uc010kbq.1_5'UTR	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	122					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P122L(1)		ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGGAGCGCGCCGGAGACCCCT	0.697000												
RARS2	57038	broad.mit.edu	37	6	88239291	88239291	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:88239291G>A	uc003pme.2	-	10	907	c.847C>T	c.(847-849)CTG>TTG	p.L283L	RARS2_uc003pmb.2_Silent_p.L108L|RARS2_uc003pmc.2_Silent_p.L108L|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	283					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TTACTCTCCAGCAACTTTAAG	0.313000												
GABRR1	2569	broad.mit.edu	37	6	89890064	89890064	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:89890064C>T	uc003pna.2	-	9	1548	c.1093G>A	c.(1093-1095)GTC>ATC	p.V365I	GABRR1_uc011dzv.1_Missense_Mutation_p.V342I	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	365	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGGTAGTTGACGGCCGCATAC	0.557000												
EPHA7	2045	broad.mit.edu	37	6	94068094	94068094	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:94068094C>A	uc003poe.2	-	4	1109	c.868G>T	c.(868-870)GAT>TAT	p.D290Y	EPHA7_uc003pof.2_Missense_Mutation_p.D290Y|EPHA7_uc011eac.1_Missense_Mutation_p.D290Y	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	290	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CACTGAAGATCTTGAGAGGAA	0.428000												
POPDC3	64208	broad.mit.edu	37	6	105609533	105609533	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:105609533C>T	uc003prb.2	-	2	654	c.252G>A	c.(250-252)CTG>CTA	p.L84L	uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	84	Helical; (Potential).					integral to membrane				skin(3)|ovary(2)	5		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				AGATGACAAACAGTACAAAAT	0.433000												
AIM1	202	broad.mit.edu	37	6	106967902	106967902	+	Missense_Mutation	SNP	G	G	A	rs139571922	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:106967902G>A	uc003prh.2	+	2	2082	c.1595G>A	c.(1594-1596)CGT>CAT	p.R532H		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	532							sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCCACAGAGCGTAGTCCAGAA	0.522000												
BEND3	57673	broad.mit.edu	37	6	107390480	107390480	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:107390480G>A	uc003prs.2	-	5	2565	c.1915C>T	c.(1915-1917)CTG>TTG	p.L639L		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	639	BEN 3.									ovary(3)	3						CGCTCATCCAGTTTGCCCACG	0.657000												
BEND3	57673	broad.mit.edu	37	6	107390687	107390687	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:107390687T>C	uc003prs.2	-	5	2358	c.1708A>G	c.(1708-1710)ATC>GTC	p.I570V		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	570	BEN 3.									ovary(3)	3						AAGTTGCCGATGGACAGGCTG	0.627000												
MICAL1	64780	broad.mit.edu	37	6	109786988	109786988	+	Translation_Start_Site	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:109786988G>A	uc011eaq.1	-	1	184	c.-107C>T	c.(-109--105)AACGC>AATGC		ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_3'UTR|ZBTB24_uc003ptl.1_3'UTR|ZBTB24_uc010kdt.1_RNA	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin						cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GATTTCAAGCGTTCAAAATCC	0.493000												
SLC16A10	117247	broad.mit.edu	37	6	111527861	111527861	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:111527861G>A	uc003pus.2	+	4	1184	c.1009G>A	c.(1009-1011)GTC>ATC	p.V337I	SLC16A10_uc003put.2_Missense_Mutation_p.V23I	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	solute carrier family 16, member 10	337	Helical; (Potential).				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity				0		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GTGCATTGGCGTCACTTCAGG	0.388000												
REV3L	5980	broad.mit.edu	37	6	111695520	111695520	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:111695520A>G	uc003puy.3	-	13	4361	c.4038T>C	c.(4036-4038)TTT>TTC	p.F1346F	REV3L_uc003pux.3_Silent_p.F1268F|REV3L_uc003puz.3_Silent_p.F1268F	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1346					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)		CCTTTAGAGTAAACATAGCAC	0.338000								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
DSE	29940	broad.mit.edu	37	6	116758028	116758028	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:116758028A>G	uc003pws.2	+	6	2591	c.2397A>G	c.(2395-2397)CAA>CAG	p.Q799Q	DSE_uc011ebg.1_Silent_p.Q818Q|DSE_uc003pwt.2_Silent_p.Q799Q|DSE_uc003pwu.2_Silent_p.Q466Q	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	799					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TATCACAGCAACAGCAGCAGC	0.443000												
RFX6	222546	broad.mit.edu	37	6	117198978	117198978	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:117198978T>C	uc003pxm.2	+	2	306	c.243T>C	c.(241-243)GGT>GGC	p.G81G		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	81					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						TAAACAATGGTAACTTTTCCT	0.393000												
TRDN	10345	broad.mit.edu	37	6	123673709	123673709	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:123673709C>A	uc003pzj.1	-	21	1366	c.1344G>T	c.(1342-1344)GAG>GAT	p.E448D	TRDN_uc003pzk.1_Missense_Mutation_p.E449D|TRDN_uc003pzl.1_Missense_Mutation_p.E449D|TRDN_uc010kem.1_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	448	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		TGGTTGTTTTCTCTTCCTTCT	0.378000												
HEY2	23493	broad.mit.edu	37	6	126080753	126080753	+	Silent	SNP	G	G	A	rs34745209	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:126080753G>A	uc003qad.2	+	5	1010	c.819G>A	c.(817-819)GCG>GCA	p.A273A	HEY2_uc011ebr.1_Silent_p.A227A	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	273	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CAGCCACCGCGGCTGCACACA	0.697000												
C6orf174	387104	broad.mit.edu	37	6	127796641	127796641	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:127796641G>A	uc003qbd.2	-	6	3395	c.2530C>T	c.(2530-2532)CGC>TGC	p.R844C	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	844						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		ACGTAGATGCGCGCCTCGGTG	0.652000												
AKAP7	9465	broad.mit.edu	37	6	131486329	131486329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:131486329C>T	uc003qck.2	+	4	433	c.400C>T	c.(400-402)CAA>TAA	p.Q134*	AKAP7_uc011ebz.1_Nonsense_Mutation_p.Q112*|AKAP7_uc003qcl.1_Nonsense_Mutation_p.Q15*	NM_016377	NP_057461	O43687	AKA7A_HUMAN	A-kinase anchor protein 7 isoform gamma	Error:Variant_position_missing_in_O43687_after_alignment					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			ovary(2)	2	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GCTGGTGATGCAATTATTAAA	0.343000												
TAAR6	319100	broad.mit.edu	37	6	132891923	132891923	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:132891923G>A	uc011eck.1	+	1	463	c.463G>A	c.(463-465)GTG>ATG	p.V155M		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	155	Helical; Name=4; (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(1)	3	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TTGCATCAGCGTGTCCTGGAT	0.502000												
SLC2A12	154091	broad.mit.edu	37	6	134349987	134349987	+	Missense_Mutation	SNP	C	C	T	rs151202816		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:134349987C>T	uc003qem.1	-	2	1147	c.976G>A	c.(976-978)GTC>ATC	p.V326I		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	326	Helical; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		ATGACCTTGACGACTCCAACC	0.493000												
AHI1	54806	broad.mit.edu	37	6	135787084	135787084	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:135787084C>A	uc003qgi.2	-	7	1001	c.617G>T	c.(616-618)AGG>ATG	p.R206M	AHI1_uc003qgh.2_Missense_Mutation_p.R206M|AHI1_uc003qgj.2_Missense_Mutation_p.R206M|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.R206M	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	206						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)		TCTTATTTTCCTCTTAATCTC	0.353000												
GPR126	57211	broad.mit.edu	37	6	142691311	142691311	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:142691311C>T	uc010khc.2	+	4	861	c.450C>T	c.(448-450)GCC>GCT	p.A150A	GPR126_uc010khd.2_Silent_p.A150A|GPR126_uc010khe.2_Silent_p.A150A|GPR126_uc010khf.2_Silent_p.A150A|GPR126_uc003qix.2_Silent_p.A150A	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	150	Pentaxin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCCTAGTTGCCGTGTCCTTAA	0.403000												
PHACTR2	9749	broad.mit.edu	37	6	144093509	144093509	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:144093509C>T	uc003qjq.3	+	7	1444	c.1314C>T	c.(1312-1314)TAC>TAT	p.Y438Y	PHACTR2_uc010khh.2_Silent_p.Y358Y|PHACTR2_uc010khi.2_Silent_p.Y449Y|PHACTR2_uc003qjr.3_Silent_p.Y369Y	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	438							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		ACAGGGAATACCAAGCCAATG	0.512000												
LTV1	84946	broad.mit.edu	37	6	144183260	144183260	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:144183260C>A	uc003qjs.2	+	8	1050	c.943C>A	c.(943-945)CTT>ATT	p.L315I	LTV1_uc003qju.1_Missense_Mutation_p.L100I|C6orf94_uc010khj.2_Intron|C6orf94_uc010khk.2_5'Flank|C6orf94_uc011edy.1_5'Flank	NM_032860	NP_116249	Q96GA3	LTV1_HUMAN	LTV1 homolog	315										ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		ATTGAATACCCTTGAACCCTT	0.378000												
SHPRH	257218	broad.mit.edu	37	6	146266640	146266640	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:146266640C>T	uc003qlf.2	-	8	1854	c.1455G>A	c.(1453-1455)CGG>CGA	p.R485R	SHPRH_uc003qld.2_Silent_p.R485R|SHPRH_uc003qle.2_Silent_p.R485R|SHPRH_uc003qlg.1_Silent_p.R41R|SHPRH_uc003qlj.1_Silent_p.R374R	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	485	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATTTCAGCATCCGTTTCAAAA	0.358000												
LATS1	9113	broad.mit.edu	37	6	150004580	150004580	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:150004580C>A	uc003qmu.1	-	4	2193	c.1645G>T	c.(1645-1647)GCT>TCT	p.A549S	LATS1_uc010kif.1_Missense_Mutation_p.A444S|LATS1_uc003qmv.1_Missense_Mutation_p.A549S|LATS1_uc003qmw.2_Missense_Mutation_p.A549S|LATS1_uc010kig.1_Missense_Mutation_p.A444S	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	549	Interaction with YAP1.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TAGTTTGGAGCTTCAGCAACA	0.483000												
PLEKHG1	57480	broad.mit.edu	37	6	151151939	151151939	+	Silent	SNP	G	G	A	rs141197193	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:151151939G>A	uc003qny.1	+	16	2004	c.1692G>A	c.(1690-1692)CCG>CCA	p.P564P	PLEKHG1_uc011eel.1_Silent_p.P604P|PLEKHG1_uc011eem.1_Silent_p.P623P|PLEKHG1_uc003qnz.2_Silent_p.P564P	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	564					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)		TGTTCGTGCCGTCATTTTCCT	0.507000												
ZBTB2	57621	broad.mit.edu	37	6	151687420	151687420	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:151687420G>A	uc003qoh.2	-	3	916	c.781C>T	c.(781-783)CGG>TGG	p.R261W		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	261	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GTGAAGCGCCGTCCACACAGG	0.557000												
SYNE1	23345	broad.mit.edu	37	6	152453304	152453304	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:152453304A>G	uc010kiw.2	-	144	26649	c.26047T>C	c.(26047-26049)TCT>CCT	p.S8683P	SYNE1_uc010kiv.2_Missense_Mutation_p.S3207P|SYNE1_uc003qos.3_Missense_Mutation_p.S3207P|SYNE1_uc003qot.3_Missense_Mutation_p.S8635P|SYNE1_uc003qou.3_Missense_Mutation_p.S8683P|SYNE1_uc003qop.3_Missense_Mutation_p.S868P|SYNE1_uc011eez.1_Missense_Mutation_p.S885P|SYNE1_uc003qoq.3_Missense_Mutation_p.S885P|SYNE1_uc003qor.3_Missense_Mutation_p.S1606P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8683	Ser-rich.|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)		GGACTCACAGACCCTGAGGTG	0.512000										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152737700	152737700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:152737700C>A	uc010kiw.2	-	41	6474	c.5872G>T	c.(5872-5874)GAG>TAG	p.E1958*	SYNE1_uc003qot.3_Nonsense_Mutation_p.E1965*|SYNE1_uc003qou.3_Nonsense_Mutation_p.E1958*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.E1941*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1958	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)		CTCTCTACCTCTCCACAGAGC	0.507000										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152783944	152783944	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:152783944C>T	uc010kiw.2	-	20	2781	c.2179G>A	c.(2179-2181)GCC>ACC	p.A727T	SYNE1_uc003qot.3_Missense_Mutation_p.A734T|SYNE1_uc003qou.3_Missense_Mutation_p.A727T|SYNE1_uc010kjb.1_Missense_Mutation_p.A710T|SYNE1_uc003qpa.1_Missense_Mutation_p.A727T|SYNE1_uc003qow.2_Missense_Mutation_p.A22T|SYNE1_uc003qox.1_Missense_Mutation_p.A243T|SYNE1_uc003qoz.2_Missense_Mutation_p.A159T|SYNE1_uc003qoy.2_Missense_Mutation_p.A294T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	727	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)		TTCTTATGGGCTTCCGTTGCA	0.403000										HNSCC(10;0.0054)		
TIAM2	26230	broad.mit.edu	37	6	155574159	155574159	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:155574159G>A	uc003qqb.2	+	26	5470	c.4197G>A	c.(4195-4197)GCG>GCA	p.A1399A	TIAM2_uc003qqe.2_Silent_p.A1399A|TIAM2_uc010kjj.2_Silent_p.A961A|TIAM2_uc003qqf.2_Silent_p.A775A|TIAM2_uc011efl.1_Silent_p.A735A|TIAM2_uc003qqg.2_Silent_p.A711A|TIAM2_uc003qqh.2_Silent_p.A324A	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1399	PH 2.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCATCTCCGCGCTTCAAGTCA	0.438000												
SYNJ2	8871	broad.mit.edu	37	6	158492692	158492692	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:158492692G>A	uc003qqx.1	+	15	2074	c.1999G>A	c.(1999-2001)GCC>ACC	p.A667T	SYNJ2_uc003qqw.1_Missense_Mutation_p.A667T|SYNJ2_uc003qqy.1_Missense_Mutation_p.A380T|SYNJ2_uc003qqz.1_Missense_Mutation_p.A284T|SYNJ2_uc003qra.1_Missense_Mutation_p.A10T	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	667	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GAACAAGGGCGCCGTCGGCAT	0.607000												
PACRG	135138	broad.mit.edu	37	6	163510322	163510322	+	Silent	SNP	C	C	T	rs150756193	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:163510322C>T	uc003qua.2	+	5	719	c.495C>T	c.(493-495)ATC>ATT	p.I165I	PACRG_uc003qub.2_Silent_p.I165I|PACRG_uc003quc.2_Silent_p.I165I	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	parkin co-regulated gene protein isoform 1	165											0		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GACAGGTCATCTGTGTCACTC	0.463000												
DLL1	28514	broad.mit.edu	37	6	170592537	170592537	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:170592537C>T	uc003qxm.2	-	9	2300	c.1830G>A	c.(1828-1830)ACG>ACA	p.T610T		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	610	Cytoplasmic (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TCTTGATCTGCGTGGCCCCGA	0.622000												
INTS1	26173	broad.mit.edu	37	7	1539187	1539187	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:1539187C>T	uc003skn.2	-	6	867	c.766G>A	c.(766-768)GCC>ACC	p.A256T	INTS1_uc003skq.2_Missense_Mutation_p.A256T	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	256					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)		GTGTTGAAGGCCGTCTGGATG	0.652000												
FBXL18	80028	broad.mit.edu	37	7	5545127	5545127	+	Silent	SNP	G	G	A	rs145119070	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:5545127G>A	uc003soo.2	-	2	247	c.153C>T	c.(151-153)AAC>AAT	p.N51N	FBXL18_uc003son.3_Silent_p.N51N	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	51	F-box.									central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TACGCCGGACGTTCAGAATCA	0.587000												
RAC1	5879	broad.mit.edu	37	7	6442041	6442041	+	Silent	SNP	C	C	T	rs144238799	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:6442041C>T	uc003spx.2	+	6	784	c.543C>T	c.(541-543)CCC>CCT	p.P181P	RAC1_uc003spw.2_Silent_p.P200P	NM_006908	NP_008839	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1	181					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			lung(2)	2		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GCCCGCCTCCCGTGAAGAAGA	0.522000												
HOXA6	3203	broad.mit.edu	37	7	27185513	27185513	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:27185513G>A	uc003syo.1	-	2	466	c.466C>T	c.(466-468)CGC>TGC	p.R156C	HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	156	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						CGGCCTCGGCGCCCATGGCTC	0.657000												
ZNRF2	223082	broad.mit.edu	37	7	30363339	30363339	+	Missense_Mutation	SNP	G	G	A	rs142290977		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:30363339G>A	uc003tat.2	+	2	1602	c.551G>A	c.(550-552)CGA>CAA	p.R184Q		NM_147128	NP_667339	Q8NHG8	ZNRF2_HUMAN	zinc finger/RING finger 2	184						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding				0						ACAAAGCCACGAATAACCTAT	0.269000												
AOAH	313	broad.mit.edu	37	7	36763673	36763673	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:36763673G>A	uc003tfh.3	-	1	482	c.81C>T	c.(79-81)AAC>AAT	p.N27N	AOAH_uc010kxf.2_Silent_p.N27N|AOAH_uc011kba.1_Silent_p.N27N	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	27					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						ACTGGTCATCGTTGGCTGGAG	0.502000												
TXNDC3	51314	broad.mit.edu	37	7	37896881	37896881	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:37896881A>G	uc003tfn.2	+	6	576	c.204A>G	c.(202-204)GAA>GAG	p.E68E		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	68	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						TCCAGGCAGAAGCTGACAACA	0.274000									Kartagener_syndrome			
HECW1	23072	broad.mit.edu	37	7	43484813	43484813	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:43484813C>T	uc003tid.1	+	11	2647	c.2042C>T	c.(2041-2043)TCG>TTG	p.S681L	HECW1_uc011kbi.1_Missense_Mutation_p.S681L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	681	Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						TGCAGCCCCTCGTGCTACAGC	0.672000												
TNS3	64759	broad.mit.edu	37	7	47408471	47408471	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:47408471C>A	uc003tnv.2	-	17	2139	c.1772G>T	c.(1771-1773)CGC>CTC	p.R591L	TNS3_uc003tnw.2_Missense_Mutation_p.R591L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	591						focal adhesion	protein binding			ovary(4)	4						CTGCTGCTGGCGCACCCAGGT	0.647000												
VWC2	375567	broad.mit.edu	37	7	49842417	49842417	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:49842417C>T	uc003tot.1	+	3	1363	c.807C>T	c.(805-807)TGC>TGT	p.C269C		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	269	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0						CTGATCAGTGCTGTCCCATCT	0.582000												
AUTS2	26053	broad.mit.edu	37	7	70254989	70254989	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:70254989G>A	uc003tvw.3	+	19	3530	c.2787G>A	c.(2785-2787)GCG>GCA	p.A929A	AUTS2_uc003tvx.3_Silent_p.A905A|AUTS2_uc011keg.1_Silent_p.A381A	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	929										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCGCGCCGCGGGCGAAGAGG	0.726000												
WBSCR17	64409	broad.mit.edu	37	7	70597984	70597984	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:70597984C>T	uc003tvy.2	+	1	196	c.196C>T	c.(196-198)CGC>TGC	p.R66C		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	66	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGTCCTGAAGCGCCTGTCGCT	0.721000												
POM121	9883	broad.mit.edu	37	7	72412620	72412620	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:72412620G>A	uc003twk.2	+	11	2088	c.2088G>A	c.(2086-2088)CCG>CCA	p.P696P	POM121_uc003twj.2_Silent_p.P431P|POM121_uc010lam.1_Silent_p.P431P	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	696	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				CATCTGCCCCGTCCCCCGCCC	0.607000												
FKBP6	8468	broad.mit.edu	37	7	72756821	72756821	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:72756821A>G	uc003tya.2	+	8	1040	c.908A>G	c.(907-909)TAT>TGT	p.Y303C	FKBP6_uc003twz.2_Missense_Mutation_p.Y273C|FKBP6_uc011kew.1_Missense_Mutation_p.Y298C	NM_003602	NP_003593	O75344	FKBP6_HUMAN	FK506 binding protein 6 isoform a	303					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				TACAGGGACTATGTGGATAAA	0.512000											OREG0018106	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
WBSCR27	155368	broad.mit.edu	37	7	73254783	73254783	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:73254783G>T	uc003tzj.2	-	4	389	c.349C>A	c.(349-351)CTC>ATC	p.L117I	RFC2_uc011kfa.1_Intron|WBSCR27_uc011kfd.1_Intron	NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Williams-Beuren syndrome chromosome region 27	117										central_nervous_system(1)	1		Lung NSC(55;0.159)				AGGGTGCAGAGGCTGAGGCGC	0.677000												
CLIP2	7461	broad.mit.edu	37	7	73770775	73770775	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:73770775C>T	uc003uam.2	+	5	1166	c.839C>T	c.(838-840)GCG>GTG	p.A280V	CLIP2_uc003uan.2_Missense_Mutation_p.A280V	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	280	CAP-Gly 2.					microtubule associated complex				skin(3)	3						GGTCTCTTCGCGCCCATCCAC	0.597000												
ABCB1	5243	broad.mit.edu	37	7	87183124	87183124	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:87183124T>C	uc003uiz.1	-	10	1370	c.952A>G	c.(952-954)ACC>GCC	p.T318A	ABCB1_uc011khc.1_Missense_Mutation_p.T254A	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	318	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ACCAAGGTGGTCCCATACCAG	0.383000												
ADAM22	53616	broad.mit.edu	37	7	87737537	87737537	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:87737537A>G	uc003ujn.2	+	5	516	c.437A>G	c.(436-438)GAC>GGC	p.D146G	ADAM22_uc003uji.1_Missense_Mutation_p.D145G|ADAM22_uc003ujj.1_Missense_Mutation_p.D146G|ADAM22_uc003ujk.1_Missense_Mutation_p.D146G|ADAM22_uc003ujl.1_Missense_Mutation_p.D146G|ADAM22_uc003ujm.2_Missense_Mutation_p.D146G|ADAM22_uc003ujo.2_Missense_Mutation_p.D146G|ADAM22_uc003ujp.1_Missense_Mutation_p.D198G	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	146					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GGAAACCCTGACTCATTTGTT	0.363000												
ZNF804B	219578	broad.mit.edu	37	7	88965927	88965927	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:88965927C>A	uc011khi.1	+	4	4169	c.3631C>A	c.(3631-3633)CAC>AAC	p.H1211N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1211						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CACCATCCACCACACGTTCCT	0.502000										HNSCC(36;0.09)		
COL1A2	1278	broad.mit.edu	37	7	94055071	94055071	+	Missense_Mutation	SNP	G	G	A	rs72659312		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:94055071G>A	uc003ung.1	+	44	3316	c.2845G>A	c.(2845-2847)GGT>AGT	p.G949S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	949			G -> S (in OI3; moderate).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGAGAGCGCGGTTACCCTGG	0.488000										HNSCC(75;0.22)		
MCM7	4176	broad.mit.edu	37	7	99695360	99695360	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:99695360A>C	uc003usw.1	-	9	1504	c.994T>G	c.(994-996)TTC>GTC	p.F332V	MCM7_uc003usv.1_Missense_Mutation_p.F156V|MCM7_uc003usx.1_Missense_Mutation_p.F156V	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	332	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TTTTCGTAGAAATCCTCCTCT	0.507000												
FBXO24	26261	broad.mit.edu	37	7	100192820	100192820	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:100192820C>T	uc003uvm.1	+	7	1341	c.1048C>T	c.(1048-1050)CCG>TCG	p.P350S	FBXO24_uc003uvl.1_Intron|FBXO24_uc003uvn.1_Missense_Mutation_p.P45S|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.P388S|FBXO24_uc011kka.1_Missense_Mutation_p.P338S	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	350						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGCAGATGCCGCTTGCTCT	0.582000												
MUC17	140453	broad.mit.edu	37	7	100680596	100680596	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:100680596C>T	uc003uxp.1	+	3	5952	c.5899C>T	c.(5899-5901)CCT>TCT	p.P1967S	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1967	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|31.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACAACTGC	0.502000												
MUC17	140453	broad.mit.edu	37	7	100680955	100680955	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:100680955C>T	uc003uxp.1	+	3	6311	c.6258C>T	c.(6256-6258)ACC>ACT	p.T2086T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2086	Extracellular (Potential).|33.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CATCTGCAACCGCTGAAGGTA	0.502000												
ALKBH4	54784	broad.mit.edu	37	7	102098296	102098296	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:102098296C>T	uc003uzl.2	-	3	459	c.454G>A	c.(454-456)GAG>AAG	p.E152K	ALKBH4_uc003uzm.2_Missense_Mutation_p.E79K	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4	152						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TTGCACTGCTCGACGGGCCGG	0.692000												
LRRC17	10234	broad.mit.edu	37	7	102584826	102584826	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:102584826G>A	uc003vau.2	+	4	1487	c.1098G>A	c.(1096-1098)AAG>AAA	p.K366K	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_3'UTR	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	366	LRRCT 2.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1						ACTGGTTAAAGCACCACTACA	0.378000												
SRPK2	6733	broad.mit.edu	37	7	104787044	104787044	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:104787044G>A	uc003vct.2	-	7	837	c.650C>T	c.(649-651)CCG>CTG	p.P217L	SRPK2_uc003vcu.2_Missense_Mutation_p.P217L|SRPK2_uc003vcv.2_Missense_Mutation_p.P228L|SRPK2_uc003vcw.1_Missense_Mutation_p.P217L	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	217	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						GATATTTTCCGGCTTTATGTC	0.423000												
PRKAR2B	5577	broad.mit.edu	37	7	106797745	106797745	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:106797745G>A	uc003vdx.2	+	10	1274	c.1099G>A	c.(1099-1101)GCC>ACC	p.A367T		NM_002736	NP_002727	P31323	KAP3_HUMAN	cAMP-dependent protein kinase, regulatory	367	cAMP 2.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			ovary(1)	1						TTCTGCCCACGCCATTGGGAC	0.483000												
DLD	1738	broad.mit.edu	37	7	107542201	107542201	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:107542201T>G	uc003vet.2	+	3	247	c.137T>G	c.(136-138)GTT>GGT	p.V46G	DLD_uc010ljm.1_RNA|DLD_uc011kmg.1_Missense_Mutation_p.V46G|DLD_uc011kmh.1_Missense_Mutation_p.V46G|DLD_uc011kmi.1_Intron	NM_000108	NP_000099	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase precursor	46					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			central_nervous_system(1)	1					NADH(DB00157)	GATGTAACAGTTATAGGTTCT	0.323000												
LAMB1	3912	broad.mit.edu	37	7	107599833	107599833	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:107599833A>G	uc003vew.2	-	20	2886	c.2551T>C	c.(2551-2553)TGT>CGT	p.C851R	LAMB1_uc003vev.2_Missense_Mutation_p.C875R	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	851	Laminin EGF-like 7.				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)	CACCGATCACACTGCCGAGCA	0.572000												
WNT2	7472	broad.mit.edu	37	7	116955140	116955140	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:116955140G>T	uc003viz.2	-	3	873	c.573C>A	c.(571-573)AAC>AAA	p.N191K	WNT2_uc003vja.2_Missense_Mutation_p.N95K	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	191					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	7	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGCCAGCTCTGTTGTTGTGAA	0.403000												
SLC13A1	6561	broad.mit.edu	37	7	122765656	122765656	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:122765656T>C	uc003vkm.2	-	11	1232	c.1207A>G	c.(1207-1209)ACA>GCA	p.T403A	SLC13A1_uc010lks.2_Missense_Mutation_p.T279A	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	403						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	TTAGTCAGTGTCTTAGCTGGG	0.338000												
WASL	8976	broad.mit.edu	37	7	123346379	123346379	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:123346379A>T	uc003vkz.2	-	4	716	c.388T>A	c.(388-390)TTT>ATT	p.F130I		NM_003941	NP_003932	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome gene-like protein	130	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity				0						GCTTTTCGAAATTTTTTTGCT	0.294000												
HYAL4	23553	broad.mit.edu	37	7	123508376	123508376	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:123508376G>A	uc003vlc.2	+	3	687	c.49G>A	c.(49-51)GTA>ATA	p.V17I	HYAL4_uc011knz.1_Missense_Mutation_p.V17I	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	17	Helical; (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						TGTTCAACCAGTACATCTCAC	0.343000												
PLXNA4	91584	broad.mit.edu	37	7	131825463	131825463	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:131825463A>G	uc003vra.3	-	30	5562	c.5333T>C	c.(5332-5334)TTC>TCC	p.F1778S	PLXNA4_uc003vqz.3_Missense_Mutation_p.F63S	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1778	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						AGAGTCCATGAAGGTCTGAGC	0.537000												
CNOT4	4850	broad.mit.edu	37	7	135047689	135047689	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:135047689G>T	uc011kpy.1	-	11	2182	c.2090C>A	c.(2089-2091)CCC>CAC	p.P697H	CNOT4_uc003vss.2_Missense_Mutation_p.P623H|CNOT4_uc011kpz.1_Missense_Mutation_p.P694H|CNOT4_uc003vst.2_Missense_Mutation_p.P626H	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						GGTTTTGCTGGGGGGTCTGAA	0.532000												
KIAA1549	57670	broad.mit.edu	37	7	138603298	138603298	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:138603298A>G	uc011kql.1	-	2	1123	c.1074T>C	c.(1072-1074)CAT>CAC	p.H358H	KIAA1549_uc003vuk.3_Silent_p.H308H|KIAA1549_uc011kqj.1_Silent_p.H358H	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	358						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						GCAATGGAGAATGTGTCCTGC	0.493000			O	BRAF	pilocytic astrocytoma							
UBN2	254048	broad.mit.edu	37	7	138969242	138969242	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:138969242G>T	uc011kqr.1	+	15	3591	c.3591G>T	c.(3589-3591)CAG>CAT	p.Q1197H		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1197	Ser-rich.									ovary(1)|skin(1)	2						GTGGAACACAGGGTGCTACCA	0.498000												
CLCN1	1180	broad.mit.edu	37	7	143036388	143036388	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:143036388G>A	uc003wcr.1	+	13	1531	c.1444G>A	c.(1444-1446)GGA>AGA	p.G482R	CLCN1_uc011ktc.1_Missense_Mutation_p.G94R	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	482	Helical; (By similarity).|Selectivity filter part_3 (By similarity).		G -> R (in MCR).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					CATACCCTGCGGAGGCTTCAT	0.502000												
TPK1	27010	broad.mit.edu	37	7	144150726	144150726	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:144150726A>G	uc003weq.2	-	9	747	c.644T>C	c.(643-645)GTC>GCC	p.V215A	TPK1_uc003weo.2_Missense_Mutation_p.V161A|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.V166A|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	215					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	GGAAGTACTGACCAATGTTCC	0.413000												
CUL1	8454	broad.mit.edu	37	7	148484193	148484193	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:148484193G>A	uc010lpg.2	+	13	1986	c.1460G>A	c.(1459-1461)AGC>AAC	p.S487N	CUL1_uc003wey.2_Missense_Mutation_p.S487N|CUL1_uc003wez.2_Missense_Mutation_p.S377N|CUL1_uc003wfa.2_Missense_Mutation_p.S148N	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	487					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCCGAAGCCAGCATGATCTCC	0.383000												
ZNF786	136051	broad.mit.edu	37	7	148767724	148767724	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:148767724G>A	uc003wfh.2	-	4	2277	c.2140C>T	c.(2140-2142)CGG>TGG	p.R714W	ZNF786_uc011kuk.1_Missense_Mutation_p.R677W|ZNF786_uc003wfi.2_Missense_Mutation_p.R628W	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	714	C2H2-type 15.			R -> W (in Ref. 1; CAD39166).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCCCTTTCCCGGAAGTTCTTG	0.582000												
ZNF746	155061	broad.mit.edu	37	7	149171807	149171807	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:149171807C>T	uc003wfw.2	-	7	1874	c.1603G>A	c.(1603-1605)GAG>AAG	p.E535K	ZNF746_uc010lpi.2_Missense_Mutation_p.E536K	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	535					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AAGGGCCGCTCGCCGGTGTGC	0.657000												
GIMAP8	155038	broad.mit.edu	37	7	150174379	150174379	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:150174379C>T	uc003whj.2	+	5	1839	c.1509C>T	c.(1507-1509)GTC>GTT	p.V503V		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	503						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGCTGGATGTCGAAAAGGACC	0.552000												
ABCF2	10061	broad.mit.edu	37	7	150915664	150915664	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:150915664T>C	uc003wjp.2	-	10	1321	c.1210A>G	c.(1210-1212)AAG>GAG	p.K404E	ABCF2_uc003wjo.1_Missense_Mutation_p.K404E	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F, member 2	404	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTGTATACTTGAAGCTCACA	0.483000												
ERICH1	157697	broad.mit.edu	37	8	623803	623803	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:623803A>G	uc003wph.2	-	4	614	c.549T>C	c.(547-549)GCT>GCC	p.A183A	ERICH1_uc011kwh.1_Silent_p.A183A|ERICH1_uc003wpe.1_Silent_p.A89A|ERICH1_uc003wpi.2_5'UTR	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	183										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TGACACCAGCAGCCTTTGCTG	0.493000												
CSMD1	64478	broad.mit.edu	37	8	2855694	2855694	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:2855694C>T	uc011kwk.1	-	54	8609	c.8219G>A	c.(8218-8220)GGT>GAT	p.G2740D	CSMD1_uc011kwj.1_Missense_Mutation_p.G2069D|CSMD1_uc010lrg.2_Missense_Mutation_p.G750D	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2740	Extracellular (Potential).|Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCAGGGTGACCACATGTGAT	0.463000												
MCPH1	79648	broad.mit.edu	37	8	6338339	6338339	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:6338339G>A	uc003wqi.2	+	11	2146	c.2078G>A	c.(2077-2079)CGC>CAC	p.R693H		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	693	BRCT 2.					microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCACTTCGCACCCTGAAT	0.493000												
MSRA	4482	broad.mit.edu	37	8	10177409	10177409	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:10177409C>T	uc003wsx.2	+	5	650	c.453C>T	c.(451-453)AAC>AAT	p.N151N	MSRA_uc011kwx.1_Silent_p.N111N|MSRA_uc011kwy.1_Silent_p.N108N|MSRA_uc003wsz.2_Silent_p.N108N|MSRA_uc003wsy.2_Silent_p.N85N	NM_012331	NP_036463	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A isoform a	151					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity				0		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GCCAGGGGAACGACCATGGCA	0.547000												
RP1L1	94137	broad.mit.edu	37	8	10464633	10464633	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:10464633G>A	uc003wtc.2	-	4	7204	c.6975C>T	c.(6973-6975)AGC>AGT	p.S2325S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2325					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TGGCATCAGGGCTCCTTGTGT	0.557000												
ASAH1	427	broad.mit.edu	37	8	17927303	17927303	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:17927303A>T	uc003wyl.2	-	4	613	c.301T>A	c.(301-303)TTG>ATG	p.L101M	ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.L101M|ASAH1_uc003wyn.2_Missense_Mutation_p.L117M|ASAH1_uc003wyo.2_Intron	NM_177924	NP_808592	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase 1 isoform a	101					ceramide metabolic process	lysosome	ceramidase activity				0				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TCTCTTACCAATTTTTCATCC	0.318000												
LZTS1	11178	broad.mit.edu	37	8	20112440	20112440	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:20112440G>A	uc003wzr.2	-	1	364	c.253C>T	c.(253-255)CTG>TTG	p.L85L	LZTS1_uc010ltg.1_Silent_p.L85L	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	85					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCGCTGGACAGTGCCGTGTAA	0.577000												
FAM160B2	64760	broad.mit.edu	37	8	21956068	21956068	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:21956068C>T	uc011kyx.1	+	7	954	c.903C>T	c.(901-903)TAC>TAT	p.Y301Y	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	301											0						GCCAGTTGTACCGGTCCATGC	0.647000												
KIAA1967	57805	broad.mit.edu	37	8	22473623	22473623	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:22473623C>T	uc003xch.2	+	14	1844	c.1707C>T	c.(1705-1707)TCC>TCT	p.S569S	KIAA1967_uc003xci.2_Silent_p.S569S|KIAA1967_uc003xcj.1_Silent_p.S238S	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	569					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGGTCGTGTCCCCACCTGAAC	0.537000												
EGR3	1960	broad.mit.edu	37	8	22548028	22548028	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:22548028C>T	uc003xcm.1	-	2	1480	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A	EGR3_uc011kzn.1_Silent_p.A336A|EGR3_uc011kzo.1_Silent_p.A320A	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	374					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)		ACACGGGGGGCGCCGAGGATG	0.672000												
RHOBTB2	23221	broad.mit.edu	37	8	22862901	22862901	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:22862901G>A	uc003xcq.2	+	3	746	c.209G>A	c.(208-210)CGA>CAA	p.R70Q	RHOBTB2_uc003xcp.2_Missense_Mutation_p.R92Q|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R77Q	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	70	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GAACGCTCCCGAGACGTGGTA	0.607000												
STC1	6781	broad.mit.edu	37	8	23709800	23709800	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:23709800G>A	uc003xdw.1	-	2	500	c.216C>T	c.(214-216)GAC>GAT	p.D72D		NM_003155	NP_003146	P52823	STC1_HUMAN	stanniocalcin 1 precursor	72					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			skin(3)|upper_aerodigestive_tract(1)	4		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ATTTACAGATGTCATACATCC	0.488000												
WRN	7486	broad.mit.edu	37	8	30982073	30982073	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:30982073G>A	uc003xio.3	+	22	3454	c.2666G>A	c.(2665-2667)CGA>CAA	p.R889Q	WRN_uc010lvk.2_Missense_Mutation_p.R356Q	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	889	Helicase C-terminal.				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)		GAGAAGTTTCGATTATACAAA	0.303000			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
ERLIN2	11160	broad.mit.edu	37	8	37611432	37611432	+	Splice_Site	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:37611432G>A	uc003xke.3	+	12	935	c.820_splice	c.e12-1	p.L274_splice		NM_007175	NP_009106	O94905	ERLN2_HUMAN	ER lipid raft associated 2 isoform 1						ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding				0		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TTTTTTAACAGCTGAAGCTAA	0.398000												
AGPAT6	137964	broad.mit.edu	37	8	41467268	41467268	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:41467268C>T	uc003xnz.2	+	4	1269	c.330C>T	c.(328-330)TTC>TTT	p.F110F		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	lysophosphatidic acid acyltransferase zeta	110					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity				0	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CTCCAGAGTTCGAGCTCTCTG	0.448000												
PXDNL	137902	broad.mit.edu	37	8	52322009	52322009	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:52322009C>T	uc003xqu.3	-	17	2276	c.2175G>A	c.(2173-2175)GCG>GCA	p.A725A	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	725					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)				CGCGGTACTTCGCATGGAAAC	0.657000												
ST18	9705	broad.mit.edu	37	8	53038681	53038681	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:53038681T>C	uc003xqz.2	-	18	2842	c.2686A>G	c.(2686-2688)AAT>GAT	p.N896D	ST18_uc011ldq.1_Missense_Mutation_p.N543D|ST18_uc011ldr.1_Missense_Mutation_p.N861D|ST18_uc011lds.1_Missense_Mutation_p.N801D|ST18_uc003xra.2_Missense_Mutation_p.N896D	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	896	C2HC-type 6.					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)				ACTTGTGCATTGAGAGGACAT	0.373000												
TCEA1	6917	broad.mit.edu	37	8	54906257	54906257	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:54906257C>A	uc003xru.2	-	4	614	c.291G>T	c.(289-291)TCG>TCT	p.S97S	TCEA1_uc003xrv.2_Silent_p.S76S|TCEA1_uc011ldw.1_Intron|TCEA1_uc003xrw.1_RNA	NM_006756	NP_006747	P23193	TCEA1_HUMAN	transcription elongation factor A 1 isoform 1	97					positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding				0		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			GGCTGTTCTGCGATGTAATTG	0.368000			T	PLAG1	salivary adenoma							
RP1	6101	broad.mit.edu	37	8	55534132	55534132	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:55534132C>T	uc003xsd.1	+	2	754	c.606C>T	c.(604-606)GAC>GAT	p.D202D	RP1_uc011ldy.1_Silent_p.D202D	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	202	Doublecortin 2.		D -> E (in RP1).		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACGCTACGGACGGAAGGAGGG	0.577000												
RP1	6101	broad.mit.edu	37	8	55538400	55538400	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:55538400G>A	uc003xsd.1	+	4	2106	c.1958G>A	c.(1957-1959)GGT>GAT	p.G653D	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	653					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCTCAGTGTGGTTTAACAAAA	0.358000												
NSMAF	8439	broad.mit.edu	37	8	59498296	59498296	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:59498296G>A	uc003xtt.2	-	30	2788	c.2574C>T	c.(2572-2574)TCC>TCT	p.S858S	NSMAF_uc011lee.1_Silent_p.S889S	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	858					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				CAGATAAAACGGAATTTCCAT	0.453000												
C8orf34	116328	broad.mit.edu	37	8	69380980	69380980	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:69380980C>T	uc010lyz.2	+	4	452	c.403C>T	c.(403-405)CGT>TGT	p.R135C	C8orf34_uc010lyy.1_Missense_Mutation_p.R135C|C8orf34_uc003xyb.2_Missense_Mutation_p.R110C	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	135					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ACCACAAAGCCGTGATTTTGA	0.383000												
ZFHX4	79776	broad.mit.edu	37	8	77765696	77765696	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:77765696C>T	uc003yav.2	+	10	6791	c.6404C>T	c.(6403-6405)ACG>ATG	p.T2135M	ZFHX4_uc003yau.1_Missense_Mutation_p.T2180M|ZFHX4_uc003yaw.1_Missense_Mutation_p.T2135M	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2135	Homeobox 1.					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)			TTTAGAAATACGCTTTTTAAG	0.373000										HNSCC(33;0.089)		
WWP1	11059	broad.mit.edu	37	8	87424099	87424099	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:87424099T>G	uc003ydt.2	+	9	1337	c.1057T>G	c.(1057-1059)TCA>GCA	p.S353A	WWP1_uc010mai.2_Missense_Mutation_p.S129A	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	353	WW 1.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						AACCTTGCCATCAGGGTATGT	0.403000												
OSGIN2	734	broad.mit.edu	37	8	90937134	90937134	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:90937134C>T	uc003yeg.2	+	6	1238	c.892C>T	c.(892-894)CGT>TGT	p.R298C	OSGIN2_uc003yeh.2_Missense_Mutation_p.R342C	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	298					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AGGAAAGTTGCGTGGCAAAGT	0.438000												
OSGIN2	734	broad.mit.edu	37	8	90937459	90937459	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:90937459T>G	uc003yeg.2	+	6	1563	c.1217T>G	c.(1216-1218)CTG>CGG	p.L406R	OSGIN2_uc003yeh.2_Missense_Mutation_p.L450R	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	406					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATATTTAAGCTGTCTGCAGCA	0.423000												
TMEM67	91147	broad.mit.edu	37	8	94794663	94794663	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:94794663C>T	uc011lgk.1	+	11	1177	c.1106C>T	c.(1105-1107)TCA>TTA	p.S369L	TMEM67_uc010mat.1_Missense_Mutation_p.S284L|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Missense_Mutation_p.S288L	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	369					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GCTGCTTATTCATTTGGAACA	0.303000												
PGCP	10404	broad.mit.edu	37	8	97978250	97978250	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:97978250G>A	uc003yhw.2	+	5	1103	c.937G>A	c.(937-939)GCA>ACA	p.A313T	PGCP_uc010mbe.2_Missense_Mutation_p.A313T	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	313					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity			upper_aerodigestive_tract(1)	1	Breast(36;1.86e-05)					ATCATGGGAAGCACTCTCACT	0.393000												
RGS22	26166	broad.mit.edu	37	8	101054050	101054050	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:101054050C>T	uc003yjb.1	-	12	2113	c.1918G>A	c.(1918-1920)GCT>ACT	p.A640T	RGS22_uc003yja.1_Missense_Mutation_p.A459T|RGS22_uc003yjc.1_Missense_Mutation_p.A628T|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	640					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCTGTATAAGCGTATCTTCTA	0.358000												
UBR5	51366	broad.mit.edu	37	8	103274148	103274148	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:103274148C>A	uc003ykr.1	-	55	7870	c.7837G>T	c.(7837-7839)GGA>TGA	p.G2613*	UBR5_uc003yks.1_Nonsense_Mutation_p.G2612*|UBR5_uc003ykq.2_Nonsense_Mutation_p.G124*	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2613	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)			TTTACCTGTCCTCCACCTTCT	0.408000												
UBR5	51366	broad.mit.edu	37	8	103297902	103297902	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:103297902T>G	uc003ykr.1	-	39	5356	c.5323A>C	c.(5323-5325)AGC>CGC	p.S1775R	UBR5_uc003yks.1_Missense_Mutation_p.S1775R	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1775					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)			AGGTAACTGCTGGCGTTGCTA	0.463000												
RIMS2	9699	broad.mit.edu	37	8	105263283	105263283	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:105263283C>T	uc003yls.2	+	27	4018	c.3777C>T	c.(3775-3777)AAC>AAT	p.N1259N	RIMS2_uc003ylp.2_Silent_p.N1241N|RIMS2_uc003ylw.2_Silent_p.N1248N|RIMS2_uc003ylq.2_Silent_p.N1055N|RIMS2_uc003ylr.2_Silent_p.N1080N	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1303	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TATTAGATAACGGAGTCTGCA	0.423000										HNSCC(12;0.0054)		
SYBU	55638	broad.mit.edu	37	8	110587156	110587156	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:110587156G>A	uc003ynj.3	-	7	2134	c.1971C>T	c.(1969-1971)ACC>ACT	p.T657T	SYBU_uc003yni.3_Silent_p.T654T|SYBU_uc003ynk.3_Silent_p.T538T|SYBU_uc010mco.2_Silent_p.T656T|SYBU_uc003ynl.3_Silent_p.T656T|SYBU_uc010mcp.2_Silent_p.T657T|SYBU_uc010mcq.2_Silent_p.T657T|SYBU_uc003yno.3_Silent_p.T538T|SYBU_uc010mcr.2_Silent_p.T657T|SYBU_uc003ynm.3_Silent_p.T656T|SYBU_uc003ynn.3_Silent_p.T656T|SYBU_uc010mcs.2_Silent_p.T538T|SYBU_uc010mct.2_Silent_p.T657T|SYBU_uc010mcu.2_Silent_p.T656T|SYBU_uc003ynp.3_Silent_p.T589T|SYBU_uc010mcv.2_Silent_p.T657T|SYBU_uc003ynh.3_Silent_p.T451T|SYBU_uc011lhw.1_Silent_p.T527T	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	657						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		p.R657H(1)		ovary(1)	1						TACGGAAGGCGGTGCGGCGGA	0.532000												
MED30	90390	broad.mit.edu	37	8	118543004	118543004	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:118543004G>A	uc003yoj.2	+	3	530	c.379G>A	c.(379-381)GAT>AAT	p.D127N	MED30_uc011lib.1_Intron	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	TRAP/Mediator complex component TRAP25	127					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				0	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			AAAGAATGATGATCGGGCTGG	0.338000												
EXT1	2131	broad.mit.edu	37	8	119122904	119122904	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:119122904C>T	uc003yok.1	-	1	1155	c.382G>A	c.(382-384)GCC>ACC	p.A128T		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	128	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)			TAACTTTCGGCGATTTTCTCC	0.512000			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome			
ENPP2	5168	broad.mit.edu	37	8	120581581	120581581	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:120581581C>A	uc003yot.1	-	21	2033	c.1947G>T	c.(1945-1947)CTG>CTT	p.L649L	ENPP2_uc011lic.1_Silent_p.L187L|ENPP2_uc003yor.1_Silent_p.L284L|ENPP2_uc003yos.1_Silent_p.L701L|ENPP2_uc010mdd.1_Silent_p.L674L	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	649					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CGCAACTGGTCAGATGGTCAG	0.522000												
FAM91A1	157769	broad.mit.edu	37	8	124798813	124798813	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:124798813G>A	uc003yqv.2	+	12	1102	c.1041G>A	c.(1039-1041)TCG>TCA	p.S347S	FAM91A1_uc011lik.1_Silent_p.S347S|FAM91A1_uc011lil.1_Silent_p.S105S	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	347										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AAGCTTCATCGGCAACTGACA	0.423000												
MTSS1	9788	broad.mit.edu	37	8	125565503	125565503	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:125565503G>A	uc003yrk.2	-	14	2532	c.1998C>T	c.(1996-1998)AGC>AGT	p.S666S	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Silent_p.S315S|MTSS1_uc011lin.1_Silent_p.S440S|MTSS1_uc011lio.1_Silent_p.S556S|MTSS1_uc003yri.2_Silent_p.S384S|MTSS1_uc003yrj.2_Silent_p.S641S|MTSS1_uc003yrl.2_Silent_p.S670S	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	666	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGCTTGGCCGCTCCACATTG	0.607000												
ASAP1	50807	broad.mit.edu	37	8	131130877	131130877	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:131130877C>A	uc003yta.1	-	18	1680	c.1652G>T	c.(1651-1653)AGG>ATG	p.R551M	ASAP1_uc003ysz.1_Missense_Mutation_p.R362M|ASAP1_uc011liw.1_Missense_Mutation_p.R544M	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	551	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						CCTTGAAAACCTATGATCTAC	0.338000												
ASAP1	50807	broad.mit.edu	37	8	131165019	131165019	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:131165019G>A	uc003yta.1	-	12	1071	c.1043C>T	c.(1042-1044)TCA>TTA	p.S348L	ASAP1_uc003ysz.1_Missense_Mutation_p.S159L|ASAP1_uc011liw.1_Missense_Mutation_p.S341L	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	348	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						ATTCTTGACTGAACACTTCCT	0.433000												
TG	7038	broad.mit.edu	37	8	133883670	133883670	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:133883670C>T	uc003ytw.2	+	4	393	c.352C>T	c.(352-354)CCT>TCT	p.P118S		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	118	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCCTACCTCCCTCAGTGTCA	0.527000												
TG	7038	broad.mit.edu	37	8	134125772	134125772	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:134125772C>T	uc003ytw.2	+	44	7720	c.7679C>T	c.(7678-7680)GCT>GTT	p.A2560V	TG_uc010mdw.2_Missense_Mutation_p.A1319V|TG_uc011ljb.1_Missense_Mutation_p.A929V|TG_uc011ljc.1_Missense_Mutation_p.A693V	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2560					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGCTGCTGCTACATGGTAT	0.577000												
NDRG1	10397	broad.mit.edu	37	8	134292508	134292508	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:134292508G>T	uc003yuh.2	-	3	652	c.66C>A	c.(64-66)ACC>ACA	p.T22T	NDRG1_uc003yug.2_Silent_p.T22T|NDRG1_uc010mee.2_5'UTR|NDRG1_uc010mef.2_Intron|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	22					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding			ovary(4)	4	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GGCCGGTGATGGTCTGTGAAA	0.418000												
FLJ43860	389690	broad.mit.edu	37	8	142500310	142500310	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:142500310G>A	uc003ywi.2	-	5	685	c.604C>T	c.(604-606)CGG>TGG	p.R202W	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	202							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCCACCACCCGCCACGAGTGC	0.652000												
ZFP41	286128	broad.mit.edu	37	8	144332324	144332324	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:144332324G>A	uc003yxw.2	+	2	669	c.311G>A	c.(310-312)CGC>CAC	p.R104H	ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	zinc finger protein 41 homolog	104	C2H2-type 1.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GACCACATTCGCCATCAGAGG	0.547000												
FAM83H	286077	broad.mit.edu	37	8	144810216	144810216	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:144810216A>G	uc003yzk.2	-	5	1484	c.1415T>C	c.(1414-1416)CTG>CCG	p.L472P	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	472					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)			CTTCTCGAACAGGCCTTGCGG	0.711000												
EPPK1	83481	broad.mit.edu	37	8	144944068	144944068	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:144944068A>G	uc003zaa.1	-	1	3367	c.3354T>C	c.(3352-3354)AGT>AGC	p.S1118S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1118						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCAGGAGCACTTTCTGGCA	0.687000												
PARP10	84875	broad.mit.edu	37	8	145059498	145059498	+	Splice_Site	SNP	T	T	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:145059498T>A	uc003zal.3	-	5	782	c.674_splice	c.e5-1	p.V225_splice	PARP10_uc003zak.3_Splice_Site|PARP10_uc011lku.1_Splice_Site_p.V237_splice|PARP10_uc011lkv.1_Splice_Site|PARP10_uc003zam.2_Splice_Site_p.V225_splice|PARP10_uc010mfn.1_Intron|PARP10_uc010mfo.1_Intron	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10							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)			gttctgccacttggaggaagg	0.269000												
PARP10	84875	broad.mit.edu	37	8	145060298	145060298	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:145060298G>A	uc003zal.3	-	2	214	c.106C>T	c.(106-108)CGC>TGC	p.R36C	PARP10_uc003zak.3_5'Flank|PARP10_uc011lku.1_Missense_Mutation_p.R48C|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.R36C|PARP10_uc010mfn.1_Missense_Mutation_p.R36C|PARP10_uc010mfo.1_Intron	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	36						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)			CCTCCAGAGCGTCGGCGGTTT	0.652000												
ADCK5	203054	broad.mit.edu	37	8	145617902	145617902	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:145617902A>G	uc003zch.2	+	13	1564	c.1510A>G	c.(1510-1512)ATG>GTG	p.M504V	ADCK5_uc003zcg.2_RNA|ADCK5_uc003zci.2_Missense_Mutation_p.M93V	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	504						integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTACTTCCTTATGGCTAAAAG	0.706000												
CPSF1	29894	broad.mit.edu	37	8	145619218	145619218	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:145619218G>A	uc003zcj.2	-	35	3970	c.3895C>T	c.(3895-3897)CGG>TGG	p.R1299W		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	1299					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AAGTCTGCCCGACGCAGCAGG	0.657000												
MFSD3	113655	broad.mit.edu	37	8	145736269	145736269	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:145736269G>C	uc003zdi.1	+	4	1213	c.1048G>C	c.(1048-1050)GCC>CCC	p.A350P		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	350	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)	2	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)			CAGCCAGCTGGCCCCCAGGGC	0.647000												
DOCK8	81704	broad.mit.edu	37	9	428479	428479	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:428479C>T	uc003zgf.2	+	35	4568	c.4456C>T	c.(4456-4458)CGT>TGT	p.R1486C	DOCK8_uc010mgu.2_Missense_Mutation_p.R788C|DOCK8_uc010mgv.2_Missense_Mutation_p.R1386C|DOCK8_uc003zgk.2_Missense_Mutation_p.R944C	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1486	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGCAACACTCCGTGCTCTCAT	0.468000												
KANK1	23189	broad.mit.edu	37	9	676999	676999	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:676999C>T	uc003zgl.1	+	6	676	c.27C>T	c.(25-27)GGC>GGT	p.G9G	KANK1_uc003zgm.2_Silent_p.G9G|KANK1_uc003zgn.1_Silent_p.G9G|KANK1_uc003zgo.1_Silent_p.G9G|KANK1_uc003zgp.1_Silent_p.G9G	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	9					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AGGTTAACGGCAGTGCCTCAG	0.398000												
KANK1	23189	broad.mit.edu	37	9	712829	712829	+	Missense_Mutation	SNP	C	C	T	rs146648084	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:712829C>T	uc003zgl.1	+	7	2712	c.2063C>T	c.(2062-2064)ACG>ATG	p.T688M	KANK1_uc003zgm.2_Missense_Mutation_p.T688M|KANK1_uc003zgn.1_Missense_Mutation_p.T688M|KANK1_uc003zgo.1_Missense_Mutation_p.T688M|KANK1_uc003zgp.1_Missense_Mutation_p.T688M|KANK1_uc003zgq.2_Missense_Mutation_p.T530M|KANK1_uc003zgr.1_Missense_Mutation_p.T530M|KANK1_uc003zgs.1_Missense_Mutation_p.T530M	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	688					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AACACCGAGACGGCCACCCTC	0.557000												
ADAMTSL1	92949	broad.mit.edu	37	9	18706941	18706941	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:18706941A>G	uc003zne.3	+	14	1898	c.1771A>G	c.(1771-1773)AAC>GAC	p.N591D		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	591						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		TCCTGAGTTCAACCCAGACGA	0.582000												
C9orf82	79886	broad.mit.edu	37	9	26842535	26842535	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:26842535C>T	uc003zqc.2	-	6	862	c.850G>A	c.(850-852)GTC>ATC	p.V284I	C9orf82_uc003zqb.2_Missense_Mutation_p.V139I	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN	hypothetical protein LOC79886	284	Potential.										0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TCACTTTGGACTGTATTTTCT	0.458000												
PLAA	9373	broad.mit.edu	37	9	26919401	26919401	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:26919401T>C	uc003zqd.2	-	9	1749	c.1324A>G	c.(1324-1326)ATG>GTG	p.M442V	PLAA_uc003zqe.2_Missense_Mutation_p.M442V	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	442	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity				0		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCCAGAAACATAGGATTCAAA	0.353000												
ACO1	48	broad.mit.edu	37	9	32418455	32418455	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:32418455G>A	uc003zqw.3	+	6	759	c.604G>A	c.(604-606)GTG>ATG	p.V202M	ACO1_uc010mjh.1_Missense_Mutation_p.V36M|ACO1_uc003zqx.3_Missense_Mutation_p.V202M|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	202					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGACAGCCTCGTGGGCACAGA	0.458000												
AQP7	364	broad.mit.edu	37	9	33386192	33386192	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:33386192C>T	uc003zst.2	-	6	580	c.408G>A	c.(406-408)ACG>ACA	p.T136T	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Silent_p.T79T|AQP7_uc010mjs.2_Silent_p.T44T|AQP7_uc010mjt.2_Silent_p.T44T|AQP7_uc011lnx.1_Silent_p.T136T|AQP7_uc011lny.1_Silent_p.T135T|AQP7_uc003zss.3_Silent_p.T44T|AQP7_uc011lnz.1_Silent_p.T44T|AQP7_uc011loa.1_Intron	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	136	Extracellular (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGAGAATGGCCGCTGCGGAGA	0.567000												
KIF24	347240	broad.mit.edu	37	9	34271901	34271901	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:34271901T>C	uc003zua.3	-	7	1363	c.1243A>G	c.(1243-1245)AGC>GGC	p.S415G	KIF24_uc010mkb.2_Missense_Mutation_p.S446G	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	415	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			GCCCCAGTGCTGCGCTCCTTG	0.498000												
NUDT2	318	broad.mit.edu	37	9	34339041	34339041	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:34339041G>A	uc003zub.2	+	4	362	c.4G>A	c.(4-6)GCC>ACC	p.A2T	NUDT2_uc003zuc.2_Missense_Mutation_p.A2T|NUDT2_uc003zud.2_Missense_Mutation_p.A2T	NM_001161	NP_001152	P50583	AP4A_HUMAN	nudix-type motif 2	2	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TAAGACCATGGCCTTGAGAGC	0.438000												
STOML2	30968	broad.mit.edu	37	9	35101481	35101481	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:35101481C>T	uc003zwi.2	-	6	584	c.521G>A	c.(520-522)CGT>CAT	p.R174H	STOML2_uc003zwh.2_Missense_Mutation_p.R65H|STOML2_uc003zwj.2_Missense_Mutation_p.R65H|STOML2_uc011lou.1_Intron|STOML2_uc003zwk.2_Missense_Mutation_p.R123H	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	174						cytoskeleton	receptor binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GATCTCATAACGGAGGCAGCG	0.572000												
TESK1	7016	broad.mit.edu	37	9	35609590	35609590	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:35609590T>G	uc003zxa.2	+	10	2068	c.1732T>G	c.(1732-1734)TTT>GTT	p.F578V	TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.F418V	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	578					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCCTTCAGCTTTGGCTTCCT	0.692000												
SPAG8	26206	broad.mit.edu	37	9	35810888	35810888	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:35810888G>A	uc003zye.2	-	3	1146	c.1031C>T	c.(1030-1032)CCA>CTA	p.P344L	SPAG8_uc003zyf.2_Missense_Mutation_p.P261L|SPAG8_uc003zyg.2_Missense_Mutation_p.P344L	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	344						acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			ACCTCGAAGTGGCCAATAGAC	0.547000												
CLTA	1211	broad.mit.edu	37	9	36209304	36209304	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:36209304G>A	uc003zzc.2	+	5	688	c.526G>A	c.(526-528)GTG>ATG	p.V176M	CLTA_uc003zzd.2_Missense_Mutation_p.V176M|CLTA_uc003zze.2_Intron|CLTA_uc011lpk.1_Intron|CLTA_uc003zzf.1_Intron	NM_007096	NP_009027	P09496	CLCA_HUMAN	clathrin, light polypeptide A isoform b	176					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)			CTTCGCTGACGTGATTGGTTA	0.403000												
ALDH1B1	219	broad.mit.edu	37	9	38396879	38396879	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:38396879G>T	uc004aay.2	+	2	1246	c.1134G>T	c.(1132-1134)CAG>CAT	p.Q378H		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	378					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AGCTTGGCCAGAAGGAGGGCG	0.567000												
FAM189A2	9413	broad.mit.edu	37	9	72003185	72003185	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:72003185G>A	uc010mon.1	+	10	1072	c.968G>A	c.(967-969)CGG>CAG	p.R323Q	FAM189A2_uc004ahg.2_Missense_Mutation_p.R323Q|FAM189A2_uc010moo.1_Intron	NM_001127608	NP_001121080	Q15884	F1892_HUMAN	chromosome 9 open reading frame 61 precursor	323						integral to membrane					0						TGCAGACCGCGGTCTTTGATA	0.522000												
MAMDC2	256691	broad.mit.edu	37	9	72727953	72727953	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:72727953G>A	uc004ahm.2	+	5	1165	c.548G>A	c.(547-549)CGC>CAC	p.R183H	MAMDC2_uc004ahn.2_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	183	MAM 2.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						TTTGTGAACCGCTGGAATCCC	0.473000												
TRPM3	80036	broad.mit.edu	37	9	73152286	73152286	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:73152286T>C	uc004aid.2	-	25	3951	c.3707A>G	c.(3706-3708)AAC>AGC	p.N1236S	TRPM3_uc004ahu.2_Missense_Mutation_p.N1078S|TRPM3_uc004ahv.2_Missense_Mutation_p.N1038S|TRPM3_uc004ahw.2_Missense_Mutation_p.N1108S|TRPM3_uc004ahx.2_Missense_Mutation_p.N1095S|TRPM3_uc004ahy.2_Missense_Mutation_p.N1098S|TRPM3_uc004ahz.2_Missense_Mutation_p.N1085S|TRPM3_uc004aia.2_Missense_Mutation_p.N1083S|TRPM3_uc004aib.2_Missense_Mutation_p.N1073S|TRPM3_uc004aic.2_Missense_Mutation_p.N1236S	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1261	Cytoplasmic (Potential).|Potential.					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						CTCTCTCTCGTTGACTTCCTC	0.602000												
TRPM3	80036	broad.mit.edu	37	9	73213485	73213485	+	Silent	SNP	G	G	A	rs145029936		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:73213485G>A	uc004aid.2	-	20	3106	c.2862C>T	c.(2860-2862)GTC>GTT	p.V954V	TRPM3_uc004ahu.2_Silent_p.V784V|TRPM3_uc004ahv.2_Silent_p.V756V|TRPM3_uc004ahw.2_Silent_p.V826V|TRPM3_uc004ahx.2_Silent_p.V813V|TRPM3_uc004ahy.2_Silent_p.V816V|TRPM3_uc004ahz.2_Silent_p.V803V|TRPM3_uc004aia.2_Silent_p.V801V|TRPM3_uc004aib.2_Silent_p.V791V|TRPM3_uc004aic.2_Silent_p.V954V	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	979	Helical; (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GGATCATTCCGACAGAAAACA	0.498000												
PCSK5	5125	broad.mit.edu	37	9	78773924	78773924	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:78773924C>T	uc004ajz.2	+	12	1994	c.1456C>T	c.(1456-1458)CGC>TGC	p.R486C	PCSK5_uc004ajy.2_Missense_Mutation_p.R486C|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	486	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						CAGTGCAGTGCGCTCCATCTA	0.542000												
C9orf170	401535	broad.mit.edu	37	9	89763701	89763701	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:89763701G>T	uc004apa.1	+	1	143	c.56G>T	c.(55-57)GGG>GTG	p.G19V		NM_001001709	NP_001001709	A2RU37	CI170_HUMAN	hypothetical protein LOC401535	19											0						CTCCTCCTGGGGGTGTGGGGG	0.711000												
ROR2	4920	broad.mit.edu	37	9	94486805	94486805	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:94486805G>A	uc004arj.1	-	9	2170	c.1971C>T	c.(1969-1971)CGC>CGT	p.R657R	ROR2_uc004ari.1_Silent_p.R517R	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	657	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GGGCCATCCAGCGGATAGGCA	0.577000												
IARS	3376	broad.mit.edu	37	9	94984874	94984874	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:94984874A>G	uc004art.1	-	33	3891	c.3634T>C	c.(3634-3636)TAT>CAT	p.Y1212H	IARS_uc004ars.1_Missense_Mutation_p.Y1005H|IARS_uc004aru.3_Missense_Mutation_p.Y1212H|IARS_uc010mqr.2_Missense_Mutation_p.Y1102H|IARS_uc010mqt.2_Missense_Mutation_p.Y435H	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	1212					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	GCTGCTTCATACAGAAGACCT	0.493000												
NOL8	55035	broad.mit.edu	37	9	95076606	95076606	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:95076606C>T	uc004arv.2	-	7	2638	c.2301G>A	c.(2299-2301)GCG>GCA	p.A767A	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Silent_p.A699A	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	767	Potential.				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						CTTTTTGCCTCGCTTCCAAGG	0.383000												
BICD2	23299	broad.mit.edu	37	9	95480885	95480885	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:95480885G>A	uc004aso.1	-	5	2099	c.2042C>T	c.(2041-2043)TCG>TTG	p.S681L	BICD2_uc004asp.1_Missense_Mutation_p.S681L	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	681	Interacts with RAB6A (By similarity).|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						GCTGAGCAGCGACTTCAGCTT	0.622000												
ZNF484	83744	broad.mit.edu	37	9	95610073	95610073	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:95610073G>A	uc004asu.1	-	5	1145	c.996C>T	c.(994-996)GAC>GAT	p.D332D	ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Silent_p.D334D|ZNF484_uc010mrb.1_Silent_p.D296D|ZNF484_uc004asv.1_Silent_p.D296D	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN	zinc finger protein 484 isoform a	332	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTCTTCCATAGTCACTGCATT	0.398000												
FAM120A	23196	broad.mit.edu	37	9	96278468	96278468	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:96278468C>T	uc004atw.2	+	7	1360	c.1335C>T	c.(1333-1335)CCC>CCT	p.P445P	FAM120A_uc004atv.2_Silent_p.P445P|FAM120A_uc004atx.2_Silent_p.P227P|FAM120A_uc004aty.2_Silent_p.P226P|FAM120A_uc004atz.2_Silent_p.P94P|FAM120A_uc010mrf.1_RNA	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	445						cytoplasm|plasma membrane	RNA binding				0						GCGGCAGCCCCAACCACGTGG	0.612000												
PTPDC1	138639	broad.mit.edu	37	9	96859910	96859910	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:96859910G>A	uc004auf.1	+	7	1240	c.900G>A	c.(898-900)GCG>GCA	p.A300A	PTPDC1_uc004aug.1_Silent_p.A300A|PTPDC1_uc004auh.1_Silent_p.A352A|PTPDC1_uc010mrj.1_Silent_p.A354A|PTPDC1_uc010mri.1_Silent_p.A352A	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	300							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						TGGACTTAGCGGAGAACAGGC	0.468000												
C9orf102	375748	broad.mit.edu	37	9	98678714	98678714	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:98678714C>T	uc004avt.3	+	6	1577	c.1189C>T	c.(1189-1191)CGG>TGG	p.R397W	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.R99W|C9orf102_uc010mry.1_Missense_Mutation_p.R99W|C9orf102_uc010mrz.2_Missense_Mutation_p.R208W	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	397					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				GAAGGAAGACCGGGTAAGAAC	0.393000												
KIAA1529	57653	broad.mit.edu	37	9	100088885	100088885	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:100088885G>T	uc011lut.1	+	27	2917	c.2144G>T	c.(2143-2145)AGT>ATT	p.S715I	KIAA1529_uc004axe.1_Missense_Mutation_p.S715I|KIAA1529_uc004axg.1_Missense_Mutation_p.S576I|KIAA1529_uc011lus.1_Missense_Mutation_p.S533I|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.S576I|KIAA1529_uc011luv.1_Missense_Mutation_p.S573I	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				AGGCAGCAAAGTGACAAAGAA	0.517000												
TMOD1	7111	broad.mit.edu	37	9	100331261	100331261	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:100331261G>A	uc004axk.1	+	8	1025	c.812G>A	c.(811-813)CGC>CAC	p.R271H	TMOD1_uc004axl.1_Missense_Mutation_p.R271H	NM_003275	NP_003266	P28289	TMOD1_HUMAN	tropomodulin 1	271					muscle filament sliding	cytosol	actin binding				0		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GGGATTCTGCGCCTGGTAGAA	0.488000												
TRIM14	9830	broad.mit.edu	37	9	100849874	100849874	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:100849874C>T	uc004ayd.2	-	6	1225	c.1207G>A	c.(1207-1209)GCC>ACC	p.A403T	TRIM14_uc004ayf.1_Missense_Mutation_p.A310T|TRIM14_uc011luz.1_Missense_Mutation_p.A181T|TRIM14_uc011lva.1_Missense_Mutation_p.A184T|TRIM14_uc004ayg.1_Missense_Mutation_p.A403T|TRIM14_uc004ayh.1_Missense_Mutation_p.A403T|TRIM14_uc004ayi.1_Intron|TRIM14_uc004ayj.1_Missense_Mutation_p.A310T	NM_033220	NP_150089	Q14142	TRI14_HUMAN	tripartite motif protein TRIM14 isoform alpha	403	B30.2/SPRY.			RLRPRDDLDRLGVFLDYEAGVLAFYDVTGGMSHLHTFRATF QEPLYPALRLWEGAISIPRLP -> ACGPATTSTGSASSWT TRPASSPSTT (in Ref. 2; BAA09478).		cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TCGTAGAAGGCGAGGACGCCG	0.711000												
GABBR2	9568	broad.mit.edu	37	9	101216327	101216327	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:101216327G>A	uc004ays.2	-	7	1328	c.1172C>T	c.(1171-1173)ACG>ATG	p.T391M		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	391	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)	CGTGTGGTCCGTGTAGTTGAA	0.582000												
ANKS6	203286	broad.mit.edu	37	9	101552402	101552402	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:101552402G>A	uc004ayu.2	-	2	867	c.846C>T	c.(844-846)ACC>ACT	p.T282T	ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	282	ANK 7.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				TGGGCCTGACGGTGGTCAGCG	0.577000												
ACTL7B	10880	broad.mit.edu	37	9	111617761	111617761	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:111617761G>A	uc004bdi.2	-	1	515	c.450C>T	c.(448-450)TCC>TCT	p.S150S		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	actin-like 7B	150						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			pancreas(1)	1						GCGGAGGGTCGGAGACCAGCA	0.627000												
PTPN3	5774	broad.mit.edu	37	9	112143955	112143955	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:112143955G>A	uc004bed.2	-	25	2753	c.2641C>T	c.(2641-2643)CGC>TGC	p.R881C	PTPN3_uc004beb.2_Missense_Mutation_p.R750C|PTPN3_uc004bec.2_Missense_Mutation_p.R705C|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.R836C|PTPN3_uc011lwh.1_Missense_Mutation_p.R727C|PTPN3_uc011lwd.1_Missense_Mutation_p.R349C|PTPN3_uc011lwe.1_Missense_Mutation_p.R594C|PTPN3_uc011lwf.1_Missense_Mutation_p.R549C	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	881	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						ATCATGGCGCGCTGGTCTCGC	0.512000												
LPAR1	1902	broad.mit.edu	37	9	113704261	113704261	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:113704261C>T	uc004bfa.2	-	4	488	c.233G>A	c.(232-234)CGC>CAC	p.R78H	LPAR1_uc011lwm.1_Missense_Mutation_p.R79H|LPAR1_uc004bfb.2_Missense_Mutation_p.R78H|LPAR1_uc004bfc.2_Missense_Mutation_p.R78H|LPAR1_uc011lwn.1_Missense_Mutation_p.R60H|LPAR1_uc011lwo.1_Missense_Mutation_p.R79H|LPAR1_uc010mub.2_Missense_Mutation_p.R78H	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	78	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				ovary(2)	2						ATGGAAGCGGCGGTTGACATA	0.463000												
KIAA1958	158405	broad.mit.edu	37	9	115421658	115421658	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:115421658G>A	uc004bgf.1	+	4	1635	c.1460G>A	c.(1459-1461)CGC>CAC	p.R487H	KIAA1958_uc011lwx.1_Missense_Mutation_p.R515H	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	487										skin(1)	1						GGCCTGGACCGCATCCTGAAG	0.557000												
DBC1	1620	broad.mit.edu	37	9	121929368	121929368	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:121929368G>T	uc004bkc.2	-	8	2736	c.2280C>A	c.(2278-2280)CTC>CTA	p.L760L		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	760					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						CGGGTTAGCAGAGTTTGGCTG	0.413000												
PHF19	26147	broad.mit.edu	37	9	123620372	123620372	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:123620372G>T	uc004bks.1	-	15	1846	c.1593C>A	c.(1591-1593)TCC>TCA	p.S531S	PHF19_uc011lyf.1_Silent_p.S322S|PHF19_uc004bkr.2_RNA	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2						GGTGGGACAGGGATGAGTCAT	0.587000												
GSN	2934	broad.mit.edu	37	9	124081159	124081159	+	Splice_Site	SNP	G	G	A	rs113048496		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:124081159G>A	uc004blf.1	+	9	1405	c.1344_splice	c.e9+1	p.Q448_splice	GSN_uc004bld.1_Splice_Site_p.Q397_splice|GSN_uc010mvq.1_Splice_Site_p.Q408_splice|GSN_uc010mvr.1_Splice_Site_p.Q408_splice|GSN_uc010mvu.1_Splice_Site_p.Q397_splice|GSN_uc010mvt.1_Splice_Site_p.Q397_splice|GSN_uc010mvs.1_Splice_Site_p.Q397_splice|GSN_uc004ble.1_Splice_Site_p.Q397_splice|GSN_uc010mvv.1_Splice_Site_p.Q397_splice|GSN_uc011lyh.1_Splice_Site_p.Q414_splice|GSN_uc011lyi.1_Splice_Site_p.Q397_splice|GSN_uc011lyj.1_Splice_Site_p.Q421_splice|GSN_uc004blg.1_Splice_Site_p.Q179_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						CCAGAAACAGGTACGTTTAGG	0.632000												
CRB2	286204	broad.mit.edu	37	9	126132397	126132397	+	Silent	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:126132397T>C	uc004bnx.1	+	7	1157	c.1065T>C	c.(1063-1065)TGT>TGC	p.C355C	CRB2_uc004bnw.1_Silent_p.C355C	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	355	Extracellular (Potential).|EGF-like 7; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GGCCGACATGTGAGGAAGATG	0.552000												
ANGPTL2	23452	broad.mit.edu	37	9	129870316	129870316	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:129870316C>T	uc004bqr.1	-	2	1195	c.695G>A	c.(694-696)CGC>CAC	p.R232H	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	232					multicellular organismal development|signal transduction	extracellular space	receptor binding				0						GTTGATGATGCGGTTGTAGGT	0.652000												
STXBP1	6812	broad.mit.edu	37	9	130416038	130416038	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:130416038C>T	uc004brl.2	+	3	329	c.132C>T	c.(130-132)TGC>TGT	p.C44C	STXBP1_uc004brk.2_Silent_p.C44C	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	44					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			skin(1)	1						TGTCCTCCTGCTGCAAGATGA	0.448000												
C9orf119	375757	broad.mit.edu	37	9	131050962	131050962	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:131050962G>A	uc004bup.2	+	5	675	c.675G>A	c.(673-675)TTG>TTA	p.L225L		NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	hypothetical protein LOC375757	225					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding				0						CCAAAGAGTTGTATCCAGAGT	0.552000												
ODF2	4957	broad.mit.edu	37	9	131254775	131254775	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:131254775T>C	uc011mbd.1	+	15	1918	c.1607T>C	c.(1606-1608)GTG>GCG	p.V536A	ODF2_uc011maz.1_Missense_Mutation_p.V536A|ODF2_uc011mbb.1_Missense_Mutation_p.V470A|ODF2_uc011mbc.1_Missense_Mutation_p.V455A|ODF2_uc004bva.2_Missense_Mutation_p.V489A|ODF2_uc004bvb.2_Missense_Mutation_p.V512A|ODF2_uc011mbe.1_Missense_Mutation_p.V531A|ODF2_uc004bvc.2_Missense_Mutation_p.V512A|ODF2_uc011mbf.1_Missense_Mutation_p.V517A|ODF2_uc004bvd.3_Missense_Mutation_p.V536A|ODF2_uc004bve.2_Missense_Mutation_p.V517A	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	536	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						AAGGCCTCAGTGAAGAACTAT	0.567000												
METTL11A	28989	broad.mit.edu	37	9	132397660	132397660	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:132397660G>A	uc004byd.1	+	4	783	c.589G>A	c.(589-591)GCA>ACA	p.A197T	METTL11A_uc010myw.1_RNA|METTL11A_uc011mbs.1_3'UTR|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.1_3'UTR|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_3'UTR|ASB6_uc010myx.1_3'UTR	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	methyltransferase like 11A	197					chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity				0						CATCTGCAGTGCAGGCCTCAG	0.612000												
DDX31	64794	broad.mit.edu	37	9	135470282	135470282	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:135470282G>A	uc004cbq.1	-	20	2679	c.2527C>T	c.(2527-2529)CGG>TGG	p.R843W	DDX31_uc010mzu.1_Missense_Mutation_p.R770W	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	843						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TTGCTGTCCCGCTGTACACCT	0.537000												
SURF4	6836	broad.mit.edu	37	9	136234223	136234223	+	Silent	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:136234223G>A	uc004cdj.2	-	2	277	c.147C>T	c.(145-147)AGC>AGT	p.S49S	SURF4_uc011mda.1_Silent_p.S40S|SURF4_uc010nal.2_Silent_p.S81S|SURF4_uc011mdb.1_Silent_p.S6S|SURF4_uc011mdc.1_Silent_p.S6S|SURF4_uc011mdd.1_Silent_p.S49S	NM_033161	NP_149351	O15260	SURF4_HUMAN	surfeit 4	49						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGCGCTGCTCGCTCCACTGGA	0.597000												
FCN1	2219	broad.mit.edu	37	9	137806229	137806229	+	Splice_Site	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:137806229A>G	uc004cfi.2	-	4	399	c.307_splice	c.e4+1	p.G103_splice		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor						opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CGGGTGGCTCACCTTTCTCTC	0.622000												
FCN1	2219	broad.mit.edu	37	9	137809680	137809680	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:137809680G>T	uc004cfi.2	-	1	130	c.38C>A	c.(37-39)GCT>GAT	p.A13D		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	13					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TAGCAGGACAGCGAGCCCCCG	0.582000												
OLFM1	10439	broad.mit.edu	37	9	137990338	137990338	+	Silent	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:137990338C>T	uc010nar.2	+	4	979	c.663C>T	c.(661-663)TGC>TGT	p.C221C	OLFM1_uc004cfl.3_Silent_p.C203C	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	221	Potential.				nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TCCGTGCATGCATGCAAAAAC	0.557000												
GPSM1	26086	broad.mit.edu	37	9	139229058	139229058	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:139229058G>A	uc004chd.2	+	2	443	c.223G>A	c.(223-225)GCC>ACC	p.A75T	GPSM1_uc004chc.2_Missense_Mutation_p.A75T	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1 (AGS3-like, C.	75	TPR 2.|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)		GCTGGGCAACGCCTACTTCTA	0.632000												
MAMDC4	158056	broad.mit.edu	37	9	139748339	139748339	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:139748339C>T	uc004cjs.2	+	5	615	c.565C>T	c.(565-567)CGC>TGC	p.R189C	MAMDC4_uc011mej.1_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	189	Extracellular (Potential).|MAM 1.				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GACCACAGGCCGCATCCGGGG	0.662000												
ABCA2	20	broad.mit.edu	37	9	139911565	139911565	+	Silent	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:139911565G>T	uc011mem.1	-	18	2710	c.2562C>A	c.(2560-2562)TCC>TCA	p.S854S	ABCA2_uc011mel.1_Silent_p.S855S|ABCA2_uc004ckl.1_Silent_p.S785S|ABCA2_uc004ckm.1_Silent_p.S885S|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	854					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGGCCGTCGTGGACATGAGGG	0.672000												
NOXA1	10811	broad.mit.edu	37	9	140328791	140328791	+	Silent	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:140328791C>A	uc004cmv.2	+	14	1545	c.1410C>A	c.(1408-1410)TCC>TCA	p.S470S	C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Silent_p.S477S|NOXA1_uc010nch.2_Silent_p.S421S	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	470			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity				0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		TGCCCCGATCCCAGCAGGGAG	0.632000												
ENTPD8	377841	broad.mit.edu	37	9	140330594	140330594	+	Silent	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:140330594A>G	uc004cmw.2	-	7	1105	c.921T>C	c.(919-921)GTT>GTC	p.V307V	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Silent_p.V307V	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	307	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CTGTCCCTTCAACTGTGAGGT	0.642000												
EHMT1	79813	broad.mit.edu	37	9	140729301	140729301	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:140729301C>T	uc011mfc.1	+	27	3830	c.3793C>T	c.(3793-3795)CAC>TAC	p.H1265Y	EHMT1_uc004coe.2_Missense_Mutation_p.H170Y	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1265					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAAGTGCCGGCACTCGAGCGC	0.697000												
P2RY8	286530	broad.mit.edu	37	X	1585333	1585333	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:1585333C>T	uc004cpz.2	-	2	367	c.119G>A	c.(118-120)GGC>GAC	p.G40D		NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	G-protein coupled purinergic receptor P2Y8	40	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(5)	5		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAAGAGGTTGCCCGGGATGCT	0.677000			T	CRLF2	B-ALL|Downs associated ALL							
MXRA5	25878	broad.mit.edu	37	X	3241477	3241477	+	Missense_Mutation	SNP	G	G	A	rs144303250	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:3241477G>A	uc004crg.3	-	5	2406	c.2249C>T	c.(2248-2250)TCG>TTG	p.S750L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	750						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCTTTTTCCGAATGCTTCCA	0.448000												
KLHL34	257240	broad.mit.edu	37	X	21675213	21675213	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:21675213C>T	uc004czz.1	-	1	1236	c.694G>A	c.(694-696)GTA>ATA	p.V232I		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	232	BACK.									ovary(1)	1						CGCCGCAGTACGTCGGCGGGA	0.667000												
FAM47C	442444	broad.mit.edu	37	X	37026509	37026509	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:37026509G>A	uc004ddl.1	+	1	40	c.26G>A	c.(25-27)CGG>CAG	p.R9Q		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	9										ovary(3)	3						CCGCAGGACCGGCCCAGTTCC	0.657000												
FAM47C	442444	broad.mit.edu	37	X	37027955	37027955	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:37027955C>A	uc004ddl.1	+	1	1486	c.1472C>A	c.(1471-1473)CCC>CAC	p.P491H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	491										ovary(3)	3						CCAGAGCCTCCCGACACTGGA	0.627000												
CYBB	1536	broad.mit.edu	37	X	37663304	37663304	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:37663304G>A	uc004ddr.2	+	9	1133	c.1072G>A	c.(1072-1074)GTT>ATT	p.V358I	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.V326I|CYBB_uc011mkg.1_Missense_Mutation_p.V91I	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	358	Cytoplasmic (Potential).|FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						TATCCGCATCGTTGGGGACTG	0.468000												
SRPX	8406	broad.mit.edu	37	X	38019423	38019423	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:38019423G>T	uc004ddy.1	-	7	888	c.802C>A	c.(802-804)CCA>ACA	p.P268T	SRPX_uc004ddz.1_Missense_Mutation_p.P248T|SRPX_uc011mkh.1_Missense_Mutation_p.P209T|SRPX_uc011mki.1_Missense_Mutation_p.P268T	NM_006307	NP_006298	P78539	SRPX_HUMAN	sushi-repeat-containing protein, X-linked	268	Sushi 3.				cell adhesion	cell surface|membrane					0						CCATTCTCTGGGGCATTGAGT	0.542000												
HEPH	9843	broad.mit.edu	37	X	65392355	65392355	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:65392355A>G	uc011moz.1	+	3	395	c.335A>G	c.(334-336)GAT>GGT	p.D112G	HEPH_uc004dwn.2_Missense_Mutation_p.D112G|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Missense_Mutation_p.D112G|HEPH_uc011mpa.1_Missense_Mutation_p.D112G	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	109	Extracellular (Potential).|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						GAAGTGGGGGATGTCATTCTT	0.493000												
AR	367	broad.mit.edu	37	X	66765796	66765796	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:66765796G>A	uc004dwu.1	+	1	1923	c.808G>A	c.(808-810)GCC>ACC	p.A270T	AR_uc011mpd.1_Missense_Mutation_p.A270T|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.A270T	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	268	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TTGCATGTACGCCCCACTTTT	0.597000									Androgen_Insensitivity_Syndrome			
P2RY10	27334	broad.mit.edu	37	X	78216864	78216864	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:78216864G>A	uc004ede.2	+	4	1216	c.847G>A	c.(847-849)GCA>ACA	p.A283T	P2RY10_uc004edf.2_Missense_Mutation_p.A283T	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	283	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						TGTCCGAATCGCACTGTATTT	0.413000												
CYLC1	1538	broad.mit.edu	37	X	83126520	83126520	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:83126520C>T	uc004eei.1	+	3	140	c.119C>T	c.(118-120)CCA>CTA	p.P40L	CYLC1_uc004eeh.1_Missense_Mutation_p.P39L	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	40					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						TTTCCCAAACCACTCCAGAGA	0.303000												
POF1B	79983	broad.mit.edu	37	X	84559359	84559359	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:84559359C>T	uc004eer.2	-	14	1702	c.1556G>A	c.(1555-1557)CGT>CAT	p.R519H	POF1B_uc004ees.2_Missense_Mutation_p.R519H	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	519							actin binding				0						CTCTGACTGACGCTTTATGAG	0.398000												
DRP2	1821	broad.mit.edu	37	X	100505520	100505520	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:100505520C>T	uc004egz.2	+	15	2018	c.1649C>T	c.(1648-1650)GCC>GTC	p.A550V	DRP2_uc011mrh.1_Missense_Mutation_p.A472V	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	550					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						GAAGTGGCAGCCTTTGGGGGC	0.483000												
GPRASP1	9737	broad.mit.edu	37	X	101912901	101912901	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:101912901G>A	uc004ejj.3	+	5	4861	c.4060G>A	c.(4060-4062)GTG>ATG	p.V1354M	GPRASP1_uc004eji.3_Missense_Mutation_p.V1354M|GPRASP1_uc010nod.2_Missense_Mutation_p.V1354M	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1354	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						AAAAGAAACAGTGTTCTCTGA	0.328000												
IRS4	8471	broad.mit.edu	37	X	107978396	107978396	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:107978396C>T	uc004eoc.2	-	1	1212	c.1179G>A	c.(1177-1179)ATG>ATA	p.M393I		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	393						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						TGGTGAAAAGCATCTCGTCTT	0.642000												
VGLL1	51442	broad.mit.edu	37	X	135630855	135630855	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:135630855G>A	uc004ezy.2	+	3	492	c.322G>A	c.(322-324)GGT>AGT	p.G108S	MIR934_hsa-mir-934|MI0005756_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	vestigial like 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity				0	Acute lymphoblastic leukemia(192;0.000127)					GCATGTGCCTGGTCCCATGGC	0.582000												
ATP11C	286410	broad.mit.edu	37	X	138856898	138856898	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:138856898G>A	uc004faz.2	-	19	2275	c.2176C>T	c.(2176-2178)CGC>TGC	p.R726C	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.R726C	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	726	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					AATTTCTTGCGATATTCTATC	0.323000												
MAGEA8	4107	broad.mit.edu	37	X	149013706	149013706	+	Silent	SNP	G	G	A	rs45518135		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:149013706G>A	uc004fdw.1	+	3	875	c.660G>A	c.(658-660)CCG>CCA	p.P220P		NM_005364	NP_005355	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	220	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GCCGCGCCCCGGAGGAGGCAA	0.572000												
ZNF185	7739	broad.mit.edu	37	X	152134007	152134007	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:152134007G>A	uc010ntv.1	+	19	1769	c.1732G>A	c.(1732-1734)GTG>ATG	p.V578M	ZNF185_uc011myg.1_Missense_Mutation_p.V610M|ZNF185_uc011myh.1_Missense_Mutation_p.V581M|ZNF185_uc011myi.1_Missense_Mutation_p.V549M|ZNF185_uc011myj.1_Missense_Mutation_p.V519M|ZNF185_uc011myk.1_Missense_Mutation_p.V579M|ZNF185_uc004fgw.3_Missense_Mutation_p.V357M|ZNF185_uc004fgu.2_Missense_Mutation_p.V207M|ZNF185_uc004fgv.2_Missense_Mutation_p.V275M|ZNF185_uc004fgx.2_Missense_Mutation_p.V216M	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	578						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GATTCTCTTCGTGAAGGAGTA	0.522000												
MAGEA1	4100	broad.mit.edu	37	X	152482678	152482678	+	Silent	SNP	A	A	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:152482678A>C	uc004fhf.2	-	3	553	c.333T>G	c.(331-333)GGT>GGG	p.G111G		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	111	MAGE.					cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCAGAAAACCAACCAAAT	0.493000												
PDZD4	57595	broad.mit.edu	37	X	153069625	153069625	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:153069625C>T	uc004fiz.1	-	8	1743	c.1493G>A	c.(1492-1494)GGC>GAC	p.G498D	PDZD4_uc004fiy.1_Missense_Mutation_p.G423D|PDZD4_uc004fix.2_Missense_Mutation_p.G402D|PDZD4_uc004fja.1_Missense_Mutation_p.G504D|PDZD4_uc011mze.1_Missense_Mutation_p.G389D	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	498						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTTGGAGTTGCCGGCCATGGC	0.716000												
OPN1LW	5956	broad.mit.edu	37	X	153421950	153421950	+	Missense_Mutation	SNP	A	A	T	rs145631912	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:153421950A>T	uc004fjz.3	+	5	959	c.926A>T	c.(925-927)TAC>TTC	p.Y309F		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	309	Helical; Name=7; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCCGGCCTACTTTGCCAAA	0.537000												
GAB3	139716	broad.mit.edu	37	X	153944504	153944504	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:153944504C>T	uc004fmj.1	-	2	221	c.173G>A	c.(172-174)CGG>CAG	p.R58Q	GAB3_uc004fmk.1_Missense_Mutation_p.R58Q|GAB3_uc010nve.1_Missense_Mutation_p.R58Q|GAB3_uc004fml.1_5'UTR	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN	Gab3 protein isoform 2	58	PH.									ovary(1)	1	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTCTATCACCCGGATGGGCTT	0.552000												
GTF3C3	9330	broad.mit.edu	37	2	197650315	197650315	+	Splice_Site	DEL	A	A	-	rs35643383		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:197650314_197650314TA>T	uc002uts.3	-	7	1051	c.894_splice	c.e7-1	p.K298_splice	GTF3C3_uc010zgu.2_Splice_Site_p.K298_splice|GTF3C3_uc002utu.3_Splice_Site_p.K298_splice|GTF3C3_uc002utt.4_Splice_Site	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	298						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TAGTAACTCCTAAAAAAAAGT	0.323												
SGOL1	151648	broad.mit.edu	37	3	20212216	20212217	+	Splice_Site	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:20212215_20212216C>CT	uc003cbu.3	-	8	1719	c.1564_splice	c.e8+1	p.R522_splice	SGOL1_uc003cbw.3_Splice_Site_p.R253_splice|SGOL1_uc003cbv.3_Splice_Site_p.R270_splice|SGOL1_uc003cbt.3_Splice_Site_p.R270_splice|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_Splice_Site_p.R522_splice|SGOL1_uc003cbr.3_Splice_Site_p.R253_splice|SGOL1_uc003ccc.3_Frame_Shift_Ins_p.S253fs|SGOL1_uc021wtx.1_Frame_Shift_Ins_p.S149fs|SGOL1_uc021wty.1_Frame_Shift_Ins_p.S132fs|SGOL1_uc003ccb.3_Frame_Shift_Ins_p.S270fs|SGOL1_uc003cca.3_Frame_Shift_Ins_p.S522fs|SGOL1_uc003cby.3_Frame_Shift_Ins_p.S253fs|SGOL1_uc003cbx.3_Frame_Shift_Ins_p.S270fs|SGOL1_uc003cbz.3_Frame_Shift_Ins_p.S522fs	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	522					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTGTTTCATACTTTTTTTAGAA	0.342												
RG9MTD1	54931	broad.mit.edu	37	3	101283606	101283619	+	Splice_Site	DEL	TTTTACAGGGGTTT	TTTTACAGGGGTTT	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:101283605_101283618CTTTTACAGGGGTTT>C	uc003duz.3	+	2	137	c.-11_splice	c.e2-1		RG9MTD1_uc021xbw.1_5'Flank	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.						tRNA processing	mitochondrion	methyltransferase activity|protein binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						CATTTTTCTTCTTTTACAGGGGTTTTGTTACATG	0.299												
POLQ	10721	broad.mit.edu	37	3	121238933	121238933	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:121238932_121238932TA>T	uc003eee.4	-	9	1385	c.1256_splice	c.e9-1	p.G419_splice		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	419	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGTAAGACCTAAAAAAAGGA	0.373								DNA polymerases (catalytic subunits)				
PRMT10	90826	broad.mit.edu	37	4	148589799	148589800	+	Splice_Site	INS	-	-	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:148589798_148589799T>TA	uc003ilc.3	-	6	989	c.847_splice	c.e6-1	p.T283_splice	PRMT10_uc003ild.3_Splice_Site_p.T170_splice	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	283						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ACCTTTGGTCTAAAAAAAATAA	0.292												
SSBP2	23635	broad.mit.edu	37	5	80769592	80769592	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:80769591_80769591TA>T	uc003khp.3	-	8	711	c.500_splice	c.e8-1	p.G167_splice	SSBP2_uc003khn.3_Splice_Site_p.G41_splice|SSBP2_uc011ctr.2_Splice_Site_p.G137_splice|SSBP2_uc003kho.3_Splice_Site_p.G167_splice|SSBP2_uc011ctp.2_Splice_Site_p.G147_splice|SSBP2_uc011ctq.2_Splice_Site_p.G137_splice	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	167	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TTGGATGTCCTAAAAAAAGTA	0.428												
RIMS1	22999	broad.mit.edu	37	6	72809676	72809678	+	Splice_Site	DEL	AGG	AGG	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:72809675_72809677AAGG>A	uc003pga.3	+	4	537	c.460_splice	c.e4-1	p.E154_splice		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	154	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	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)				TGCTTTCCCAAAGGAGGACAAAG	0.296												
ARG1	383	broad.mit.edu	37	6	131894346	131894346	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:131894345_131894345GA>G	uc003qcp.2	+	1	1	c.-78_splice	c.e1-1		ARG1_uc003qco.2_Splice_Site|ARG1_uc010kfm.2_Splice_Site	NM_000045	NP_000036	P05089	ARGI1_HUMAN	Homo sapiens arginase, liver (ARG1), transcript variant 2, mRNA.						arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	AGTATAAATGGAAAAAAAAGA	0.443												
MED23	9439	broad.mit.edu	37	6	131948626	131948626	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:131948625_131948625TA>T	uc003qcs.1	-	3	246	c.72_splice	c.e3-1	p.G24_splice	ENPP3_uc010kfn.1_5'Flank|ENPP3_uc003qcu.4_5'Flank|MED23_uc003qcq.3_Splice_Site_p.G24_splice|MED23_uc003qct.1_Splice_Site_p.G24_splice|MED23_uc011ecb.1_Splice_Site	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	24					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATAAACATGCTAAAAAAATAA	0.348												
ETV1	2115	broad.mit.edu	37	7	14026313	14026313	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:14026312_14026312TA>T	uc021zzz.1	-	3	221	c.134_splice	c.e3-1	p.E45_splice	ETV1_uc021zzt.1_5'Flank|ETV1_uc021zzu.1_5'Flank|ETV1_uc021zzv.1_5'Flank|ETV1_uc021zzw.1_5'Flank|ETV1_uc021zzx.1_5'Flank|ETV1_uc021zzy.1_5'Flank|ETV1_uc022aaa.1_Splice_Site_p.E45_splice|ETV1_uc022aab.1_Splice_Site_p.E45_splice|ETV1_uc003ssw.4_Splice_Site_p.E45_splice|ETV1_uc003ssx.3_Splice_Site|ETV1_uc022aac.1_Splice_Site_p.E45_splice|ETV1_uc022aad.1_Splice_Site_p.E45_splice|ETV1_uc010ktv.3_5'Flank	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	45					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAAAGAGTTCTAAAAAACAAG	0.289			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""							
BAG1	573	broad.mit.edu	37	9	33261170	33261170	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:33261169_33261169TA>T	uc003zsj.3	-	3	668	c.581_splice	c.e3-1	p.G194_splice	BAG1_uc003zsi.3_Splice_Site_p.G56_splice	NM_001172415	NP_001165886	Q99933	BAG1_HUMAN	Homo sapiens BCL2-associated athanogene (BAG1), transcript variant 1, mRNA.	194	Interaction with HSPA8.|Ubiquitin-like.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			GAGATTTTCCTAAAAAGAGGA	0.373												
ZFP91	80829	broad.mit.edu	37	11	58377810	58377810	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:58377809_58377809TA>T	uc001nmx.4	+	4	785	c.617_splice	c.e4+2	p.S206_splice	ZFP91_uc001nmy.4_Splice_Site_p.S206_splice|CNTF_uc010rkm.2_Splice_Site	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	206	Glu-rich.			Missing (in Ref. 4; AAH51743).	activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGGCATTAGGTAAAAAAAACA	0.313												
EHD1	10938	broad.mit.edu	37	11	64627811	64627811	+	Splice_Site	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:64627810_64627810TG>T	uc010rnq.1	-	4	592	c.545_splice	c.e4-1	p.G182_splice	EHD1_uc001obu.1_Splice_Site_p.G168_splice|EHD1_uc001obv.1_Splice_Site_p.G168_splice	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	168				ERV -> DCW (in Ref. 2; AAD45866).	blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AGTCATAGCCTGGGGGGAAGA	0.582												
DDX6	1656	broad.mit.edu	37	11	118629614	118629615	+	Splice_Site	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL							
TM7SF3	51768	broad.mit.edu	37	12	27135795	27135795	+	Splice_Site	DEL	A	A	-	rs34653193	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:27135794_27135794TA>T	uc010sjl.2	-	7	1107	c.869_splice	c.e7-1	p.G290_splice		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	290						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ACACTCTTCCTAAAAAATAAT	0.318												
APPL2	55198	broad.mit.edu	37	12	105570797	105570798	+	Splice_Site	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:105570796_105570797T>TG	uc010swu.1	-	19	1908	c.1690_splice	c.e19-1	p.F564_splice	APPL2_uc010swt.2_Splice_Site_p.F515_splice|APPL2_uc001tlf.1_Splice_Site_p.F558_splice|APPL2_uc001tlg.1_Splice_Site_p.F312_splice	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	558	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAGTTCAAACTGGGGGGTGGAA	0.401												
UGGT2	55757	broad.mit.edu	37	13	96579593	96579593	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:96579592_96579592TA>T	uc001vmt.3	-	18	2148	c.1978_splice	c.e18-1	p.G660_splice		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	660					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TAATGTGCCCTAAAAAAACAA	0.289												
VPS13C	54832	broad.mit.edu	37	15	62257063	62257063	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:62257062_62257062TA>T	uc002agz.3	-	31	3143	c.3052_splice	c.e31-1	p.V1018_splice	VPS13C_uc002aha.3_Splice_Site_p.V975_splice|VPS13C_uc002ahb.2_Splice_Site_p.V1018_splice|VPS13C_uc002ahc.2_Splice_Site_p.V975_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1018					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAAGGCCACCTAAAAATGTTT	0.373												
DOCK7	85440	broad.mit.edu	37	1	62979269	62979269	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:62979269delT	uc001daq.2	-	33	4162	c.4128delA	c.(4126-4128)AAAfs	p.K1376fs	DOCK7_uc001dan.2_Frame_Shift_Del_p.K1237fs|DOCK7_uc001dao.2_Frame_Shift_Del_p.K1237fs|DOCK7_uc001dap.2_Frame_Shift_Del_p.K1345fs|DOCK7_uc001dam.2_Frame_Shift_Del_p.K556fs|DOCK7_uc010oov.1_Frame_Shift_Del_p.K115fs	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1376					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						GTTCAAACACTTTTTTCCCCT	0.348												
HIST2H2AC	8338	broad.mit.edu	37	1	149858742	149858744	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:149858742_149858744delACA	uc001etd.2	+	1	218_220	c.218_220delACA	c.(217-222)GACAAC>GAC	p.N74del	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	74					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGGCTCGGGACAACAAGAAGAC	0.675												
SETDB1	9869	broad.mit.edu	37	1	150933382	150933382	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:150933382delC	uc001evu.2	+	16	3034	c.2844delC	c.(2842-2844)CACfs	p.H948fs	SETDB1_uc001evv.2_Frame_Shift_Del_p.H948fs|SETDB1_uc009wmg.1_Frame_Shift_Del_p.H948fs	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	948	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGACTCCCACCCCCCAGATC	0.572												
PTPN7	5778	broad.mit.edu	37	1	202128510	202128510	+	Frame_Shift_Del	DEL	C	C	-	rs144275491		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:202128510delC	uc001gxm.1	-	2	152	c.21delG	c.(19-21)GGGfs	p.G7fs	PTPN7_uc001gxl.1_Frame_Shift_Del_p.G46fs|PTPN7_uc001gxn.1_Frame_Shift_Del_p.G7fs|PTPN7_uc010ppv.1_5'UTR|PTPN7_uc010ppw.1_5'UTR|PTPN7_uc010ppx.1_Frame_Shift_Del_p.G81fs|PTPN7_uc010ppy.1_RNA|PTPN7_uc001gxo.1_5'Flank	NM_002832	NP_002823	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type	7						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			skin(1)	1						CTCTGGAGCGCCCCCCATGGG	0.632												
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353												
C10orf120	399814	broad.mit.edu	37	10	124457494	124457495	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:124457494_124457495insT	uc001lgn.2	-	3	794_795	c.762_763insA	c.(760-765)AAATGTfs	p.K254fs		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	254_255										kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)				TATGTTAAACATTTTTTTGGTT	0.386												
CTNND1	1500	broad.mit.edu	37	11	57558992	57558993	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:57558992_57558993delCT	uc001nmc.3	+	3	613_614	c.42_43delCT	c.(40-45)GCCTCTfs	p.A14fs	CTNND1_uc001nlf.1_Frame_Shift_Del_p.A14fs|CTNND1_uc001nlh.1_Frame_Shift_Del_p.A14fs|CTNND1_uc001nlu.3_Intron|CTNND1_uc001nlt.3_Intron|CTNND1_uc001nls.3_Intron|CTNND1_uc001nlw.3_Intron|CTNND1_uc001nmf.3_Frame_Shift_Del_p.A14fs|CTNND1_uc001nmd.3_5'UTR|CTNND1_uc001nlk.3_5'UTR|CTNND1_uc001nme.3_Frame_Shift_Del_p.A14fs|CTNND1_uc001nll.3_5'UTR|CTNND1_uc001nmg.3_5'UTR|CTNND1_uc001nlj.3_5'UTR|CTNND1_uc001nlr.3_5'UTR|CTNND1_uc001nlp.3_5'UTR|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Frame_Shift_Del_p.A14fs|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_Intron|CTNND1_uc001nmh.3_Frame_Shift_Del_p.A14fs|CTNND1_uc001nlq.3_Intron|CTNND1_uc001nln.3_Frame_Shift_Del_p.A14fs|CTNND1_uc001nli.3_Frame_Shift_Del_p.A14fs|CTNND1_uc001nlo.3_Intron|CTNND1_uc001nlv.3_Intron	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	14_15	Potential.				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)				GCATCTTGGCCTCTGTGAAGGA	0.629												
FCHSD2	9873	broad.mit.edu	37	11	72712093	72712093	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:72712093delT	uc009ytl.2	-	5	550	c.329delA	c.(328-330)AACfs	p.N110fs	FCHSD2_uc010rrg.1_Intron|FCHSD2_uc001oth.3_Frame_Shift_Del_p.N54fs|FCHSD2_uc001oti.2_Frame_Shift_Del_p.N69fs	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	110							protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AGAAATGAAGTTTTTATAGTT	0.363												
IFFO1	25900	broad.mit.edu	37	12	6664650	6664652	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:6664650_6664652delGGA	uc001qpd.1	-	1	578_580	c.544_546delTCC	c.(544-546)TCCdel	p.S182del	IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_In_Frame_Del_p.S182del|IFFO1_uc001qpf.1_In_Frame_Del_p.S182del|IFFO1_uc001qpc.1_In_Frame_Del_p.S182del	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	182	Poly-Ser.					intermediate filament					0						AATAGGTGGTGGAGGTGGAGGTG	0.547												
OR6C70	390327	broad.mit.edu	37	12	55863619	55863619	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:55863619delA	uc010spn.1	-	1	304	c.304delT	c.(304-306)TACfs	p.Y102fs		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AAGAATATGTAAAAAAACAAC	0.393												
HSP90AA1	3320	broad.mit.edu	37	14	102551255	102551260	+	In_Frame_Del	DEL	TTCTTT	TTCTTT	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:102551255_102551260delTTCTTT	uc001yku.3	-	5	929_934	c.739_744delAAAGAA	c.(739-744)AAAGAAdel	p.KE247del	HSP90AA1_uc001ykv.3_In_Frame_Del_p.KE369del|HSP90AA1_uc001ykw.1_In_Frame_Del_p.KE68del|HSP90AA1_uc001ykx.1_In_Frame_Del_p.KE236del	NM_005348	NP_005339	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 2	247_248					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7					Rifabutin(DB00615)	ACtctttctcttctttttctttttct	0.204												
CAPN3	825	broad.mit.edu	37	15	42646646	42646646	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:42646646delA	uc010udf.1	+	1	109	c.43delA	c.(43-45)AAAfs	p.K15fs	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Frame_Shift_Del_p.K15fs|CAPN3_uc010udg.1_Frame_Shift_Del_p.K15fs	NM_212465	NP_997630	P20807	CAN3_HUMAN	calpain 3 isoform f	Error:Variant_position_missing_in_P20807_after_alignment					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TACCCAACAGAAAAATGTAAG	0.249												
CREBBP	1387	broad.mit.edu	37	16	3789629	3789629	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:3789629delA	uc002cvv.2	-	25	4434	c.4230delT	c.(4228-4230)TTTfs	p.F1410fs	CREBBP_uc002cvw.2_Frame_Shift_Del_p.F1372fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1410	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.F1410fs*49(1)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGTGCATTCCAAAAAAGCAGA	0.488			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
MYH4	4622	broad.mit.edu	37	17	10362680	10362680	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:10362680delA	uc002gmn.2	-	15	1586	c.1475delT	c.(1474-1476)TTCfs	p.F492fs	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	492	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GTGGTGGTTGAAAAACTGTTG	0.468												
SP6	80320	broad.mit.edu	37	17	45925335	45925335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:45925335delC	uc002img.1	-	2	793	c.461delG	c.(460-462)GGCfs	p.G154fs	SP6_uc002imh.1_Frame_Shift_Del_p.G154fs	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Sp6 transcription factor	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TCCGACGTAGCCCCCCAAGCC	0.711												
KLHL14	57565	broad.mit.edu	37	18	30349862	30349862	+	Frame_Shift_Del	DEL	G	G	-	rs147661052		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:30349862delG	uc002kxm.1	-	2	1081	c.693delC	c.(691-693)CCCfs	p.P231fs		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	231	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						CCGACTCCACGGGGGGCGGCA	0.642												
ZNF44	51710	broad.mit.edu	37	19	12384334	12384334	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:12384334delT	uc010xmj.1	-	5	1085	c.880delA	c.(880-882)ATAfs	p.I294fs	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Frame_Shift_Del_p.I246fs	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	294	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CCAGTGTGTATTTTTTCATGT	0.393												
ARHGAP33	115703	broad.mit.edu	37	19	36278096	36278096	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:36278096delC	uc002obs.1	+	21	2231	c.2146delC	c.(2146-2148)CCCfs	p.P716fs	ARHGAP33_uc002obt.1_Frame_Shift_Del_p.P741fs|ARHGAP33_uc010eel.2_Frame_Shift_Del_p.P465fs|ARHGAP33_uc002obv.1_Frame_Shift_Del_p.P465fs	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	764					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						ACCACTGCCACCCCCTCCCCT	0.662												
LTBP4	8425	broad.mit.edu	37	19	41132911	41132911	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:41132911delC	uc002ooh.1	+	32	4218	c.4218delC	c.(4216-4218)CGCfs	p.R1406fs	LTBP4_uc002oog.1_Frame_Shift_Del_p.R1369fs|LTBP4_uc002ooi.1_Frame_Shift_Del_p.R1339fs|LTBP4_uc002ooj.1_Frame_Shift_Del_p.R279fs|LTBP4_uc002ook.1_Frame_Shift_Del_p.R540fs|LTBP4_uc002ool.1_Frame_Shift_Del_p.R418fs|LTBP4_uc010xvp.1_Frame_Shift_Del_p.R166fs	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1406					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGTGCTACGCCCCCCCGCAT	0.632												
CIC	23152	broad.mit.edu	37	19	42796883	42796883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:42796883delC	uc002otf.1	+	14	3381	c.3341delC	c.(3340-3342)GCCfs	p.A1114fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCATCCCAGGCCCCCCCAAGC	0.682			T	DUX4	soft tissue sarcoma							
LOC728819	728819	broad.mit.edu	37	2	43903432	43903432	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:43903432delA	uc010fav.1	-	1	30	c.30delT	c.(28-30)TTTfs	p.F10fs	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.1_Intron	NM_001101330	NP_001094800			C1GALT1-specific chaperone 1-like												0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACATACCCTTAAAAAATGATG	0.517												
ATP6V1B1	525	broad.mit.edu	37	2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:71191573delC	uc002shj.2	+	12	1236	c.1149delC	c.(1147-1149)TACfs	p.Y383fs	ATP6V1B1_uc010fdv.2_Frame_Shift_Del_p.Y366fs|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	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			skin(1)	1						CTCAGATCTACCCCCCCATCA	0.547											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MGAT4A	11320	broad.mit.edu	37	2	99261956	99261956	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:99261956delT	uc002sze.2	-	9	1138	c.824delA	c.(823-825)AATfs	p.N275fs	C2orf64_uc002sza.2_RNA|MGAT4A_uc010yvm.1_Frame_Shift_Del_p.N147fs|MGAT4A_uc010fil.2_Frame_Shift_Del_p.N29fs	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	alpha-1,3-mannosyl-glycoprotein	275	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1						AAGTGCAAAATTTTTTATGGT	0.294												
TTN	7273	broad.mit.edu	37	2	179505993	179505993	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:179505993delT	uc010zfg.1	-	169	33128	c.32904delA	c.(32902-32904)AAAfs	p.K10968fs	TTN_uc010zfh.1_Frame_Shift_Del_p.K4663fs|TTN_uc010zfi.1_Frame_Shift_Del_p.K4596fs|TTN_uc010zfj.1_Frame_Shift_Del_p.K4471fs|TTN_uc010fre.1_Frame_Shift_Del_p.K846fs|TTN_uc002umw.1_Intron|TTN_uc002umx.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11895							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)			CTTTTTCTAGTTTTTTAGGTT	0.284												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:114058003delG	uc003ebi.2	-	5	2255	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P619fs	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632												
SEMA5B	54437	broad.mit.edu	37	3	122631702	122631702	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:122631702delG	uc003efz.1	-	18	3017	c.2713delC	c.(2713-2715)CAGfs	p.Q905fs	SEMA5B_uc011bju.1_Frame_Shift_Del_p.Q847fs|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Frame_Shift_Del_p.Q905fs|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	905	Extracellular (Potential).|TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GGGCAAGCCTGGGGGTTGCAG	0.677												
CCDC39	339829	broad.mit.edu	37	3	180337133	180337133	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:180337133delT	uc010hxe.2	-	16	2294	c.2179delA	c.(2179-2181)ATTfs	p.I727fs	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	727	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTAGTTGAATTTTTAGCTCA	0.289												
IGFBP7	3490	broad.mit.edu	37	4	57907077	57907077	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:57907077delG	uc003hcn.2	-	2	520	c.498delC	c.(496-498)CCCfs	p.P166fs	IGFBP7_uc011cag.1_Frame_Shift_Del_p.P166fs	NM_001553	NP_001544	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	166	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			lung(2)|central_nervous_system(1)	3	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGATGTCCTTGGGGGGCGTCA	0.507												
FSTL4	23105	broad.mit.edu	37	5	132534817	132534817	+	Frame_Shift_Del	DEL	C	C	-	rs140495211		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:132534817delC	uc003kyn.1	-	16	2717	c.2499delG	c.(2497-2499)GGGfs	p.G833fs	FSTL4_uc003kym.1_Frame_Shift_Del_p.G482fs	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	833						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)			CCACTGTGGTCCCCCCCTTTA	0.582												
CCDC99	54908	broad.mit.edu	37	5	169021159	169021161	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:169021159_169021161delAAG	uc003mae.3	+	5	821_823	c.542_544delAAG	c.(541-546)AAAGAA>AAA	p.E183del	CCDC99_uc010jjj.2_In_Frame_Del_p.E112del|CCDC99_uc011deq.1_Intron|CCDC99_uc010jjk.2_Intron	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	183	Potential.				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCACCCTCAAAGAAGAAGTGAA	0.399												
DEFB113	245927	broad.mit.edu	37	6	49936566	49936566	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:49936566delT	uc011dwq.1	-	2	73	c.73delA	c.(73-75)ACAfs	p.T25fs		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	beta-defensin 113 precursor	25					defense response to bacterium	extracellular region					0	Lung NSC(77;0.042)					ACTTCTCTTGTTTTTTTCTGT	0.353												
DBF4	10926	broad.mit.edu	37	7	87507389	87507389	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:87507389delA	uc003ujf.1	+	2	572	c.68delA	c.(67-69)GAAfs	p.E23fs	SLC25A40_uc003uje.2_5'Flank|DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	23					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GTCAAAAATGAAAAAAACAGA	0.299												
DYNC1I1	1780	broad.mit.edu	37	7	95614280	95614280	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:95614280delA	uc003uoc.3	+	8	1062	c.785delA	c.(784-786)GAAfs	p.E262fs	DYNC1I1_uc003uod.3_Frame_Shift_Del_p.E245fs|DYNC1I1_uc003uob.2_Frame_Shift_Del_p.E225fs|DYNC1I1_uc003uoe.3_Frame_Shift_Del_p.E242fs|DYNC1I1_uc010lfl.2_Frame_Shift_Del_p.E251fs	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	262					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GAGTTAGAGGAAAAAGATGGG	0.358												
DLGAP2	9228	broad.mit.edu	37	8	1497007	1497007	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:1497007delG	uc003wpl.2	+	2	245	c.148delG	c.(148-150)GGGfs	p.G50fs	DLGAP2_uc003wpm.2_Frame_Shift_Del_p.G50fs	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	129					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAGCTGCCCCGGGGGGCGCCA	0.751												
BIN3	55909	broad.mit.edu	37	8	22487477	22487477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:22487477delT	uc003xcl.2	-	6	435	c.338delA	c.(337-339)AAGfs	p.K113fs	BIN3_uc003xck.2_Frame_Shift_Del_p.K65fs|BIN3_uc010ltw.2_Frame_Shift_Del_p.K59fs	NM_018688	NP_061158	Q9NQY0	BIN3_HUMAN	bridging integrator 3	113	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity				0		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ATTTACTCACTTTTTTAAGGG	0.532												
E2F5	1875	broad.mit.edu	37	8	86089786	86089786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:86089786delC	uc003ycz.3	+	1	168	c.131delC	c.(130-132)GCCfs	p.A44fs	E2F5_uc003yda.3_Frame_Shift_Del_p.A44fs	NM_001951	NP_001942	Q15329	E2F5_HUMAN	E2F transcription factor 5 isoform 1	44					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1						cTCGGGGGCGCCGGGGGCGGC	0.493												
PARP10	84875	broad.mit.edu	37	8	145059434	145059434	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:145059434delG	uc003zal.3	-	5	844	c.736delC	c.(736-738)CACfs	p.H246fs	PARP10_uc003zak.3_5'UTR|PARP10_uc011lku.1_Frame_Shift_Del_p.H258fs|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Frame_Shift_Del_p.H246fs|PARP10_uc010mfn.1_Frame_Shift_Del_p.H161fs|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	246						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)			atgtcgtagtgggggacaagg	0.294												
C9orf173	441476	broad.mit.edu	37	9	140146299	140146300	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:140146299_140146300insC	uc004cmk.1	+	2	229_230	c.217_218insC	c.(217-219)ACCfs	p.T73fs	C9orf173_uc004cmj.1_Frame_Shift_Ins_p.T74fs|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_RNA|C9orf173_uc011mev.1_Frame_Shift_Ins_p.T73fs|C9orf173_uc004cml.1_Frame_Shift_Ins_p.T73fs			Q8N7X2	CI173_HUMAN	SubName: Full=LOC441476 protein;	74										pancreas(1)	1						ACAGACGGGCACCCCCCAGGAG	0.634												
MXRA5	25878	broad.mit.edu	37	X	3241263	3241263	+	Frame_Shift_Del	DEL	A	A	-	rs138847281		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:3241263delA	uc004crg.3	-	5	2620	c.2463delT	c.(2461-2463)TTTfs	p.F821fs		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	821						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAATAGCAGGAAAAGGTGGTG	0.483												
TMEM47	83604	broad.mit.edu	37	X	34648479	34648479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:34648479delC	uc004ddh.2	-	3	756	c.497delG	c.(496-498)GGTfs	p.G166fs	TMEM47_uc010ngs.2_RNA	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	166	Helical; (Potential).					integral to membrane				lung(1)	1						AAGGATGGCACCCCCAAACGA	0.413												
FOXO4	4303	broad.mit.edu	37	X	70321277	70321277	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:70321277delG	uc004dys.1	+	2	1550	c.1197delG	c.(1195-1197)CTGfs	p.L399fs	FOXO4_uc010nkz.2_Intron|FOXO4_uc004dyt.1_Frame_Shift_Del_p.L344fs	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	399					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					TTCTGTTGCTGGGGGGGCTTC	0.632												
RNF128	79589	broad.mit.edu	37	X	105937331	105937332	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:105937331_105937332delTG	uc004emk.2	+	1	264_265	c.99_100delTG	c.(97-102)ACTGTGfs	p.T33fs		NM_024539	NP_078815	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment_49						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						CCTATGTGACTGTGACTTATTA	0.381												
RHOXF2B	727940	broad.mit.edu	37	X	119293217	119293217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	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												
FRMD7	90167	broad.mit.edu	37	X	131212732	131212733	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:131212732_131212733insA	uc004ewn.2	-	12	1490_1491	c.1312_1313insT	c.(1312-1314)TCAfs	p.S438fs	FRMD7_uc011muy.1_Frame_Shift_Ins_p.S423fs	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	438					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)					ACTCCTCTCTGAAAAAATGTCT	0.436												
KIAA1751	85452	broad.mit.edu	37	1	1887262	1887262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:1887261_1887261CT>C	uc001aim.1	-	17	2201	c.2045_2045AG>G	c.(2044-2046)agcfs	p.S682fs	KIAA1751_uc009vkz.1_Frame_Shift_Del_p.S682fs	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	682										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GTCATACAAGCTTTTATCTTC	0.567												
GPR157	80045	broad.mit.edu	37	1	9171541	9171541	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:9171540_9171540AC>A	uc001apq.1	-	1	535	c.392_392GT>T	c.(391-393)gtcfs	p.V131fs	GPR157_uc010oad.1_Frame_Shift_Del_p.V131fs|GPR157_uc001apr.3_Frame_Shift_Del_p.V131fs	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	Homo sapiens G protein-coupled receptor 157 (GPR157), mRNA.	131						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		GACCAACGGGACCCCCCAGCT	0.612											OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CLSTN1	22883	broad.mit.edu	37	1	9809959	9809959	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:9809958_9809958GT>G	uc001aqh.3	-	5	1422	c.663_663AC>C	c.(661-663)aacfs	p.N221fs	CLSTN1_uc001aqi.3_Frame_Shift_Del_p.N211fs|CLSTN1_uc010oag.2_Frame_Shift_Del_p.N221fs	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	221	Cadherin 2.				homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	p.N221fs*5(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ATTTCTCTGTGTTTTTTATAT	0.403												
ALDH4A1	8659	broad.mit.edu	37	1	19200969	19200969	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:19200968_19200968GC>G	uc001bbb.3	-	13	1844	c.1568_1568GC>C	c.(1567-1569)gccfs	p.A523fs	ALDH4A1_uc010ocu.2_Frame_Shift_Del_p.A463fs|ALDH4A1_uc001bbc.3_Frame_Shift_Del_p.A523fs|ALDH4A1_uc021ohl.1_Frame_Shift_Del_p.A472fs	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	523					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AGAGGCTCGGGCCCCCCCAAA	0.597												
UBR4	23352	broad.mit.edu	37	1	19467923	19467923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:19467922_19467922TG>T	uc001bbi.3	-	56	8411	c.8407_8407CA>A	c.(8407-8409)atgfs	p.M2803fs	UBR4_uc001bbk.1_Frame_Shift_Del_p.M485fs	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2803					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGTCCAGCATGGGGGGGAAG	0.587												
ZBTB40	9923	broad.mit.edu	37	1	22817981	22817982	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:22817980_22817981T>TA	uc001bft.2	+	3	1296_1297	c.785_786T>TA	c.(784-786)ttafs	p.L262fs	ZBTB40_uc001bfu.2_Frame_Shift_Ins_p.L262fs|ZBTB40_uc009vqi.1_Frame_Shift_Ins_p.L262fs	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	262					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGGATGTTTTAAAAAAACTAG	0.381												
ARID1A	8289	broad.mit.edu	37	1	27057937	27057937	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:27057936_27057936GC>G	uc001bmv.1	+	2	2017	c.1644_1644GC>G	c.(1642-1644)cagfs	p.Q548fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q548fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q548fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q165fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	548					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y551fs*72(1)|p.Q548*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCAGAGCCAGCCCCCCTACT	0.647			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
ARID1A	8289	broad.mit.edu	37	1	27100176	27100176	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:27100175_27100175AC>A	uc001bmv.1	+	15	4344	c.3971_3971AC>A	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Y1323fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Y1324fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Y941fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Y170fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1324					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y1324fs*1(2)|p.Y1324*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTAGCCGCTACCCCCCgcag	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
XKR8	55113	broad.mit.edu	37	1	28293415	28293417	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:28293414_28293416TCTC>T	uc001bph.1	+	2	968_970	c.891_893TCTC>T	c.(889-894)attctc>atTc	p.L299del		NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 8 (XKR8), mRNA.	299						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GTGACAGCATTCTCCTGGTGGCC	0.631												
PHACTR4	65979	broad.mit.edu	37	1	28819557	28819557	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:28819556_28819556TA>T	uc001bpy.3	+	11	2311	c.2076_2076TA>T	c.(2074-2076)tttfs	p.F692fs	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Frame_Shift_Del_p.F682fs|PHACTR4_uc001bpx.3_Frame_Shift_Del_p.F666fs	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	682							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TAAATGAATTTAAAAGCTCCG	0.378												
DEM1	64789	broad.mit.edu	37	1	40980783	40980783	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:40980782_40980782AG>A	uc001cfp.3	+	2	771	c.566_566AG>A	c.(565-567)aagfs	p.K189fs	DEM1_uc001cfq.3_Frame_Shift_Del_p.K189fs|DEM1_uc001cfr.3_Frame_Shift_Del_p.K189fs|DEM1_uc021omb.1_Frame_Shift_Del_p.K189fs	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	189							DNA binding|exonuclease activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						TATACAGCCAAGGGGGAACTG	0.517												
MAGI3	260425	broad.mit.edu	37	1	114225581	114225581	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:114225580_114225580AC>A	uc001edk.3	+	20	3571	c.3390_3390AC>A	c.(3388-3390)ttafs	p.L1130fs	MAGI3_uc001edi.4_3'UTR|MAGI3_uc010owm.2_3'UTR|MAGI3_uc001edj.3_3'UTR|MAGI3_uc009wgo.3_Non-coding_Transcript	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1155					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		AGTCACCATTACCCCCATCTT	0.328												
ITGA10	8515	broad.mit.edu	37	1	145527708	145527709	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:145527707_145527708T>TG	uc001eoa.3	+	1	223_224	c.147_148T>TG	c.(145-150)gttgggfs	p.V49fs	ITGA10_uc001enz.1_Frame_Shift_Ins_p.V49fs|ITGA10_uc010oyv.2_Frame_Shift_Ins_p.L24fs|ITGA10_uc009wiw.3_Intron|ITGA10_uc010oyw.2_5'Flank	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	49					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACAACATGTTGGGGGTGGACA	0.525												
S100A2	6273	broad.mit.edu	37	1	153536254	153536255	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:153536253_153536254T>TC	uc001fcb.3	-	1	435_436	c.97_98A>GA	c.(97-99)gaafs	p.E33fs		NM_005978	NP_005969	P29034	S10A2_HUMAN	Homo sapiens S100 calcium binding protein A2 (S100A2), mRNA.	34	EF-hand 1.				endothelial cell migration		calcium ion binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCCTTCATTTCCCCCTTACTC	0.574												
GBA	2629	broad.mit.edu	37	1	155209817	155209818	+	Frame_Shift_Ins	INS	-	-	AC	rs145773486		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:155209816_155209817G>GAC	uc001fjh.3	-	2	333_334	c.167_168C>GTC	c.(166-168)gtcfs	p.V56fs	GBA_uc021pau.1_5'Flank|GBA_uc010pfx.2_Frame_Shift_Ins_p.V56fs|GBA_uc010pfw.2_Intron|GBA_uc001fjl.3_Frame_Shift_Ins_p.V56fs|GBA_uc001fjk.3_Frame_Shift_Ins_p.V56fs|GBA_uc010pfy.2_5'UTR|GBA_uc009wqk.2_Intron	NM_000157	NP_001165282	P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA.	56					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		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)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TGGCATTGCAGACACACACCAC	0.584									Gaucher disease type I			
GON4L	54856	broad.mit.edu	37	1	155823172	155823172	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:155823171_155823171AT>A	uc001flz.2	-	1	498	c.401_401AT>T	c.(400-402)atgfs	p.M134fs	GON4L_uc001fly.1_Frame_Shift_Del_p.M134fs|GON4L_uc009wrh.1_Frame_Shift_Del_p.M134fs|GON4L_uc001fma.1_Frame_Shift_Del_p.M134fs|GON4L_uc001fmc.3_Frame_Shift_Del_p.M134fs|GON4L_uc001fmd.4_Frame_Shift_Del_p.M134fs|GON4L_uc009wri.3_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	134					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.K133K(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTGAGTGTCATTTTTTTCCC	0.458												
FCRL3	115352	broad.mit.edu	37	1	157666960	157666961	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:157666959_157666960C>CT	uc001fqz.4	-	5	1106_1107	c.814_815G>AG	c.(814-816)aggfs	p.R272fs	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Frame_Shift_Ins_p.R272fs|FCRL3_uc001frc.1_Frame_Shift_Ins_p.R272fs	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	272						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTCAGGCTCCTTTTTTTGATG	0.545												
CD5L	922	broad.mit.edu	37	1	157805637	157805638	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:157805636_157805637G>GC	uc001frk.4	-	2	507_508	c.364_365C>GC	c.(364-366)gcafs	p.A122fs		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	122	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCACACGATGCCCCAGCATCT	0.505												
OR10T2	128360	broad.mit.edu	37	1	158368943	158368943	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:158368942_158368942GA>G	uc010pih.2	-	0	315	c.315_315TC>C	c.(313-315)ttcfs	p.F105fs		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAAAGCCAAGGAAAAAGAACA	0.498												
PPOX	5498	broad.mit.edu	37	1	161140288	161140288	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:161140287_161140287GC>G	uc001fyj.2	+	9	1366	c.1076_1076GC>G	c.(1075-1077)agcfs	p.S359fs	PPOX_uc001fyg.2_Frame_Shift_Del_p.S359fs|PPOX_uc010pkg.1_Frame_Shift_Del_p.S197fs|PPOX_uc001fyi.2_Frame_Shift_Del_p.S197fs|PPOX_uc010pkh.1_Frame_Shift_Del_p.S104fs	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	359					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGACGGGAGCCCCCCTGGC	0.547												
HHIPL2	79802	broad.mit.edu	37	1	222721257	222721257	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:222721256_222721256TG>T	uc001hnh.1	-	0	189	c.131_131CA>A	c.(130-132)cagfs	p.Q44fs		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	44					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ATCCAGGCACTGGGGGTGTCC	0.612												
EXO1	9156	broad.mit.edu	37	1	242045292	242045292	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr1:242045291_242045291CA>C	uc021plj.1	+	11	2497	c.2183_2183CA>C	c.(2182-2184)tcafs	p.S728fs	EXO1_uc001hzh.3_Frame_Shift_Del_p.S728fs|EXO1_uc009xgq.3_Frame_Shift_Del_p.S727fs|EXO1_uc021plk.1_Frame_Shift_Del_p.S728fs	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	728	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TCTCATTTCTCAAAAAAAGAC	0.318								Editing and processing nucleases				
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:10917818_10917819C>CAG	uc002ras.3	+	10	1042_1043	c.933_934C>CAG	c.(931-936)gacagafs	p.D311fs	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	311					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGCAGACCGACAGAGAGAGAGA	0.609												
NCOA1	8648	broad.mit.edu	37	2	24975018	24975020	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:24975017_24975019AAAC>A	uc002rfk.3	+	17	4132_4134	c.3873_3875AAAC>A	c.(3871-3876)ggaaac>ggAc	p.N1294del	NCOA1_uc010eye.3_In_Frame_Del_p.N1294del|NCOA1_uc002rfi.3_In_Frame_Del_p.N1143del|NCOA1_uc002rfj.3_In_Frame_Del_p.N1294del|NCOA1_uc002rfl.3_In_Frame_Del_p.N1294del|NCOA1_uc010eyf.3_In_Frame_Del_p.N187del	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1294									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCGATAGGAAACAACAAGTAA	0.463			T	PAX3	alveolar rhadomyosarcoma							
MSH6	2956	broad.mit.edu	37	2	48030640	48030641	+	Frame_Shift_Ins	INS	-	-	C	rs63749866		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:48030639_48030640A>AC	uc002rwd.4	+	4	3405_3406	c.3253_3254A>AC	c.(3253-3255)accfs	p.T1085fs	MSH6_uc010fbj.3_Frame_Shift_Ins_p.T783fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.T783fs	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1085					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.F1088fs*5(1)|p.F1088fs*2(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCGGAAGATACCCCCCCCTTC	0.436			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome			
NEB	4703	broad.mit.edu	37	2	152520210	152520210	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:152520209_152520209CG>C	uc021vrb.1	-	42	5645	c.5616_5616CG>G	c.(5614-5616)ccgfs	p.P1872fs	NEB_uc002txu.3_Frame_Shift_Del_p.P1872fs|NEB_uc021vrc.1_Frame_Shift_Del_p.P1872fs|NEB_uc010fnx.3_Frame_Shift_Del_p.P1872fs|NEB_uc021vrd.1_Frame_Shift_Del_p.P1872fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1872					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCATGTCCACCGGGGTGTGGA	0.522												
ERMN	57471	broad.mit.edu	37	2	158178062	158178063	+	In_Frame_Ins	INS	-	-	ATC			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:158178061_158178062T>TATC	uc002tzi.3	-	3	770_771	c.615_616A>GATA	c.(613-618)gataat>gaGATAat	p.205_206DN>EI	ERMN_uc010zcj.2_In_Frame_Ins_p.86_87DN>EI|ERMN_uc002tzh.3_In_Frame_Ins_p.192_193DN>EI|ERMN_uc010zck.2_In_Frame_Ins_p.172_173DN>EI	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA.	192						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						ttattgcaattatcatcatcat	0.371												
SPEG	10290	broad.mit.edu	37	2	220352920	220352920	+	Frame_Shift_Del	DEL	C	C	-	rs35286120		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:220352919_220352919TC>T	uc010fwg.3	+	31	7745	c.7745_7745TC>T	c.(7744-7746)ttcfs	p.F2582fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2582					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)		CCTCCAGACTTCCCCCCAGTC	0.612												
TRIP12	9320	broad.mit.edu	37	2	230655860	230655860	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:230655859_230655859CT>C	uc002vpx.1	-	29	4552	c.4443_4443AG>G	c.(4441-4443)aagfs	p.K1481fs	TRIP12_uc021vxw.1_Frame_Shift_Del_p.K1466fs|TRIP12_uc002vpy.1_Frame_Shift_Del_p.K1163fs|TRIP12_uc002vpw.1_Frame_Shift_Del_p.K1433fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1433					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ACTCATCATGCTTTTTTGCAT	0.403												
HJURP	55355	broad.mit.edu	37	2	234750577	234750579	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr2:234750576_234750578AGAT>A	uc002vvg.3	-	7	914_916	c.848_850ATCT>T	c.(847-852)atctcc>aTcc	p.S284del	HJURP_uc010znd.2_In_Frame_Del_p.S223del|HJURP_uc010zne.2_In_Frame_Del_p.S192del	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	284					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GTTTTGGTGGAGATGATGCTTGA	0.468												
SATB1	6304	broad.mit.edu	37	3	18390730	18390730	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:18390729_18390729GA>G	uc003cbh.3	-	10	3960	c.2225_2225TC>C	c.(2224-2226)tcafs	p.S742fs	SATB1_uc003cbi.3_Frame_Shift_Del_p.S774fs|SATB1_uc003cbj.3_Frame_Shift_Del_p.S742fs	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	742					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TAGTTTCACTGAAAAAAGGGT	0.383												
SGOL1	151648	broad.mit.edu	37	3	20212216	20212217	+	Splice_Site	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:20212215_20212216C>CT	uc003cbu.3	-	8	1719	c.1564_splice	c.e8+1	p.R522_splice	SGOL1_uc003cbw.3_Splice_Site_p.R253_splice|SGOL1_uc003cbv.3_Splice_Site_p.R270_splice|SGOL1_uc003cbt.3_Splice_Site_p.R270_splice|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_Splice_Site_p.R522_splice|SGOL1_uc003cbr.3_Splice_Site_p.R253_splice|SGOL1_uc003ccc.3_Frame_Shift_Ins_p.S253fs|SGOL1_uc021wtx.1_Frame_Shift_Ins_p.S149fs|SGOL1_uc021wty.1_Frame_Shift_Ins_p.S132fs|SGOL1_uc003ccb.3_Frame_Shift_Ins_p.S270fs|SGOL1_uc003cca.3_Frame_Shift_Ins_p.S522fs|SGOL1_uc003cby.3_Frame_Shift_Ins_p.S253fs|SGOL1_uc003cbx.3_Frame_Shift_Ins_p.S270fs|SGOL1_uc003cbz.3_Frame_Shift_Ins_p.S522fs	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	522					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTGTTTCATACTTTTTTTAGAA	0.342												
CDC25A	993	broad.mit.edu	37	3	48200922	48200923	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:48200921_48200922A>ATC	uc003csh.1	-	13	1710_1711	c.1346_1347T>GAT	c.(1345-1347)gatfs	p.D449fs	CDC25A_uc003csi.1_Frame_Shift_Ins_p.D409fs|CDC25A_uc021wxk.1_Frame_Shift_Ins_p.D408fs	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	449	Rhodanese.				DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TACCCAGGCGATCTCTCTCTCT	0.515												
PBRM1	55193	broad.mit.edu	37	3	52613112	52613113	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:52613111_52613112GAC>G	uc003des.2	-	20	3503_3504	c.3491_3492GTC>C	c.(3490-3492)gtcfs	p.V1164fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.V1164fs|PBRM1_uc003der.2_Frame_Shift_Del_p.V1132fs|PBRM1_uc003det.2_Frame_Shift_Del_p.V1179fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.V1179fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.V1164fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.V1139fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.V1139fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.V1163fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1164	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACTTGATGAAGACACAGTCGCC	0.480			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""							
FLNB	2317	broad.mit.edu	37	3	58118575	58118576	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:58118574_58118575G>GCA	uc003djj.2	+	25	4595_4596	c.4430_4431G>GCA	c.(4429-4431)ggcfs	p.G1477fs	FLNB_uc010hne.2_Frame_Shift_Ins_p.G1508fs|FLNB_uc003djk.2_Frame_Shift_Ins_p.G1477fs|FLNB_uc010hnf.2_Frame_Shift_Ins_p.G1477fs|FLNB_uc003djl.2_Frame_Shift_Ins_p.G1308fs|FLNB_uc003djm.2_Frame_Shift_Ins_p.G1308fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1477	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AATGGAGATGGCACACACACAG	0.520												
ADAMTS9	56999	broad.mit.edu	37	3	64619547	64619547	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:64619546_64619546AT>A	uc003dmg.3	-	12	1898	c.1866_1866AT>T	c.(1864-1866)aatfs	p.N622fs	ADAMTS9_uc011bfo.2_Frame_Shift_Del_p.N594fs|ADAMTS9_uc003dmh.1_Frame_Shift_Del_p.N451fs|ADAMTS9_uc003dmk.1_Frame_Shift_Del_p.N622fs	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	622	TSP type-1 1.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATTTTCCACCATTTTTTGGTC	0.408												
RG9MTD1	54931	broad.mit.edu	37	3	101283606	101283619	+	Splice_Site	DEL	TTTTACAGGGGTTT	TTTTACAGGGGTTT	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:101283605_101283618CTTTTACAGGGGTTT>C	uc003duz.3	+	2	137	c.-11_splice	c.e2-1		RG9MTD1_uc021xbw.1_5'Flank	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.						tRNA processing	mitochondrion	methyltransferase activity|protein binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						CATTTTTCTTCTTTTACAGGGGTTTTGTTACATG	0.299												
POLQ	10721	broad.mit.edu	37	3	121238933	121238933	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:121238932_121238932TA>T	uc003eee.4	-	9	1385	c.1256_splice	c.e9-1	p.G419_splice		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	419	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGTAAGACCTAAAAAAAGGA	0.373								DNA polymerases (catalytic subunits)				
CCDC37	348807	broad.mit.edu	37	3	126138595	126138596	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:126138594_126138595C>CA	uc010hsg.1	+	7	908_909	c.849_850C>CA	c.(847-852)ctcaaafs	p.L283fs	CCDC37_uc003eiu.1_Frame_Shift_Ins_p.L282fs	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	282										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACTCGTTTCTCAAAAAGGCCAA	0.475												
MRAS	22808	broad.mit.edu	37	3	138121035	138121036	+	In_Frame_Ins	INS	-	-	AGA			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:138121034_138121035C>CAGA	uc003esh.4	+	5	1246_1247	c.550_551C>CAGA	c.(550-552)cag>CAGAg	p.Q184Q	MRAS_uc011bmi.2_In_Frame_Ins_p.Q108Q|MRAS_uc003esi.4_In_Frame_Ins_p.Q184Q|MRAS_uc021xep.1_In_Frame_Ins_p.Q108Q|MRAS_uc011bmj.2_In_Frame_Ins_p.Q108Q|MRAS_uc021xeq.1_In_Frame_Ins_p.Q184Q	NM_012219	NP_036351	O14807	RASM_HUMAN	Homo sapiens muscle RAS oncogene homolog (MRAS), transcript variant 1, mRNA.	184					Ras protein signal transduction|actin cytoskeleton organization|muscle organ development	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GGAAAAAAGCCAGAAGAAGAAG	0.525												
ZBTB38	253461	broad.mit.edu	37	3	141164024	141164024	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:141164023_141164023GA>G	uc010hup.3	+	1	2843	c.2796_2796GA>G	c.(2794-2796)ttgfs	p.L932fs	ZBTB38_uc003etw.3_Frame_Shift_Del_p.L931fs|ZBTB38_uc010hun.3_Frame_Shift_Del_p.L928fs|ZBTB38_uc010huo.3_Frame_Shift_Del_p.L931fs|ZBTB38_uc003ety.3_Frame_Shift_Del_p.L931fs|ZBTB38_uc021xes.1_Frame_Shift_Del_p.L931fs	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	931					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CCAGACAGTTGAAAAAAATGA	0.483												
CHST2	9435	broad.mit.edu	37	3	142840376	142840376	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr3:142840375_142840375CG>C	uc003evm.3	+	1	1656	c.717_717CG>C	c.(715-717)agcfs	p.S239fs	CHST2_uc021xex.1_Frame_Shift_Del_p.S239fs	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	239					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCGCGGGCAGCGGGGGGCGCA	0.677												
RFC1	5981	broad.mit.edu	37	4	39310612	39310612	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:39310611_39310611AT>A	uc003gty.2	-	12	1670	c.1530_1530AT>T	c.(1528-1530)aatfs	p.N510fs	RFC1_uc003gtx.2_Frame_Shift_Del_p.N510fs	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	510					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|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	p.K509T(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTCCTTGGACATTTTTTTGGG	0.348												
NSUN7	79730	broad.mit.edu	37	4	40800843	40800843	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:40800842_40800842GT>G	uc003gvj.4	+	9	1816	c.1321_1321GT>G	c.(1321-1323)gttfs	p.V441fs	NSUN7_uc003gvi.4_Frame_Shift_Del_p.V441fs	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CACATGTTCAGTTTTTCCAGA	0.343												
CENPC1	1060	broad.mit.edu	37	4	68355753	68355753	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:68355752_68355752GA>G	uc003hdd.1	-	16	2786	c.2603_2603TC>C	c.(2602-2604)tctfs	p.S868fs	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihl.3_Frame_Shift_Del_p.S75fs	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	868					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding	p.S868fs*28(1)		NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						TTTCCCAGTAGAAAAAAAGGG	0.343												
SDAD1	55153	broad.mit.edu	37	4	76891521	76891521	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:76891520_76891520CT>C	uc003hje.4	-	9	944	c.825_825AG>G	c.(823-825)aagfs	p.K275fs	SDAD1_uc003hjf.4_Frame_Shift_Del_p.K178fs|SDAD1_uc011cbr.2_Frame_Shift_Del_p.K238fs	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	275					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTTTTTTCTTCTTTTTTTGTT	0.378												
KIAA1109	84162	broad.mit.edu	37	4	123165029	123165029	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:123165028_123165028GA>G	uc003ieh.3	+	28	4807	c.4762_4762GA>G	c.(4762-4764)gaafs	p.E1588fs	KIAA1109_uc003iek.2_Frame_Shift_Del_p.E207fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1588					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACTCCATTGGAAAAAAAACT	0.383												
HHIP	64399	broad.mit.edu	37	4	145567903	145567904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:145567902_145567903T>TG	uc003ijs.2	+	0	755_756	c.75_76T>TG	c.(73-78)tttgggfs	p.F25fs	LOC646576_uc003ijq.2_5'Flank|HHIP_uc003ijr.2_Frame_Shift_Ins_p.F25fs	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	25						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)		ATGCTAAGTTTGGGGAAAGAAA	0.574												
PRMT10	90826	broad.mit.edu	37	4	148589799	148589800	+	Splice_Site	INS	-	-	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:148589798_148589799T>TA	uc003ilc.3	-	6	989	c.847_splice	c.e6-1	p.T283_splice	PRMT10_uc003ild.3_Splice_Site_p.T170_splice	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	283						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ACCTTTGGTCTAAAAAAAATAA	0.292												
PRSS48	345062	broad.mit.edu	37	4	152201017	152201018	+	Frame_Shift_Ins	INS	-	-	GGCAG	rs148861921	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:152201016_152201017T>TGGCAG	uc011cif.2	+	1	121_122	c.121_122T>TGGCAG	c.(121-123)tggfs	p.W41fs	PRSS48_uc011cig.2_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	41	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GCGCTGGCCTTGGCAGGTCAGC	0.525												
SNX25	83891	broad.mit.edu	37	4	186267705	186267706	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr4:186267704_186267705T>TA	uc003ixh.3	+	12	1898_1899	c.1709_1710T>TA	c.(1708-1710)ttafs	p.L570fs	SNX25_uc010ish.3_Frame_Shift_Ins_p.L341fs|SNX25_uc003ixi.3_Frame_Shift_Ins_p.L74fs	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	Homo sapiens sorting nexin 25 (SNX25), mRNA.	570	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	p.V573fs*7(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GTCCCTTCTTTAAAAAAAGTCC	0.292												
ZFYVE16	9765	broad.mit.edu	37	5	79733692	79733693	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:79733691_79733692A>AT	uc003kgr.4	+	3	1489_1490	c.1187_1188A>AT	c.(1186-1188)gatfs	p.D396fs	ZFYVE16_uc010jak.2_Frame_Shift_Ins_p.D396fs|ZFYVE16_uc003kgp.3_Frame_Shift_Ins_p.D396fs|ZFYVE16_uc003kgq.4_Frame_Shift_Ins_p.D396fs|ZFYVE16_uc003kgs.4_Frame_Shift_Ins_p.D396fs	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	396					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GCACGGGGTGATTTTTTACCTC	0.401												
SSBP2	23635	broad.mit.edu	37	5	80769592	80769592	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:80769591_80769591TA>T	uc003khp.3	-	8	711	c.500_splice	c.e8-1	p.G167_splice	SSBP2_uc003khn.3_Splice_Site_p.G41_splice|SSBP2_uc011ctr.2_Splice_Site_p.G137_splice|SSBP2_uc003kho.3_Splice_Site_p.G167_splice|SSBP2_uc011ctp.2_Splice_Site_p.G147_splice|SSBP2_uc011ctq.2_Splice_Site_p.G137_splice	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	167	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TTGGATGTCCTAAAAAAAGTA	0.428												
CEP120	153241	broad.mit.edu	37	5	122713213	122713213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:122713212_122713212CT>C	uc003ktk.3	-	16	2330	c.2214_2214AG>G	c.(2212-2214)aagfs	p.K738fs	CEP120_uc010jcz.2_Frame_Shift_Del_p.K712fs|CEP120_uc011cwq.2_Frame_Shift_Del_p.K547fs	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	738						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ATTGCAGTTCCTTTTTTTCTC	0.388												
ZCCHC10	54819	broad.mit.edu	37	5	132334372	132334373	+	In_Frame_Ins	INS	-	-	GAG			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:132334371_132334372A>AGAG	uc003kyh.3	-	4	493_494	c.482_483T>CTCT	c.(481-483)tct>tCTCT	p.S161S	ZCCHC10_uc003kyg.3_In_Frame_Ins_p.S139S|ZCCHC10_uc011cxl.2_In_Frame_Ins_p.S125S	NM_017665	NP_060135	Q8TBK6	ZCH10_HUMAN	Homo sapiens zinc finger, CCHC domain containing 10 (ZCCHC10), mRNA.	161	Ser-rich.						nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCTGAATCAgaggaggagga	0.475												
EGR1	1958	broad.mit.edu	37	5	137803132	137803132	+	Frame_Shift_Del	DEL	C	C	-	rs148475837		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:137803131_137803131GC>G	uc003ldb.1	+	1	1263	c.993_993GC>G	c.(991-993)acgfs	p.T331fs		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	331					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAGCAAGACGCCCCCCCACG	0.652												
GPR151	134391	broad.mit.edu	37	5	145894693	145894693	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:145894692_145894692GT>G	uc003lod.1	-	0	985	c.985_985AC>C	c.(985-987)cctfs	p.P329fs		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	329						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGTTGGAGGTTTTTTGGTT	0.453												
FBXO38	81545	broad.mit.edu	37	5	147807115	147807115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr5:147807114_147807114TC>T	uc003lpf.1	+	14	2377	c.2257_2257TC>T	c.(2257-2259)tccfs	p.S753fs	FBXO38_uc003lpg.1_Frame_Shift_Del_p.S753fs|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	753						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGCCTGCTCCCCCGGTGG	0.602												
NHLRC1	378884	broad.mit.edu	37	6	18122226	18122226	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:18122225_18122225CA>C	uc003ncl.1	-	0	627	c.613_613TG>G	c.(613-615)ggcfs	p.G205fs		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA.	205					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TTGATCTGGCCAAAAAAATCA	0.522												
ZNF184	7738	broad.mit.edu	37	6	27420090	27420090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:27420089_27420089GT>G	uc003njj.3	-	4	2060	c.1249_1249AC>C	c.(1249-1251)ccgfs	p.P417fs	ZNF184_uc010jqv.3_Frame_Shift_Del_p.P417fs|ZNF184_uc003nji.3_Frame_Shift_Del_p.P417fs	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CATTCGTACGGTTTTTCACCA	0.418												
ABCF1	23	broad.mit.edu	37	6	30552301	30552302	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:30552300_30552301CAG>C	uc003nql.3	+	13	1443_1444	c.1348_1349CAG>C	c.(1348-1350)cagfs	p.Q450fs	ABCF1_uc003nqk.2_Frame_Shift_Del_p.Q451fs|ABCF1_uc003nqm.3_Frame_Shift_Del_p.Q412fs	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	450	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCGACCCACACAGAAGTTCTCA	0.644												
FANCE	2178	broad.mit.edu	37	6	35425715	35425716	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:35425714_35425715G>GC	uc003oko.1	+	3	1107_1108	c.922_923G>GC	c.(922-924)gccfs	p.A308fs	FANCE_uc010jvw.1_Frame_Shift_Ins_p.A308fs	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.540			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
PTK7	5754	broad.mit.edu	37	6	43114416	43114416	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:43114415_43114415GC>G	uc011dve.1	+	16	2766	c.2724_2724GC>G	c.(2722-2724)cagfs	p.Q908fs	PTK7_uc003oub.1_Frame_Shift_Del_p.Q900fs|PTK7_uc003ouc.1_Frame_Shift_Del_p.Q844fs|PTK7_uc003oud.1_Frame_Shift_Del_p.Q860fs|PTK7_uc003oue.1_Frame_Shift_Del_p.Q770fs|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Frame_Shift_Del_p.Q226fs	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	900	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGAAGTCACAGCCCCTCAGCA	0.557												
PKHD1	5314	broad.mit.edu	37	6	51930836	51930836	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:51930835_51930835TC>T	uc003pah.1	-	11	1095	c.819_819GA>A	c.(817-819)ggafs	p.G273fs	PKHD1_uc003pai.3_Frame_Shift_Del_p.G273fs	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	273	IPT/TIG 3.				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			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTTTGTTCTTCCCCCAAGGC	0.353												
RIMS1	22999	broad.mit.edu	37	6	72809676	72809678	+	Splice_Site	DEL	AGG	AGG	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:72809675_72809677AAGG>A	uc003pga.3	+	4	537	c.460_splice	c.e4-1	p.E154_splice		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	154	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	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)				TGCTTTCCCAAAGGAGGACAAAG	0.296												
CD109	135228	broad.mit.edu	37	6	74492413	74492414	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:74492412_74492413T>TG	uc003php.3	+	17	2470_2471	c.2039_2040T>TG	c.(2038-2040)ttgfs	p.L680fs	CD109_uc003phq.3_Frame_Shift_Ins_p.L680fs|CD109_uc010kba.3_Frame_Shift_Ins_p.L603fs	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	680	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACTTTTCTTTGGGTAGCAGTC	0.356												
IBTK	25998	broad.mit.edu	37	6	82924027	82924028	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:82924026_82924027C>CT	uc003pjl.1	-	11	2648_2649	c.2121_2122G>AG	c.(2119-2124)aaaggafs	p.K707fs	IBTK_uc011dyv.1_Frame_Shift_Ins_p.K707fs|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Frame_Shift_Ins_p.K401fs|IBTK_uc003pjm.2_Frame_Shift_Ins_p.K707fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	707					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ATATTTTTTCCTTTTTTACAAG	0.327												
DOPEY1	23033	broad.mit.edu	37	6	83877831	83877831	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:83877830_83877830CA>C	uc011dyy.2	+	39	7635	c.7375_7375CA>C	c.(7375-7377)caafs	p.Q2459fs	PGM3_uc003pju.2_3'UTR|PGM3_uc003pjw.3_3'UTR|PGM3_uc011dyz.2_3'UTR|PGM3_uc021zcd.1_Intron|DOPEY1_uc003pjs.1_Frame_Shift_Del_p.Q2448fs|DOPEY1_uc010kbl.1_Frame_Shift_Del_p.Q2439fs|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2448					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAAAGCCAGGCAAAAAATAGA	0.398												
HTR1E	3354	broad.mit.edu	37	6	87725557	87725557	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:87725556_87725556TC>T	uc003pli.3	+	1	1207	c.504_504TC>T	c.(502-504)cctfs	p.P168fs	HTR1E_uc021zcg.1_Frame_Shift_Del_p.P168fs	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	168					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GCCTAAGCCCTCCCCCTAGTC	0.542												
REV3L	5980	broad.mit.edu	37	6	111695488	111695488	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:111695487_111695487AT>A	uc003puy.4	-	12	4412	c.4071_4071AT>T	c.(4069-4071)aatfs	p.N1357fs	REV3L_uc003pux.4_Frame_Shift_Del_p.N1279fs|REV3L_uc003puz.4_Frame_Shift_Del_p.N1279fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1357					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		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)		GGTCAAATATATTTTTTTGAA	0.308								DNA polymerases (catalytic subunits)				
COL10A1	1300	broad.mit.edu	37	6	116442752	116442752	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:116442751_116442751CT>C	uc003pwm.3	-	2	624	c.528_528AG>G	c.(526-528)aagfs	p.K176fs	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	176	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CTGGTGCACCCTTTTCTCCAG	0.592												
L3MBTL3	84456	broad.mit.edu	37	6	130407306	130407306	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:130407305_130407305GA>G	uc003qbt.3	+	15	1604	c.1428_1428GA>G	c.(1426-1428)cagfs	p.Q476fs	L3MBTL3_uc003qbu.3_Frame_Shift_Del_p.Q451fs	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	476					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ATGGATTCCAGAAAAAAATGA	0.373												
ARG1	383	broad.mit.edu	37	6	131894346	131894346	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:131894345_131894345GA>G	uc003qcp.2	+	1	1	c.-78_splice	c.e1-1		ARG1_uc003qco.2_Splice_Site|ARG1_uc010kfm.2_Splice_Site	NM_000045	NP_000036	P05089	ARGI1_HUMAN	Homo sapiens arginase, liver (ARG1), transcript variant 2, mRNA.						arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	AGTATAAATGGAAAAAAAAGA	0.443												
MED23	9439	broad.mit.edu	37	6	131948626	131948626	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr6:131948625_131948625TA>T	uc003qcs.1	-	3	246	c.72_splice	c.e3-1	p.G24_splice	ENPP3_uc010kfn.1_5'Flank|ENPP3_uc003qcu.4_5'Flank|MED23_uc003qcq.3_Splice_Site_p.G24_splice|MED23_uc003qct.1_Splice_Site_p.G24_splice|MED23_uc011ecb.1_Splice_Site	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	24					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATAAACATGCTAAAAAAATAA	0.348												
GET4	51608	broad.mit.edu	37	7	927116	927116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:927115_927115AC>A	uc003sjl.1	+	3	517	c.425_425AC>A	c.(424-426)cacfs	p.H142fs	GET4_uc003sjj.1_Non-coding_Transcript	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	Homo sapiens golgi to ER traffic protein 4 homolog (S. cerevisiae) (GET4), mRNA.	142					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AAGCTGGGCCACCCCCGGCTG	0.647												
ETV1	2115	broad.mit.edu	37	7	14026313	14026313	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:14026312_14026312TA>T	uc021zzz.1	-	3	221	c.134_splice	c.e3-1	p.E45_splice	ETV1_uc021zzt.1_5'Flank|ETV1_uc021zzu.1_5'Flank|ETV1_uc021zzv.1_5'Flank|ETV1_uc021zzw.1_5'Flank|ETV1_uc021zzx.1_5'Flank|ETV1_uc021zzy.1_5'Flank|ETV1_uc022aaa.1_Splice_Site_p.E45_splice|ETV1_uc022aab.1_Splice_Site_p.E45_splice|ETV1_uc003ssw.4_Splice_Site_p.E45_splice|ETV1_uc003ssx.3_Splice_Site|ETV1_uc022aac.1_Splice_Site_p.E45_splice|ETV1_uc022aad.1_Splice_Site_p.E45_splice|ETV1_uc010ktv.3_5'Flank	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	45					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAAAGAGTTCTAAAAAACAAG	0.289			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""							
DNAH11	8701	broad.mit.edu	37	7	21939669	21939670	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:21939668_21939669C>CA	uc003svc.3	+	81	13285_13286	c.13254_13255C>CA	c.(13252-13257)accaaafs	p.T4418fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4418					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGATGTTACCAAAAAAACAAA	0.465									Kartagener syndrome			
ABCB1	5243	broad.mit.edu	37	7	87178807	87178808	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:87178806_87178807CCT>C	uc003uiz.2	-	14	2075_2076	c.1582_1583AGG>G	c.(1582-1584)gggfs	p.G528fs	ABCB1_uc011khc.2_Frame_Shift_Del_p.G464fs	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	528	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAACTGGGCCCCTCTCTCTCCA	0.505												
AKAP9	10142	broad.mit.edu	37	7	91726097	91726097	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:91726096_91726096CA>C	uc003ulg.3	+	40	10048	c.9823_9823CA>C	c.(9823-9825)caafs	p.Q3275fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.Q3267fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.Q2898fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.Q1045fs|AKAP9_uc003ull.3_Frame_Shift_Del_p.Q171fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3279					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	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)			CGAATCCCAGCAAAAAATAGA	0.388			T	BRAF	papillary thyroid							
CASD1	64921	broad.mit.edu	37	7	94185017	94185017	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:94185016_94185016AT>A	uc003uni.4	+	17	2567	c.2340_2340AT>A	c.(2338-2340)gcafs	p.A780fs	CASD1_uc003unj.4_Frame_Shift_Del_p.A780fs	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	780						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTATAGCTGCATTTTTTTGTG	0.343												
SRRT	51593	broad.mit.edu	37	7	100479332	100479333	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:100479331_100479332T>TG	uc003uwy.2	+	3	570_571	c.303_304T>TG	c.(301-306)gctgggfs	p.A101fs	SRRT_uc010lhl.1_Frame_Shift_Ins_p.A101fs|SRRT_uc003uxa.2_Frame_Shift_Ins_p.A101fs|SRRT_uc003uwz.2_Frame_Shift_Ins_p.A101fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	101					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609												
TNPO3	23534	broad.mit.edu	37	7	128610259	128610260	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:128610258_128610259A>AG	uc010lly.2	-	19	3046_3047	c.2643_2644T>CT	c.(2641-2646)ccctatfs	p.P881fs	TNPO3_uc010llx.2_Frame_Shift_Ins_p.P258fs|TNPO3_uc003vol.2_Frame_Shift_Ins_p.P847fs|TNPO3_uc010llz.2_Frame_Shift_Ins_p.P783fs|TNPO3_uc003vom.2_Frame_Shift_Ins_p.P781fs	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	847					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	p.E882*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAGGGTATAGGGGGGGAGGC	0.485												
CNTNAP2	26047	broad.mit.edu	37	7	146997373	146997374	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr7:146997372_146997373C>CT	uc003weu.2	+	8	2004_2005	c.1488_1489C>CT	c.(1486-1491)tactttfs	p.Y496fs	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	496	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCGAGAAGTACTTTTTTGGAGG	0.356										HNSCC(39;0.1)		
MSRA	4482	broad.mit.edu	37	8	10102690	10102692	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:10102689_10102691CAGG>C	uc003wsx.3	+	2	484_486	c.287_289CAGG>C	c.(286-291)gcagga>gCga	p.G98del	MSRA_uc011kwx.2_Intron|MSRA_uc011kwy.1_In_Frame_Del_p.G55del|MSRA_uc003wsy.3_In_Frame_Del_p.G32del|MSRA_uc003wsz.3_In_Frame_Del_p.G55del	NM_012331	NP_001186658	Q9UJ68	MSRA_HUMAN	Homo sapiens methionine sulfoxide reductase A (MSRA), transcript variant 1, mRNA.	98					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GTTGGTTTTGCAGGAGGCTATAC	0.374												
KIAA1967	57805	broad.mit.edu	37	8	22472975	22472975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:22472974_22472974AC>A	uc003xch.3	+	11	1491	c.1242_1242AC>A	c.(1240-1242)ggafs	p.G414fs	KIAA1967_uc003xci.3_Frame_Shift_Del_p.G414fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.G83fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	414					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	p.P413P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCAGCCGGGACCCCCCCGGC	0.582												
TRIM35	23087	broad.mit.edu	37	8	27145457	27145457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:27145456_27145456GC>G	uc003xfl.1	-	5	1175	c.1093_1093GC>C	c.(1093-1095)ctgfs	p.L365fs	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	365	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CAGCTCTGCAGCCCCCCAAGG	0.687												
RGS22	26166	broad.mit.edu	37	8	101092490	101092491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:101092489_101092490A>AT	uc003yjb.1	-	3	406_407	c.211_212T>AT	c.(211-213)attfs	p.I71fs	RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Frame_Shift_Ins_p.I71fs|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_5'UTR	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	71					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTTTTGTAGAATTTTTTTCAGT	0.361												
GRHL2	79977	broad.mit.edu	37	8	102589666	102589666	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:102589665_102589665CA>C	uc010mbu.3	+	6	1251	c.921_921CA>C	c.(919-921)gacfs	p.D307fs		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	307						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TCAGTGAAGACAAAAACAGAG	0.483												
ZNF572	137209	broad.mit.edu	37	8	125987893	125987893	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr8:125987892_125987892GA>G	uc003yrr.3	+	1	165	c.10_10GA>G	c.(10-12)gaafs	p.E4fs		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E4Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GATGGAGCAAGAAAAAAAACT	0.398										HNSCC(60;0.17)		
BAG1	573	broad.mit.edu	37	9	33261170	33261170	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:33261169_33261169TA>T	uc003zsj.3	-	3	668	c.581_splice	c.e3-1	p.G194_splice	BAG1_uc003zsi.3_Splice_Site_p.G56_splice	NM_001172415	NP_001165886	Q99933	BAG1_HUMAN	Homo sapiens BCL2-associated athanogene (BAG1), transcript variant 1, mRNA.	194	Interaction with HSPA8.|Ubiquitin-like.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			GAGATTTTCCTAAAAAGAGGA	0.373												
NOL6	65083	broad.mit.edu	37	9	33466944	33466945	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:33466943_33466944G>GC	uc003zsz.3	-	14	2017_2018	c.1916_1917C>GC	c.(1915-1917)ggcfs	p.G639fs	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Frame_Shift_Ins_p.G639fs|NOL6_uc010mjv.3_Frame_Shift_Ins_p.G636fs|NOL6_uc011lob.2_Frame_Shift_Ins_p.G587fs|NOL6_uc003ztb.1_Frame_Shift_Ins_p.G639fs	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	639					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CATCCAGGGGGCCCCCCACATA	0.520											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PIGO	84720	broad.mit.edu	37	9	35091523	35091524	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:35091522_35091523T>TG	uc003zwd.3	-	6	2757_2758	c.2361_2362A>CA	c.(2359-2364)cccactfs	p.P787fs	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Frame_Shift_Ins_p.P350fs	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	787					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604												
GDA	9615	broad.mit.edu	37	9	74817634	74817636	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:74817633_74817635CAGA>C	uc004air.3	+	2	568_570	c.359_361CAGA>C	c.(358-363)gcagaa>gCaa	p.E122del	GDA_uc011lse.2_In_Frame_Del_p.E48del|GDA_uc004aiq.3_In_Frame_Del_p.E122del|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_In_Frame_Del_p.E48del|GDA_uc004ais.3_In_Frame_Del_p.E80del|GDA_uc004ait.1_In_Frame_Del_p.E48del	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	122					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.E121V(1)|p.E122E(1)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATCGACTTTGCAGAAGAAGTATA	0.409												
TMC1	117531	broad.mit.edu	37	9	75263574	75263574	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:75263573_75263573CA>C	uc004aiz.1	+	4	549	c.9_9CA>C	c.(7-9)cccfs	p.P3fs	TMC1_uc010moz.1_Frame_Shift_Del_p.P3fs|TMC1_uc004aja.1_Intron|TMC1_uc004ajb.1_Intron|TMC1_uc004ajc.1_Intron|TMC1_uc010mpa.1_Intron	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	3					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GGATGTCACCCAAAAAAGGTA	0.403												
FBP1	2203	broad.mit.edu	37	9	97380086	97380087	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:97380085_97380086C>CA	uc004auw.4	-	2	721_722	c.390_391G>TG	c.(388-393)cttgtgfs	p.L130fs	FBP1_uc010mrl.3_Frame_Shift_Ins_p.L130fs	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	130					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CCAACGGACACAAGGCAATCGA	0.386												
RABGAP1	23637	broad.mit.edu	37	9	125861042	125861042	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:125861041_125861041TA>T	uc011lzh.2	+	22	2915	c.2781_2781TA>T	c.(2779-2781)attfs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AATCTGAGATTAAAAAAAACA	0.398												
GRIN1	2902	broad.mit.edu	37	9	140058231	140058231	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr9:140058230_140058230TG>T	uc004clk.3	+	17	2793	c.2463_2463TG>T	c.(2461-2463)gctfs	p.A821fs	GRIN1_uc004cli.1_Frame_Shift_Del_p.A496fs|GRIN1_uc004clj.1_Frame_Shift_Del_p.A818fs|GRIN1_uc004cln.3_Frame_Shift_Del_p.A842fs|GRIN1_uc004clo.3_Frame_Shift_Del_p.A842fs|GRIN1_uc004clm.3_Frame_Shift_Del_p.A821fs|GRIN1_uc004cll.3_Frame_Shift_Del_p.A821fs	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	821					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TGCTGGTAGCTGGGGGCATCG	0.627												
JMJD1C	221037	broad.mit.edu	37	10	64958470	64958470	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:64958469_64958469GT>G	uc001jmn.3	-	11	5595	c.5295_5295AC>C	c.(5293-5295)aacfs	p.N1765fs	JMJD1C_uc001jml.3_Frame_Shift_Del_p.N1546fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.N1477fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.N1583fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.N1583fs|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1765					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.P1765L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAACTACTCCGTTTTTACTAA	0.284												
CCAR1	55749	broad.mit.edu	37	10	70513670	70513671	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:70513669_70513670C>CT	uc001joo.3	+	10	1298_1299	c.1179_1180C>CT	c.(1177-1182)gactttfs	p.D393fs	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Frame_Shift_Ins_p.D198fs|CCAR1_uc009xpx.1_Frame_Shift_Ins_p.D367fs|CCAR1_uc001jon.1_Frame_Shift_Ins_p.D339fs|CCAR1_uc010qiz.1_Frame_Shift_Ins_p.D378fs|CCAR1_uc010qja.1_Frame_Shift_Ins_p.D378fs|CCAR1_uc010qjb.2_Non-coding_Transcript|SNORD98_uc001jop.1_5'Flank	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	393					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TACCTAGTGACTTTTTTGATGC	0.361												
VCL	7414	broad.mit.edu	37	10	75864868	75864868	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:75864867_75864867TA>T	uc001jwd.3	+	15	2284	c.2190_2190TA>T	c.(2188-2190)attfs	p.I730fs	VCL_uc009xrr.3_Frame_Shift_Del_p.I479fs|VCL_uc010qky.1_Frame_Shift_Del_p.I637fs|VCL_uc001jwe.3_Frame_Shift_Del_p.I730fs|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	730	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AAGAAGCAATTAAAAAAGACC	0.463												
LRIT1	26103	broad.mit.edu	37	10	86001144	86001145	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:86001143_86001144T>TG	uc001kcz.1	-	0	74_75	c.52_53A>CA	c.(52-54)cagfs	p.Q18fs		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	18						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCCCGGGCCTGGGGGGGCCAC	0.673												
BMPR1A	657	broad.mit.edu	37	10	88651974	88651975	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:88651973_88651974A>AT	uc001kdy.3	+	4	868_869	c.320_321A>AT	c.(319-321)gatfs	p.D107fs		NM_004329	NP_004320	P36894	BMR1A_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IA (BMPR1A), mRNA.	107					BMP signaling pathway|immune response|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|SMAD binding|metal ion binding|protein homodimerization activity|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						GAAGGATCTGATTTTCAGTGCA	0.416			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2			
PPRC1	23082	broad.mit.edu	37	10	103900371	103900371	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:103900370_103900370TG>T	uc001kum.3	+	4	2144	c.2105_2105TG>T	c.(2104-2106)ctgfs	p.L702fs	PPRC1_uc001kun.3_Frame_Shift_Del_p.L582fs|PPRC1_uc010qqj.2_Frame_Shift_Del_p.L702fs|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCATCAGCCCTGGGGGGTTCA	0.532												
PPRC1	23082	broad.mit.edu	37	10	103901077	103901078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:103901076_103901077G>GC	uc001kum.3	+	4	2850_2851	c.2811_2812G>GC	c.(2809-2814)ctgcccfs	p.L937fs	PPRC1_uc001kun.3_Frame_Shift_Ins_p.L817fs|PPRC1_uc010qqj.2_Frame_Shift_Ins_p.L937fs|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	937	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATCCTTGCCTGCCCCCCCCACC	0.604												
EIF3A	8661	broad.mit.edu	37	10	120797783	120797784	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:120797782_120797783ATC>A	uc001ldu.3	-	19	3841_3842	c.3695_3696GAT>T	c.(3694-3696)gatfs	p.D1232fs	EIF3A_uc010qsu.2_Frame_Shift_Del_p.D1198fs|EIF3A_uc009xzg.1_Frame_Shift_Del_p.D271fs	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1232	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTCGATCCACAtctctctctct	0.480												
TACC2	10579	broad.mit.edu	37	10	123974941	123974943	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:123974940_123974942TCTC>T	uc001lfv.3	+	9	7678_7680	c.7318_7320TCTC>T	c.(7318-7320)tct>T	p.S2440del	TACC2_uc001lfw.3_In_Frame_Del_p.S586del|TACC2_uc009xzx.3_In_Frame_Del_p.S2395del|TACC2_uc010qtv.2_In_Frame_Del_p.S2444del|TACC2_uc001lfx.3_In_Frame_Del_p.S144del|TACC2_uc001lfy.3_In_Frame_Del_p.S140del|TACC2_uc001lfz.3_In_Frame_Del_p.S518del|TACC2_uc001lga.3_In_Frame_Del_p.S518del|TACC2_uc009xzy.3_In_Frame_Del_p.S530del|TACC2_uc001lgb.3_In_Frame_Del_p.S475del|TACC2_uc010qtw.1_In_Frame_Del_p.S535del	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2440						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCAAAACGGTCTCCTCTCTCTG	0.478												
C10orf120	399814	broad.mit.edu	37	10	124457495	124457496	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:124457494_124457495A>AT	uc001lgn.3	-	2	794_795	c.762_763T>AT	c.(760-765)aaatgtfs	p.K254fs		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	254										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TATGTTAAACATTTTTTTGGTT	0.386												
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Ins	INS	-	-	TG	rs143354291	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr10:129902203_129902204T>TTG	uc001lke.3	-	12	8095_8096	c.7900_7901A>CAA	c.(7900-7902)aaafs	p.K2634fs	MKI67_uc001lkf.3_Frame_Shift_Ins_p.K2274fs|MKI67_uc009yav.1_Frame_Shift_Ins_p.K2209fs|MKI67_uc009yaw.1_Frame_Shift_Ins_p.K1784fs	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2634	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.H2633D(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		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)				TGCTGGTTCTTTGTGTGTGTGT	0.495												
CDHR5	53841	broad.mit.edu	37	11	618900	618901	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:618899_618900C>CG	uc001lql.3	-	12	1926_1927	c.1659_1660G>CG	c.(1657-1662)cccggtfs	p.P553fs	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Frame_Shift_Ins_p.P553fs|CDHR5_uc009ycd.3_Frame_Shift_Ins_p.P547fs|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Frame_Shift_Ins_p.P387fs	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	553	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTTCCCACACCGGGGGGCATCG	0.668												
MUC5B	727897	broad.mit.edu	37	11	1266053	1266053	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:1266052_1266052AC>A	uc001lta.3	+	30	8001	c.7942_7942AC>A	c.(7942-7944)accfs	p.T2648fs		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2648	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		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)		TTCCACGGTGACCCCCTCCTC	0.642												
MUC5B	727897	broad.mit.edu	37	11	1267481	1267481	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:1267480_1267480AC>A	uc001lta.3	+	30	9429	c.9370_9370AC>A	c.(9370-9372)accfs	p.T3124fs		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3124	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		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)		TTCCATGTCCACCCCCTCCTC	0.647												
OR51E1	143503	broad.mit.edu	37	11	4674217	4674217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:4674216_4674216CG>C	uc021qcq.1	+	0	460	c.460_460CG>C	c.(460-462)cggfs	p.R154fs	OR51E1_uc001lzi.4_Frame_Shift_Del_p.R154fs	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGC	0.557												
PDE3B	5140	broad.mit.edu	37	11	14880754	14880754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:14880753_14880753TA>T	uc001mln.3	+	12	3038	c.2685_2685TA>T	c.(2683-2685)cttfs	p.L895fs	PDE3B_uc010rcr.2_Frame_Shift_Del_p.L844fs	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	895	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTACGGATCTTAAAAAGCATT	0.338												
NUP160	23279	broad.mit.edu	37	11	47828647	47828648	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:47828646_47828647CAG>C	uc001ngm.3	-	18	2506_2507	c.2421_2422CTG>G	c.(2419-2424)tctggtfs	p.S807fs	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Frame_Shift_Del_p.S807fs	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	807					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding	p.S807C(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ATTAAAGCACCAGAGTCTGTTA	0.366												
ZFP91	80829	broad.mit.edu	37	11	58377810	58377810	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:58377809_58377809TA>T	uc001nmx.4	+	4	785	c.617_splice	c.e4+2	p.S206_splice	ZFP91_uc001nmy.4_Splice_Site_p.S206_splice|CNTF_uc010rkm.2_Splice_Site	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	206	Glu-rich.			Missing (in Ref. 4; AAH51743).	activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGGCATTAGGTAAAAAAAACA	0.313												
RPS6KA4	8986	broad.mit.edu	37	11	64132907	64132907	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:64132906_64132906GC>G	uc001oae.3	+	8	1123	c.1040_1040GC>G	c.(1039-1041)agcfs	p.S347fs	RPS6KA4_uc001oad.3_Frame_Shift_Del_p.S347fs|RPS6KA4_uc010rnl.2_Frame_Shift_Del_p.S284fs|RPS6KA4_uc001oaf.3_Frame_Shift_Del_p.S347fs|RPS6KA4_uc009ypp.3_Frame_Shift_Del_p.S347fs	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	347	AGC-kinase C-terminal.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCCCCTGGCAGCCCCCCACCT	0.602												
EHD1	10938	broad.mit.edu	37	11	64627811	64627811	+	Splice_Site	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:64627810_64627810TG>T	uc010rnq.1	-	4	592	c.545_splice	c.e4-1	p.G182_splice	EHD1_uc001obu.1_Splice_Site_p.G168_splice|EHD1_uc001obv.1_Splice_Site_p.G168_splice	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	168				ERV -> DCW (in Ref. 2; AAD45866).	blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AGTCATAGCCTGGGGGGAAGA	0.582												
KLC2	64837	broad.mit.edu	37	11	66033664	66033664	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:66033663_66033663AC>A	uc010rov.1	+	13	1945	c.1702_1702AC>A	c.(1702-1704)accfs	p.T568fs	KLC2_uc010row.1_Frame_Shift_Del_p.T568fs|KLC2_uc001ohb.2_Frame_Shift_Del_p.T568fs|KLC2_uc010rox.1_Frame_Shift_Del_p.T491fs|KLC2_uc001ohc.2_Frame_Shift_Del_p.T568fs|KLC2_uc001ohd.2_Frame_Shift_Del_p.T491fs|KLC2_uc001ohe.1_Frame_Shift_Del_p.T429fs|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	568					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGGGGGGCACCCCCCAGGA	0.652												
IGHMBP2	3508	broad.mit.edu	37	11	68696803	68696803	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:68696802_68696802GC>G	uc001ook.1	+	7	1314	c.1212_1212GC>G	c.(1210-1212)ctgfs	p.L404fs	IGHMBP2_uc001ooj.1_Non-coding_Transcript|IGHMBP2_uc001ool.1_5'Flank|IGHMBP2_uc001oom.1_5'Flank	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	404	Leu-rich.				DNA recombination|DNA repair|DNA replication|cell death|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|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACAAGCAGCTGCCCCCCACCA	0.642												
KRTAP5-11	440051	broad.mit.edu	37	11	71293816	71293816	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:71293815_71293815GC>G	uc001oqu.3	-	0	107	c.69_69GC>C	c.(67-69)ggcfs	p.G23fs		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	23						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAGAGCCACAGCCCCCACTGC	0.632												
MMP10	4319	broad.mit.edu	37	11	102650395	102650396	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:102650394_102650395A>AT	uc001phg.2	-	1	224_225	c.187_188T>AT	c.(187-189)atcfs	p.I63fs		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	63					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CATTCCTTGGATTTTTTTAACA	0.421												
C11orf57	55216	broad.mit.edu	37	11	111953316	111953316	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:111953315_111953315CA>C	uc001pmw.4	+	5	624	c.501_501CA>C	c.(499-501)cacfs	p.H167fs	C11orf57_uc001pmr.4_Frame_Shift_Del_p.H166fs|C11orf57_uc001pmt.4_Frame_Shift_Del_p.H167fs|C11orf57_uc001pmv.4_Frame_Shift_Del_p.H166fs|C11orf57_uc001pms.4_Frame_Shift_Del_p.H138fs	NM_001082969	NP_060665	Q6ZUT1	CK057_HUMAN	Homo sapiens chromosome 11 open reading frame 57 (C11orf57), transcript variant 2, mRNA.	166	Lys-rich.									autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-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;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AAAGGTCACACAAAAAACAGA	0.413												
DDX6	1656	broad.mit.edu	37	11	118629614	118629615	+	Splice_Site	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL							
HYOU1	10525	broad.mit.edu	37	11	118918526	118918527	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:118918525_118918526G>GC	uc001puu.2	-	21	2708_2709	c.2515_2516C>GC	c.(2515-2517)gccfs	p.A839fs	HYOU1_uc001put.2_Frame_Shift_Ins_p.A804fs|HYOU1_uc010ryu.1_Frame_Shift_Ins_p.A797fs|HYOU1_uc010ryv.1_Frame_Shift_Ins_p.A728fs|HYOU1_uc001pux.3_Frame_Shift_Ins_p.A839fs	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	839						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GATGAGCCGGGCCCCCCTGGAA	0.540												
CBL	867	broad.mit.edu	37	11	119155727	119155727	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr11:119155726_119155726TC>T	uc001pwe.3	+	9	1617	c.1479_1479TC>T	c.(1477-1479)cttfs	p.L493fs		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	493	Pro-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AAGCTTCCCTTCCCCCGGTGC	0.498			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TM7SF3	51768	broad.mit.edu	37	12	27135795	27135795	+	Splice_Site	DEL	A	A	-	rs34653193	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:27135794_27135794TA>T	uc010sjl.2	-	7	1107	c.869_splice	c.e7-1	p.G290_splice		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	290						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ACACTCTTCCTAAAAAATAAT	0.318												
STK38L	23012	broad.mit.edu	37	12	27455095	27455097	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:27455094_27455096GGAA>G	uc001rhr.3	+	2	358_360	c.159_161GGAA>G	c.(157-162)atggaa>atGa	p.E56del	STK38L_uc010sjm.2_In_Frame_Del_p.E4del	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.	56					intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	ATP binding|actin binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					AAGTGGCCATGGAAGAAGAAGGA	0.291												
GXYLT1	283464	broad.mit.edu	37	12	42499816	42499817	+	Frame_Shift_Ins	INS	-	-	A	rs78939583		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:42499815_42499816T>TA	uc001rms.4	-	4	893_894	c.668_669A>TA	c.(667-669)ttafs	p.L223fs	GXYLT1_uc001rmt.4_Frame_Shift_Ins_p.L192fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	223					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CAACTGGTCGTAAAAAAAGGAT	0.327												
PUS7L	83448	broad.mit.edu	37	12	44139909	44139909	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:44139908_44139908GT>G	uc001rns.4	-	3	1284	c.1204_1204AC>C	c.(1204-1206)caafs	p.Q402fs	PUS7L_uc001rnq.4_Frame_Shift_Del_p.Q402fs|PUS7L_uc001rnr.4_Frame_Shift_Del_p.Q402fs|PUS7L_uc009zkb.3_Frame_Shift_Del_p.Q89fs	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	402					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCATTTATTTGTTTTTTTAAA	0.318												
ARID2	196528	broad.mit.edu	37	12	46215214	46215214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:46215213_46215213CT>C	uc001ros.1	+	5	648	c.648_648CT>C	c.(646-648)tccfs	p.S216fs	ARID2_uc001ror.3_Frame_Shift_Del_p.S216fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	216					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	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)		CTTTAGGATCCTTTTCCACTG	0.259			"""N, S, F"""		hepatocellular carcinoma							
MLL2	8085	broad.mit.edu	37	12	49445526	49445527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:49445525_49445526T>TG	uc001rta.4	-	9	1940_1941	c.1940_1941A>CA	c.(1939-1941)ccafs	p.P647fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.P647fs*38(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATACCTCAGGTGGGGGGGACAT	0.634			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
LIMA1	51474	broad.mit.edu	37	12	50615953	50615953	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:50615952_50615952AT>A	uc001rwj.4	-	3	656	c.482_482AT>T	c.(481-483)atgfs	p.M161fs	LIMA1_uc001rwh.4_Frame_Shift_Del_p.M1fs|LIMA1_uc001rwi.4_Frame_Shift_Del_p.M1fs|LIMA1_uc001rwk.4_Frame_Shift_Del_p.M161fs|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	161					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.M161fs*11(2)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ACAATTTTCCATTTTTTTACT	0.423												
ACVR1B	91	broad.mit.edu	37	12	52379121	52379121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:52379120_52379120TG>T	uc010snn.2	+	6	1324	c.1247_1247TG>T	c.(1246-1248)gtgfs	p.V416fs	ACVR1B_uc001rzl.3_Frame_Shift_Del_p.V375fs|ACVR1B_uc001rzm.3_Frame_Shift_Del_p.V375fs|ACVR1B_uc001rzn.3_Frame_Shift_Del_p.V375fs|ACVR1B_uc021qya.1_Frame_Shift_Del_p.V323fs	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	375	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AATCAGAGGGTGGGGACCAAA	0.557												
HOXC10	3226	broad.mit.edu	37	12	54379619	54379619	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:54379618_54379618TG>T	uc001sen.3	+	0	673	c.575_575TG>T	c.(574-576)ctgfs	p.L192fs		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	Homo sapiens homeobox C10 (HOXC10), mRNA.	192					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TCGCCTCAGCTGGGGGGCAAA	0.632												
GLI1	2735	broad.mit.edu	37	12	57864125	57864125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:57864124_57864124GC>G	uc001snx.3	+	11	1695	c.1601_1601GC>G	c.(1600-1602)ggcfs	p.G534fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.G493fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.G406fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	534					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGCCGCGTGGGCCCCCCAGTC	0.607												
KIF5A	3798	broad.mit.edu	37	12	57957459	57957459	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:57957458_57957458GA>G	uc001sor.1	+	2	481	c.273_273GA>G	c.(271-273)gggfs	p.G91fs	KIF5A_uc010srr.1_Intron	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	91	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CATCCTCAGGGAAAACACATA	0.498												
AVIL	10677	broad.mit.edu	37	12	58204896	58204896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:58204895_58204895AC>A	uc001sqj.2	-	3	383	c.354_354GT>T	c.(352-354)ggtfs	p.G118fs	AVIL_uc009zqe.2_Frame_Shift_Del_p.G111fs|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Frame_Shift_Del_p.G95fs|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	118	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CAGAGGCGACACCCCCCTGCT	0.512												
GRIP1	23426	broad.mit.edu	37	12	66788074	66788074	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:66788073_66788073GC>G	uc001stk.3	-	15	2129	c.1888_1888GC>C	c.(1888-1890)cccfs	p.P630fs	GRIP1_uc010sta.1_Frame_Shift_Del_p.P574fs|GRIP1_uc001stj.3_Frame_Shift_Del_p.P412fs|GRIP1_uc001stm.3_Frame_Shift_Del_p.P630fs|GRIP1_uc001stl.1_Frame_Shift_Del_p.P522fs	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	682	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATGCCAAGGGGCCCCCCGTAG	0.408												
CCT2	10576	broad.mit.edu	37	12	69980100	69980101	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:69980099_69980100AAG>A	uc001svb.1	+	1	147_148	c.53_54AAG>A	c.(52-54)gaafs	p.E18fs	CCT2_uc010stl.1_5'UTR|MIR3913-1_uc021ram.1_5'Flank	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	18					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGAGCTGATGAAGAGAGAGCAG	0.465											OREG0021987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RAB3IP	117177	broad.mit.edu	37	12	70150275	70150276	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:70150274_70150275CAG>C	uc001svp.3	+	2	836_837	c.389_390CAG>C	c.(388-390)gcafs	p.A130fs	RAB3IP_uc021rao.1_Frame_Shift_Del_p.A114fs|RAB3IP_uc001svm.3_Frame_Shift_Del_p.A114fs|RAB3IP_uc001svn.3_Frame_Shift_Del_p.A114fs|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Frame_Shift_Del_p.A130fs|RAB3IP_uc001svs.3_Non-coding_Transcript	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	130					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AACTATAATGCAGAGAGAGAGT	0.431												
GAS2L3	283431	broad.mit.edu	37	12	101017470	101017470	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:101017469_101017469CA>C	uc001thu.3	+	9	1112	c.886_886CA>C	c.(886-888)caafs	p.Q296fs	GAS2L3_uc009zty.3_Frame_Shift_Del_p.Q296fs|GAS2L3_uc001thv.3_Frame_Shift_Del_p.Q192fs	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	296					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTAGCATTTCAAAAAGGAGT	0.393												
APPL2	55198	broad.mit.edu	37	12	105570797	105570798	+	Splice_Site	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:105570796_105570797T>TG	uc010swu.1	-	19	1908	c.1690_splice	c.e19-1	p.F564_splice	APPL2_uc010swt.2_Splice_Site_p.F515_splice|APPL2_uc001tlf.1_Splice_Site_p.F558_splice|APPL2_uc001tlg.1_Splice_Site_p.F312_splice	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	558	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAGTTCAAACTGGGGGGTGGAA	0.401												
DNAH10	196385	broad.mit.edu	37	12	124315113	124315113	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:124315112_124315112GA>G	uc001uft.4	+	24	4082	c.4057_4057GA>G	c.(4057-4059)gaafs	p.E1353fs		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1353	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAACTTATGGAAAAAACGTC	0.363												
TMEM132D	121256	broad.mit.edu	37	12	130184705	130184705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:130184704_130184704TG>T	uc009zyl.1	-	1	947	c.619_619CA>A	c.(619-621)acgfs	p.T207fs		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	207						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)		GCAACCACCGTGGGGGGGCTG	0.711												
GOLGA3	2802	broad.mit.edu	37	12	133367828	133367829	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr12:133367827_133367828A>AT	uc001ukz.1	-	11	3080_3081	c.2521_2522T>AT	c.(2521-2523)atafs	p.I841fs	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Frame_Shift_Ins_p.I841fs|GOLGA3_uc001ulb.3_Frame_Shift_Ins_p.I841fs	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	841					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	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)		CTGTTCCTTTATTTTTTGCATT	0.421												
SACS	26278	broad.mit.edu	37	13	23908934	23908934	+	Frame_Shift_Del	DEL	A	A	-	rs144616826		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:23908933_23908933CA>C	uc001uon.2	-	9	9671	c.9082_9082TG>G	c.(9082-9084)gacfs	p.D3028fs	SACS_uc001uoo.2_Frame_Shift_Del_p.D2881fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3028					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		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)		AGTAAATTGTCAAAAAATGGT	0.353												
KL	9365	broad.mit.edu	37	13	33638206	33638206	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:33638205_33638205GT>G	uc001uus.3	+	4	2929	c.2921_2921GT>G	c.(2920-2922)agtfs	p.S974fs		NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	974					aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	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			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	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)		ACTGAGTGCAGTTTTTTTCAC	0.378												
UGGT2	55757	broad.mit.edu	37	13	96579593	96579593	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:96579592_96579592TA>T	uc001vmt.3	-	18	2148	c.1978_splice	c.e18-1	p.G660_splice		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	660					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TAATGTGCCCTAAAAAAACAA	0.289												
FARP1	10160	broad.mit.edu	37	13	99092237	99092237	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:99092236_99092236TG>T	uc001vnh.3	+	22	2787	c.2548_2548TG>T	c.(2548-2550)tggfs	p.W850fs	FARP1_uc001vnj.3_Frame_Shift_Del_p.W819fs	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	819	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CGAAGACGAGTGGGGGGTGCC	0.617												
ITGBL1	9358	broad.mit.edu	37	13	102359214	102359215	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr13:102359213_102359214CTG>C	uc001vpb.3	+	8	1459_1460	c.1240_1241CTG>C	c.(1240-1242)ctgfs	p.L414fs	ITGBL1_uc010agb.3_Frame_Shift_Del_p.L365fs|ITGBL1_uc001vpc.4_Frame_Shift_Del_p.L273fs	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	414	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGCAAGAATCTGTGTGAATCA	0.490												
TEP1	7011	broad.mit.edu	37	14	20846338	20846338	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:20846337_20846337AC>A	uc001vxe.3	-	38	5607	c.5567_5567GT>T	c.(5566-5568)gttfs	p.V1856fs	TEP1_uc010ahk.3_Frame_Shift_Del_p.V1199fs|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Frame_Shift_Del_p.V1748fs|TEP1_uc010tlh.1_Frame_Shift_Del_p.V194fs	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1856					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACAGCCACAACCCCCCCAGG	0.627												
NID2	22795	broad.mit.edu	37	14	52481919	52481919	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:52481918_52481918CG>C	uc001wzo.3	-	14	3338	c.3104_3104CG>G	c.(3103-3105)cggfs	p.R1035fs	NID2_uc010tqs.2_Frame_Shift_Del_p.R987fs|NID2_uc010tqt.1_Frame_Shift_Del_p.R1035fs|NID2_uc001wzp.3_Frame_Shift_Del_p.R1035fs	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1035	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGGTCATCCCGGGGGGTGCC	0.627												
KTN1	3895	broad.mit.edu	37	14	56137475	56137475	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:56137474_56137474GA>G	uc001xcb.3	+	35	3597	c.3295_3295GA>G	c.(3295-3297)gaafs	p.E1099fs	KTN1_uc001xcc.3_Frame_Shift_Del_p.E1099fs|KTN1_uc001xcd.3_Frame_Shift_Del_p.E1076fs|KTN1_uc001xce.3_Frame_Shift_Del_p.E1070fs|KTN1_uc010trb.2_Frame_Shift_Del_p.E1099fs|KTN1_uc001xcf.1_Frame_Shift_Del_p.E1076fs|KTN1_uc010aoq.3_Frame_Shift_Del_p.E365fs|KTN1_uc010trc.2_Frame_Shift_Del_p.E104fs|KTN1_uc001xcg.3_Frame_Shift_Del_p.E60fs	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	1099					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GCATGGATTTGAAAAAAAGGC	0.318			T	RET	papillary thryoid							
SNW1	22938	broad.mit.edu	37	14	78197430	78197430	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:78197429_78197429AT>A	uc010tvn.1	-	9	962	c.935_935AT>T	c.(934-936)atgfs	p.M312fs	SNW1_uc001xuf.3_Frame_Shift_Del_p.M312fs|SNW1_uc010tvm.2_Frame_Shift_Del_p.M237fs			Q13573	SNW1_HUMAN	Homo sapiens SNW domain containing 1 (SNW1), mRNA.	312	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TTTCTGAGCCATTTTTCTCTC	0.418												
ZC3H14	79882	broad.mit.edu	37	14	89069238	89069238	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:89069237_89069237GC>G	uc001xww.3	+	11	1805	c.1580_1580GC>G	c.(1579-1581)agcfs	p.S527fs	ZC3H14_uc010twd.2_Frame_Shift_Del_p.S527fs|ZC3H14_uc010twe.2_Frame_Shift_Del_p.S527fs|ZC3H14_uc001xwx.3_Intron|ZC3H14_uc010twf.2_Intron|ZC3H14_uc001xwy.3_Intron|ZC3H14_uc010twg.2_Intron|ZC3H14_uc001xxa.3_Frame_Shift_Del_p.S72fs|ZC3H14_uc001xxc.3_Intron|ZC3H14_uc001xxb.3_Intron	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	527						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GGTGTCCCCAGCCCCCCAGGA	0.468												
TRIP11	9321	broad.mit.edu	37	14	92472698	92472698	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:92472697_92472697CT>C	uc001xzy.3	-	10	1997	c.1623_1623AG>G	c.(1621-1623)aagfs	p.K541fs	TRIP11_uc010auf.2_Frame_Shift_Del_p.K277fs	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	541					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GATGAACTCTCTTTTTTTCAT	0.308			T	PDGFRB	AML							
C14orf109	26175	broad.mit.edu	37	14	93652903	93652904	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr14:93652902_93652903C>CA	uc001ybk.4	+	1	380_381	c.282_283C>CA	c.(280-285)cccaaafs	p.P94fs	MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc010auo.3_Frame_Shift_Ins_p.P132fs|C14orf109_uc021sax.1_Frame_Shift_Ins_p.P94fs	NM_015676	NP_056491	Q8N6I4	CN109_HUMAN	Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 2, mRNA.	126						integral to membrane				kidney(1)	1		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		GAGCTGATCCCAAAACAGTGGG	0.416												
INO80	54617	broad.mit.edu	37	15	41384315	41384317	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:41384314_41384316GTTC>G	uc001zni.3	-	4	659_661	c.446_448GAAC>C	c.(445-450)gaactc>gCtc	p.149_150EL>A	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	149	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGAGATTGAGTTCTTCTTCATC	0.379												
VPS13C	54832	broad.mit.edu	37	15	62257063	62257063	+	Splice_Site	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:62257062_62257062TA>T	uc002agz.3	-	31	3143	c.3052_splice	c.e31-1	p.V1018_splice	VPS13C_uc002aha.3_Splice_Site_p.V975_splice|VPS13C_uc002ahb.2_Splice_Site_p.V1018_splice|VPS13C_uc002ahc.2_Splice_Site_p.V975_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1018					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAAGGCCACCTAAAAATGTTT	0.373												
SIN3A	25942	broad.mit.edu	37	15	75699402	75699403	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:75699401_75699402C>CA	uc002bai.3	-	8	1660_1661	c.1401_1402G>TG	c.(1399-1404)tttgatfs	p.F467fs	SIN3A_uc002baj.3_Frame_Shift_Ins_p.F467fs|SIN3A_uc010uml.2_Frame_Shift_Ins_p.F467fs	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	467	Interaction with REST (By similarity).|Interaction with SAP30 (By similarity).|PAH 3.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTCACCTTATCAAAAAATAACG	0.396												
KIF7	374654	broad.mit.edu	37	15	90188351	90188351	+	Frame_Shift_Del	DEL	G	G	-	rs147779399	by1000genomes	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:90188350_90188350AG>A	uc002bof.2	-	9	2162	c.2085_2085CT>T	c.(2083-2085)cctfs	p.P695fs	KIF7_uc010upw.1_Frame_Shift_Del_p.P181fs	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	695					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGCTGTGGCAGGGGGGACCT	0.642												
C15orf32	145858	broad.mit.edu	37	15	93015569	93015570	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr15:93015568_93015569G>GT	uc002brc.1	+	0	662_663	c.190_191G>GT	c.(190-192)gttfs	p.V64fs	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	64										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			ACTAGCCCTTGTTGGGGTGTTG	0.475												
RSL1D1	26156	broad.mit.edu	37	16	11931770	11931771	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:11931769_11931770C>CT	uc002dbp.1	-	8	1420_1421	c.1347_1348G>AG	c.(1345-1350)aaagatfs	p.K449fs	RSL1D1_uc010buv.1_Frame_Shift_Ins_p.K448fs|RSL1D1_uc010uyw.1_Frame_Shift_Ins_p.K229fs	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	449					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						tgtctcgcatcttttttcccca	0.460												
RSL1D1	26156	broad.mit.edu	37	16	11933782	11933784	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:11933781_11933783CTCT>C	uc002dbp.1	-	7	988_990	c.915_917AGAG>G	c.(913-918)aagagg>aaGg	p.R306del	RSL1D1_uc010buv.1_In_Frame_Del_p.R305del|RSL1D1_uc010uyw.1_In_Frame_Del_p.R86del|RSL1D1_uc010buw.2_Non-coding_Transcript	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	306					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						agcctgctgcctcttcttcttcc	0.399												
NDE1	54820	broad.mit.edu	37	16	15788039	15788039	+	Frame_Shift_Del	DEL	G	G	-	rs150492774		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:15788038_15788038CG>C	uc002ddt.1	+	5	763	c.720_720CG>C	c.(718-720)accfs	p.T240fs	NDE1_uc010uzy.2_Frame_Shift_Del_p.T240fs|NDE1_uc002dds.3_Frame_Shift_Del_p.T240fs|NDE1_uc002ddu.1_Frame_Shift_Del_p.T177fs	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog 1 (A. nidulans) (NDE1), transcript variant 2, mRNA.	240	Interaction with CENPF (By similarity).				G2/M transition of mitotic cell cycle|cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACGACTCCACCGGGGGGACCC	0.567												
NETO2	81831	broad.mit.edu	37	16	47165886	47165887	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:47165885_47165886G>GT	uc002eer.2	-	1	498_499	c.85_86C>AC	c.(85-87)accfs	p.T29fs	NETO2_uc010vgf.2_Frame_Shift_Ins_p.T29fs	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	29						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTTACCTTGGGTTTTTTGGGCC	0.356										HNSCC(25;0.065)		
VAC14	55697	broad.mit.edu	37	16	70778435	70778435	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr16:70778434_70778434CG>C	uc002ezm.3	-	12	1678	c.1420_1420CG>G	c.(1420-1422)gcafs	p.A474fs	VAC14_uc010cfw.3_Frame_Shift_Del_p.A240fs|VAC14_uc002ezn.3_Frame_Shift_Del_p.A39fs|VAC14_uc010cfx.1_5'UTR	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	474					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GTCTGGCCTGCGGGGGAGGAA	0.662												
PFAS	5198	broad.mit.edu	37	17	8167585	8167586	+	Frame_Shift_Ins	INS	-	-	C	rs138697840	byFrequency	TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:8167584_8167585G>GC	uc002gkr.3	+	15	1987_1988	c.1846_1847G>GC	c.(1846-1848)gccfs	p.A616fs	PFAS_uc010vuv.2_Frame_Shift_Ins_p.A192fs|PFAS_uc010cnw.1_Frame_Shift_Ins_p.A116fs|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	616					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAGGGGGATGCCCCCCCGACA	0.594												
DNAH9	1770	broad.mit.edu	37	17	11572475	11572475	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:11572474_11572474AG>A	uc002gne.3	+	15	2893	c.2825_2825AG>A	c.(2824-2826)aagfs	p.K942fs	DNAH9_uc010coo.3_Frame_Shift_Del_p.K236fs	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	942	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGGAGTGAAGGGGGGTTTC	0.478												
NCOR1	9611	broad.mit.edu	37	17	15975514	15975514	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:15975513_15975513TC>T	uc002gpo.3	-	28	4110	c.3841_3841GA>A	c.(3841-3843)agtfs	p.S1281fs	NCOR1_uc002gpn.3_Frame_Shift_Del_p.S1297fs|NCOR1_uc002gpp.1_Frame_Shift_Del_p.S1188fs|NCOR1_uc010vwb.2_Intron|NCOR1_uc010coy.3_Frame_Shift_Del_p.S189fs|NCOR1_uc010vwc.2_Frame_Shift_Del_p.S92fs	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1281	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAATGAGGACTCCCCCTGGGT	0.393												
EFCAB5	374786	broad.mit.edu	37	17	28296061	28296062	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:28296060_28296061G>GA	uc002het.3	+	3	634_635	c.442_443G>GA	c.(442-444)gaafs	p.E148fs	EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.2_Frame_Shift_Ins_p.E92fs|EFCAB5_uc010wbk.2_Intron|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Frame_Shift_Ins_p.E27fs|EFCAB5_uc010csf.3_Frame_Shift_Ins_p.E27fs	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	148							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAAAAAGGCTGAAAAAAAACTC	0.371												
KRT15	3866	broad.mit.edu	37	17	39674981	39674981	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:39674980_39674980TC>T	uc002hwy.3	-	0	291	c.100_100GA>A	c.(100-102)agtfs	p.S34fs	KRT15_uc002hwz.3_5'UTR|KRT15_uc002hxa.3_5'UTR|KRT15_uc002hxb.1_Intron	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	34	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CCAGAGAGACTCCCCCCACCA	0.587												
ADAM11	4185	broad.mit.edu	37	17	42837126	42837126	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:42837125_42837125TG>T	uc002ihh.3	+	1	97	c.97_97TG>T	c.(97-99)tggfs	p.W33fs	ADAM11_uc010wjd.2_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	33					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGCTCTGCGATGGGGGGGCTT	0.662												
CBX1	10951	broad.mit.edu	37	17	46154355	46154355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:46154354_46154354GT>G	uc002ind.4	-	1	494	c.13_13AC>C	c.(13-15)caafs	p.Q5fs	CBX1_uc002ine.4_Frame_Shift_Del_p.Q5fs	NM_006807	NP_006798	P83916	CBX1_HUMAN	Homo sapiens chromobox homolog 1 (CBX1), transcript variant 1, mRNA.	5						nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						TTCTTGTTTTGTTTTTTCCCC	0.443												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	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												
UBE2O	63893	broad.mit.edu	37	17	74396262	74396263	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:74396261_74396262G>GT	uc002jrm.4	-	7	1186_1187	c.1121_1122C>AC	c.(1120-1122)aacfs	p.N374fs	UBE2O_uc002jrn.4_Frame_Shift_Ins_p.N374fs|UBE2O_uc002jrl.4_5'Flank	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	374							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCTGGGCGCAGTTTTTTTCTGG	0.559												
GAA	2548	broad.mit.edu	37	17	78090814	78090814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr17:78090813_78090813TG>T	uc002jxp.3	+	15	2603	c.2236_2236TG>T	c.(2236-2238)tggfs	p.W746fs	GAA_uc002jxo.3_Frame_Shift_Del_p.W746fs|GAA_uc002jxq.3_Frame_Shift_Del_p.W746fs	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	746			W -> C (in dbSNP:rs1800312).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCAGCTCCTGTGGGGGGAGGC	0.637												
RAB12	201475	broad.mit.edu	37	18	8636350	8636350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:8636349_8636349GA>G	uc002knp.3	+	4	898	c.615_615GA>G	c.(613-615)ctgfs	p.L205fs		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	Homo sapiens RAB12, member RAS oncogene family (RAB12), mRNA.	205					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						ATGACATTCTGAAAAAGGTAA	0.333												
CEP192	55125	broad.mit.edu	37	18	13049146	13049146	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:13049145_13049145TA>T	uc010xac.2	+	15	2435	c.2355_2355TA>T	c.(2353-2355)cttfs	p.L785fs	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Frame_Shift_Del_p.L310fs|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krs.1_Frame_Shift_Del_p.L526fs	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	380										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGAAATACCTTAAAAAAACAG	0.328												
CDH2	1000	broad.mit.edu	37	18	25570168	25570168	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:25570167_25570167CA>C	uc002kwg.2	-	9	1951	c.1492_1492TG>G	c.(1492-1494)gccfs	p.A498fs	CDH2_uc010xbn.1_Frame_Shift_Del_p.A467fs	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	498	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGATTGGGGGCAAAATAAGGG	0.453												
ASXL3	80816	broad.mit.edu	37	18	31318771	31318772	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:31318770_31318771G>GA	uc010dmg.1	+	10	1457_1458	c.1402_1403G>GA	c.(1402-1404)gaafs	p.E468fs	ASXL3_uc002kxq.2_Frame_Shift_Ins_p.E175fs	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATGCCAGGATGAAAATCATAAG	0.411												
WDR7	23335	broad.mit.edu	37	18	54424020	54424020	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr18:54424019_54424019CT>C	uc002lgk.1	+	14	2406	c.2195_2195CT>C	c.(2194-2196)tctfs	p.S732fs	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.S732fs	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	732										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AAAGGGGGCTCTTTTTTAACT	0.428												
REXO1	57455	broad.mit.edu	37	19	1827647	1827647	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:1827646_1827646GT>G	uc002lua.4	-	1	1237	c.1142_1142AC>C	c.(1141-1143)accfs	p.T381fs	REXO1_uc010dsr.1_Frame_Shift_Del_p.T335fs	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	381						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		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)		TGGGGCCCCGGTTTTTTTCTT	0.682												
PIP5K1C	23396	broad.mit.edu	37	19	3644115	3644115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:3644114_3644114GC>G	uc002lyj.2	-	11	1570	c.1481_1481GC>C	c.(1480-1482)gccfs	p.A494fs	PIP5K1C_uc010xhq.2_Frame_Shift_Del_p.A494fs|PIP5K1C_uc010xhr.2_Frame_Shift_Del_p.A494fs	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	494					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)		GTAGCTGCGGGCCCCCCGCAG	0.706												
LRG1	116844	broad.mit.edu	37	19	4538453	4538454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:4538452_4538453C>CG	uc002mau.3	-	1	554_555	c.543_544G>CG	c.(541-546)cccgggfs	p.P181fs	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	181						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGCCCGGGGGGCAGTT	0.619												
INSR	3643	broad.mit.edu	37	19	7117191	7117191	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:7117190_7117190GC>G	uc002mgd.1	-	21	4135	c.4026_4026GC>C	c.(4024-4026)ggcfs	p.G1342fs	INSR_uc002mge.1_Frame_Shift_Del_p.G1330fs	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1342					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity	p.G1342fs*23(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCCATCCCGGCCCCCCGCCT	0.592												
MUC16	94025	broad.mit.edu	37	19	9059157	9059157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:9059156_9059156GT>G	uc002mkp.3	-	2	28494	c.28290_28290AC>C	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						ATGGAGGGCTGTTTTTTTCCA	0.512												
RAD23A	5886	broad.mit.edu	37	19	13059096	13059096	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:13059095_13059095TC>T	uc002mvw.1	+	2	448	c.339_339TC>T	c.(337-339)catfs	p.H113fs	RAD23A_uc002mvz.1_Frame_Shift_Del_p.H113fs|RAD23A_uc010xmw.1_5'UTR	NM_005053	NP_005044	P54725	RD23A_HUMAN	Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA.	113					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GCATGTCCCATCCCCCACCTG	0.667								Nucleotide excision repair (NER)				
WIZ	58525	broad.mit.edu	37	19	15533942	15533942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:15533941_15533941TG>T	uc002nbc.3	-	7	2876	c.2853_2853CA>A	c.(2851-2853)ccafs	p.P951fs	WIZ_uc002nba.4_Frame_Shift_Del_p.P818fs|WIZ_uc002nbb.4_Frame_Shift_Del_p.P777fs	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1634						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACTCCTCAGGTGGGGGGTCCG	0.617												
JAK3	3718	broad.mit.edu	37	19	17949077	17949078	+	Frame_Shift_Ins	INS	-	-	CCAGGCTGTCAGCAGG			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:17949076_17949077T>TCCAGGCTGTCAGCAGG	uc002nhn.4	-	10	1664_1665	c.1564_1565A>CCTGCTGACAGCCTGGA	c.(1564-1566)gagfs	p.E522fs	JAK3_uc010ebh.3_Non-coding_Transcript|JAK3_uc002nho.2_Frame_Shift_Ins_p.E522fs|JAK3_uc010xpx.1_3'UTR	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	522	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TCTTACCCACTCCAGGCTGTCA	0.540		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""							
UBA2	10054	broad.mit.edu	37	19	34943022	34943022	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:34943021_34943021AG>A	uc002nvk.3	+	9	1077	c.1007_1007AG>A	c.(1006-1008)aagfs	p.K336fs	UBA2_uc010xrx.1_Frame_Shift_Del_p.K209fs|UBA2_uc002nvl.3_Frame_Shift_Del_p.K240fs	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	336					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTAGCAGAAAAGGGGGATGGA	0.418												
ZNF181	339318	broad.mit.edu	37	19	35231880	35231881	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:35231879_35231880T>TA	uc002nvu.3	+	3	1056_1057	c.593_594T>TA	c.(592-594)atafs	p.I198fs	ZNF181_uc010xsb.1_Frame_Shift_Ins_p.I197fs|ZNF181_uc010xsc.1_Frame_Shift_Ins_p.I133fs	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGTCAGTTATAAAAAATGAGA	0.351												
ZNF780A	284323	broad.mit.edu	37	19	40581188	40581188	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:40581187_40581187GT>G	uc010xvh.2	-	5	1313	c.1165_1165AC>C	c.(1165-1167)ccgfs	p.P389fs	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Frame_Shift_Del_p.P388fs|ZNF780A_uc002omz.3_Frame_Shift_Del_p.P388fs	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CATTCAAACGGTTTTTCACCT	0.403												
ZNF428	126299	broad.mit.edu	37	19	44112175	44112180	+	In_Frame_Del	DEL	TCCTCT	TCCTCT	-	rs12980960		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:44112174_44112179CTCCTCT>C	uc002oxa.3	-	2	592_597	c.157_162AGAGGAG>G	c.(157-162)gaggag>G	p.EE53del	SRRM5_uc002oxb.2_Intron	NM_182498	NP_872304	Q96B54	ZN428_HUMAN	Homo sapiens zinc finger protein 428 (ZNF428), mRNA.	53	Glu-rich.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				CGTCAGTGGTctcctcttcctcctcc	0.626												
KLK1	3816	broad.mit.edu	37	19	51326963	51326964	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:51326962_51326963T>TC	uc002ptk.1	-	0	81_82	c.42_43A>GA	c.(40-45)gggactfs	p.G14fs	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	14					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653												
SIGLEC6	946	broad.mit.edu	37	19	52034030	52034031	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:52034029_52034030T>TG	uc002pwy.3	-	2	819_820	c.611_612A>CA	c.(610-612)ccafs	p.P204fs	SIGLEC6_uc002pwz.3_Frame_Shift_Ins_p.P204fs|SIGLEC6_uc010ydb.2_Frame_Shift_Ins_p.P168fs|SIGLEC6_uc010ydc.2_Frame_Shift_Ins_p.P204fs|SIGLEC6_uc002pxa.3_Frame_Shift_Ins_p.P204fs|SIGLEC6_uc010eoz.2_Frame_Shift_Ins_p.P193fs|SIGLEC6_uc010epa.2_Frame_Shift_Ins_p.P193fs|SIGLEC6_uc010epb.2_Frame_Shift_Ins_p.P157fs	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	204	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		p.T203N(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCTGGGGCCGTGGGGTGATTGT	0.634												
SIGLEC5	8778	broad.mit.edu	37	19	52131208	52131208	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:52131207_52131207TG>T	uc002pxe.3	-	4	1016	c.877_877CA>A	c.(877-879)atcfs	p.I293fs		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	293	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GTATTGGAGATGGGGGTGGCG	0.627												
EPN1	29924	broad.mit.edu	37	19	56203184	56203184	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr19:56203183_56203183TG>T	uc002qlw.3	+	6	1168	c.826_826TG>T	c.(826-828)tggfs	p.W276fs	EPN1_uc002qlv.3_Frame_Shift_Del_p.W251fs|EPN1_uc010etd.3_Frame_Shift_Del_p.W276fs|EPN1_uc002qlx.3_Frame_Shift_Del_p.W362fs	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	276	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CACAGACCCCTGGGGGGGCCC	0.692												
RALGAPB	57148	broad.mit.edu	37	20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:37146232_37146232AC>A	uc002xiw.3	+	7	1392	c.1135_1135AC>A	c.(1135-1137)accfs	p.T379fs	RALGAPB_uc010zvz.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xix.3_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Del_p.T106fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	379					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACA	0.443												
SLC35C2	51006	broad.mit.edu	37	20	44979495	44979501	+	Frame_Shift_Del	DEL	AGCAGAT	AGCAGAT	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:44979494_44979500CAGCAGAT>C	uc010zxp.2	-	9	1047_1053	c.954_960ATCTGCTG>G	c.(952-960)catctgctgfs	p.H318fs	SLC35C2_uc002xro.3_Frame_Shift_Del_p.H289fs|SLC35C2_uc002xrp.3_Frame_Shift_Del_p.H268fs|SLC35C2_uc002xrq.3_Frame_Shift_Del_p.H289fs|SLC35C2_uc002xrr.3_Frame_Shift_Del_p.H289fs|SLC35C2_uc010zxn.2_Frame_Shift_Del_p.H154fs|SLC35C2_uc010zxo.2_Frame_Shift_Del_p.H175fs	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	289					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				TCTGATCGCCCAGCAGATGAGCTGCCA	0.585												
ZNF831	128611	broad.mit.edu	37	20	57769451	57769451	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr20:57769450_57769450TC>T	uc002yan.3	+	0	3376	c.3376_3376TC>T	c.(3376-3378)tccfs	p.S1126fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1126						intracellular	nucleic acid binding|zinc ion binding			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)					CGACCCGTGTTCCCCCCTCCA	0.667												
SIM2	6493	broad.mit.edu	37	21	38117346	38117346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr21:38117345_38117345AC>A	uc002yvr.2	+	9	1540	c.1484_1484AC>A	c.(1483-1485)aacfs	p.N495fs	SIM2_uc002yvq.3_Frame_Shift_Del_p.N495fs	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	495	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CATTATGCCAACCCCCTAGTG	0.602												
LIF	3976	broad.mit.edu	37	22	30639806	30639808	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:30639805_30639807AAGG>A	uc003agz.2	-	2	554_556	c.442_444CCTT>T	c.(442-444)ctt>T	p.L148del	LIF_uc011aks.1_In_Frame_Del_p.88_89P*>L|MGC20647_uc003aha.3_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	Homo sapiens leukemia inhibitory factor (cholinergic differentiation factor) (LIF), mRNA.	148					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GCACGTTGCTAAGGAGGCCTCGC	0.616												
C22orf28	51493	broad.mit.edu	37	22	32794006	32794007	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:32794005_32794006A>AT	uc003amm.2	-	6	867_868	c.736_737T>AT	c.(736-738)atgfs	p.M246fs	C22orf28_uc011ama.1_Non-coding_Transcript	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	246					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding	p.M246fs*11(2)		breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						GTCGATGCCCATTTTTTTAGCA	0.460												
DDX17	10521	broad.mit.edu	37	22	38895455	38895455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:38895454_38895454TC>T	uc003avy.4	-	2	592	c.489_489GA>A	c.(487-489)ggafs	p.G163fs	DDX17_uc003avx.4_Frame_Shift_Del_p.G163fs|DDX17_uc011anu.2_Frame_Shift_Del_p.G76fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCA	0.383												
FAM83F	113828	broad.mit.edu	37	22	40417800	40417800	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:40417799_40417799CG>C	uc003ayk.1	+	3	1379	c.1285_1285CG>C	c.(1285-1287)cggfs	p.R429fs		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	429										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AGAAGCGGCCCGGGGGGAGGC	0.667												
MKL1	57591	broad.mit.edu	37	22	40816542	40816542	+	Frame_Shift_Del	DEL	G	G	-	rs34028511		TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	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							
CELSR1	9620	broad.mit.edu	37	22	46931227	46931227	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:46931226_46931226GC>G	uc003bhw.1	-	0	1842	c.1842_1842GC>C	c.(1840-1842)ggcfs	p.G614fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	614	Cadherin 4.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCGCTGCCGCCCCCCAGAA	0.657												
IL17REL	400935	broad.mit.edu	37	22	50437730	50437731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chr22:50437729_50437730A>AG	uc003bje.1	-	8	823_824	c.591_592T>CT	c.(589-594)ccctttfs	p.P197fs		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.	197										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTTTTCAAAGGGGCAGATCT	0.658												
FRMD7	90167	broad.mit.edu	37	X	131212733	131212734	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-5733-01A-11D-1600-08	TCGA-CG-5733-11A-01D-1600-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76014e30-76ae-45ca-8755-e51d80d6dc83	616936ac-232f-471b-ba28-d7efdde4ce51	g.chrX:131212732_131212733G>GA	uc004ewn.3	-	11	1490_1491	c.1312_1313C>TC	c.(1312-1314)tcafs	p.S438fs	FRMD7_uc022cdy.1_Frame_Shift_Ins_p.S318fs|FRMD7_uc011muy.2_Frame_Shift_Ins_p.S423fs	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	438					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ACTCCTCTCTGAAAAAATGTCT	0.436