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
SAMD11	148398	broad.mit.edu	37	1	879297	879297	+	Missense_Mutation	SNP	C	C	T	rs140566193		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:879297C>T	uc001abw.1	+	14	1890	c.1810C>T	c.(1810-1812)CGC>TGC	p.R604C	SAMD11_uc001abx.1_Missense_Mutation_p.R467C	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	604	SAM.					nucleus					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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGTGGCCAGGCGCCTGGGCCG	0.672												
AGRN	375790	broad.mit.edu	37	1	981392	981392	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:981392C>T	uc001ack.1	+	16	2779	c.2729C>T	c.(2728-2730)GCG>GTG	p.A910V		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	910					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGTTCGGTGCGCGGTGCGTG	0.662												
PANK4	55229	broad.mit.edu	37	1	2445456	2445456	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:2445456C>T	uc001ajm.1	-	12	1569	c.1560G>A	c.(1558-1560)CCG>CCA	p.P520P	PANK4_uc010nza.1_Silent_p.P481P	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	520					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGTAGGGATCCGGGAAGTTGA	0.652												
PRDM16	63976	broad.mit.edu	37	1	3328750	3328750	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:3328750C>T	uc001akf.2	+	9	2069	c.1989C>T	c.(1987-1989)GCC>GCT	p.A663A	PRDM16_uc001akc.2_Silent_p.A663A|PRDM16_uc001akd.2_Silent_p.A663A|PRDM16_uc001ake.2_Silent_p.A663A|PRDM16_uc009vlh.2_Silent_p.A364A	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	663					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACAGCGTGGCCGAGGTGCCTG	0.682			T	EVI1	MDS|AML							
CHD5	26038	broad.mit.edu	37	1	6188120	6188120	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:6188120C>T	uc001amb.1	-	25	3989	c.3889G>A	c.(3889-3891)GAG>AAG	p.E1297K	CHD5_uc001alz.1_Missense_Mutation_p.E154K|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1297					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCGTCCTCCTCGCGCACCACG	0.657												
PLEKHG5	57449	broad.mit.edu	37	1	6534150	6534150	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:6534150G>A	uc001ano.1	-	8	783	c.682C>T	c.(682-684)CTG>TTG	p.L228L	PLEKHG5_uc001ann.1_Silent_p.L209L|PLEKHG5_uc001anq.1_Silent_p.L249L|PLEKHG5_uc001anp.1_Silent_p.L249L|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Silent_p.L12L|PLEKHG5_uc010nzr.1_Silent_p.L241L|PLEKHG5_uc001ank.1_Silent_p.L172L|PLEKHG5_uc009vmb.1_Silent_p.L172L|PLEKHG5_uc001anl.1_Silent_p.L172L|PLEKHG5_uc001anm.1_Silent_p.L172L	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	228					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GCTGGCCGCAGAATCGGCAAA	0.672												
RERE	473	broad.mit.edu	37	1	8422883	8422883	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:8422883G>A	uc001ape.2	-	17	2572	c.1762C>T	c.(1762-1764)CGG>TGG	p.R588W	RERE_uc001apf.2_Missense_Mutation_p.R588W|RERE_uc010nzx.1_Missense_Mutation_p.R320W|RERE_uc001apd.2_Missense_Mutation_p.R34W	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	588					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGCTTCTTCCGACCACTGCGT	0.622												
RERE	473	broad.mit.edu	37	1	8482843	8482843	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:8482843G>A	uc001ape.2	-	13	2038	c.1228C>T	c.(1228-1230)CAG>TAG	p.Q410*	RERE_uc001apf.2_Nonsense_Mutation_p.Q410*|RERE_uc010nzx.1_Nonsense_Mutation_p.Q142*|RERE_uc001apd.2_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	410	SANT.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTCCCGTACTGCCTGAGTCCC	0.368												
CLSTN1	22883	broad.mit.edu	37	1	9804642	9804642	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:9804642T>C	uc001aqh.2	-	8	1804	c.1045A>G	c.(1045-1047)ATG>GTG	p.M349V	CLSTN1_uc001aqi.2_Missense_Mutation_p.M339V|CLSTN1_uc010oag.1_Missense_Mutation_p.M349V	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	349	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	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)		GGCAGGCCCATGGTCCAGTTG	0.647												
CASZ1	54897	broad.mit.edu	37	1	10725422	10725422	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:10725422G>T	uc001aro.2	-	5	543	c.223C>A	c.(223-225)CGG>AGG	p.R75R	CASZ1_uc001arp.1_Silent_p.R75R|CASZ1_uc009vmx.2_Silent_p.R99R	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGGGGGGCCCGGGCTGCCCCA	0.701												
PTCHD2	57540	broad.mit.edu	37	1	11589919	11589919	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:11589919G>T	uc001ash.3	+	15	3143	c.3005G>T	c.(3004-3006)CGG>CTG	p.R1002L		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1002	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCGGCGGTGCGGCCACTAGTG	0.622												
TNFRSF8	943	broad.mit.edu	37	1	12144597	12144597	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:12144597G>A	uc001atq.2	+	2	362	c.140G>A	c.(139-141)CGC>CAC	p.R47H	TNFRSF8_uc010obc.1_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	47	TNFR-Cys 1.|Extracellular (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGTTACCGCTGCCCCATG	0.567												
PDPN	10630	broad.mit.edu	37	1	13933720	13933720	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:13933720C>T	uc001avd.2	+	2	397	c.348C>T	c.(346-348)GGC>GGT	p.G116G	PDPN_uc001avc.2_Silent_p.G116G|PDPN_uc009vob.2_5'UTR|PDPN_uc009voc.2_5'UTR|PDPN_uc001ave.2_5'UTR|PDPN_uc001avf.2_5'UTR	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	lung type-I cell membrane-associated	40	Extracellular (Potential).				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				ovary(2)	2	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TGGAAGGCGGCGTTGCCATGC	0.522												
AGMAT	79814	broad.mit.edu	37	1	15909876	15909876	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:15909876C>T	uc001awv.1	-	2	430	c.287G>A	c.(286-288)CGC>CAC	p.R96H	DNAJC16_uc001awu.2_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase) precursor	96					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			skin(1)	1		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCGGATGCGGCGAGGTCC	0.483												
PLEKHM2	23207	broad.mit.edu	37	1	16053855	16053855	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:16053855G>A	uc010obo.1	+	9	1515	c.1288G>A	c.(1288-1290)GCT>ACT	p.A430T		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	430					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GTGCTCCCGTGCTGAGCCCCC	0.647												
ARHGEF19	128272	broad.mit.edu	37	1	16531855	16531855	+	Silent	SNP	C	C	T	rs150897805		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:16531855C>T	uc001ayc.1	-	10	1784	c.1647G>A	c.(1645-1647)GCG>GCA	p.A549A	ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_Silent_p.A26A	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	549	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCTTGAGCGCATTGAAGG	0.612												
PADI4	23569	broad.mit.edu	37	1	17682614	17682614	+	Missense_Mutation	SNP	G	G	A	rs142426054	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:17682614G>A	uc001baj.2	+	12	1475	c.1447G>A	c.(1447-1449)GAC>AAC	p.D483N		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	483					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GCCAGCACCCGACAGGAAGGT	0.592												
UBR4	23352	broad.mit.edu	37	1	19500110	19500110	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:19500110G>T	uc001bbi.2	-	23	2992	c.2988C>A	c.(2986-2988)GCC>GCA	p.A996A	UBR4_uc001bbm.1_Silent_p.A207A	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	996	Helical; (Potential).				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)		GAAGGGCACAGGCCTCCTGGA	0.433												
PQLC2	54896	broad.mit.edu	37	1	19653763	19653763	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:19653763G>A	uc001bby.2	+	8	1013	c.661G>A	c.(661-663)GCG>ACG	p.A221T	PQLC2_uc001bbz.2_Missense_Mutation_p.A156T|PQLC2_uc001bca.2_Missense_Mutation_p.A221T|PQLC2_uc001bcb.2_Missense_Mutation_p.A110T|PQLC2_uc001bcc.2_Missense_Mutation_p.A110T	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	221	PQ-loop 2.|Helical; (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTCTGTTCGCGCTGGTGAT	0.557												
PLA2G2F	64600	broad.mit.edu	37	1	20471085	20471085	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:20471085C>A	uc009vpp.1	+	4	425	c.327C>A	c.(325-327)GCC>GCA	p.A109A		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	66					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GCTGCCACGCCCACGACTGCT	0.507												
NBPF3	84224	broad.mit.edu	37	1	21771652	21771652	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:21771652G>A	uc001ber.2	+	2	423	c.73G>A	c.(73-75)GGT>AGT	p.G25S	NBPF3_uc001bes.2_5'UTR|NBPF3_uc009vqb.2_Missense_Mutation_p.G25S|NBPF3_uc010odm.1_Missense_Mutation_p.G25S	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	25						cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCCCCATTCGGTGCACCAAG	0.587												
EPHA8	2046	broad.mit.edu	37	1	22924273	22924273	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:22924273C>T	uc001bfx.1	+	11	2160	c.2035C>T	c.(2035-2037)CGG>TGG	p.R679W		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	679	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		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;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGACAGAGGCGGGACTTCCT	0.652												
EXTL1	2134	broad.mit.edu	37	1	26349804	26349804	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:26349804G>A	uc001blf.2	+	1	1534	c.667G>A	c.(667-669)GGG>AGG	p.G223R		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	223	Lumenal (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCAGCCCGGGGTAGCCCT	0.687												
DHDDS	79947	broad.mit.edu	37	1	26795565	26795565	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:26795565G>T	uc001bml.2	+	9	1066	c.945G>T	c.(943-945)CAG>CAT	p.Q315H	DHDDS_uc001bmk.2_Missense_Mutation_p.Q316H|DHDDS_uc001bmm.2_Missense_Mutation_p.Q222H|DHDDS_uc001bmn.2_Missense_Mutation_p.Q276H|DHDDS_uc010ofd.1_Missense_Mutation_p.Q281H|uc001bmo.1_5'Flank	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b	315							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GCTTCCTGCAGGCCTTGGAAC	0.642												
RPS6KA1	6195	broad.mit.edu	37	1	26898685	26898685	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:26898685C>T	uc001bmr.1	+	20	2011	c.1848C>T	c.(1846-1848)AAC>AAT	p.N616N	RPS6KA1_uc010ofe.1_Silent_p.N524N|RPS6KA1_uc010off.1_3'UTR|RPS6KA1_uc001bms.1_Silent_p.N625N|RPS6KA1_uc009vsl.1_Silent_p.N459N	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	616	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CATTTGCCAACGGTCCCAGTG	0.567												
C1orf172	126695	broad.mit.edu	37	1	27278809	27278809	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:27278809C>T	uc001bni.1	-	2	152	c.63G>A	c.(61-63)CGG>CGA	p.R21R		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	21	Pro-rich.									large_intestine(1)|ovary(1)	2		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCTGTTGGCCGCTCCCACG	0.647												
WDTC1	23038	broad.mit.edu	37	1	27624505	27624505	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:27624505A>G	uc009vst.2	+	12	1670	c.1135A>G	c.(1135-1137)ACC>GCC	p.T379A	WDTC1_uc001bno.2_Missense_Mutation_p.T378A|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.T57A	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	379	TPR 1.						protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCAGCAGTGGACCCAAGCCAT	0.552												
FGR	2268	broad.mit.edu	37	1	27939440	27939440	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:27939440G>A	uc001boj.2	-	11	1721	c.1575C>T	c.(1573-1575)CCC>CCT	p.P525P	FGR_uc001boi.2_Silent_p.P228P|FGR_uc001bok.2_Silent_p.P525P|FGR_uc001bol.2_Silent_p.P525P|FGR_uc001bom.2_Silent_p.P525P	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	525					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)		TCTGATCCCCGGGCTGGTACT	0.617												
PEF1	553115	broad.mit.edu	37	1	32096220	32096220	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:32096220C>T	uc001bth.1	-	5	861	c.849G>A	c.(847-849)ATG>ATA	p.M283I	HCRTR1_uc010ogl.1_Intron|PEF1_uc001bte.1_3'UTR|PEF1_uc001btf.1_Missense_Mutation_p.M122I|PEF1_uc001btg.1_Missense_Mutation_p.M213I	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	283	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)		TGGGTCATAGCATCCGAGAAG	0.532												
KIAA1522	57648	broad.mit.edu	37	1	33235610	33235610	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:33235610C>T	uc001bvv.2	+	6	789	c.653C>T	c.(652-654)GCG>GTG	p.A218V	KIAA1522_uc001bvu.1_Missense_Mutation_p.A277V|KIAA1522_uc010ohm.1_Missense_Mutation_p.A229V|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	218											0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCCCTGCAGGCGCTGGAGGCG	0.706												
KIAA1522	57648	broad.mit.edu	37	1	33236271	33236271	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:33236271T>C	uc001bvv.2	+	6	1450	c.1314T>C	c.(1312-1314)CCT>CCC	p.P438P	KIAA1522_uc001bvu.1_Silent_p.P497P|KIAA1522_uc010ohm.1_Silent_p.P449P|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	438	Pro-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGAAGCGGCCTCCACCCCCTC	0.652												
ADC	113451	broad.mit.edu	37	1	33547940	33547940	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:33547940C>A	uc001bwr.2	+	4	677	c.90C>A	c.(88-90)GCC>GCA	p.A30A	ADC_uc001bws.2_Silent_p.A30A|ADC_uc009vue.2_Silent_p.A30A|ADC_uc001bwt.1_5'UTR|ADC_uc001bwu.2_Intron|ADC_uc001bwv.2_Intron|ADC_uc001bww.2_5'UTR|ADC_uc001bwx.1_5'UTR|ADC_uc001bwz.1_Silent_p.A30A|ADC_uc009vuf.1_Silent_p.A30A|ADC_uc001bwy.1_5'UTR|ADC_uc009vug.2_Silent_p.A30A	NM_052998	NP_443724	Q96A70	ADC_HUMAN	ODC antizyme inhibitor-2	30				MAGYLSESDFVMVEEGFSTRDLLKELTLGASQATT -> QQ GSSVASTEPGSGTWKDHGWHAQGASWMGSHIHPLLVIQ (in Ref. 3; BAB85531).	polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CTCTGGGGGCCTCACAGGCCA	0.622												
TRIM62	55223	broad.mit.edu	37	1	33613029	33613029	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:33613029C>T	uc001bxb.2	-	5	1815	c.1177G>A	c.(1177-1179)GAT>AAT	p.D393N		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	393	B30.2/SPRY.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				TGGTTGCCATCGTGCATCACG	0.617												
CSMD2	114784	broad.mit.edu	37	1	34401390	34401390	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:34401390G>A	uc001bxn.1	-	4	592	c.563C>T	c.(562-564)ACG>ATG	p.T188M	CSMD2_uc001bxm.1_Missense_Mutation_p.T228M	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	188	Sushi 1.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAGTCCCACGTGGCGCTGTT	0.627												
GJB4	127534	broad.mit.edu	37	1	35227549	35227549	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:35227549G>A	uc001bxv.1	+	2	1064	c.694G>A	c.(694-696)GAT>AAT	p.D232N	GJB4_uc001bxw.3_Missense_Mutation_p.D232N	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	232	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ATGCCTACCCGATACGTGCCC	0.622												
GJA4	2701	broad.mit.edu	37	1	35260154	35260154	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:35260154C>T	uc001bya.2	+	2	428	c.340C>T	c.(340-342)CGG>TGG	p.R114W	GJA4_uc009vul.2_Missense_Mutation_p.R190W|GJA4_uc009vum.1_Missense_Mutation_p.R114W	NM_002060	NP_002051	P35212	CXA4_HUMAN	connexin 37	114	Cytoplasmic (Potential).				cell-cell junction assembly	integral to plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGGGGAGCTGCGGGCACTGCC	0.652												
EIF2C1	26523	broad.mit.edu	37	1	36379454	36379454	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:36379454C>T	uc001bzl.2	+	13	1807	c.1594C>T	c.(1594-1596)CGT>TGT	p.R532C	EIF2C1_uc001bzk.2_Missense_Mutation_p.R457C|EIF2C1_uc009vuy.2_RNA	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	532	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAGGTGAAACGTGTCGGAGA	0.348												
ZC3H12A	80149	broad.mit.edu	37	1	37948615	37948615	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:37948615A>G	uc001cbb.3	+	6	1353	c.1203A>G	c.(1201-1203)TCA>TCG	p.S401S	ZC3H12A_uc001cbc.1_Silent_p.S196S	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	401					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATGCCCCATCAGGCAGGAGCC	0.632												
POU3F1	5453	broad.mit.edu	37	1	38511579	38511579	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:38511579C>T	uc001ccp.1	-	1	872	c.837G>A	c.(835-837)GCG>GCA	p.A279A		NM_002699	NP_002690	Q03052	PO3F1_HUMAN	POU domain, class 3, transcription factor 1	279	POU-specific.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCGTGCCCAGCGCCAGCCCCA	0.632												
NT5C1A	84618	broad.mit.edu	37	1	40137681	40137681	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:40137681C>T	uc001cdq.1	-	1	30	c.30G>A	c.(28-30)CAG>CAA	p.Q10Q		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	10				Missing (in Ref. 2; AAK30000).	purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGCGGGGCTCCTGGGGCTCCC	0.721												
TRIT1	54802	broad.mit.edu	37	1	40309784	40309784	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:40309784C>T	uc010oiz.1	-	10	1237	c.1223G>A	c.(1222-1224)CGC>CAC	p.R408H	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.R104H|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.R162H|TRIT1_uc001ceh.3_Missense_Mutation_p.R162H|TRIT1_uc009vvv.2_Missense_Mutation_p.R241H|TRIT1_uc001cei.3_Missense_Mutation_p.R162H|TRIT1_uc001ceq.2_Missense_Mutation_p.R104H|TRIT1_uc001cek.2_Missense_Mutation_p.R104H|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.R326H|TRIT1_uc001cen.2_Missense_Mutation_p.R162H|TRIT1_uc001ceo.2_Missense_Mutation_p.R162H|TRIT1_uc001cep.2_Missense_Mutation_p.R162H	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	408	Matrin-type.				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGCCCATTCGCGATCCCCAAT	0.448												
TIE1	7075	broad.mit.edu	37	1	43777469	43777469	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:43777469G>A	uc001ciu.2	+	10	1540	c.1461G>A	c.(1459-1461)CAG>CAA	p.Q487Q	TIE1_uc010okd.1_Silent_p.Q487Q|TIE1_uc010oke.1_Silent_p.Q442Q|TIE1_uc009vwq.2_Silent_p.Q443Q|TIE1_uc010okf.1_Silent_p.Q132Q|TIE1_uc010okg.1_Silent_p.Q132Q	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	487	Extracellular (Potential).|Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCGGCCCCAGGACAGTACCA	0.607												
RNF220	55182	broad.mit.edu	37	1	44877961	44877961	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:44877961C>T	uc001clv.1	+	2	552	c.192C>T	c.(190-192)AAC>AAT	p.N64N	RNF220_uc001clw.1_Silent_p.N64N	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	64					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CTTTCACCAACGGTTCCTATA	0.547												
RNF220	55182	broad.mit.edu	37	1	45111136	45111136	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:45111136C>T	uc001clv.1	+	12	1781	c.1421C>T	c.(1420-1422)ACC>ATC	p.T474I	RNF220_uc001clw.1_Missense_Mutation_p.T474I|RNF220_uc010oky.1_Missense_Mutation_p.T261I|RNF220_uc010okz.1_Missense_Mutation_p.T216I|RNF220_uc001clx.1_Missense_Mutation_p.T190I|RNF220_uc001cly.1_Missense_Mutation_p.T154I|RNF220_uc001clz.1_Missense_Mutation_p.T153I|RNF220_uc001cma.1_Missense_Mutation_p.T153I|TMEM53_uc001cmb.1_Missense_Mutation_p.V62I	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	474					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						ATGCAGAAGACCTGCAAGAAC	0.592												
TOE1	114034	broad.mit.edu	37	1	45808309	45808309	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:45808309G>A	uc009vxq.2	+	6	1329	c.746G>A	c.(745-747)CGG>CAG	p.R249Q	MUTYH_uc001cnf.2_5'Flank|MUTYH_uc009vxo.2_5'Flank|MUTYH_uc001cng.2_5'Flank|MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.R169Q|TOE1_uc010oln.1_Missense_Mutation_p.R255Q|TOE1_uc001cnr.3_RNA	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	249						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)					TATGCCTTCCGGAAATGGTGA	0.378												
LRRC41	10489	broad.mit.edu	37	1	46745205	46745205	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:46745205T>C	uc001cpn.2	-	8	2146	c.2102A>G	c.(2101-2103)AAC>AGC	p.N701S	LRRC41_uc010omb.1_Missense_Mutation_p.N701S	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	701	LRR 6.									ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					CAGTGTGGAGTTGCCCTTCAT	0.557												
TAL1	6886	broad.mit.edu	37	1	47691535	47691535	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:47691535G>A	uc001cqx.2	-	2	603	c.26C>T	c.(25-27)GCG>GTG	p.A9V	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Missense_Mutation_p.A9V|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	9					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			lung(1)	1						ACTGCGAGCCGCCTCGCTCGG	0.716			T	TRD@|SIL	lymphoblastic leukemia/biphasic							
ZFYVE9	9372	broad.mit.edu	37	1	52803538	52803538	+	Silent	SNP	G	G	A	rs146867741		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:52803538G>A	uc001cto.2	+	16	3937	c.3765G>A	c.(3763-3765)GCG>GCA	p.A1255A	ZFYVE9_uc001ctp.2_Silent_p.A1196A	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	1255					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						GTGGGAAGGCGGACGCGGAGG	0.527												
PRPF38A	84950	broad.mit.edu	37	1	52881019	52881019	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:52881019G>A	uc001ctv.3	+	9	1060	c.857G>A	c.(856-858)CGT>CAT	p.R286H	PRPF38A_uc001ctw.3_Missense_Mutation_p.V97I	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	286	Arg-rich.				mRNA processing|RNA splicing	spliceosomal complex					0						GGTCATCACCGTAGTCACAGA	0.423												
ACOT11	26027	broad.mit.edu	37	1	55065021	55065021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:55065021C>T	uc001cxm.1	+	8	899	c.817C>T	c.(817-819)CGA>TGA	p.R273*	ACOT11_uc001cxj.1_Nonsense_Mutation_p.R151*|ACOT11_uc001cxl.1_Nonsense_Mutation_p.R273*	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	273	Coenzyme A binding (By similarity).|Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						GTTCCACTTCCGAGGCCCGTC	0.612												
BSND	7809	broad.mit.edu	37	1	55472881	55472881	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:55472881G>A	uc001cye.2	+	3	727	c.484G>A	c.(484-486)GTG>ATG	p.V162M		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	barttin	162	Cytoplasmic (Potential).					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				ovary(1)|skin(1)	2						GGAGGCTGCCGTGGTCATCCA	0.642												
C8B	732	broad.mit.edu	37	1	57406539	57406539	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:57406539C>A	uc001cyp.2	-	9	1448	c.1381G>T	c.(1381-1383)GCC>TCC	p.A461S	C8B_uc010oon.1_Missense_Mutation_p.A399S|C8B_uc010ooo.1_Missense_Mutation_p.A409S	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	461	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						TTGATGATGGCTGGGTTGTAC	0.547												
INADL	10207	broad.mit.edu	37	1	62257034	62257034	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:62257034T>C	uc001dab.2	+	9	1197	c.1083T>C	c.(1081-1083)TTT>TTC	p.F361F	INADL_uc009waf.1_Silent_p.F361F|INADL_uc001daa.2_Silent_p.F361F|INADL_uc001dad.3_Silent_p.F58F	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	361					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						GTTCTCTTTTTGAAACTTATA	0.333												
INADL	10207	broad.mit.edu	37	1	62594546	62594546	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:62594546C>T	uc001dab.2	+	41	5314	c.5200C>T	c.(5200-5202)CCT>TCT	p.P1734S	INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.P518S	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1734	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TAACGGGCAACCTTTGGATGG	0.443												
JAK1	3716	broad.mit.edu	37	1	65301079	65301079	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:65301079C>A	uc001dbu.1	-	24	3618	c.3369G>T	c.(3367-3369)GAG>GAT	p.E1123D	JAK1_uc009wam.1_Missense_Mutation_p.E1111D|JAK1_uc009wal.1_Missense_Mutation_p.E300D	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	1123	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CCATAGATACCTCATCTGGAC	0.468			Mis		ALL							
IL23R	149233	broad.mit.edu	37	1	67666539	67666539	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:67666539T>C	uc001ddo.2	+	5	696	c.611T>C	c.(610-612)ATG>ACG	p.M204T	IL23R_uc009waz.2_Missense_Mutation_p.M1T|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Missense_Mutation_p.M161T|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Intron|IL23R_uc010opn.1_Missense_Mutation_p.M49T|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Missense_Mutation_p.M63T|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Missense_Mutation_p.M63T|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Missense_Mutation_p.M1T|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_Missense_Mutation_p.M1T|IL23R_uc010opv.1_Missense_Mutation_p.M63T|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_Missense_Mutation_p.M1T|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Missense_Mutation_p.M63T|IL23R_uc010oqc.1_Intron|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Intron	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	204	Extracellular (Potential).|Fibronectin type-III 1.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						GCACTAGGCATGGAAGAGTCA	0.388												
LRRC7	57554	broad.mit.edu	37	1	70509673	70509673	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:70509673A>G	uc001dep.2	+	20	3922	c.3892A>G	c.(3892-3894)ATG>GTG	p.M1298V	LRRC7_uc009wbg.2_Missense_Mutation_p.M582V|LRRC7_uc001deq.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1298						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TAACCTTGGCATGCTGCCCTA	0.393												
ELTD1	64123	broad.mit.edu	37	1	79403534	79403534	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:79403534A>C	uc001diq.3	-	6	874	c.718T>G	c.(718-720)TTC>GTC	p.F240V		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	240	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTCTTTTGGAAGCTCTGGGAT	0.348												
PKN2	5586	broad.mit.edu	37	1	89206691	89206691	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:89206691G>A	uc001dmn.2	+	2	411	c.69G>A	c.(67-69)CCG>CCA	p.P23P	PKN2_uc001dmm.1_Silent_p.P23P|PKN2_uc010osp.1_Silent_p.P23P|PKN2_uc010osq.1_Intron|PKN2_uc009wcv.2_Silent_p.P23P	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	23					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GAAGTCTTCCGTTTTCTGAGA	0.378												
FNBP1L	54874	broad.mit.edu	37	1	94016562	94016562	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:94016562G>T	uc001dpw.2	+	14	1536	c.1536G>T	c.(1534-1536)GAG>GAT	p.E512D	FNBP1L_uc001dpv.2_Missense_Mutation_p.E512D|FNBP1L_uc010otk.1_Missense_Mutation_p.E390D|FNBP1L_uc010otl.1_Missense_Mutation_p.E122D	NM_001024948	NP_001020119	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like isoform 1	570	Interaction with DNM2 and WASL.|Interaction with DNM1.|SH3.|Interaction with DAAM1, DIAPH1 and DIAPH2.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TTATAGAGGAGGACAAAGGTG	0.403												
LPPR4	9890	broad.mit.edu	37	1	99771804	99771804	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:99771804C>T	uc001dse.2	+	7	1636	c.1530C>T	c.(1528-1530)CCC>CCT	p.P510P	LPPR4_uc010oue.1_Silent_p.P452P	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	510							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCGCTGTCCCCGGATGTAACA	0.552												
COL11A1	1301	broad.mit.edu	37	1	103573701	103573701	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:103573701G>A	uc001dul.2	-	1	352	c.34C>T	c.(34-36)CGG>TGG	p.R12W	COL11A1_uc001dum.2_Missense_Mutation_p.R12W|COL11A1_uc001dun.2_Missense_Mutation_p.R12W|COL11A1_uc009weh.2_Missense_Mutation_p.R12W	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	12					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGAGCCACCGTTTCGTTTTC	0.532												
NTNG1	22854	broad.mit.edu	37	1	107867123	107867123	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:107867123C>T	uc001dvh.3	+	3	1184	c.466C>T	c.(466-468)CGT>TGT	p.R156C	NTNG1_uc001dvf.3_Missense_Mutation_p.R156C|NTNG1_uc010out.1_Missense_Mutation_p.R156C|NTNG1_uc001dvc.3_Missense_Mutation_p.R156C|NTNG1_uc001dvd.1_Missense_Mutation_p.R156C	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	156	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TGAATCTGGGCGTCCAGACCA	0.448												
GPR61	83873	broad.mit.edu	37	1	110086062	110086062	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:110086062C>T	uc001dxy.2	+	2	1101	c.418C>T	c.(418-420)CGC>TGC	p.R140C		NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	140	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)		CAATGTGGAGCGCTACTATTA	0.612												
RBM15	64783	broad.mit.edu	37	1	110883440	110883440	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:110883440G>A	uc001dzl.1	+	1	1496	c.1413G>A	c.(1411-1413)CTG>CTA	p.L471L	RBM15_uc001dzm.1_Silent_p.L471L|uc001dzj.2_5'Flank	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	471	RRM 3.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TTGCTGCCCTGGCACGAGAAT	0.498			T	MKL1	acute megakaryocytic leukemia							
WARS2	10352	broad.mit.edu	37	1	119575715	119575715	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:119575715C>T	uc001ehn.2	-	6	930	c.902G>A	c.(901-903)CGC>CAC	p.R301H	WARS2_uc010oxf.1_Missense_Mutation_p.R207H|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.R244H|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	301					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAGCTTGTAGCGAGCAGTGTT	0.577												
SF3B4	10262	broad.mit.edu	37	1	149898777	149898777	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:149898777T>C	uc001etj.1	-	3	248	c.197A>G	c.(196-198)GAT>GGT	p.D66G	SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Missense_Mutation_p.D66G|SF3B4_uc009wll.1_Missense_Mutation_p.D66G	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	66	RRM 1.					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ATAGTCAGCATCTTCCTCACT	0.418												
CGN	57530	broad.mit.edu	37	1	151495931	151495931	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:151495931T>C	uc009wmw.2	+	6	1306	c.1162T>C	c.(1162-1164)TCC>CCC	p.S388P		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	382	Interacts with ZO-2.|Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTAGAGCCATCCCAAGTTGG	0.537												
TCHH	7062	broad.mit.edu	37	1	152081372	152081372	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:152081372G>A	uc001ezp.2	-	2	4321	c.4321C>T	c.(4321-4323)CGC>TGC	p.R1441C	TCHH_uc009wne.1_Missense_Mutation_p.R1441C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1441	23 X 26 AA approximate tandem repeats.				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)			CGTTCCTGGCGGCGCACCTGC	0.577											OREG0031687	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)
SPRR3	6707	broad.mit.edu	37	1	152975993	152975993	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:152975993C>T	uc001fax.3	+	3	647	c.497C>T	c.(496-498)ACC>ATC	p.T166I	SPRR3_uc001faz.3_Missense_Mutation_p.T166I|SPRR3_uc001fay.2_Missense_Mutation_p.T158I	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	166					keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			skin(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCAGAAGACCAAGCAGAAG	0.507												
NPR1	4881	broad.mit.edu	37	1	153657486	153657486	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:153657486C>T	uc001fcs.3	+	8	1952	c.1531C>T	c.(1531-1533)CGC>TGC	p.R511C	NPR1_uc010pdz.1_Missense_Mutation_p.R257C|NPR1_uc010pea.1_Missense_Mutation_p.R15C	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	511	Cytoplasmic (Potential).				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	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)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GTGGCGGGTGCGCTGGGAGGA	0.642												
ASH1L	55870	broad.mit.edu	37	1	155448115	155448115	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:155448115G>A	uc009wqq.2	-	3	5026	c.4546C>T	c.(4546-4548)CGC>TGC	p.R1516C	ASH1L_uc001fkt.2_Missense_Mutation_p.R1516C|ASH1L_uc009wqr.1_Missense_Mutation_p.R1516C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1516					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AATCTATAGCGCTTCAAAGAT	0.473												
UBQLN4	56893	broad.mit.edu	37	1	156020124	156020124	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:156020124A>G	uc001fna.2	-	4	723	c.699T>C	c.(697-699)CCT>CCC	p.P233P	UBQLN4_uc010pgx.1_Silent_p.P213P	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	ataxin-1 ubiquitin-like interacting protein	233						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			pancreas(1)|skin(1)	2	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGCTGATCTCAGGGTTCCGCT	0.562												
NTRK1	4914	broad.mit.edu	37	1	156844801	156844801	+	Splice_Site	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:156844801G>A	uc001fqh.1	+	11	1410	c.1354_splice	c.e11+1	p.R452_splice	NTRK1_uc001fqf.1_Splice_Site_p.R416_splice|NTRK1_uc009wsi.1_Splice_Site_p.R151_splice|NTRK1_uc001fqi.1_Splice_Site_p.R446_splice|NTRK1_uc009wsk.1_Splice_Site_p.R446_splice	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1						activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGGATCAACCGTGAGTCGGGG	0.567			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)		
ARHGEF11	9826	broad.mit.edu	37	1	156931470	156931470	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:156931470G>A	uc001fqo.2	-	13	2158	c.1118C>T	c.(1117-1119)GCG>GTG	p.A373V	ARHGEF11_uc001fqn.2_Missense_Mutation_p.A413V	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	373	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCCTTACCGCATTTTTCTC	0.413												
FCRL5	83416	broad.mit.edu	37	1	157488559	157488559	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:157488559A>G	uc001fqu.2	-	14	2832	c.2674T>C	c.(2674-2676)TCG>CCG	p.S892P	FCRL5_uc009wsm.2_Missense_Mutation_p.S892P	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	892	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGGGAGTCCGAGTCTGAAGGG	0.483												
FCRL1	115350	broad.mit.edu	37	1	157767978	157767978	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:157767978C>A	uc001frg.2	-	8	1200	c.1087G>T	c.(1087-1089)GGG>TGG	p.G363W	FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.G363W|FCRL1_uc001fri.2_Missense_Mutation_p.G324W|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	363	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTAGCTGCCCTGGGGTAGGT	0.502												
OR6Y1	391112	broad.mit.edu	37	1	158517426	158517426	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:158517426C>T	uc010pil.1	-	1	470	c.470G>A	c.(469-471)GGA>GAA	p.G157E		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AGTCATGAGTCCACAGAACCA	0.468												
OR6K2	81448	broad.mit.edu	37	1	158669761	158669761	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:158669761G>A	uc001fsu.1	-	1	682	c.682C>T	c.(682-684)CGT>TGT	p.R228C		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					GAATGAATACGTAGAATTACA	0.458												
IFI16	3428	broad.mit.edu	37	1	159021772	159021772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:159021772C>T	uc001ftg.2	+	9	2091	c.1801C>T	c.(1801-1803)CGA>TGA	p.R601*	IFI16_uc010pis.1_Nonsense_Mutation_p.R601*|IFI16_uc001fth.2_Nonsense_Mutation_p.R144*|IFI16_uc010pit.1_Nonsense_Mutation_p.R200*	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	657	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					GAATGCTGACCGAAACATGGA	0.428												
KCNJ10	3766	broad.mit.edu	37	1	160012305	160012305	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:160012305C>A	uc001fuw.1	-	2	168	c.18G>T	c.(16-18)AAG>AAT	p.K6N		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	6	Cytoplasmic (By similarity).					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)			TGTAATACACCTTGGCAACTG	0.537												
ATP1A2	477	broad.mit.edu	37	1	160098840	160098840	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:160098840C>T	uc001fvc.2	+	10	1419	c.1287C>T	c.(1285-1287)GCC>GCT	p.A429A	ATP1A2_uc001fvb.2_Silent_p.A429A|ATP1A2_uc001fvd.2_Silent_p.A165A|ATP1A2_uc009wtg.1_Silent_p.A117A	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	429	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCAACCGCGCCGTCTTCAAGG	0.582												
ATP1A4	480	broad.mit.edu	37	1	160125856	160125856	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:160125856T>C	uc001fve.3	+	4	912	c.433T>C	c.(433-435)TCC>CCC	p.S145P	ATP1A4_uc001fvf.3_RNA	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	145	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)			CATCGTACTGTCCGTCGTGGT	0.502												
ADAMTS4	9507	broad.mit.edu	37	1	161161324	161161324	+	Silent	SNP	G	G	A	rs148326772		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:161161324G>A	uc001fyt.3	-	9	2546	c.2118C>T	c.(2116-2118)CCC>CCT	p.P706P		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	706	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGGCCCCCGCGGGGATAGTGA	0.577												
FCGR2C	9103	broad.mit.edu	37	1	161569498	161569498	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:161569498G>A	uc001gav.2	+	8	976	c.877G>A	c.(877-879)GGC>AGC	p.G293S		NM_201563	NP_963857			Fc fragment of IgG, low affinity IIc, receptor												0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCTGACGGCGGCTACATGAC	0.269												
OLFML2B	25903	broad.mit.edu	37	1	161967829	161967829	+	Silent	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:161967829A>C	uc001gbu.2	-	6	1684	c.1260T>G	c.(1258-1260)ACT>ACG	p.T420T	OLFML2B_uc010pkq.1_Silent_p.T421T	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	420								p.T420I(1)		skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGTGGGCCACAGTGGTGGCTG	0.607												
F5	2153	broad.mit.edu	37	1	169513570	169513570	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:169513570G>A	uc001ggg.1	-	12	2084	c.1939C>T	c.(1939-1941)CGT>TGT	p.R647C		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	647	Plastocyanin-like 4.|F5/8 type A 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GATTCTCCACGCATGGGGAAG	0.468												
C1orf129	80133	broad.mit.edu	37	1	170967433	170967433	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:170967433T>C	uc001ghg.2	+	15	1744	c.1614T>C	c.(1612-1614)TGT>TGC	p.C538C	C1orf129_uc009wvy.2_Silent_p.C345C|C1orf129_uc010plz.1_Intron	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	538							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGTAGACTGTGAACAGCTGT	0.383												
DARS2	55157	broad.mit.edu	37	1	173807354	173807354	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:173807354G>A	uc001gjh.1	+	9	1207	c.797G>A	c.(796-798)CGA>CAA	p.R266Q		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	266					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)	CGATGTTATCGAGATGAAGGT	0.338												
ZNF648	127665	broad.mit.edu	37	1	182025570	182025570	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:182025570G>A	uc001goz.2	-	2	1784	c.1576C>T	c.(1576-1578)CAC>TAC	p.H526Y		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	526	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTCCGTTGTGCATTCGTATG	0.617												
LAMC1	3915	broad.mit.edu	37	1	183090856	183090856	+	Splice_Site	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:183090856A>G	uc001gpy.3	+	12	2248	c.1991_splice	c.e12-2	p.S664_splice		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor						axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACTATACACAGGTGCTGGAT	0.473												
HMCN1	83872	broad.mit.edu	37	1	185963965	185963965	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:185963965G>A	uc001grq.1	+	24	3753	c.3524G>A	c.(3523-3525)CGT>CAT	p.R1175H		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1175	Ig-like C2-type 9.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AAGATACAGCGTGGACCTAAA	0.393												
CFH	3075	broad.mit.edu	37	1	196658606	196658606	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:196658606C>T	uc001gtj.3	+	8	1261	c.1021C>T	c.(1021-1023)CGT>TGT	p.R341C	CFH_uc001gti.3_Missense_Mutation_p.R341C|CFH_uc009wyw.2_Intron|CFH_uc009wyx.2_Missense_Mutation_p.R277C	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	341	Sushi 6.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TGAGAATATGCGTAGACCATA	0.318												
ASPM	259266	broad.mit.edu	37	1	197074096	197074096	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:197074096A>G	uc001gtu.2	-	18	4542	c.4285T>C	c.(4285-4287)TCT>CCT	p.S1429P	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1429					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CTGAACATAGATTGGATTATA	0.328												
CRB1	23418	broad.mit.edu	37	1	197390635	197390635	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:197390635C>A	uc001gtz.2	+	6	1812	c.1677C>A	c.(1675-1677)TCC>TCA	p.S559S	CRB1_uc010poz.1_Silent_p.S490S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.S447S|CRB1_uc010ppb.1_Silent_p.S559S|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.S40S|CRB1_uc001gub.1_Silent_p.S208S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	559	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TGTTCATTTCCCACAACACCA	0.458												
KIF21B	23046	broad.mit.edu	37	1	200944729	200944729	+	Silent	SNP	G	G	A	rs139284658		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:200944729G>A	uc001gvs.1	-	33	4829	c.4512C>T	c.(4510-4512)TAC>TAT	p.Y1504Y	KIF21B_uc001gvr.1_Silent_p.Y1491Y|KIF21B_uc009wzl.1_Silent_p.Y1504Y|KIF21B_uc010ppn.1_Silent_p.Y1491Y	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1504	WD 5.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CGATGCCATCGTAGTGCGGGG	0.612												
NAV1	89796	broad.mit.edu	37	1	201781709	201781709	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:201781709G>A	uc001gwu.2	+	26	5479	c.5132G>A	c.(5131-5133)CGG>CAG	p.R1711Q	NAV1_uc001gwx.2_Missense_Mutation_p.R1320Q	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1714					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						GAGCTGCTTCGGGTGCTCGAC	0.552												
IPO9	55705	broad.mit.edu	37	1	201827606	201827606	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:201827606C>T	uc001gwz.2	+	12	1303	c.1253C>T	c.(1252-1254)GCA>GTA	p.A418V		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	418					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						AATGAAAGTGCAGCAGCCCTG	0.448												
PTPN7	5778	broad.mit.edu	37	1	202119538	202119538	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:202119538C>T	uc001gxm.1	-	9	1021	c.890G>A	c.(889-891)CGG>CAG	p.R297Q	PTPN7_uc001gxl.1_Missense_Mutation_p.R336Q|PTPN7_uc001gxn.1_Missense_Mutation_p.R297Q|PTPN7_uc010ppv.1_Missense_Mutation_p.R116Q|PTPN7_uc010ppw.1_Missense_Mutation_p.R245Q|PTPN7_uc010ppx.1_Missense_Mutation_p.R371Q|PTPN7_uc010ppy.1_RNA|PTPN7_uc001gxo.1_Missense_Mutation_p.R249Q	NM_002832	NP_002823	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type	297	Substrate binding.|Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			skin(1)	1						GCAGCCCGTCCGGCCAATCCC	0.572												
KLHL12	59349	broad.mit.edu	37	1	202880242	202880242	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:202880242T>C	uc001gyo.1	-	5	857	c.657A>G	c.(655-657)CTA>CTG	p.L219L	KLHL12_uc001gym.1_5'Flank|KLHL12_uc001gyn.1_Silent_p.L69L|KLHL12_uc010pqc.1_Silent_p.L257L|KLHL12_uc009xah.1_Silent_p.L219L	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	219					Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCACATACTGTAGCAGGTTAG	0.478												
MYOG	4656	broad.mit.edu	37	1	203054644	203054644	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:203054644C>T	uc001gzd.2	-	1	734	c.446G>A	c.(445-447)CGG>CAG	p.R149Q		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	149					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(2)	2						GCCCCCGCCCCGGTAGCGGAG	0.697												
PRELP	5549	broad.mit.edu	37	1	203455842	203455842	+	Missense_Mutation	SNP	G	G	A	rs147252422		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:203455842G>A	uc001gzs.2	+	3	1182	c.982G>A	c.(982-984)GGA>AGA	p.G328R	PRELP_uc001gzt.2_Missense_Mutation_p.G328R	NM_002725	NP_002716	P51888	PRELP_HUMAN	proline arginine-rich end leucine-rich repeat	328	LRR 11.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(1)|central_nervous_system(1)|pancreas(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGAAATCAACGGAACCCAGAT	0.562												
CD34	947	broad.mit.edu	37	1	208073210	208073210	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:208073210T>C	uc001hgw.1	-	2	476	c.218A>G	c.(217-219)CAC>CGC	p.H73R	CD34_uc001hgx.1_Missense_Mutation_p.H73R|CD34_uc010psj.1_Missense_Mutation_p.T23A	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	73	Extracellular (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			ovary(1)	1						AGACACAGGGTGCAGGCTGGT	0.458												
PLXNA2	5362	broad.mit.edu	37	1	208391092	208391092	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:208391092G>A	uc001hgz.2	-	2	934	c.176C>T	c.(175-177)ACG>ATG	p.T59M	PLXNA2_uc001hha.3_Missense_Mutation_p.T113M	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	59	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACGGCCCCCGTCCCTTGGTG	0.597												
KCNH1	3756	broad.mit.edu	37	1	210948744	210948744	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:210948744G>T	uc001hib.2	-	10	2228	c.2058C>A	c.(2056-2058)GCC>GCA	p.A686A	KCNH1_uc001hic.2_Silent_p.A659A	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	686	Cytoplasmic (Potential).|cNMP.|Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AATGGGAGAAGGCCGTGTAGA	0.493												
RCOR3	55758	broad.mit.edu	37	1	211447588	211447588	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:211447588G>A	uc001hig.2	+	3	333	c.164G>A	c.(163-165)GGC>GAC	p.G55D	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.G113D|RCOR3_uc010psw.1_Missense_Mutation_p.G113D|RCOR3_uc001hif.2_Missense_Mutation_p.G113D	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	55	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GAAAAGCATGGCTACAATGTG	0.323												
RCOR3	55758	broad.mit.edu	37	1	211469067	211469067	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:211469067G>A	uc001hig.2	+	8	984	c.815G>A	c.(814-816)GGT>GAT	p.G272D	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.G330D|RCOR3_uc010psw.1_Missense_Mutation_p.G330D|RCOR3_uc001hif.2_Missense_Mutation_p.G330D	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	272	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		AAAATGGAAGGTGGAATTGAA	0.348												
PTPN14	5784	broad.mit.edu	37	1	214557534	214557534	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:214557534G>A	uc001hkk.1	-	13	1935	c.1664C>T	c.(1663-1665)ACG>ATG	p.T555M	PTPN14_uc010pty.1_Missense_Mutation_p.T456M	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	555					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CATGTGGGCCGTGCTGTAGTT	0.637												
HHIPL2	79802	broad.mit.edu	37	1	222713546	222713546	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:222713546C>T	uc001hnh.1	-	4	1314	c.1256G>A	c.(1255-1257)AGG>AAG	p.R419K		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	419					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		CCACATGTTCCTGATCCCATA	0.612												
DISP1	84976	broad.mit.edu	37	1	223177682	223177682	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:223177682C>T	uc001hnu.1	+	8	3090	c.2943C>T	c.(2941-2943)TCC>TCT	p.S981S		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	981					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		ATAGCCTCTCCGATGGCACCC	0.502												
CAPN2	824	broad.mit.edu	37	1	223947077	223947077	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:223947077T>C	uc001hob.3	+	12	1647	c.1423T>C	c.(1423-1425)TTC>CTC	p.F475L	CAPN2_uc010puy.1_Missense_Mutation_p.F397L|CAPN2_uc001hoc.2_Missense_Mutation_p.F56L	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2 isoform 1	475	Domain III.				proteolysis	cytoplasm|plasma membrane				lung(3)|breast(1)|skin(1)	5				GBM - Glioblastoma multiforme(131;0.109)		GCTCAACCGCTTCAAGCTGCC	0.542												
LBR	3930	broad.mit.edu	37	1	225592337	225592337	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:225592337T>C	uc001hoy.2	-	12	1698	c.1555A>G	c.(1555-1557)AAG>GAG	p.K519E	LBR_uc001hoz.2_Missense_Mutation_p.K519E	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	519					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)		CGTGCAAGCTTTGGATCACTG	0.279												
LIN9	286826	broad.mit.edu	37	1	226420811	226420811	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:226420811G>A	uc001hqa.2	-	14	1867	c.1557C>T	c.(1555-1557)GAC>GAT	p.D519D	LIN9_uc001hqb.2_Silent_p.D484D|LIN9_uc001hqc.2_Silent_p.D451D|LIN9_uc009xel.1_Silent_p.D484D	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	lin-9 homolog	503					cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TATTAGAAGCGTCTATTGTAC	0.313												
OBSCN	84033	broad.mit.edu	37	1	228437869	228437869	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:228437869T>C	uc009xez.1	+	14	4281	c.4237T>C	c.(4237-4239)TGC>CGC	p.C1413R	OBSCN_uc001hsn.2_Missense_Mutation_p.C1413R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1413	Ig-like 14.			C -> G (in Ref. 1; CAC85746/CAC85749).	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)				GCAGCAGGCATGCCAGGCGGA	0.647												
OBSCN	84033	broad.mit.edu	37	1	228525668	228525668	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:228525668C>T	uc009xez.1	+	67	16868	c.16824C>T	c.(16822-16824)ACC>ACT	p.T5608T	OBSCN_uc001hsn.2_Silent_p.T5608T|OBSCN_uc001hsr.1_Silent_p.T236T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5608	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ACGTGGTCACCGCTGACTACC	0.632												
OBSCN	84033	broad.mit.edu	37	1	228527685	228527685	+	Silent	SNP	C	C	T	rs142093978	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:228527685C>T	uc009xez.1	+	70	17342	c.17298C>T	c.(17296-17298)GAC>GAT	p.D5766D	OBSCN_uc001hsn.2_Silent_p.D5766D|OBSCN_uc001hsr.1_Silent_p.D395D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5766	DH.				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)				CGGACGACGACGTGGCCATGT	0.637												
URB2	9816	broad.mit.edu	37	1	229771402	229771402	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:229771402C>A	uc001hts.1	+	4	1178	c.1042C>A	c.(1042-1044)CTG>ATG	p.L348M	URB2_uc009xfd.1_Missense_Mutation_p.L348M	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	348						nucleolus				central_nervous_system(2)|ovary(1)	3						GAGCAAAGCCCTGTCCACATC	0.488												
HEATR1	55127	broad.mit.edu	37	1	236760162	236760162	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:236760162C>T	uc001hyd.1	-	6	843	c.718G>A	c.(718-720)GCC>ACC	p.A240T		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	240					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)			AATAGTTTGGCGATGATATTG	0.433												
FMN2	56776	broad.mit.edu	37	1	240371409	240371409	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:240371409G>A	uc010pyd.1	+	5	3522	c.3297G>A	c.(3295-3297)CCG>CCA	p.P1099P	FMN2_uc010pye.1_Silent_p.P1103P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1099	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCCCTCCGCCCCCTCTAC	0.731												
FMN2	56776	broad.mit.edu	37	1	240601495	240601495	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:240601495T>G	uc010pyd.1	+	16	5270	c.5045T>G	c.(5044-5046)CTT>CGT	p.L1682R	FMN2_uc010pye.1_Missense_Mutation_p.L1686R|FMN2_uc010pyg.1_Missense_Mutation_p.L278R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1682	Potential.|FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGAACAAACTTCTTCTACAA	0.408												
ZNF238	10472	broad.mit.edu	37	1	244218133	244218133	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:244218133C>T	uc001iae.2	+	1	1552	c.1030C>T	c.(1030-1032)CGT>TGT	p.R344C	ZNF238_uc001iad.3_Missense_Mutation_p.R353C|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	344	Interaction with DNMT3A.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			AGAGAGCGAGCGTGTCCAGGT	0.627												
KIF26B	55083	broad.mit.edu	37	1	245704240	245704240	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:245704240G>T	uc001ibf.1	+	5	1778	c.1338G>T	c.(1336-1338)CCG>CCT	p.P446P	KIF26B_uc010pyq.1_Silent_p.P446P|KIF26B_uc001ibg.1_Silent_p.P64P	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	446					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGACACCCCGGGGCTGGGCA	0.597												
ZMYND11	10771	broad.mit.edu	37	10	286020	286020	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:286020C>T	uc010pzt.1	+	8	1150	c.722C>T	c.(721-723)GCG>GTG	p.A241V	ZMYND11_uc001ifk.2_Missense_Mutation_p.A240V|ZMYND11_uc010pzu.1_Missense_Mutation_p.A241V|ZMYND11_uc010pzv.1_Missense_Mutation_p.A186V|ZMYND11_uc010pzw.1_Missense_Mutation_p.A156V|ZMYND11_uc001ifm.2_Missense_Mutation_p.A187V|ZMYND11_uc010pzx.1_Missense_Mutation_p.A241V|ZMYND11_uc001ifn.2_Missense_Mutation_p.A187V|ZMYND11_uc009xhg.2_Missense_Mutation_p.A224V|ZMYND11_uc009xhh.2_Missense_Mutation_p.A141V|ZMYND11_uc010pzy.1_Intron	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	201					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)		GCTGACATTGCGAGGATGCTA	0.328												
DIP2C	22982	broad.mit.edu	37	10	410451	410451	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:410451G>A	uc001ifp.2	-	20	2430	c.2340C>T	c.(2338-2340)TTC>TTT	p.F780F	DIP2C_uc009xhi.1_Silent_p.F166F|DIP2C_uc010pzz.1_Silent_p.F101F	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	780						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGGGACCCACGAACCCCAGCA	0.617												
FBXO18	84893	broad.mit.edu	37	10	5951237	5951237	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:5951237G>A	uc001iis.2	+	5	1095	c.1000G>A	c.(1000-1002)GAC>AAC	p.D334N	FBXO18_uc001iir.2_Missense_Mutation_p.D260N|FBXO18_uc009xig.2_Missense_Mutation_p.D260N|FBXO18_uc001iit.2_Missense_Mutation_p.D385N	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	334					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						ACACCTCCCCGACCTCTACGC	0.602												
PFKFB3	5209	broad.mit.edu	37	10	6274870	6274870	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:6274870T>C	uc001ije.2	+	15	1912	c.1528T>C	c.(1528-1530)TCC>CCC	p.S510P	PFKFB3_uc001ijd.2_Missense_Mutation_p.S490P|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.S524P|PFKFB3_uc001ijf.2_3'UTR|PFKFB3_uc001ijg.2_RNA|PFKFB3_uc009xij.2_RNA|PFKFB3_uc009xik.2_RNA|PFKFB3_uc009xil.2_RNA	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	510	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3						CATGAAAGGCTCCCGGAGCAG	0.537												
ITIH5	80760	broad.mit.edu	37	10	7657989	7657989	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:7657989C>T	uc001ijq.2	-	7	974	c.895G>A	c.(895-897)GTG>ATG	p.V299M	ITIH5_uc001ijp.2_Missense_Mutation_p.V85M|ITIH5_uc001ijr.1_Missense_Mutation_p.V299M	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	299	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						CTGTCAAGCACGAATACCACA	0.473												
MCM10	55388	broad.mit.edu	37	10	13213015	13213015	+	Missense_Mutation	SNP	G	G	A	rs150335901		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:13213015G>A	uc001ima.2	+	3	202	c.101G>A	c.(100-102)CGG>CAG	p.R34Q	MCM10_uc001imb.2_Missense_Mutation_p.R34Q|MCM10_uc001imc.2_Missense_Mutation_p.R34Q	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	34					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TTCTTGACGCGGGAAAATGGC	0.488												
CDNF	441549	broad.mit.edu	37	10	14862006	14862006	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:14862006T>C	uc001inb.1	-	4	575	c.537A>G	c.(535-537)GCA>GCG	p.A179A	CDNF_uc010qbv.1_3'UTR|CDNF_uc001inc.1_Silent_p.A70A	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	arginine-rich, mutated in early stage	179						extracellular region	growth factor activity				0						GGTGTGTCGCTGCATACTTGG	0.478												
ITGA8	8516	broad.mit.edu	37	10	15649742	15649742	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:15649742G>A	uc001ioc.1	-	17	1698	c.1698C>T	c.(1696-1698)CGC>CGT	p.R566R	ITGA8_uc010qcb.1_Silent_p.R551R	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	566	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						GAGGGAAGACGCGATGAGCCT	0.453												
ENKUR	219670	broad.mit.edu	37	10	25279480	25279480	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:25279480T>C	uc001isg.1	-	4	671	c.506A>G	c.(505-507)CAA>CGA	p.Q169R	ENKUR_uc001ish.1_Missense_Mutation_p.Q107R	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	169						cilium|flagellum	calmodulin binding|SH3 domain binding				0						ATAGTCTTCTTGGGCTTTCTT	0.373												
YME1L1	10730	broad.mit.edu	37	10	27400933	27400933	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:27400933A>G	uc001iti.2	-	20	2477	c.2295T>C	c.(2293-2295)CTT>CTC	p.L765L	YME1L1_uc001itj.2_Silent_p.L708L|YME1L1_uc010qdl.1_Silent_p.L675L|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	765					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						TTTTCCCCTCAAGAACAATTT	0.368												
SVIL	6840	broad.mit.edu	37	10	29769643	29769643	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:29769643G>A	uc001iut.1	-	29	5953	c.5200C>T	c.(5200-5202)CGT>TGT	p.R1734C	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.R648C|SVIL_uc001iuu.1_Missense_Mutation_p.R1308C|SVIL_uc009xlc.2_Missense_Mutation_p.R526C	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1734					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CCATAGCCACGGCCGACGTTC	0.577												
KIAA1462	57608	broad.mit.edu	37	10	30315149	30315149	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:30315149G>A	uc001iux.2	-	2	3987	c.3928C>T	c.(3928-3930)CGT>TGT	p.R1310C	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R1172C|KIAA1462_uc009xle.1_Missense_Mutation_p.R1310C	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1310										ovary(4)	4						CTCTGGGCACGGTCCCCACTG	0.617												
KIAA1462	57608	broad.mit.edu	37	10	30318056	30318056	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:30318056C>T	uc001iux.2	-	2	1080	c.1021G>A	c.(1021-1023)GTG>ATG	p.V341M	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.V203M|KIAA1462_uc009xle.1_Missense_Mutation_p.V341M	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	341	Pro-rich.									ovary(4)	4						GGCGGAGGCACGTACACTGGA	0.582												
C10orf68	79741	broad.mit.edu	37	10	33134495	33134495	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:33134495A>G	uc001iwn.3	+	15	1663	c.1190A>G	c.(1189-1191)TAT>TGT	p.Y397C	C10orf68_uc001iwl.1_Missense_Mutation_p.Y356C|C10orf68_uc001iwm.1_Missense_Mutation_p.Y401C|C10orf68_uc010qei.1_Missense_Mutation_p.Y373C|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	397										skin(2)|ovary(1)	3						TTCTTTGCCTATGCTACTGGA	0.308												
ITGB1	3688	broad.mit.edu	37	10	33209310	33209310	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:33209310G>T	uc001iws.3	-	10	1268	c.1132C>A	c.(1132-1134)CTT>ATT	p.L378I	ITGB1_uc001iwp.3_Missense_Mutation_p.L378I|ITGB1_uc001iwq.3_Missense_Mutation_p.L378I|ITGB1_uc001iwr.3_Missense_Mutation_p.L378I|ITGB1_uc001iwt.3_Missense_Mutation_p.L378I|ITGB1_uc001iwu.1_Missense_Mutation_p.L378I	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	378	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TCTGAGGAAAGGGACTAAAAG	0.353												
PARD3	56288	broad.mit.edu	37	10	34620201	34620201	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:34620201C>T	uc010qej.1	-	19	2686	c.2686G>A	c.(2686-2688)GCA>ACA	p.A896T	PARD3_uc010qek.1_Missense_Mutation_p.A893T|PARD3_uc010qel.1_Missense_Mutation_p.A896T|PARD3_uc010qem.1_Missense_Mutation_p.A880T|PARD3_uc010qen.1_Missense_Mutation_p.A850T|PARD3_uc010qeo.1_Missense_Mutation_p.A850T|PARD3_uc010qep.1_Missense_Mutation_p.A806T|PARD3_uc010qeq.1_Missense_Mutation_p.A821T|PARD3_uc001ixo.1_Missense_Mutation_p.A609T|PARD3_uc001ixp.1_Missense_Mutation_p.A727T|PARD3_uc001ixq.1_Missense_Mutation_p.A850T|PARD3_uc001ixr.1_Missense_Mutation_p.A893T|PARD3_uc001ixt.1_Missense_Mutation_p.A714T|PARD3_uc001ixu.1_Missense_Mutation_p.A838T|PARD3_uc001ixs.1_Missense_Mutation_p.A519T	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	partitioning-defective protein 3 homolog	896	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)				TCGGCAACTGCGGTCTGCAGA	0.517												
RET	5979	broad.mit.edu	37	10	43600617	43600617	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:43600617C>T	uc001jal.2	+	4	1033	c.843C>T	c.(841-843)GCC>GCT	p.A281A	RET_uc001jak.1_Silent_p.A281A|RET_uc010qez.1_Silent_p.A27A	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	281	Extracellular (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)	CCGCCAGCGCCGTGGTGGAGT	0.667		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			
RET	5979	broad.mit.edu	37	10	43615133	43615133	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:43615133C>T	uc001jal.2	+	14	2737	c.2547C>T	c.(2545-2547)GGC>GGT	p.G849G	RET_uc001jak.1_Silent_p.G849G|RET_uc010qez.1_Silent_p.G595G	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	849	Protein kinase.|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)	TCACCATGGGCGACCTCATCT	0.632		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			
TMEM72	643236	broad.mit.edu	37	10	45430248	45430248	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:45430248C>T	uc001jbn.2	+	5	691	c.494C>T	c.(493-495)ACA>ATA	p.T165I	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.T47I	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	165						integral to membrane					0						TCTGGGGACACAGAGCAAACC	0.597												
RASSF4	83937	broad.mit.edu	37	10	45478063	45478063	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:45478063T>C	uc001jbo.2	+	4	367	c.233T>C	c.(232-234)GTG>GCG	p.V78A	RASSF4_uc001jbp.2_Missense_Mutation_p.V109A|RASSF4_uc009xmn.2_Missense_Mutation_p.V8A|RASSF4_uc001jbq.2_Missense_Mutation_p.C6R|RASSF4_uc001jbt.2_Missense_Mutation_p.V8A	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	78					cell cycle|signal transduction		protein binding			large_intestine(1)	1						CGGGAGCAGGTGCACCTCCCC	0.642												
ALOX5	240	broad.mit.edu	37	10	45907734	45907734	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:45907734T>C	uc001jce.2	+	4	626	c.527T>C	c.(526-528)GTG>GCG	p.V176A	ALOX5_uc009xmt.2_Missense_Mutation_p.V176A|ALOX5_uc010qfg.1_Missense_Mutation_p.V176A	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	176	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GAAAAAGGAGTGGACTTTGTT	0.522												
RBP3	5949	broad.mit.edu	37	10	48388658	48388658	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:48388658G>A	uc001jez.2	-	1	2334	c.2220C>T	c.(2218-2220)CCC>CCT	p.P740P		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	740	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CCAGCTGGCCGGGCAGCACCT	0.627												
GDF10	2662	broad.mit.edu	37	10	48426628	48426628	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:48426628C>T	uc001jfb.2	-	3	1835	c.1379G>A	c.(1378-1380)CGG>CAG	p.R460Q	GDF10_uc009xnp.2_Missense_Mutation_p.R459Q	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	460					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						AACCACATTCCGATTCTCATC	0.582											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GDF10	2662	broad.mit.edu	37	10	48429418	48429418	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:48429418G>A	uc001jfb.2	-	2	924	c.468C>T	c.(466-468)AAC>AAT	p.N156N	GDF10_uc009xnp.2_Silent_p.N155N|GDF10_uc009xnq.1_Silent_p.N156N	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	156					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						GGCCTGAAGCGTTCTTGGCCC	0.667												
ARHGAP22	58504	broad.mit.edu	37	10	49658392	49658392	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:49658392G>A	uc001jgt.2	-	9	2077	c.1780C>T	c.(1780-1782)CGC>TGC	p.R594C	ARHGAP22_uc001jgs.2_Missense_Mutation_p.R504C|ARHGAP22_uc001jgu.2_Missense_Mutation_p.R610C|ARHGAP22_uc010qgl.1_Missense_Mutation_p.R551C|ARHGAP22_uc010qgm.1_Missense_Mutation_p.R600C|ARHGAP22_uc001jgv.2_Missense_Mutation_p.R292C|ARHGAP22_uc001jgr.2_Missense_Mutation_p.R311C	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 2	594	Potential.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			ovary(1)	1						TCGGAGCGGCGCGCGTGTTCC	0.682												
C10orf71	118461	broad.mit.edu	37	10	50532147	50532147	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:50532147C>A	uc010qgp.1	+	3	1896	c.1557C>A	c.(1555-1557)CTC>CTA	p.L519L		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	519											0						CCTCACCTCTCTTGAAAGTGC	0.507												
OGDHL	55753	broad.mit.edu	37	10	50953529	50953529	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:50953529C>T	uc001jie.2	-	12	1632	c.1490G>A	c.(1489-1491)CGG>CAG	p.R497Q	OGDHL_uc009xog.2_Missense_Mutation_p.R524Q|OGDHL_uc010qgt.1_Missense_Mutation_p.R440Q|OGDHL_uc010qgu.1_Missense_Mutation_p.R288Q|OGDHL_uc009xoh.2_Missense_Mutation_p.R288Q	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	497					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GTGGCCACGCCGGCGGTAACA	0.572												
ANK3	288	broad.mit.edu	37	10	61831926	61831926	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:61831926G>A	uc001jky.2	-	37	8905	c.8713C>T	c.(8713-8715)CGC>TGC	p.R2905C	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2905					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AACAATTTGCGTTCTCTCTCA	0.358												
ANK3	288	broad.mit.edu	37	10	61833923	61833923	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:61833923C>T	uc001jky.2	-	37	6908	c.6716G>A	c.(6715-6717)CGT>CAT	p.R2239H	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2239					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTCTTTAACACGCATGCCTTT	0.413												
RHOBTB1	9886	broad.mit.edu	37	10	62648135	62648135	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:62648135C>T	uc001jli.2	-	7	1729	c.1291G>A	c.(1291-1293)GTG>ATG	p.V431M	RHOBTB1_uc001jlh.2_Missense_Mutation_p.V431M|RHOBTB1_uc001jlj.2_Missense_Mutation_p.V431M|RHOBTB1_uc001jlk.2_Missense_Mutation_p.V431M|RHOBTB1_uc009xpe.1_Missense_Mutation_p.V369M|RHOBTB1_uc001jll.2_Missense_Mutation_p.V181M	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	431					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			upper_aerodigestive_tract(1)	1	Prostate(12;0.0112)					GCCAGGCCCACCAAATCCTTT	0.502												
EGR2	1959	broad.mit.edu	37	10	64573473	64573473	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:64573473C>T	uc010qim.1	-	3	1079	c.925G>A	c.(925-927)GCC>ACC	p.A309T	EGR2_uc010qin.1_Missense_Mutation_p.A259T|EGR2_uc001jmi.2_Missense_Mutation_p.A309T|EGR2_uc010qio.1_Missense_Mutation_p.A322T|EGR2_uc009xph.2_Missense_Mutation_p.A309T	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	309	Poly-Ala.				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGTTATAGGCGGCGGCGGCG	0.701												
JMJD1C	221037	broad.mit.edu	37	10	64949189	64949189	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:64949189C>T	uc001jmn.2	-	18	6609	c.6309G>A	c.(6307-6309)CGG>CGA	p.R2103R	JMJD1C_uc001jml.2_Silent_p.R1866R|JMJD1C_uc001jmm.2_Silent_p.R1815R|JMJD1C_uc010qiq.1_Silent_p.R1921R|JMJD1C_uc009xpi.2_Silent_p.R1921R|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Silent_p.R10R	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2103					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			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAGGCATAGTCCGTCCACTTT	0.313												
SIRT1	23411	broad.mit.edu	37	10	69669161	69669161	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:69669161G>A	uc001jnd.2	+	7	1372	c.1319G>A	c.(1318-1320)GGG>GAG	p.G440E	SIRT1_uc010qis.1_Missense_Mutation_p.G145E|SIRT1_uc009xpp.2_Missense_Mutation_p.G248E|SIRT1_uc001jne.2_Missense_Mutation_p.G137E	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	440	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0						ATTGTTATTGGGTCTTCCCTC	0.373												
TYSND1	219743	broad.mit.edu	37	10	71905285	71905285	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:71905285C>T	uc001jqr.2	-	1	1212	c.1058G>A	c.(1057-1059)GGC>GAC	p.G353D	TYSND1_uc001jqq.2_Intron|TYSND1_uc001jqs.2_Missense_Mutation_p.G353D|TYSND1_uc001jqt.2_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	353	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1						CCATACGGTGCCGCACTCCAC	0.721												
KIAA1274	27143	broad.mit.edu	37	10	72300969	72300969	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:72300969G>A	uc001jrd.3	+	16	2301	c.2020G>A	c.(2020-2022)GTG>ATG	p.V674M	KIAA1274_uc001jre.3_Translation_Start_Site	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	674										ovary(2)|central_nervous_system(1)	3						TGCGATGGTGGTGGCTGTCCT	0.627												
KIAA1274	27143	broad.mit.edu	37	10	72324139	72324139	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:72324139C>T	uc001jrd.3	+	19	2563	c.2282C>T	c.(2281-2283)GCG>GTG	p.A761V	KIAA1274_uc001jre.3_Missense_Mutation_p.A52V	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	761										ovary(2)|central_nervous_system(1)	3						GCGAAAGAGGCGCAAGAAATG	0.617												
PRF1	5551	broad.mit.edu	37	10	72358408	72358408	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:72358408G>A	uc009xqg.2	-	3	1230	c.1069C>T	c.(1069-1071)CGG>TGG	p.R357W	PRF1_uc001jrf.3_Missense_Mutation_p.R357W	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	357	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						AGTGCCTCCCGCCGCGGGTCC	0.701			M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis			
ADAMTS14	140766	broad.mit.edu	37	10	72520166	72520166	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:72520166G>A	uc001jrh.2	+	22	3229	c.3229G>A	c.(3229-3231)GAT>AAT	p.D1077N	ADAMTS14_uc001jrg.2_Missense_Mutation_p.D1080N	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1077	PLAC.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GGAAGTGCTCGATCGCTACTG	0.512												
CHST3	9469	broad.mit.edu	37	10	73767333	73767333	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:73767333G>A	uc001jsn.2	+	3	984	c.544G>A	c.(544-546)GCG>ACG	p.A182T		NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	chondroitin 6-sulfotransferase 3	182	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity				0						CGCCAACGCCGCGGGCTCGGC	0.652												
CCDC109A	90550	broad.mit.edu	37	10	74645550	74645550	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:74645550G>A	uc001jtc.2	+	8	1047	c.1026G>A	c.(1024-1026)CTG>CTA	p.L342L	CCDC109A_uc009xqr.2_Silent_p.L321L|CCDC109A_uc001jtd.2_Silent_p.L293L	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	coiled-coil domain containing 109A	342	Mitochondrial matrix (Potential).				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding				0	Prostate(51;0.0198)					AAGTACATCTGCCTCTCCGAC	0.398												
KIAA0913	23053	broad.mit.edu	37	10	75545818	75545818	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:75545818G>T	uc009xrl.2	+	1	214	c.182G>T	c.(181-183)GGT>GTT	p.G61V	KIAA0913_uc009xrk.1_3'UTR|KIAA0913_uc001jve.2_Missense_Mutation_p.G61V|KIAA0913_uc001jvf.2_Missense_Mutation_p.G61V|uc009xrm.1_5'Flank	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	61	Poly-Gly.						zinc ion binding			breast(1)	1	Prostate(51;0.0112)					GGTGGCGGAGGTGGCAGTGGC	0.677												
VCL	7414	broad.mit.edu	37	10	75832550	75832550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:75832550C>T	uc001jwd.2	+	5	656	c.562C>T	c.(562-564)CGA>TGA	p.R188*	VCL_uc009xrr.2_5'UTR|VCL_uc010qky.1_Nonsense_Mutation_p.R95*|VCL_uc001jwe.2_Nonsense_Mutation_p.R188*|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	188	N-terminal globular head.|Talin-interaction (By similarity).				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)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					CCAGGAGCACCGAGTGATGTT	0.473												
VCL	7414	broad.mit.edu	37	10	75848967	75848967	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:75848967T>C	uc001jwd.2	+	9	1130	c.1036T>C	c.(1036-1038)TCA>CCA	p.S346P	VCL_uc009xrr.2_Missense_Mutation_p.S95P|VCL_uc010qky.1_Missense_Mutation_p.S253P|VCL_uc001jwe.2_Missense_Mutation_p.S346P|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	346	1.|N-terminal globular head.|3 X 112 AA tandem repeats.				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)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					ACAAGGATCCTCACCGGTGGC	0.468												
DLG5	9231	broad.mit.edu	37	10	79556237	79556237	+	Silent	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:79556237A>C	uc001jzk.2	-	28	5350	c.5280T>G	c.(5278-5280)GCT>GCG	p.A1760A	DLG5_uc001jzi.2_Silent_p.A515A|DLG5_uc001jzj.2_Silent_p.A1175A|DLG5_uc009xru.1_RNA	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1760	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACTTGCCAGGAGCCTCATTCA	0.602												
ZMIZ1	57178	broad.mit.edu	37	10	81067236	81067236	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:81067236A>G	uc001kaf.2	+	23	3315	c.2743A>G	c.(2743-2745)ATG>GTG	p.M915V	ZMIZ1_uc001kag.2_Missense_Mutation_p.M791V|ZMIZ1_uc010qlq.1_Missense_Mutation_p.M68V	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	915	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GAATGACTTCATGCACGGGCC	0.607												
NRG3	10718	broad.mit.edu	37	10	83635508	83635508	+	Missense_Mutation	SNP	G	G	A	rs150882245	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:83635508G>A	uc001kco.2	+	1	439	c.412G>A	c.(412-414)GCC>ACC	p.A138T	NRG3_uc010qlz.1_Missense_Mutation_p.A138T|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	138	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		cacgtcccccgccaccccctc	0.517												
LRIT1	26103	broad.mit.edu	37	10	85994017	85994017	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:85994017C>T	uc001kcz.1	-	3	729	c.707G>A	c.(706-708)CGT>CAT	p.R236H		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	236	LRRCT.|Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						GGCCAGGCTACGTGGGCTGGC	0.587												
RGR	5995	broad.mit.edu	37	10	86008679	86008679	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:86008679C>T	uc001kdc.1	+	3	276	c.238C>T	c.(238-240)CGC>TGC	p.R80C	RGR_uc001kdb.1_Missense_Mutation_p.A67V|RGR_uc001kdd.1_Missense_Mutation_p.R84C|RGR_uc001kde.1_Missense_Mutation_p.R80C	NM_001012720	NP_001012738	P47804	RGR_HUMAN	retinal G-protein coupled receptor isoform 2	80	Extracellular (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			ovary(1)	1						CTCCCACAGGCGCTGGCCCTA	0.637												
LDB3	11155	broad.mit.edu	37	10	88476506	88476506	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:88476506G>A	uc001kdv.2	+	9	1677	c.1654G>A	c.(1654-1656)GGT>AGT	p.G552S	LDB3_uc010qml.1_Missense_Mutation_p.G489S|LDB3_uc010qmm.1_Missense_Mutation_p.G557S|LDB3_uc001kdu.2_Missense_Mutation_p.G442S|LDB3_uc009xsz.2_Missense_Mutation_p.G181S|LDB3_uc009xta.1_5'Flank	NM_007078	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 1	552	LIM zinc-binding 1.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1						TCCACTCTGCGGTCACTGCAA	0.657												
RNLS	55328	broad.mit.edu	37	10	90342849	90342849	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:90342849C>A	uc001kfe.2	-	1	234	c.99G>T	c.(97-99)TGG>TGT	p.W33C	RNLS_uc010qms.1_Missense_Mutation_p.W33C|RNLS_uc001kfd.2_Missense_Mutation_p.W33C	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	33						extracellular region	oxidoreductase activity			ovary(1)	1						CAGCCTTGTCCCACACAGCAA	0.622											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IFIT2	3433	broad.mit.edu	37	10	91066050	91066050	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:91066050G>A	uc009xts.2	+	2	512	c.337G>A	c.(337-339)GTT>ATT	p.V113I	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	interferon-induced protein with	113					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			ovary(1)|skin(1)	2		Colorectal(252;0.0161)				ACTCTCAGACGTTCAGATTTA	0.483												
BTAF1	9044	broad.mit.edu	37	10	93768864	93768864	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:93768864G>A	uc001khr.2	+	28	4100	c.4002G>A	c.(4000-4002)CCG>CCA	p.P1334P		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1334	Helicase ATP-binding.				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)				TGGTTTGTCCGCCAACATTAA	0.408												
KIF11	3832	broad.mit.edu	37	10	94409745	94409745	+	Splice_Site	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:94409745T>C	uc001kic.2	+	20	3230	c.2922_splice	c.e20+2	p.P974_splice	KIF11_uc010qnq.1_Splice_Site	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11						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						ACAATTCCGGTAAATTTAAAG	0.363												
PLCE1	51196	broad.mit.edu	37	10	96005895	96005895	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:96005895C>T	uc001kjk.2	+	8	3247	c.2613C>T	c.(2611-2613)GAC>GAT	p.D871D	PLCE1_uc010qnx.1_Silent_p.D871D|PLCE1_uc001kjm.2_Silent_p.D563D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	871					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TCCACTACGACCAGGACACAC	0.607												
PLCE1	51196	broad.mit.edu	37	10	96076482	96076482	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:96076482T>C	uc001kjk.2	+	29	6945	c.6311T>C	c.(6310-6312)ATG>ACG	p.M2104T	PLCE1_uc010qnx.1_Missense_Mutation_p.M2088T|PLCE1_uc001kjm.2_Missense_Mutation_p.M1796T|PLCE1_uc001kjp.2_Missense_Mutation_p.M462T	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	2104	Ras-associating 1.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GAGGGATACATGGGCAGGATT	0.438												
NOC3L	64318	broad.mit.edu	37	10	96117058	96117058	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:96117058A>G	uc001kjq.1	-	4	469	c.381T>C	c.(379-381)CAT>CAC	p.H127H	NOC3L_uc009xuk.1_5'UTR	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	127						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				TAATGCGTTCATGCTTCCGTT	0.348												
HELLS	3070	broad.mit.edu	37	10	96352252	96352252	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:96352252A>G	uc001kjt.2	+	17	2057	c.1952A>G	c.(1951-1953)TAC>TGC	p.Y651C	HELLS_uc001kjs.2_Missense_Mutation_p.Y635C|HELLS_uc009xul.2_Missense_Mutation_p.Y553C|HELLS_uc009xum.2_Missense_Mutation_p.Y521C|HELLS_uc009xun.2_Missense_Mutation_p.Y527C|HELLS_uc009xuo.2_Missense_Mutation_p.Y697C|HELLS_uc001kju.2_Missense_Mutation_p.Y290C|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.Y513C|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	651	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TCCATGTCTTACTCAGAGAGA	0.353												
LCOR	84458	broad.mit.edu	37	10	98715288	98715288	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:98715288T>C	uc001kms.1	+	8	1432	c.911T>C	c.(910-912)ATG>ACG	p.M304T	LCOR_uc001kmr.2_Missense_Mutation_p.M304T|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.M304T|LCOR_uc001kmu.1_Missense_Mutation_p.M304T	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	304						nucleus	DNA binding			ovary(3)	3		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		AGAAAAAGCATGTTAGATGCT	0.468												
SLIT1	6585	broad.mit.edu	37	10	98763959	98763959	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:98763959C>A	uc001kmw.2	-	34	3983	c.3731G>T	c.(3730-3732)GGG>GTG	p.G1244V		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1244	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTGGAATTGCCCATCGTTGAT	0.557												
CPN1	1369	broad.mit.edu	37	10	101841263	101841263	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:101841263G>A	uc001kql.2	-	1	380	c.120C>T	c.(118-120)AAC>AAT	p.N40N		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	40	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CGGGGCATTCGTTTTGCACCT	0.592												
SEC31B	25956	broad.mit.edu	37	10	102255254	102255254	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:102255254G>A	uc001krc.1	-	19	2462	c.2360C>T	c.(2359-2361)GCT>GTT	p.A787V	SEC31B_uc010qpo.1_Missense_Mutation_p.A786V|SEC31B_uc001krd.1_Missense_Mutation_p.A324V|SEC31B_uc001krf.1_Missense_Mutation_p.A324V|SEC31B_uc001kre.1_Missense_Mutation_p.A324V|SEC31B_uc001krg.1_Missense_Mutation_p.A356V	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	787					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)		GCCCAAGACAGCAGAACCTTG	0.473												
LZTS2	84445	broad.mit.edu	37	10	102763509	102763509	+	Silent	SNP	C	C	T	rs78785945	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:102763509C>T	uc001ksj.2	+	3	723	c.654C>T	c.(652-654)TCC>TCT	p.S218S	LZTS2_uc010qpw.1_Silent_p.S218S|LZTS2_uc001ksk.2_Silent_p.S218S|LZTS2_uc001ksl.2_Silent_p.S218S|LZTS2_uc001ksm.2_RNA	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	218	Ser-rich.|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)		GGACGCTATCCGACTCTGGCC	0.552												
FBXW4	6468	broad.mit.edu	37	10	103371071	103371071	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:103371071C>T	uc001kto.2	-	9	1562	c.1216G>A	c.(1216-1218)GTC>ATC	p.V406I		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	406					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AAATCCAGGACGTGGAGGTTG	0.597												
SH3PXD2A	9644	broad.mit.edu	37	10	105362558	105362558	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:105362558G>A	uc001kxj.1	-	14	2473	c.2333C>T	c.(2332-2334)ACG>ATG	p.T778M	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.T613M|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.T655M|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.T613M|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.T721M	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	806					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTCGGAGGCCGTCTGCGGGGG	0.627												
COL17A1	1308	broad.mit.edu	37	10	105799276	105799276	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:105799276C>A	uc001kxr.2	-	43	2992	c.2823G>T	c.(2821-2823)GGG>GGT	p.G941G		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	941	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAGAACTGGACCCTGGAAGCC	0.602												
SORCS1	114815	broad.mit.edu	37	10	108923764	108923764	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:108923764T>C	uc001kym.2	-	1	529	c.521A>G	c.(520-522)AAC>AGC	p.N174S	SORCS1_uc001kyl.2_Missense_Mutation_p.N174S|SORCS1_uc009xxs.2_Missense_Mutation_p.N174S|SORCS1_uc001kyn.1_Missense_Mutation_p.N174S|SORCS1_uc001kyo.2_Missense_Mutation_p.N174S	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	174	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CATGGCTTGGTTGTGTGCTGA	0.592												
MXI1	4601	broad.mit.edu	37	10	111987987	111987987	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:111987987G>A	uc001kza.2	+	2	321	c.114G>A	c.(112-114)CCG>CCA	p.P38P	MXI1_uc001kyy.2_Silent_p.P105P|MXI1_uc001kyz.2_Silent_p.P2P|MXI1_uc010qrc.1_Silent_p.P38P|MXI1_uc009xxu.2_Silent_p.P35P|MXI1_uc009xxv.2_RNA	NM_005962	NP_005953	P50539	MXI1_HUMAN	MAX interactor 1 isoform a	38					cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity				0		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CGTCCATGCCGAGCCCCCGAC	0.527												
TECTB	6975	broad.mit.edu	37	10	114045827	114045827	+	Splice_Site	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:114045827A>G	uc001kzr.1	+	3	268	c.268_splice	c.e3-2	p.Y90_splice		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	tectorin beta precursor							anchored to membrane|plasma membrane|proteinaceous extracellular matrix					0		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTCTTTGTCCAGTACAAGCCA	0.463												
NRAP	4892	broad.mit.edu	37	10	115365607	115365607	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:115365607G>A	uc001laj.2	-	34	3993	c.3829C>T	c.(3829-3831)CGT>TGT	p.R1277C	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.R1242C|NRAP_uc001lal.3_Missense_Mutation_p.R1277C	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1277	Nebulin 33.					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)		CGAAGATTACGCCAGGACTCT	0.448												
NRAP	4892	broad.mit.edu	37	10	115365959	115365959	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:115365959G>A	uc001laj.2	-	33	3949	c.3785C>T	c.(3784-3786)ACG>ATG	p.T1262M	NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.T1227M|NRAP_uc001lal.3_Missense_Mutation_p.T1262M	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1262	Nebulin 33.					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)		GGCTGCATTCGTTTTTGCTCG	0.458												
NHLRC2	374354	broad.mit.edu	37	10	115661633	115661633	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:115661633G>A	uc001lax.1	+	7	1560	c.1348G>A	c.(1348-1350)GTA>ATA	p.V450I	NHLRC2_uc001lay.1_RNA	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	450					cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)		GAAGCACCTCGTAGGAGGAGA	0.473												
ABLIM1	3983	broad.mit.edu	37	10	116198969	116198969	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:116198969C>T	uc010qsg.1	-	20	2207	c.2108G>A	c.(2107-2109)CGA>CAA	p.R703Q	ABLIM1_uc010qsh.1_Missense_Mutation_p.R671Q|ABLIM1_uc010qsi.1_Missense_Mutation_p.R643Q|ABLIM1_uc010qsf.1_Missense_Mutation_p.R380Q	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	703					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AGACACTCCTCGGTCCATTCT	0.473												
HSPA12A	259217	broad.mit.edu	37	10	118441370	118441370	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:118441370C>T	uc001lct.2	-	8	959	c.854G>A	c.(853-855)CGT>CAT	p.R285H	HSPA12A_uc001lcu.2_Missense_Mutation_p.R202H	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	285							ATP binding			ovary(1)	1				all cancers(201;0.0158)		CTGCCGATTACGCCGTATGTG	0.473											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KCNK18	338567	broad.mit.edu	37	10	118960782	118960782	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:118960782G>A	uc010qsr.1	+	2	336	c.336G>A	c.(334-336)ACG>ACA	p.T112T		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	112						integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)		TCTGCTGCACGGTGTTCAGCA	0.562												
PDZD8	118987	broad.mit.edu	37	10	119043937	119043937	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:119043937G>A	uc001lde.1	-	5	2506	c.2307C>T	c.(2305-2307)ACC>ACT	p.T769T		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	769					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		TGCGTAGTGCGGTTCTAGTGA	0.408												
BAG3	9531	broad.mit.edu	37	10	121429488	121429488	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:121429488C>T	uc001lem.2	+	2	612	c.306C>T	c.(304-306)GGC>GGT	p.G102G	BAG3_uc001lel.2_Silent_p.G102G	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	102					anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TCCATGAAGGCGCTGAGAACC	0.637												
SEC23IP	11196	broad.mit.edu	37	10	121663641	121663641	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:121663641G>A	uc001leu.1	+	4	1025	c.953G>A	c.(952-954)CGC>CAC	p.R318H	SEC23IP_uc010qtc.1_Missense_Mutation_p.R107H	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	318	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GATGGAGGGCGCTACGATGTT	0.483												
FGFR2	2263	broad.mit.edu	37	10	123274774	123274774	+	Missense_Mutation	SNP	A	A	G	rs121913474		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:123274774A>G	uc010qtk.1	-	9	1791	c.1144T>C	c.(1144-1146)TGC>CGC	p.C382R	FGFR2_uc010qtg.1_Missense_Mutation_p.C270R|FGFR2_uc010qth.1_Missense_Mutation_p.C267R|FGFR2_uc010qti.1_Missense_Mutation_p.C293R|FGFR2_uc010qtj.1_Missense_Mutation_p.C383R|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.C267R|FGFR2_uc001lfl.3_Missense_Mutation_p.C383R|FGFR2_uc001lfm.2_Missense_Mutation_p.C294R|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_5'UTR	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	382	Helical; (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.C382R(2)		endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	ACCCCTATGCAGTAAATGGCT	0.512	C382R(JHUEM2_ENDOMETRIUM)	5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome			
TACC2	10579	broad.mit.edu	37	10	123970676	123970676	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:123970676A>G	uc001lfv.2	+	9	7096	c.6736A>G	c.(6736-6738)ACC>GCC	p.T2246A	TACC2_uc001lfw.2_Missense_Mutation_p.T392A|TACC2_uc009xzx.2_Missense_Mutation_p.T2201A|TACC2_uc010qtv.1_Missense_Mutation_p.T2250A|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Missense_Mutation_p.T324A|TACC2_uc001lga.2_Missense_Mutation_p.T324A|TACC2_uc009xzy.2_Missense_Mutation_p.T324A|TACC2_uc001lgb.2_Missense_Mutation_p.T281A|TACC2_uc010qtw.1_Missense_Mutation_p.T341A	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2246						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGGGAGGTAACCCCATCGGA	0.607												
DMBT1	1755	broad.mit.edu	37	10	124358347	124358347	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:124358347G>A	uc001lgk.1	+	26	3120	c.3014G>A	c.(3013-3015)CGA>CAA	p.R1005Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R995Q|DMBT1_uc001lgm.1_Missense_Mutation_p.R506Q|DMBT1_uc009xzz.1_Missense_Mutation_p.R1005Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1005	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTCAGGGCCGAGTGGAGGTC	0.567												
FAM53B	9679	broad.mit.edu	37	10	126370548	126370548	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:126370548G>T	uc001lhv.1	-	4	1057	c.534C>A	c.(532-534)TCC>TCA	p.S178S	FAM53B_uc001lhu.1_Silent_p.S178S|FAM53B_uc001lhw.2_Silent_p.S178S	NM_014661	NP_055476	Q14153	FA53B_HUMAN	hypothetical protein LOC9679	178										ovary(1)|pancreas(1)	2		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CGCAGGGTGAGGAGAGCACGT	0.657												
FAM53B	9679	broad.mit.edu	37	10	126370610	126370610	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:126370610C>T	uc001lhv.1	-	4	995	c.472G>A	c.(472-474)GGC>AGC	p.G158S	FAM53B_uc001lhu.1_Missense_Mutation_p.G158S|FAM53B_uc001lhw.2_Missense_Mutation_p.G158S	NM_014661	NP_055476	Q14153	FA53B_HUMAN	hypothetical protein LOC9679	158										ovary(1)|pancreas(1)	2		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GTGCTGAAGCCGTTGGAATAG	0.622												
PWWP2B	170394	broad.mit.edu	37	10	134219688	134219688	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:134219688A>G	uc001lll.3	+	2	1713	c.1684A>G	c.(1684-1686)ATG>GTG	p.M562V	PWWP2B_uc009ybe.2_Intron	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	562											0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GAAGAAGGGGATGTATCGGAA	0.463												
KNDC1	85442	broad.mit.edu	37	10	135015094	135015094	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:135015094C>T	uc001llz.1	+	17	3080	c.3079C>T	c.(3079-3081)CGG>TGG	p.R1027W	KNDC1_uc001lma.1_Missense_Mutation_p.R962W|KNDC1_uc001lmb.1_Missense_Mutation_p.R439W	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1027					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGCACTGTCACGGGGAAACTT	0.637												
SCGB1C1	147199	broad.mit.edu	37	11	193728	193728	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:193728G>T	uc001loa.1	+	2	92	c.72G>T	c.(70-72)GAG>GAT	p.E24D		NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1 precursor	24						extracellular region	binding			skin(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCACAGGGGAGGACAACGATG	0.577												
LSP1	4046	broad.mit.edu	37	11	1908789	1908789	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:1908789C>A	uc001lui.2	+	10	1191	c.1016C>A	c.(1015-1017)CCC>CAC	p.P339H	LSP1_uc001luj.2_Missense_Mutation_p.P467H|LSP1_uc001luk.2_Missense_Mutation_p.P277H|LSP1_uc001lul.2_Missense_Mutation_p.P277H|LSP1_uc001lum.2_Missense_Mutation_p.P277H	NM_002339	NP_002330	P33241	LSP1_HUMAN	lymphocyte-specific protein 1 isoform 1	339					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			large_intestine(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GGCCCGGCTCCCTAGGCGTCC	0.597												
PGAP2	27315	broad.mit.edu	37	11	3846332	3846332	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:3846332G>A	uc001lys.2	+	6	917	c.791G>A	c.(790-792)CGG>CAG	p.R264Q	PGAP2_uc001lyl.2_Missense_Mutation_p.R221Q|PGAP2_uc010qxw.1_Missense_Mutation_p.R321Q|PGAP2_uc010qxx.1_Silent_p.S244S|PGAP2_uc001lyp.3_Silent_p.S130S|PGAP2_uc010qxy.1_Missense_Mutation_p.R256Q|PGAP2_uc010qxz.1_Missense_Mutation_p.R260Q|PGAP2_uc001lyn.3_Silent_p.S156S|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Silent_p.S227S|PGAP2_uc010qyb.1_Silent_p.S206S|PGAP2_uc001lyt.2_Missense_Mutation_p.R47Q	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	FGF receptor activating protein 1 isoform 1	264	Helical; (Potential).				GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity				0						GTCTACTTTCGGCACAACATG	0.527											OREG0020703	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR52N4	390072	broad.mit.edu	37	11	5776934	5776934	+	Nonstop_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:5776934T>C	uc001mbu.2	+	1	1012	c.964T>C	c.(964-966)TGA>CGA	p.*322R	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTACAGCATGTGAATGAACAC	0.398												
RRP8	23378	broad.mit.edu	37	11	6622242	6622242	+	Missense_Mutation	SNP	G	G	A	rs139950161		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:6622242G>A	uc001med.2	-	4	1040	c.961C>T	c.(961-963)CGC>TGC	p.R321C	ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase,	321					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity				0						GAAGCCAAGCGGCAATCCCCA	0.547												
DCHS1	8642	broad.mit.edu	37	11	6643309	6643309	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:6643309C>T	uc001mem.1	-	21	10008	c.9598G>A	c.(9598-9600)GAC>AAC	p.D3200N	TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	3200	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGGTGGGTCGATACGGGGA	0.642												
MRVI1	10335	broad.mit.edu	37	11	10626010	10626010	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:10626010C>T	uc010rcc.1	-	13	2071	c.1685G>A	c.(1684-1686)CGC>CAC	p.R562H	MRVI1_uc001miw.2_Missense_Mutation_p.R553H|MRVI1_uc010rcb.1_Missense_Mutation_p.R554H|MRVI1_uc009ygb.1_Missense_Mutation_p.R247H|MRVI1_uc001mix.2_Missense_Mutation_p.R247H|MRVI1_uc001miz.2_Missense_Mutation_p.R471H|MRVI1_uc009ygc.1_Missense_Mutation_p.R471H|MRVI1_uc010rcd.1_Missense_Mutation_p.R356H|MRVI1_uc009ygd.1_Missense_Mutation_p.R247H|MRVI1_uc010rce.1_RNA	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	535	Potential.|Interaction with ITPR1 (By similarity).				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGTCAGGTTGCGTTCCCTTTC	0.468												
GALNTL4	374378	broad.mit.edu	37	11	11454305	11454305	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:11454305A>G	uc001mjo.2	-	3	879	c.458T>C	c.(457-459)CTG>CCG	p.L153P		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	153	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CACCTCTGGCAGGCTGTCAGG	0.562												
USP47	55031	broad.mit.edu	37	11	11954637	11954637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:11954637C>T	uc001mjq.1	+	16	2561	c.1798C>T	c.(1798-1800)CGA>TGA	p.R600*	USP47_uc001mjr.2_Nonsense_Mutation_p.R512*|USP47_uc001mjs.2_Nonsense_Mutation_p.R580*	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	600					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		AAAGAGACAACGAGAAATTGA	0.323												
USP47	55031	broad.mit.edu	37	11	11974317	11974317	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:11974317C>T	uc001mjs.2	+	25	4376	c.3613C>T	c.(3613-3615)CTT>TTT	p.L1205F	USP47_uc001mjr.2_Missense_Mutation_p.L1137F|USP47_uc009ygi.2_Missense_Mutation_p.L7F	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	1225					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)		CATGTCACAGCTTGCAGTTTT	0.428												
COPB1	1315	broad.mit.edu	37	11	14515947	14515947	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:14515947T>C	uc001mli.2	-	3	437	c.130A>G	c.(130-132)AAA>GAA	p.K44E	COPB1_uc001mlg.2_Missense_Mutation_p.K44E|COPB1_uc001mlh.2_Missense_Mutation_p.K44E|PSMA1_uc010rcp.1_RNA	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	44					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						ATGATTACTTTCTTCAAAGCT	0.299												
INSC	387755	broad.mit.edu	37	11	15262062	15262062	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:15262062C>T	uc001mly.2	+	12	1650	c.1604C>T	c.(1603-1605)GCC>GTC	p.A535V	INSC_uc001mlz.2_Missense_Mutation_p.A488V|INSC_uc001mma.2_Missense_Mutation_p.A488V|INSC_uc010rcs.1_Missense_Mutation_p.A523V|INSC_uc001mmb.2_Missense_Mutation_p.A488V|INSC_uc001mmc.2_Missense_Mutation_p.A446V	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	535					cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						GTGCTTGTGGCCTGCCTGGTG	0.562												
SPTY2D1	144108	broad.mit.edu	37	11	18636709	18636709	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:18636709G>A	uc001moy.2	-	3	1328	c.1112C>T	c.(1111-1113)CCA>CTA	p.P371L	SPTY2D1_uc010rdi.1_Missense_Mutation_p.P371L	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	371	Ser-rich.									breast(1)	1						GCTGCTGCCTGGCTGCCTGAC	0.602												
IGSF22	283284	broad.mit.edu	37	11	18729360	18729360	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:18729360G>A	uc009yht.2	-	20	3461	c.3271C>T	c.(3271-3273)CGC>TGC	p.R1091C	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(4)|large_intestine(2)|kidney(1)	7						CCTGCCACGCGCACATGGATG	0.542												
ANO5	203859	broad.mit.edu	37	11	22281077	22281077	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:22281077G>A	uc001mqi.2	+	15	1737	c.1420G>A	c.(1420-1422)GTC>ATC	p.V474I	ANO5_uc001mqj.2_Missense_Mutation_p.V473I	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	474	Helical; (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						GTCTCTTGTCGTCACCAGTAT	0.378												
LGR4	55366	broad.mit.edu	37	11	27390168	27390168	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:27390168G>A	uc001mrj.3	-	18	2587	c.2102C>T	c.(2101-2103)ACG>ATG	p.T701M	LGR4_uc001mrk.3_Missense_Mutation_p.T677M	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	701	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						TAATGATGGCGTTTCACCTGT	0.403												
QSER1	79832	broad.mit.edu	37	11	32955335	32955335	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:32955335G>A	uc001mty.2	+	4	2411	c.2144G>A	c.(2143-2145)GGC>GAC	p.G715D	QSER1_uc001mtz.1_Missense_Mutation_p.G476D|QSER1_uc001mua.2_Missense_Mutation_p.G220D	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	715	Gln-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					TTAGGGCATGGCCATCAGGCA	0.413												
HIPK3	10114	broad.mit.edu	37	11	33308762	33308762	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:33308762C>T	uc001mul.1	+	2	1072	c.802C>T	c.(802-804)CGT>TGT	p.R268C	HIPK3_uc001mum.1_Missense_Mutation_p.R268C|HIPK3_uc009yjv.1_Missense_Mutation_p.R268C	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	268	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						CTTTCAGCACCGTAACCATAC	0.388												
C11orf41	25758	broad.mit.edu	37	11	33667450	33667450	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:33667450C>T	uc001mup.3	+	16	4879	c.4755C>T	c.(4753-4755)TAC>TAT	p.Y1585Y		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1579						integral to membrane				ovary(2)	2						AAGAGGCCTACGGCTCAGCCC	0.701												
C11orf41	25758	broad.mit.edu	37	11	33689437	33689437	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:33689437A>G	uc001mup.3	+	20	5429	c.5305A>G	c.(5305-5307)ATC>GTC	p.I1769V		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1763						integral to membrane				ovary(2)	2						CCCAGGGTACATCGAGGCCTA	0.642												
ACCSL	390110	broad.mit.edu	37	11	44077743	44077743	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:44077743C>T	uc001mxw.1	+	11	1250	c.1194C>T	c.(1192-1194)GGC>GGT	p.G398G	ACCSL_uc009ykr.2_Silent_p.G217G	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	398							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						AGGATTTTGGCATCTCTGGCT	0.507												
MAPK8IP1	9479	broad.mit.edu	37	11	45924210	45924210	+	Missense_Mutation	SNP	G	G	A	rs141639373		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:45924210G>A	uc001nbr.2	+	5	1062	c.892G>A	c.(892-894)GCC>ACC	p.A298T		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	298					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(2)|breast(1)|skin(1)	4				GBM - Glioblastoma multiforme(35;0.231)		GCCCACCTCCGCCTTCCTGCC	0.662												
PHF21A	51317	broad.mit.edu	37	11	45955682	45955682	+	Missense_Mutation	SNP	C	C	T	rs140543084		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:45955682C>T	uc001ncc.3	-	18	2504	c.1880G>A	c.(1879-1881)GGC>GAC	p.G627D	PHF21A_uc001ncb.3_Missense_Mutation_p.G581D|PHF21A_uc009ykx.2_Missense_Mutation_p.G581D|PHF21A_uc001nca.1_3'UTR	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	627	Required for transcriptional repression.				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						GAGGTCGATGCCGTGGATGAG	0.597												
NUP160	23279	broad.mit.edu	37	11	47828676	47828676	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:47828676G>A	uc001ngm.2	-	19	2477	c.2392C>T	c.(2392-2394)CAC>TAC	p.H798Y	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	798					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						ACTGATAAGTGTTGGAGATTA	0.378												
OR4A16	81327	broad.mit.edu	37	11	55111357	55111357	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:55111357T>C	uc010rie.1	+	1	681	c.681T>C	c.(679-681)AGT>AGC	p.S227S		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						AAACTTACAGTCAGGAAGAGA	0.428												
OR8H1	219469	broad.mit.edu	37	11	56057709	56057709	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:56057709T>C	uc010rje.1	-	1	830	c.830A>G	c.(829-831)TAT>TGT	p.Y277C		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	277	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					CACAATAGTATAAAAAACAGA	0.353												
OR5AR1	219493	broad.mit.edu	37	11	56431837	56431837	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:56431837A>G	uc010rjm.1	+	1	676	c.676A>G	c.(676-678)ATC>GTC	p.I226V		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	226	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGTTGCAATCATCAGAATGCG	0.463												
MS4A15	219995	broad.mit.edu	37	11	60531390	60531390	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:60531390C>T	uc009ynf.1	+	2	404	c.184C>T	c.(184-186)CCC>TCC	p.P62S	MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Missense_Mutation_p.P62S	NM_001098835	NP_001092305	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member	62						integral to membrane	receptor activity			lung(1)	1						TGACTTGCGGCCCGTGGAGAC	0.582												
C11orf66	220004	broad.mit.edu	37	11	61254061	61254061	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:61254061T>C	uc001nru.1	+	9	938	c.813T>C	c.(811-813)AAT>AAC	p.N271N	C11orf66_uc009ynq.1_Silent_p.N251N	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	271										ovary(1)	1						GCCGAGGGAATGAAAGGATTC	0.572												
AHNAK	79026	broad.mit.edu	37	11	62289451	62289451	+	Silent	SNP	G	G	A	rs150249054	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:62289451G>A	uc001ntl.2	-	5	12738	c.12438C>T	c.(12436-12438)GAC>GAT	p.D4146D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4146					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				AAACGTCCACGTCGCCCTTCA	0.522												
SLC22A8	9376	broad.mit.edu	37	11	62760801	62760801	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:62760801G>A	uc001nwo.2	-	11	1673	c.1537C>T	c.(1537-1539)CGG>TGG	p.R513W	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_3'UTR|SLC22A8_uc009yom.2_Missense_Mutation_p.R390W|SLC22A8_uc010rmm.1_Missense_Mutation_p.R422W|SLC22A8_uc009yon.2_Missense_Mutation_p.R513W	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN	solute carrier family 22 member 8	513	Extracellular (Potential).				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			skin(2)|ovary(1)	3						TTCTTTGCCCGCAGGGACCTA	0.617												
PLCB3	5331	broad.mit.edu	37	11	64030156	64030156	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:64030156G>A	uc001nzb.2	+	19	2231	c.2231G>A	c.(2230-2232)GGC>GAC	p.G744D	PLCB3_uc009ypg.1_Missense_Mutation_p.G744D|PLCB3_uc009yph.1_Missense_Mutation_p.G677D|PLCB3_uc009ypi.2_Missense_Mutation_p.G744D	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	744	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						AGGAAGGTGGGCATCTACGTG	0.642												
NRXN2	9379	broad.mit.edu	37	11	64427988	64427988	+	Silent	SNP	G	G	A	rs142462404		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:64427988G>A	uc001oar.2	-	12	2644	c.2205C>T	c.(2203-2205)TAC>TAT	p.Y735Y	NRXN2_uc001oas.2_Silent_p.Y704Y|NRXN2_uc001oaq.2_Silent_p.Y402Y	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						TGGAGCCATCGTAGCTCAGGA	0.577												
TM7SF2	7108	broad.mit.edu	37	11	64883043	64883043	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:64883043A>G	uc001oct.2	+	9	1216	c.1069A>G	c.(1069-1071)ATG>GTG	p.M357V	TM7SF2_uc010rny.1_Missense_Mutation_p.M241V|TM7SF2_uc001ocu.2_Missense_Mutation_p.M330V|TM7SF2_uc001ocv.2_Missense_Mutation_p.M378V|uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	357	Helical; (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			ovary(1)	1						AGACCTCATCATGGCTCTGGC	0.597												
MRPL49	740	broad.mit.edu	37	11	64893233	64893233	+	Silent	SNP	G	G	A	rs112102999		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:64893233G>A	uc001oda.1	+	4	481	c.390G>A	c.(388-390)CCG>CCA	p.P130P	MRPL49_uc001ocz.1_RNA	NM_004927	NP_004918	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	130					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0						TTCTGAGCCCGCTGCTGGGGA	0.532												
CAPN1	823	broad.mit.edu	37	11	64977350	64977350	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:64977350G>A	uc009yqd.1	+	18	1936	c.1825G>A	c.(1825-1827)GAG>AAG	p.E609K	CAPN1_uc001odf.1_Missense_Mutation_p.E609K|CAPN1_uc001odg.1_Missense_Mutation_p.E609K|CAPN1_uc010roa.1_Missense_Mutation_p.E350K	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	609	1.|Domain IV.|EF-hand 2.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GGGCCTGGTGGAGTTCAACAT	0.587												
SLC22A20	440044	broad.mit.edu	37	11	65000814	65000814	+	Missense_Mutation	SNP	G	G	A	rs114214656	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65000814G>A	uc010roc.1	+	8	1240	c.1237G>A	c.(1237-1239)GCC>ACC	p.A413T		NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	solute carrier family 22, member 20	413	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)	1						CATGGTGATCGCCAACATGTT	0.597												
CDC42EP2	10435	broad.mit.edu	37	11	65088674	65088674	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65088674C>A	uc001odl.2	+	2	755	c.305C>A	c.(304-306)CCT>CAT	p.P102H		NM_006779	NP_006770	O14613	BORG1_HUMAN	Cdc42 effector protein 2	102					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity				0						GGCCCATCCCCTCTGCTCAAG	0.677												
TIGD3	220359	broad.mit.edu	37	11	65124297	65124297	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65124297G>A	uc001odo.3	+	2	1181	c.1018G>A	c.(1018-1020)GCC>ACC	p.A340T		NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	340	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CGTGCTGGACGCCCTGCACGT	0.652												
SLC25A45	283130	broad.mit.edu	37	11	65147336	65147336	+	Splice_Site	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65147336A>G	uc001odp.1	-	3	575	c.153_splice	c.e3+1	p.S51_splice	SLC25A45_uc009yqi.1_Splice_Site_p.S51_splice|SLC25A45_uc001odq.1_Intron|SLC25A45_uc001odr.1_Splice_Site_p.S51_splice|SLC25A45_uc001ods.1_Splice_Site_p.S9_splice|SLC25A45_uc001odt.1_Splice_Site_p.S9_splice	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b						transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						TGGGCCACTCACGGACTCATG	0.612												
SCYL1	57410	broad.mit.edu	37	11	65305557	65305557	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65305557C>T	uc001oea.1	+	16	2228	c.2151C>T	c.(2149-2151)GAC>GAT	p.D717D	SCYL1_uc009yqk.2_Silent_p.D717D|SCYL1_uc001oeb.1_Silent_p.D700D|SCYL1_uc001oec.1_Missense_Mutation_p.T705M|SCYL1_uc001oed.1_Silent_p.D574D|SCYL1_uc001oee.1_Silent_p.D361D	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	717					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						CACCTCCTGACGGTACACGGC	0.642												
LTBP3	4054	broad.mit.edu	37	11	65314941	65314941	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65314941C>T	uc001oej.2	-	14	2345	c.2076G>A	c.(2074-2076)CGG>CGA	p.R692R	LTBP3_uc001oef.2_5'Flank|LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Silent_p.R122R|LTBP3_uc010roi.1_Silent_p.R575R|LTBP3_uc001oei.2_Silent_p.R692R|LTBP3_uc010roj.1_Silent_p.R393R|LTBP3_uc010rok.1_Silent_p.R603R	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	692	EGF-like 5; calcium-binding (Potential).|Cys-rich.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						AGGCTTTGAGCCGGTAGCCGG	0.627												
EHBP1L1	254102	broad.mit.edu	37	11	65347566	65347566	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65347566G>A	uc001oeo.3	+	5	592	c.327G>A	c.(325-327)CAG>CAA	p.Q109Q	EHBP1L1_uc001oep.1_5'Flank	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	109										central_nervous_system(1)	1						CTAAGGGGCAGCGGAAGGTGC	0.652												
PCNXL3	399909	broad.mit.edu	37	11	65385650	65385650	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65385650C>T	uc001oey.2	+	6	817	c.817C>T	c.(817-819)CGC>TGC	p.R273C		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	273						integral to membrane					0						ACGGGAACAACGCAGGGGGGC	0.677												
EFEMP2	30008	broad.mit.edu	37	11	65638718	65638718	+	Missense_Mutation	SNP	C	C	T	rs2234462	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65638718C>T	uc001ofy.3	-	4	471	c.277G>A	c.(277-279)GGC>AGC	p.G93S	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.G93S	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	93					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		GGTCCCTCGCCGTGTAGGTCG	0.652												
CTSW	1521	broad.mit.edu	37	11	65650137	65650137	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65650137C>T	uc001ogc.1	+	6	638	c.596C>T	c.(595-597)GCG>GTG	p.A199V	CTSW_uc001ogb.1_Missense_Mutation_p.A199V	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	199					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		GTCTGGGACGCGTTCATAACT	0.627												
CTSW	1521	broad.mit.edu	37	11	65650895	65650895	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65650895G>T	uc001ogc.1	+	9	1062	c.1020G>T	c.(1018-1020)AAG>AAT	p.K340N	CTSW_uc001ogb.1_Missense_Mutation_p.K340N	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	340					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		GGGGAGAGAAGGTGAGTGTGA	0.597												
NPAS4	266743	broad.mit.edu	37	11	66190273	66190273	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:66190273G>A	uc001ohx.1	+	4	735	c.559G>A	c.(559-561)GTG>ATG	p.V187M	NPAS4_uc010rpc.1_Silent_p.P13P	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	187					transcription, DNA-dependent		DNA binding|signal transducer activity				0						AGGAAATCCCGTGTTCACAGC	0.637												
NPAS4	266743	broad.mit.edu	37	11	66190305	66190305	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:66190305G>A	uc001ohx.1	+	4	767	c.591G>A	c.(589-591)CCG>CCA	p.P197P	NPAS4_uc010rpc.1_Missense_Mutation_p.R24Q	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	197					transcription, DNA-dependent		DNA binding|signal transducer activity				0						CTCTGGAGCCGAGACCCCGCC	0.612												
RHOD	29984	broad.mit.edu	37	11	66834229	66834229	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:66834229C>A	uc001ojv.2	+	3	326	c.241C>A	c.(241-243)CTG>ATG	p.L81M		NM_014578	NP_055393	O00212	RHOD_HUMAN	ras homolog D precursor	81					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0						CTATGACCGCCTGCGGCCCCT	0.597												
CORO1B	57175	broad.mit.edu	37	11	67208687	67208687	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:67208687C>T	uc001olj.1	-	5	701	c.665G>A	c.(664-666)CGG>CAG	p.R222Q	CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.R222Q|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.R222Q|CORO1B_uc010rps.1_Missense_Mutation_p.R222Q	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	222	WD 4.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			large_intestine(1)|ovary(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCGCATGGGCCGGGCCCCCTC	0.667												
PITPNM1	9600	broad.mit.edu	37	11	67265420	67265420	+	Missense_Mutation	SNP	C	C	T	rs143299011		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:67265420C>T	uc001olx.2	-	11	1939	c.1750G>A	c.(1750-1752)GGG>AGG	p.G584R	PITPNM1_uc001olw.2_5'UTR|PITPNM1_uc001oly.2_Missense_Mutation_p.G584R|PITPNM1_uc001olz.2_Missense_Mutation_p.G584R	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	584					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						CCCCGACTCCCGGTGCCCGCG	0.642												
DHCR7	1717	broad.mit.edu	37	11	71146464	71146464	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:71146464T>C	uc001oqk.2	-	9	1635	c.1385A>G	c.(1384-1386)TAC>TGC	p.Y462C	DHCR7_uc001oql.2_Missense_Mutation_p.Y462C	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	462					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)	TGCGGCGGTGTAGCGCTCCCA	0.642									Smith-Lemli-Opitz_syndrome			
FCHSD2	9873	broad.mit.edu	37	11	72695167	72695167	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:72695167C>T	uc009ytl.2	-	8	892	c.671G>A	c.(670-672)CGC>CAC	p.R224H	FCHSD2_uc010rrg.1_Missense_Mutation_p.R64H|FCHSD2_uc001oth.3_Missense_Mutation_p.R168H|FCHSD2_uc001oti.2_Missense_Mutation_p.R183H	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	224							protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TTGATAGTAGCGATCCTGATG	0.368												
MOGAT2	80168	broad.mit.edu	37	11	75439929	75439929	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:75439929C>T	uc010rru.1	+	5	745	c.745C>T	c.(745-747)CGG>TGG	p.R249W	MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.1_Missense_Mutation_p.R167W	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	249					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)					TATCCAGAATCGGTTGCAGAA	0.537												
ODZ4	26011	broad.mit.edu	37	11	78516393	78516393	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:78516393G>A	uc001ozl.3	-	15	2586	c.2123C>T	c.(2122-2124)CCG>CTG	p.P708L		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	708	Extracellular (Potential).|EGF-like 5.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CCCGGTGTCCGGGAGGAAGGT	0.592												
HEPHL1	341208	broad.mit.edu	37	11	93808353	93808353	+	Silent	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:93808353A>C	uc001pep.2	+	9	1675	c.1518A>C	c.(1516-1518)CCA>CCC	p.P506P	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	506	Plastocyanin-like 3.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTGTGAAACCAGGGGCGCATG	0.473												
PIWIL4	143689	broad.mit.edu	37	11	94330984	94330984	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:94330984G>A	uc001pfa.2	+	11	1494	c.1283G>A	c.(1282-1284)CGC>CAC	p.R428H	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	428					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACCAATGCTCGCTTTGAACTA	0.378												
CNTN5	53942	broad.mit.edu	37	11	100061980	100061980	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:100061980T>C	uc001pga.2	+	14	2042	c.1703T>C	c.(1702-1704)GTA>GCA	p.V568A	CNTN5_uc009ywv.1_Missense_Mutation_p.V568A|CNTN5_uc001pfz.2_Missense_Mutation_p.V568A|CNTN5_uc001pgb.2_Missense_Mutation_p.V494A|CNTN5_uc010ruk.1_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	568					cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCGCTATCTGTAAAAGGTAAG	0.378												
MMP3	4314	broad.mit.edu	37	11	102709964	102709964	+	Missense_Mutation	SNP	G	G	A	rs147533686	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:102709964G>A	uc001phj.1	-	7	1011	c.946C>T	c.(946-948)CGC>TGC	p.R316C		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	316	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R316C(1)		lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AGGGATTTGCGCCAAAAGTGC	0.403												
EXPH5	23086	broad.mit.edu	37	11	108412488	108412488	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:108412488A>G	uc001pkk.2	-	2	282	c.171T>C	c.(169-171)GGT>GGC	p.G57G	EXPH5_uc010rwa.1_5'UTR	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	57					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CAAACCATTCACCAGTCACTC	0.328												
SIK2	23235	broad.mit.edu	37	11	111594537	111594537	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:111594537A>C	uc001plt.2	+	15	2583	c.2465A>C	c.(2464-2466)CAG>CCG	p.Q822P		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	822					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						CAGCAGCAGCAGccgccaccg	0.507												
ZW10	9183	broad.mit.edu	37	11	113610032	113610032	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:113610032C>T	uc001poe.2	-	12	1693	c.1656G>A	c.(1654-1656)TTG>TTA	p.L552L	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	552					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CGAGGGTCAGCAAGTGGTGAG	0.483												
HTR3A	3359	broad.mit.edu	37	11	113857354	113857354	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:113857354G>T	uc010rxb.1	+	7	1071	c.838G>T	c.(838-840)GTC>TTC	p.V280F	HTR3A_uc010rxa.1_Missense_Mutation_p.V280F|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.V259F	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	274	Helical; Name=2; (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TGGCGAGAGGGTCTCTTTCAA	0.572												
ZBTB16	7704	broad.mit.edu	37	11	114027109	114027109	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:114027109G>A	uc001pop.2	+	3	1583	c.1319G>A	c.(1318-1320)CGG>CAG	p.R440Q	ZBTB16_uc001poo.1_Missense_Mutation_p.R440Q|ZBTB16_uc001poq.2_Missense_Mutation_p.R440Q	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	440	C2H2-type 2.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGCGGGAAGCGGTTCCTGGAT	0.547												
CADM1	23705	broad.mit.edu	37	11	115080374	115080374	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:115080374G>T	uc001ppi.3	-	8	1127	c.998C>A	c.(997-999)CCC>CAC	p.P333H	CADM1_uc001ppf.3_Intron|CADM1_uc001ppk.3_Intron|CADM1_uc001ppj.3_Intron|CADM1_uc001pph.3_Missense_Mutation_p.P85H	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	333	Extracellular (Potential).			PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		AGTTGTGGGGGGATCTGGATA	0.284												
SIDT2	51092	broad.mit.edu	37	11	117063319	117063319	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:117063319G>A	uc001pqh.1	+	21	2052	c.2011G>A	c.(2011-2013)GTG>ATG	p.V671M	SIDT2_uc010rxe.1_Missense_Mutation_p.V671M|SIDT2_uc001pqg.2_Missense_Mutation_p.V692M|SIDT2_uc001pqi.1_Missense_Mutation_p.V668M|SIDT2_uc001pqj.1_Translation_Start_Site	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2 precursor	671	Extracellular (Potential).					integral to membrane|lysosomal membrane					0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CATCCTCCACGTGCTCTACAC	0.622												
DSCAML1	57453	broad.mit.edu	37	11	117342716	117342716	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:117342716A>G	uc001prh.1	-	15	3003	c.3001T>C	c.(3001-3003)TCC>CCC	p.S1001P		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	941	Extracellular (Potential).|Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGGTGGGGGAGATGTTGCGT	0.537												
DSCAML1	57453	broad.mit.edu	37	11	117389198	117389198	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:117389198G>A	uc001prh.1	-	7	1675	c.1673C>T	c.(1672-1674)GCG>GTG	p.A558V	DSCAML1_uc001pri.1_Missense_Mutation_p.A362V	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	498	Extracellular (Potential).|Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTTTATTCGCGCCTGATATTC	0.502												
DSCAML1	57453	broad.mit.edu	37	11	117651377	117651377	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:117651377G>A	uc001prh.1	-	2	377	c.375C>T	c.(373-375)GAC>GAT	p.D125D	DSCAML1_uc001pri.1_Translation_Start_Site	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	65	Extracellular (Potential).|Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGTAGATGTCGTCCCCTGTGG	0.667												
MLL	4297	broad.mit.edu	37	11	118371787	118371787	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:118371787G>A	uc001pta.2	+	25	6258	c.6235G>A	c.(6235-6237)GTA>ATA	p.V2079I	MLL_uc001ptb.2_Missense_Mutation_p.V2082I	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2079					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TCCTCCAGTCGTAGAGCCGGA	0.468			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
PHLDB1	23187	broad.mit.edu	37	11	118498952	118498952	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:118498952G>A	uc001ptr.1	+	7	1766	c.1413G>A	c.(1411-1413)CCG>CCA	p.P471P	PHLDB1_uc001pts.2_Silent_p.P471P|PHLDB1_uc001ptt.2_Silent_p.P471P|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Silent_p.P271P|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	471											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTCTCTCCCCGCTGCCCACCC	0.672												
BCL9L	283149	broad.mit.edu	37	11	118770197	118770197	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:118770197T>C	uc001pug.2	-	8	4392	c.3427A>G	c.(3427-3429)AGC>GGC	p.S1143G	BCL9L_uc009zal.2_Missense_Mutation_p.S1138G	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1143	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGCATCTGGCTGGGCTGGCTG	0.672												
HYOU1	10525	broad.mit.edu	37	11	118919830	118919830	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:118919830T>G	uc001puu.2	-	17	2085	c.1892A>C	c.(1891-1893)GAG>GCG	p.E631A	HYOU1_uc001put.2_Missense_Mutation_p.E596A|HYOU1_uc010ryu.1_Intron|HYOU1_uc010ryv.1_Missense_Mutation_p.E520A|HYOU1_uc001pux.3_Missense_Mutation_p.E631A|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.E631A	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	631						endoplasmic reticulum lumen	ATP binding|protein binding				0	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)		AGAGCCATCCTCCACTGGGGC	0.602												
C2CD2L	9854	broad.mit.edu	37	11	118982019	118982019	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:118982019T>C	uc001pvo.2	+	6	1204	c.845T>C	c.(844-846)ATC>ACC	p.I282T	DPAGT1_uc010ryz.1_5'Flank|C2CD2L_uc001pvn.2_Missense_Mutation_p.I282T	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	282						integral to membrane					0						CAGCCAGCCATCCCCAGACCT	0.562												
PVRL1	5818	broad.mit.edu	37	11	119549183	119549183	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:119549183G>A	uc001pwv.2	-	2	544	c.372C>T	c.(370-372)TGC>TGT	p.C124C	PVRL1_uc001pwu.1_Silent_p.C124C|PVRL1_uc001pww.2_Silent_p.C124C	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	124	Extracellular (Potential).|Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TAGCAAACTCGCAGATGTAGA	0.612												
SORL1	6653	broad.mit.edu	37	11	121414327	121414327	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:121414327C>A	uc001pxx.2	+	13	1836	c.1756C>A	c.(1756-1758)CTC>ATC	p.L586I		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	586	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGTGTATGGCCTCCTCACAGA	0.493												
SORL1	6653	broad.mit.edu	37	11	121448077	121448077	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:121448077G>A	uc001pxx.2	+	25	3628	c.3548G>A	c.(3547-3549)TGC>TAC	p.C1183Y	SORL1_uc010rzp.1_Missense_Mutation_p.C29Y	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1183	Extracellular (Potential).|LDL-receptor class A 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GACAACGACTGCAGGGACTGG	0.527												
BSX	390259	broad.mit.edu	37	11	122848370	122848370	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:122848370G>T	uc010rzs.1	-	3	689	c.689C>A	c.(688-690)CCG>CAG	p.P230Q		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	230											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)		GAGCACGTGCGGCCCTGAGCC	0.706												
GRAMD1B	57476	broad.mit.edu	37	11	123481017	123481017	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:123481017C>A	uc001pyx.2	+	13	1790	c.1461C>A	c.(1459-1461)ACC>ACA	p.T487T	GRAMD1B_uc001pyw.2_Silent_p.T494T|GRAMD1B_uc010rzw.1_Silent_p.T447T|GRAMD1B_uc010rzx.1_Silent_p.T447T|GRAMD1B_uc001pyy.2_Silent_p.T178T	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	487						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACACGCTCACCCGTGTGGCTC	0.542												
FAM118B	79607	broad.mit.edu	37	11	126124235	126124235	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:126124235C>T	uc001qdf.2	+	6	786	c.603C>T	c.(601-603)AGC>AGT	p.S201S	FAM118B_uc009zca.2_Silent_p.S205S|FAM118B_uc001qdg.2_Silent_p.S201S	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN	hypothetical protein LOC79607	201											0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		GTAAGCTGAGCGTGTTGCATA	0.522												
TMEM45B	120224	broad.mit.edu	37	11	129725622	129725622	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:129725622C>T	uc001qfe.1	+	4	466	c.405C>T	c.(403-405)CAC>CAT	p.H135H	TMEM45B_uc001qff.1_Silent_p.H135H	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	transmembrane protein 45B	135	Helical; (Potential).					integral to membrane					0	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		TCTACTACCACGTCCACAACC	0.557												
ADAMTS8	11095	broad.mit.edu	37	11	130278728	130278728	+	Missense_Mutation	SNP	G	G	A	rs34821407		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:130278728G>A	uc001qgg.3	-	7	2216	c.1858C>T	c.(1858-1860)CGG>TGG	p.R620W	ADAMTS8_uc001qgf.2_Missense_Mutation_p.R101W	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	620	Cys-rich.				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)		CAGCGGTCCCGGGGGGACACC	0.572												
OPCML	4978	broad.mit.edu	37	11	132307169	132307169	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:132307169G>A	uc001qgs.2	-	4	661	c.611C>T	c.(610-612)GCG>GTG	p.A204V	OPCML_uc001qgu.2_Missense_Mutation_p.A197V|OPCML_uc010sck.1_Missense_Mutation_p.A204V|OPCML_uc001qgt.2_Missense_Mutation_p.A203V|OPCML_uc010scl.1_Missense_Mutation_p.A163V	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	204	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.A204A(1)		ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ATCGTTCAACGCGCTGCATTC	0.547												
SLC6A13	6540	broad.mit.edu	37	12	332299	332299	+	Silent	SNP	G	G	A	rs146619869		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:332299G>A	uc001qic.1	-	12	1466	c.1413C>T	c.(1411-1413)TAC>TAT	p.Y471Y	SLC6A13_uc009zdj.1_Silent_p.Y461Y|SLC6A13_uc010sdl.1_Silent_p.Y379Y	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	471	Helical; Name=10; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GTCACTCACCGTAAACCCAAG	0.537												
CACNA1C	775	broad.mit.edu	37	12	2705045	2705045	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:2705045G>A	uc009zdu.1	+	20	2982	c.2669G>A	c.(2668-2670)CGC>CAC	p.R890H	CACNA1C_uc009zdv.1_Missense_Mutation_p.R887H|CACNA1C_uc001qkb.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkc.2_Missense_Mutation_p.R890H|CACNA1C_uc001qke.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkf.2_Missense_Mutation_p.R890H|CACNA1C_uc001qjz.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkd.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkg.2_Missense_Mutation_p.R890H|CACNA1C_uc009zdw.1_Missense_Mutation_p.R890H|CACNA1C_uc001qkh.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkl.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkn.2_Missense_Mutation_p.R890H|CACNA1C_uc001qko.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkp.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkr.2_Missense_Mutation_p.R890H|CACNA1C_uc001qku.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkq.2_Missense_Mutation_p.R890H|CACNA1C_uc001qks.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkt.2_Missense_Mutation_p.R890H|CACNA1C_uc001qka.1_Missense_Mutation_p.R425H|CACNA1C_uc001qki.1_Missense_Mutation_p.R626H|CACNA1C_uc001qkj.1_Missense_Mutation_p.R626H|CACNA1C_uc001qkk.1_Missense_Mutation_p.R626H|CACNA1C_uc001qkm.1_Missense_Mutation_p.R626H|CACNA1C_uc001qkw.2_Missense_Mutation_p.R179H	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	890	III.|Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TACAGGTTTCGCCTCCAGTGC	0.582												
CACNA1C	775	broad.mit.edu	37	12	2760892	2760892	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:2760892G>T	uc009zdu.1	+	34	4489	c.4176G>T	c.(4174-4176)GAG>GAT	p.E1392D	CACNA1C_uc009zdv.1_Missense_Mutation_p.E1341D|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkc.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qke.2_Missense_Mutation_p.E1333D|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1333D|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1331D|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1366D|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1333D|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1392D|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qko.2_Missense_Mutation_p.E1364D|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1361D|CACNA1C_uc001qku.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1372D|CACNA1C_uc001qks.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qki.1_Missense_Mutation_p.E1080D|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1080D|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1080D|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1069D|CACNA1C_uc010sea.1_Missense_Mutation_p.E35D	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1392	IV.|Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCCGTGGGGAGGGCATCCGGA	0.647												
C12orf5	57103	broad.mit.edu	37	12	4460458	4460458	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:4460458C>T	uc001qmp.2	+	5	375	c.296C>T	c.(295-297)GCG>GTG	p.A99V		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	99						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GAAGGCAAAGCGCTAAGTGAG	0.473												
FGF23	8074	broad.mit.edu	37	12	4479890	4479890	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:4479890G>A	uc001qmq.1	-	3	521	c.375C>T	c.(373-375)GAC>GAT	p.D125D		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23 precursor	125					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			ovary(2)|breast(1)|skin(1)	4			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			AGTGGTAGACGTCGTACCCGT	0.587												
KCNA1	3736	broad.mit.edu	37	12	5020658	5020658	+	Silent	SNP	C	C	T	rs146308797		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:5020658C>T	uc001qnh.2	+	2	1219	c.114C>T	c.(112-114)CGC>CGT	p.R38R		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	38					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)	GCTGCGAGCGCGTGGTGATCA	0.677												
ANO2	57101	broad.mit.edu	37	12	5687530	5687530	+	Splice_Site	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:5687530A>G	uc001qnm.2	-	22	2458	c.2386_splice	c.e22+1	p.G796_splice		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2							chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						TGGGGCACGTACCGATATCTT	0.547												
VWF	7450	broad.mit.edu	37	12	6091088	6091088	+	Missense_Mutation	SNP	C	C	T	rs150201871	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:6091088C>T	uc001qnn.1	-	42	7401	c.7151G>A	c.(7150-7152)CGG>CAG	p.R2384Q	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2384					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CTGGGTCTTCCGAAGGGTGGG	0.587												
LRRC23	10233	broad.mit.edu	37	12	7019089	7019089	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:7019089G>A	uc001qrt.3	+	6	1049	c.657G>A	c.(655-657)GAG>GAA	p.E219E	LRRC23_uc001qrp.2_Silent_p.E219E|LRRC23_uc001qrq.2_Silent_p.E219E|LRRC23_uc001qrr.2_Silent_p.E168E|LRRC23_uc001qrs.2_Silent_p.E168E|LRRC23_uc009zfh.2_Intron	NM_001135217	NP_001128689	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23 isoform a	219	LRR 6.									ovary(1)	1						AAGGCTTGGAGGATCTGAGCA	0.502												
GDF3	9573	broad.mit.edu	37	12	7842723	7842723	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:7842723G>A	uc001qte.2	-	2	882	c.846C>T	c.(844-846)ATC>ATT	p.I282I		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	growth differentiation factor 3 precursor	282					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						TGGGGGCAATGATCCACTTGT	0.522												
GPR19	2842	broad.mit.edu	37	12	12815320	12815320	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:12815320C>T	uc001rar.3	-	2	256	c.63G>A	c.(61-63)GTG>GTA	p.V21V	GPR19_uc001raq.2_Silent_p.V21V	NM_006143	NP_006134	Q15760	GPR19_HUMAN	G protein-coupled receptor 19	21	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		TTTGGAGGGGCACCAGAAGTG	0.443												
GUCY2C	2984	broad.mit.edu	37	12	14834327	14834327	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:14834327A>G	uc001rcd.2	-	5	833	c.696T>C	c.(694-696)TTT>TTC	p.F232F	GUCY2C_uc009zhz.2_Silent_p.F232F	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	232	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						AGATATCCTGAAACTCCTTAT	0.393												
CAPZA3	93661	broad.mit.edu	37	12	18891439	18891439	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:18891439C>T	uc001rdy.2	+	1	395	c.237C>T	c.(235-237)GGC>GGT	p.G79G	PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	capping protein alpha 3	79					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			ovary(1)|central_nervous_system(1)	2	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ATGTAATGGGCGACTACCGAT	0.418												
PDE3A	5139	broad.mit.edu	37	12	20522766	20522766	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:20522766A>G	uc001reh.1	+	1	570	c.548A>G	c.(547-549)GAT>GGT	p.D183G		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	183					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GTCGGGGAGGATCACTTACTC	0.721												
LST-3TM12	338821	broad.mit.edu	37	12	21176223	21176223	+	Splice_Site	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:21176223T>C	uc010sin.1	+	5	586	c.586_splice	c.e5+2	p.S196_splice	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Splice_Site_p.S243_splice	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12							membrane	transporter activity				0						TGGATCTGAGTAAGTACAATC	0.363												
ST8SIA1	6489	broad.mit.edu	37	12	22354738	22354738	+	Silent	SNP	C	C	G	rs148302271		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:22354738C>G	uc001rfo.3	-	5	1301	c.819G>C	c.(817-819)CTG>CTC	p.L273L	ST8SIA1_uc009zix.2_Silent_p.L130L	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	273	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						GTCCTGTGGACAGGCGCTTGG	0.512												
ERGIC2	51290	broad.mit.edu	37	12	29523049	29523049	+	Silent	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:29523049A>C	uc001riv.2	-	3	346	c.213T>G	c.(211-213)TCT>TCG	p.S71S	ERGIC2_uc001riw.2_RNA	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN	PTX1 protein	71	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				ovary(1)	1	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	ATGATTACCTAGAAAAATCCT	0.279												
BICD1	636	broad.mit.edu	37	12	32491898	32491898	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:32491898A>G	uc001rku.2	+	8	2830	c.2749A>G	c.(2749-2751)ACC>GCC	p.T917A	BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	917					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AAAAAGGTTAACCGTGGCTCC	0.507												
ALG10	84920	broad.mit.edu	37	12	34177009	34177009	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:34177009T>C	uc001rlm.2	+	2	603	c.284T>C	c.(283-285)ATG>ACG	p.M95T		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	95	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCCATTGGGATGCTCAGATTT	0.388												
PRICKLE1	144165	broad.mit.edu	37	12	42854130	42854130	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:42854130G>A	uc010skv.1	-	8	2264	c.1977C>T	c.(1975-1977)CGC>CGT	p.R659R	PRICKLE1_uc001rnl.2_Silent_p.R659R|PRICKLE1_uc010skw.1_Silent_p.R659R|PRICKLE1_uc001rnm.2_Silent_p.R659R|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	659	Arg/His-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AATTGTAGACGCGTCTCCGAG	0.507												
TMEM106C	79022	broad.mit.edu	37	12	48361046	48361046	+	Splice_Site	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:48361046T>C	uc001rqp.2	+	7	771	c.656_splice	c.e7+2	p.R219_splice	TMEM106C_uc001rqo.2_Splice_Site_p.R200_splice|TMEM106C_uc001rqr.2_Splice_Site_p.R219_splice|TMEM106C_uc001rqq.2_Splice_Site_p.R200_splice	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	transmembrane protein 106C isoform a							endoplasmic reticulum membrane|integral to membrane					0		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		CTTCATGCGGTGCGTCTCTCT	0.512												
RND1	27289	broad.mit.edu	37	12	49259519	49259519	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:49259519A>G	uc001rsn.2	-	1	135	c.32T>C	c.(31-33)GTG>GCG	p.V11A		NM_014470	NP_055285	Q92730	RND1_HUMAN	GTP-binding protein RHO6 precursor	11					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			ovary(1)	1						ACATCTGGCCACGACTGGCTG	0.572												
MLL2	8085	broad.mit.edu	37	12	49433919	49433919	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:49433919G>T	uc001rta.3	-	31	7634	c.7634C>A	c.(7633-7635)CCT>CAT	p.P2545H		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2545	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTTTAGGGAAGGCTCCCCTAC	0.632			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
KCNH3	23416	broad.mit.edu	37	12	49935503	49935503	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:49935503G>A	uc001ruh.1	+	3	661	c.401G>A	c.(400-402)AGC>AAC	p.S134N	KCNH3_uc010smj.1_Missense_Mutation_p.S74N	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	134	PAC.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						AAGGACATCAGCGAAACCAAG	0.592												
FAM186B	84070	broad.mit.edu	37	12	49994341	49994341	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:49994341G>A	uc001ruo.2	-	4	1255	c.1082C>T	c.(1081-1083)CCG>CTG	p.P361L	FAM186B_uc010smk.1_Missense_Mutation_p.P271L	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	361						protein complex				ovary(1)	1						CTCCTTCATCGGTTCCTGTTG	0.562												
FMNL3	91010	broad.mit.edu	37	12	50052276	50052276	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:50052276G>A	uc001ruv.1	-	6	788	c.554C>T	c.(553-555)TCG>TTG	p.S185L	FMNL3_uc001ruw.1_Intron|FMNL3_uc001ruu.1_Missense_Mutation_p.S35L	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	185	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						GAAGGGGGCCGACAGGGCGCT	0.602												
KRT1	3848	broad.mit.edu	37	12	53070955	53070955	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:53070955T>C	uc001sau.1	-	6	1201	c.1142A>G	c.(1141-1143)CAG>CGG	p.Q381R	KRT1_uc001sav.1_Missense_Mutation_p.Q381R	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	381	Rod.|Coil 2.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						AGCAGTGATCTGCAGCTCTTC	0.418												
ITGB7	3695	broad.mit.edu	37	12	53585642	53585642	+	Splice_Site	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:53585642C>T	uc009zmv.2	-	14	2387	c.2316_splice	c.e14+1	p.Q772_splice	ITGB7_uc001scc.2_Splice_Site_p.Q772_splice|ITGB7_uc010snz.1_Splice_Site	NM_000889	NP_000880	P26010	ITB7_HUMAN	integrin, beta 7 precursor						cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						AGTCTCCTCACCTGCTTCCAG	0.577												
CBX5	23468	broad.mit.edu	37	12	54639915	54639915	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:54639915T>C	uc001sfh.3	-	4	727	c.409A>G	c.(409-411)ATG>GTG	p.M137V	CBX5_uc001sfk.3_Missense_Mutation_p.M137V|CBX5_uc001sfi.3_Missense_Mutation_p.M136V|CBX5_uc001sfj.3_Missense_Mutation_p.M137V	NM_001127322	NP_001120794	P45973	CBX5_HUMAN	heterochromatin protein 1-alpha	137	Chromo 2; shadow subtype.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding				0						ATTAGGAACATTAAATCACCA	0.423												
ITGA7	3679	broad.mit.edu	37	12	56088079	56088079	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:56088079C>T	uc001shh.2	-	18	2625	c.2405G>A	c.(2404-2406)CGA>CAA	p.R802Q	ITGA7_uc001shg.2_Missense_Mutation_p.R798Q|ITGA7_uc010sps.1_Missense_Mutation_p.R705Q|ITGA7_uc009znw.2_Missense_Mutation_p.R45Q|ITGA7_uc009znx.2_Missense_Mutation_p.R679Q	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	842	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						GACACGGGCTCGTGCAGAGAC	0.602												
ERBB3	2065	broad.mit.edu	37	12	56481648	56481648	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:56481648A>G	uc001sjh.2	+	6	876	c.683A>G	c.(682-684)CAT>CGT	p.H228R	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.H169R|ERBB3_uc001sji.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	228	Extracellular (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAGTGCTGCCATGATGAGTGT	0.537												
ERBB3	2065	broad.mit.edu	37	12	56489535	56489535	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:56489535G>A	uc001sjh.2	+	17	2193	c.2000G>A	c.(1999-2001)CGT>CAT	p.R667H	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.R24H|ERBB3_uc010sqc.1_Missense_Mutation_p.R608H|ERBB3_uc009zok.2_Missense_Mutation_p.R109H|ERBB3_uc001sjk.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	667	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTCTACTGGCGTGGGCGCCGG	0.433												
BAZ2A	11176	broad.mit.edu	37	12	57008967	57008967	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57008967G>T	uc001slq.1	-	3	761	c.567C>A	c.(565-567)TCC>TCA	p.S189S	BAZ2A_uc001slp.1_Silent_p.S187S|BAZ2A_uc010sqr.1_Silent_p.S189S|BAZ2A_uc009zow.1_Intron	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	189					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						AAGTCTGTGGGGAGGTGAAAA	0.483												
ATP5B	506	broad.mit.edu	37	12	57033768	57033768	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57033768A>G	uc001slr.2	-	8	1388	c.1283T>C	c.(1282-1284)CTG>CCG	p.L428P		NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	428					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						ACTCACCTGCAGGATCTTTTG	0.468												
SDR9C7	121214	broad.mit.edu	37	12	57324050	57324050	+	Missense_Mutation	SNP	C	C	T	rs142957654	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57324050C>T	uc010sqw.1	-	2	520	c.520G>A	c.(520-522)GTC>ATC	p.V174I		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C,	174						cytoplasm	binding|oxidoreductase activity			central_nervous_system(1)	1						AACTTGGAGACGCAGTAGCCA	0.547												
GPR182	11318	broad.mit.edu	37	12	57389505	57389505	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57389505G>A	uc001smk.2	+	2	606	c.512G>A	c.(511-513)CGG>CAG	p.R171Q	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	171	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						CGAGTGCGGCGGGCCATGTGT	0.637												
LRP1	4035	broad.mit.edu	37	12	57589962	57589962	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57589962G>A	uc001snd.2	+	55	9260	c.8794G>A	c.(8794-8796)GAC>AAC	p.D2932N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2932	LDL-receptor class A 20.|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)	TGACTGTGGCGACAGCTCGGA	0.607												
GLI1	2735	broad.mit.edu	37	12	57858504	57858504	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57858504G>A	uc001snx.2	+	4	320	c.242G>A	c.(241-243)CGG>CAG	p.R81Q	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)			ACCAAGAAGCGGGCACTGTCC	0.582												
GLI1	2735	broad.mit.edu	37	12	57861129	57861129	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57861129G>A	uc001snx.2	+	9	1004	c.926G>A	c.(925-927)CGG>CAG	p.R309Q	GLI1_uc009zpq.2_Missense_Mutation_p.R181Q	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	309	C2H2-type 3.				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)			GAAGGGTGCCGGAAGTCATAC	0.537												
MDM1	56890	broad.mit.edu	37	12	68709980	68709980	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:68709980C>T	uc001stz.2	-	8	1195	c.1059G>A	c.(1057-1059)ACG>ACA	p.T353T	MDM1_uc010stc.1_Silent_p.T318T|MDM1_uc009zqv.1_Silent_p.T73T	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	mouse Mdm1 nuclear protein homolog isoform 1	353						nucleus				ovary(3)|skin(2)	5			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GAGAAAAATGCGTCCCCTGAA	0.418												
CPM	1368	broad.mit.edu	37	12	69265647	69265647	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:69265647A>G	uc001sup.2	-	4	409	c.348T>C	c.(346-348)AGT>AGC	p.S116S	CPM_uc001sur.2_Silent_p.S116S|CPM_uc001suq.2_Silent_p.S116S	NM_198320	NP_938079	P14384	CBPM_HUMAN	carboxypeptidase M precursor	116					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding				0	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GTATCCGGGTACTATTGATCA	0.468												
CCT2	10576	broad.mit.edu	37	12	69981979	69981979	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:69981979C>T	uc001svb.1	+	6	477	c.383C>T	c.(382-384)GCG>GTG	p.A128V	CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.A128V|CCT2_uc010stl.1_Missense_Mutation_p.A81V	NM_006431	NP_006422	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2	128					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3	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)			ACCATCATAGCGGGTTGGAGA	0.358												
PTPRB	5787	broad.mit.edu	37	12	70963520	70963520	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:70963520T>C	uc001swb.3	-	12	2945	c.2915A>G	c.(2914-2916)TAC>TGC	p.Y972C	PTPRB_uc010sto.1_Missense_Mutation_p.Y972C|PTPRB_uc010stp.1_Missense_Mutation_p.Y882C|PTPRB_uc001swc.3_Missense_Mutation_p.Y1190C|PTPRB_uc001swa.3_Missense_Mutation_p.Y1102C|PTPRB_uc001swd.3_Missense_Mutation_p.Y1189C|PTPRB_uc009zrr.1_Missense_Mutation_p.Y1069C	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	972	Fibronectin type-III 11.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATGATCTGGTACTGCTCCCC	0.527												
PTPRR	5801	broad.mit.edu	37	12	71314119	71314119	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:71314119C>T	uc001swi.1	-	1	468	c.52G>A	c.(52-54)GCT>ACT	p.A18T		NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	18					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTACCTGCAGCGTGAAGATTA	0.537												
TBC1D15	64786	broad.mit.edu	37	12	72315179	72315179	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:72315179T>C	uc001swu.2	+	17	1874	c.1865T>C	c.(1864-1866)GTG>GCG	p.V622A	TBC1D15_uc010stt.1_Missense_Mutation_p.V591A|TBC1D15_uc001swv.2_Missense_Mutation_p.V605A|TBC1D15_uc001sww.2_Missense_Mutation_p.V354A	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	600							protein binding|Rab GTPase activator activity				0						AAAATTGATGTGGAAGATATA	0.289												
TRHDE	29953	broad.mit.edu	37	12	72666936	72666936	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:72666936G>A	uc001sxa.2	+	1	408	c.378G>A	c.(376-378)TCG>TCA	p.S126S	LOC283392_uc010stv.1_5'UTR	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	126	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						AGCCGCCGTCGGAGGAGGAGC	0.721												
E2F7	144455	broad.mit.edu	37	12	77458398	77458398	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:77458398T>C	uc001sym.3	-	2	254	c.18A>G	c.(16-18)TTA>TTG	p.L6L	E2F7_uc001syn.2_Silent_p.L6L	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	6					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						CTTTTAGTGTTAAACAATTTA	0.348												
SLC6A15	55117	broad.mit.edu	37	12	85264403	85264403	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:85264403A>G	uc001szv.2	-	9	1842	c.1349T>C	c.(1348-1350)ATG>ACG	p.M450T	SLC6A15_uc010sul.1_Missense_Mutation_p.M343T|SLC6A15_uc001szw.1_Missense_Mutation_p.M158T	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	450	Extracellular (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						AAAATGTGTCATCGCTTCTGT	0.423												
PLXNC1	10154	broad.mit.edu	37	12	94620985	94620985	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:94620985G>T	uc001tdc.2	+	9	2203	c.1954G>T	c.(1954-1956)GGG>TGG	p.G652W		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	652	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						GGAGAACAAGGGGAACAGAAC	0.483												
HAL	3034	broad.mit.edu	37	12	96389536	96389536	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:96389536C>T	uc001tem.1	-	2	450	c.153G>A	c.(151-153)GCG>GCA	p.A51A	HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Silent_p.A51A	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	51					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	CAAGGAAGTGCGCGTCATCCA	0.632												
SLC5A8	160728	broad.mit.edu	37	12	101603634	101603634	+	Translation_Start_Site	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:101603634C>T	uc001thz.3	-	1	383	c.-7G>A	c.(-9--5)CCGTG>CCATG			NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),						apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						CATGGCCGCACGGTCGCCTGA	0.711												
SYCP3	50511	broad.mit.edu	37	12	102128805	102128805	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:102128805G>A	uc001tiq.2	-	5	385	c.253C>T	c.(253-255)CTT>TTT	p.L85F	SYCP3_uc001tir.2_Missense_Mutation_p.L85F|SYCP3_uc001tis.2_Missense_Mutation_p.L85F	NM_153694	NP_710161	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	85					cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding				0						TTGGCAAGAAGAGCCTTGTTA	0.303												
STAB2	55576	broad.mit.edu	37	12	104109638	104109638	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:104109638C>T	uc001tjw.2	+	43	4769	c.4583C>T	c.(4582-4584)GCG>GTG	p.A1528V	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1528	Extracellular (Potential).|EGF-like 13.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						GACAAGAATGCGGAGTGCACA	0.502												
STAB2	55576	broad.mit.edu	37	12	104155138	104155138	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:104155138G>T	uc001tjw.2	+	66	7495	c.7309G>T	c.(7309-7311)GGG>TGG	p.G2437W	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2437	Extracellular (Potential).|FAS1 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						TGCCTCCAATGGGATCATTCA	0.542												
GLT8D2	83468	broad.mit.edu	37	12	104397048	104397048	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:104397048T>C	uc001tkh.1	-	5	555	c.149A>G	c.(148-150)GAG>GGG	p.E50G	GLT8D2_uc001tki.1_Missense_Mutation_p.E50G	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	50	Lumenal (Potential).					integral to membrane	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2						CACAGGAATCTCTTCTTCCAG	0.448												
EID3	493861	broad.mit.edu	37	12	104698567	104698567	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:104698567G>A	uc001tkw.2	+	1	1019	c.855G>A	c.(853-855)CCG>CCA	p.P285P	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0						TATTAGAGCCGATGAATGTTA	0.383												
TXNRD1	7296	broad.mit.edu	37	12	104742171	104742171	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:104742171G>A	uc010swk.1	+	17	1944	c.1922G>A	c.(1921-1923)AGC>AAC	p.S641N	TXNRD1_uc010swl.1_Missense_Mutation_p.S491N|TXNRD1_uc010swm.1_Missense_Mutation_p.S543N|TXNRD1_uc010swn.1_Missense_Mutation_p.S491N|TXNRD1_uc010swo.1_Missense_Mutation_p.S491N|TXNRD1_uc010swp.1_Missense_Mutation_p.S453N|TXNRD1_uc010swq.1_Missense_Mutation_p.S541N|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.S557N	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	641				S -> R (in Ref. 3; AAC69621).	cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0						TCTGGGGCAAGCATCCTCCAG	0.532												
NUAK1	9891	broad.mit.edu	37	12	106532331	106532331	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:106532331A>C	uc001tlj.1	-	1	1481	c.101T>G	c.(100-102)CTG>CGG	p.L34R		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	34							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CCTGGGCTCCAGGGCTGCAGT	0.721												
POLR3B	55703	broad.mit.edu	37	12	106831541	106831541	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:106831541G>A	uc001tlp.2	+	18	2161	c.1939G>A	c.(1939-1941)GAA>AAA	p.E647K	POLR3B_uc001tlq.2_Missense_Mutation_p.E589K	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	647					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TGCACTGTACGAACACACAAT	0.328												
RFX4	5992	broad.mit.edu	37	12	107126786	107126786	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:107126786C>T	uc001tlr.2	+	15	1622	c.1556C>T	c.(1555-1557)GCC>GTC	p.A519V	RFX4_uc001tls.2_Missense_Mutation_p.A528V|RFX4_uc001tlt.2_Missense_Mutation_p.A528V|RFX4_uc001tlv.2_Missense_Mutation_p.A425V	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	519					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1						GCAAAATCTGCCACATCTGTG	0.512												
SART3	9733	broad.mit.edu	37	12	108917393	108917393	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:108917393C>T	uc001tmz.1	-	19	2968	c.2733G>A	c.(2731-2733)ACG>ACA	p.T911T	SART3_uc001tmy.1_Silent_p.T437T|SART3_uc009zux.1_Silent_p.T523T|SART3_uc010swx.1_Silent_p.T875T	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	911					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						GAGACAGCTGCGTCCTTCCCT	0.567									Porokeratosis			
ACACB	32	broad.mit.edu	37	12	109577472	109577472	+	Missense_Mutation	SNP	C	C	T	rs140156252		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:109577472C>T	uc001tob.2	+	2	381	c.262C>T	c.(262-264)CGG>TGG	p.R88W	ACACB_uc001toc.2_Missense_Mutation_p.R88W	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	88					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TGCCGGTCGGCGGAGAAACTC	0.637												
ACACB	32	broad.mit.edu	37	12	109684178	109684178	+	Silent	SNP	C	C	T	rs147193472	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:109684178C>T	uc001tob.2	+	39	5615	c.5496C>T	c.(5494-5496)GGC>GGT	p.G1832G	ACACB_uc001toc.2_Silent_p.G1832G|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.G498G	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1832	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CCAACAGTGGCGCCCGTATTG	0.587												
KCTD10	83892	broad.mit.edu	37	12	109895795	109895795	+	Splice_Site	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:109895795A>G	uc001toi.1	-	4	562	c.474_splice	c.e4+1	p.K158_splice	KCTD10_uc001toh.1_Intron|KCTD10_uc009zvi.1_Splice_Site_p.K155_splice|KCTD10_uc001toj.1_Splice_Site_p.K167_splice|KCTD10_uc001tok.1_Splice_Site	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain						proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						CCTCCAACATACCTTATTTGA	0.383												
ANAPC7	51434	broad.mit.edu	37	12	110834095	110834095	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:110834095A>T	uc001tqo.2	-	2	367	c.366T>A	c.(364-366)AAT>AAA	p.N122K	ANAPC7_uc001tqp.3_Missense_Mutation_p.N122K	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	anaphase-promoting complex subunit 7 isoform a	122					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding				0						TAGATGCAGAATTTCCAGTTG	0.363												
ANAPC7	51434	broad.mit.edu	37	12	110834100	110834100	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:110834100C>T	uc001tqo.2	-	2	362	c.361G>A	c.(361-363)GGA>AGA	p.G121R	ANAPC7_uc001tqp.3_Missense_Mutation_p.G121R	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	anaphase-promoting complex subunit 7 isoform a	121					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding				0						GCAGAATTTCCAGTTGAAGGT	0.353												
CUX2	23316	broad.mit.edu	37	12	111779753	111779753	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:111779753G>A	uc001tsa.1	+	21	3708	c.3555G>A	c.(3553-3555)AAG>AAA	p.K1185K		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1185	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CACTGCGGAAGGCCTATCAGC	0.622												
CUX2	23316	broad.mit.edu	37	12	111785603	111785603	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:111785603G>A	uc001tsa.1	+	22	4088	c.3935G>A	c.(3934-3936)GGC>GAC	p.G1312D		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1312						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GAAGAGGCAGGCAGCCAGCCC	0.612												
C12orf51	283450	broad.mit.edu	37	12	112668612	112668612	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:112668612C>T	uc009zwc.2	-	33	4967	c.4949G>A	c.(4948-4950)CGT>CAT	p.R1650H	C12orf51_uc001ttr.1_5'Flank	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GATGAAGGGACGCACAGGATC	0.498												
RBM19	9904	broad.mit.edu	37	12	114282497	114282497	+	Missense_Mutation	SNP	G	G	A	rs150329912	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:114282497G>A	uc009zwi.2	-	23	2905	c.2761C>T	c.(2761-2763)CGG>TGG	p.R921W	RBM19_uc001tvn.3_Missense_Mutation_p.R921W|RBM19_uc001tvm.2_Missense_Mutation_p.R921W	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	921					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCCGTCTTCCGCCGCAGGGCC	0.652												
RBM19	9904	broad.mit.edu	37	12	114352803	114352803	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:114352803G>T	uc009zwi.2	-	21	2673	c.2529C>A	c.(2527-2529)GCC>GCA	p.A843A	RBM19_uc001tvn.3_Silent_p.A843A|RBM19_uc001tvm.2_Silent_p.A843A	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	843	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCCGGCTGTGGGCCTGGAAGG	0.607												
FBXW8	26259	broad.mit.edu	37	12	117423059	117423059	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:117423059G>A	uc001twg.1	+	6	966	c.884G>A	c.(883-885)CGT>CAT	p.R295H	FBXW8_uc001twf.1_Missense_Mutation_p.R229H|FBXW8_uc009zwp.1_RNA	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8 isoform	295							protein binding			ovary(2)|pancreas(1)	3	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CCTGTTCATCGTTTTGAGCAC	0.423												
NOS1	4842	broad.mit.edu	37	12	117660596	117660596	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:117660596T>G	uc001twm.1	-	26	4585	c.3899A>C	c.(3898-3900)GAG>GCG	p.E1300A		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1300					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTGCAGGGTCTCTTCCCTGTA	0.577												
KSR2	283455	broad.mit.edu	37	12	118105362	118105362	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:118105362C>T	uc001two.2	-	5	1056	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	363					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGAGGGAGCGCTCGGACAG	0.597												
SRRM4	84530	broad.mit.edu	37	12	119563240	119563240	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:119563240G>A	uc001txa.1	+	7	862	c.570G>A	c.(568-570)TCG>TCA	p.S190S		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	190	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						GCTGCCCCTCGCGGTCCCAGA	0.542												
SPPL3	121665	broad.mit.edu	37	12	121205319	121205319	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:121205319C>T	uc001tzd.2	-	9	1332	c.851G>A	c.(850-852)CGC>CAC	p.R284H	SPPL3_uc009zwz.2_Missense_Mutation_p.R277H|SPPL3_uc001tzc.2_Missense_Mutation_p.R114H	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	signal peptide peptidase 3	285						integral to membrane	aspartic-type endopeptidase activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTTGTCATAGCGAAGGACAAA	0.542												
OASL	8638	broad.mit.edu	37	12	121461798	121461798	+	Missense_Mutation	SNP	C	C	T	rs80137384	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:121461798C>T	uc001tzj.1	-	5	1048	c.1042G>A	c.(1042-1044)GTG>ATG	p.V348M	OASL_uc001tzk.1_3'UTR	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	348					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			skin(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTACCTTCACGTTCCAGCTG	0.478												
ANAPC5	51433	broad.mit.edu	37	12	121773377	121773377	+	Silent	SNP	G	G	A	rs151169485		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:121773377G>A	uc001uag.2	-	7	1031	c.909C>T	c.(907-909)GCC>GCT	p.A303A	ANAPC5_uc001uae.2_5'UTR|ANAPC5_uc010szv.1_5'UTR|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Silent_p.A204A|ANAPC5_uc001uai.1_5'UTR	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	303	TPR 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATTCAGAGCGGCGTATCTCA	0.483												
TMED2	10959	broad.mit.edu	37	12	124074934	124074934	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:124074934C>T	uc001ufg.2	+	3	527	c.419C>T	c.(418-420)GCG>GTG	p.A140V		NM_006815	NP_006806	Q15363	TMED2_HUMAN	coated vesicle membrane protein precursor	140	Lumenal (Potential).				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		CTAGCAGTGGCGATGACAGCT	0.408												
EP400	57634	broad.mit.edu	37	12	132546710	132546710	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:132546710C>T	uc001ujn.2	+	45	7975	c.7940C>T	c.(7939-7941)GCA>GTA	p.A2647V	EP400_uc001ujl.2_Missense_Mutation_p.A2646V|EP400_uc001ujm.2_Missense_Mutation_p.A2566V|EP400_uc001ujp.2_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2683	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCGCCACGGGCAGTCGGCTCC	0.632												
XPO4	64328	broad.mit.edu	37	13	21396422	21396422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:21396422G>A	uc001unq.3	-	8	883	c.847C>T	c.(847-849)CGA>TGA	p.R283*		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	283					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CTGATTTTTCGATGTACCTGT	0.398												
SACS	26278	broad.mit.edu	37	13	23909640	23909640	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:23909640C>A	uc001uon.2	-	10	8964	c.8375G>T	c.(8374-8376)AGG>ATG	p.R2792M	SACS_uc001uoo.2_Missense_Mutation_p.R2645M|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2792					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTGAGCTGCCTCTTTTTAGT	0.363												
C1QTNF9B	387911	broad.mit.edu	37	13	24465776	24465776	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:24465776A>G	uc010tcw.1	-	3	654	c.654T>C	c.(652-654)GAT>GAC	p.D218D	MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Silent_p.T10T|PCOTH_uc009zzx.2_Silent_p.T19T|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Silent_p.D218D	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	218	C1q.					collagen					0						TAATGGGCACATCTGAAGAAG	0.438												
C1QTNF9	338872	broad.mit.edu	37	13	24895558	24895558	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:24895558T>C	uc001upj.2	+	4	715	c.654T>C	c.(652-654)GAT>GAC	p.D218D	C1QTNF9_uc001upe.2_RNA	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	218	C1q.					collagen	hormone activity				0		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CTTCTTCAGATATGCCCATTA	0.443												
CENPJ	55835	broad.mit.edu	37	13	25466978	25466978	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:25466978G>A	uc001upt.3	-	10	3272	c.3019C>T	c.(3019-3021)CGG>TGG	p.R1007W	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_Missense_Mutation_p.R41W	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1007					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AAATCTTCCCGTAAATCTGCT	0.348												
MTIF3	219402	broad.mit.edu	37	13	28014139	28014139	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:28014139C>T	uc001urh.2	-	1	1671	c.447G>A	c.(445-447)GCG>GCA	p.A149A	MTIF3_uc001uri.2_Silent_p.A149A|MTIF3_uc001urj.2_Silent_p.A149A|MTIF3_uc001urk.2_Silent_p.A149A	NM_152912	NP_690876	Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	149					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			ovary(1)|skin(1)	2		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TTTTGGGGTTCGCCTTCTCCA	0.488												
FLT1	2321	broad.mit.edu	37	13	28964199	28964199	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:28964199G>A	uc001usb.3	-	13	1988	c.1703C>T	c.(1702-1704)ACG>ATG	p.T568M	FLT1_uc010aar.1_Missense_Mutation_p.T568M|FLT1_uc001usc.3_Missense_Mutation_p.T568M|FLT1_uc010aas.1_RNA|FLT1_uc010aat.1_Missense_Mutation_p.T51M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	568	Ig-like C2-type 6.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTCTCCTTCCGTCGGCATTTT	0.363												
MTUS2	23281	broad.mit.edu	37	13	30071435	30071435	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:30071435G>A	uc001usl.3	+	11	3728	c.3670G>A	c.(3670-3672)GAA>AAA	p.E1224K	MTUS2_uc001usm.3_Missense_Mutation_p.E193K|MTUS2_uc010aau.2_Missense_Mutation_p.E103K|MTUS2_uc010tdq.1_5'UTR	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	1214	Potential.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						CCGCCGCTTCGAAGAGGCCTT	0.622												
NBEA	26960	broad.mit.edu	37	13	36125122	36125122	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:36125122C>T	uc001uvb.2	+	43	6965	c.6759C>T	c.(6757-6759)AGC>AGT	p.S2253S	NBEA_uc010abi.2_Silent_p.S909S|NBEA_uc010tee.1_Silent_p.S46S|NBEA_uc010tef.1_Silent_p.S46S|NBEA_uc010teg.1_Silent_p.S46S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2253						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)		TTGTCTATAGCTTGCCTCGGG	0.373												
NBEA	26960	broad.mit.edu	37	13	36229862	36229862	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:36229862A>G	uc001uvb.2	+	54	8481	c.8275A>G	c.(8275-8277)ATC>GTC	p.I2759V	NBEA_uc010abi.2_Missense_Mutation_p.I1415V|NBEA_uc010tef.1_Missense_Mutation_p.I552V|NBEA_uc001uvd.2_Missense_Mutation_p.I337V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2759	WD 2.					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)		GCGGCACCATATCATAGGAGA	0.443												
DCLK1	9201	broad.mit.edu	37	13	36700232	36700232	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:36700232G>A	uc001uvf.2	-	2	276	c.43C>T	c.(43-45)CGG>TGG	p.R15W		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	15					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)		GCCTTATCCCGCTCGTCGAAG	0.597												
FAM48A	55578	broad.mit.edu	37	13	37606025	37606025	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:37606025T>C	uc001uwg.2	-	11	963	c.715A>G	c.(715-717)AAG>GAG	p.K239E	FAM48A_uc010abt.2_Missense_Mutation_p.K240E|FAM48A_uc001uwh.2_Missense_Mutation_p.K240E|FAM48A_uc001uwi.2_Missense_Mutation_p.K239E|FAM48A_uc001uwj.2_Missense_Mutation_p.K240E|FAM48A_uc001uwk.2_Missense_Mutation_p.K239E|FAM48A_uc010tes.1_Missense_Mutation_p.K227E|FAM48A_uc001uwl.1_Missense_Mutation_p.K239E	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	239					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		GAATACCTCTTGAAACACCTG	0.353												
ENOX1	55068	broad.mit.edu	37	13	43900656	43900656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:43900656G>A	uc001uza.3	-	10	1342	c.1042C>T	c.(1042-1044)CAG>TAG	p.Q348*	ENOX1_uc001uzb.3_Nonsense_Mutation_p.Q348*|ENOX1_uc001uzc.3_Nonsense_Mutation_p.Q348*|ENOX1_uc001uyz.3_Intron|ENOX1_uc010tfm.1_Nonsense_Mutation_p.Q161*	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	348					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			pancreas(1)|skin(1)	2		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCCACAATCTGCTCAACTTTG	0.423												
CAB39L	81617	broad.mit.edu	37	13	49918346	49918346	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:49918346A>G	uc001vcw.2	-	6	1091	c.593T>C	c.(592-594)GTA>GCA	p.V198A	CAB39L_uc001vcx.2_Missense_Mutation_p.V198A|CAB39L_uc010adf.2_Missense_Mutation_p.V195A	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	198					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding				0		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		GAAGTCTGCTACCAACACTTT	0.318												
NEK3	4752	broad.mit.edu	37	13	52726773	52726773	+	Missense_Mutation	SNP	G	G	A	rs138876819	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:52726773G>A	uc001vgi.2	-	5	599	c.364C>T	c.(364-366)CGT>TGT	p.R122C	NEK3_uc001vgg.2_Missense_Mutation_p.R116C|NEK3_uc001vgh.2_Missense_Mutation_p.R143C|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Missense_Mutation_p.R122C	NM_152720	NP_689933	P51956	NEK3_HUMAN	NIMA-related kinase 3 isoform a	122	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TGTAGCACACGTTTCTTGTGA	0.353												
THSD1	55901	broad.mit.edu	37	13	52952397	52952397	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:52952397C>T	uc001vgo.2	-	5	2253	c.1708G>A	c.(1708-1710)GCT>ACT	p.A570T	THSD1_uc001vgp.2_Missense_Mutation_p.A517T|THSD1_uc010tgz.1_Missense_Mutation_p.A191T|THSD1_uc010aea.2_Missense_Mutation_p.A31T	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	570	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TCTAAGGGAGCGCTGGGGGCC	0.542												
OLFM4	10562	broad.mit.edu	37	13	53617325	53617325	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:53617325T>C	uc001vhl.2	+	4	656	c.656T>C	c.(655-657)CTG>CCG	p.L219P	OLFM4_uc001vhk.1_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	219	Potential.				cell adhesion	extracellular space				skin(1)	1		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATCGTGGCTCTGAAGACCAAG	0.443												
PCDH17	27253	broad.mit.edu	37	13	58208476	58208476	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:58208476G>A	uc001vhq.1	+	1	2688	c.1796G>A	c.(1795-1797)CGC>CAC	p.R599H	PCDH17_uc010aec.1_Missense_Mutation_p.R599H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	599	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGGTGCCGCGCAACGCTGGC	0.647												
FBXL3	26224	broad.mit.edu	37	13	77592810	77592810	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:77592810C>T	uc001vkd.2	-	3	767	c.396G>A	c.(394-396)TCG>TCA	p.S132S		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	132	LRR 1.				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity				0		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCACAAGTTGCGATAGTATAT	0.333												
MYCBP2	23077	broad.mit.edu	37	13	77625209	77625209	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:77625209T>C	uc001vkf.2	-	83	13821	c.13730A>G	c.(13729-13731)CAT>CGT	p.H4577R	MYCBP2_uc010aev.2_Missense_Mutation_p.H3981R|MYCBP2_uc001vke.2_Missense_Mutation_p.H1194R	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4577	B box-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTACAAAAATGTGTTGTTCC	0.353												
MYCBP2	23077	broad.mit.edu	37	13	77632536	77632536	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:77632536G>A	uc001vkf.2	-	79	13123	c.13032C>T	c.(13030-13032)TAC>TAT	p.Y4344Y	MYCBP2_uc010aev.2_Silent_p.Y3748Y|MYCBP2_uc001vke.2_Silent_p.Y961Y	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTATCTTAGCGTATTCCTGTT	0.388												
SLITRK1	114798	broad.mit.edu	37	13	84455408	84455408	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:84455408C>T	uc001vlk.2	-	1	1121	c.235G>A	c.(235-237)GCT>ACT	p.A79T		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	79	LRR 1.|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)		TAAAAGTTAGCGAACTCATTA	0.478												
SLITRK5	26050	broad.mit.edu	37	13	88330378	88330378	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:88330378G>A	uc001vln.2	+	2	2954	c.2735G>A	c.(2734-2736)CGG>CAG	p.R912Q	SLITRK5_uc010tic.1_Missense_Mutation_p.R671Q	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	912	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AGCAGGCTACGGGAACCGGTG	0.557												
TMTC4	84899	broad.mit.edu	37	13	101287360	101287360	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:101287360C>T	uc001vou.2	-	10	1395	c.1235G>A	c.(1234-1236)CGT>CAT	p.R412H	TMTC4_uc001vot.2_Missense_Mutation_p.R431H|TMTC4_uc010tja.1_Missense_Mutation_p.R301H|TMTC4_uc001vov.1_Missense_Mutation_p.R157H|TMTC4_uc001vow.1_Missense_Mutation_p.R195H	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	412						integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTAGAGGACACGCTCTGCGAC	0.527												
MYO16	23026	broad.mit.edu	37	13	109793696	109793696	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:109793696G>A	uc001vqt.1	+	32	5196	c.5070G>A	c.(5068-5070)GCG>GCA	p.A1690A	MYO16_uc010agk.1_Silent_p.A1712A	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1690					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GGAAATCCGCGGCGGGAAGAA	0.622												
COL4A1	1282	broad.mit.edu	37	13	110804806	110804806	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:110804806G>A	uc001vqw.3	-	51	4925	c.4803C>T	c.(4801-4803)CCC>CCT	p.P1601P	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1601	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCAGGAGCCGGGGGACGCCA	0.602												
PCID2	55795	broad.mit.edu	37	13	113850525	113850525	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:113850525C>T	uc010tju.1	-	5	359	c.278G>A	c.(277-279)CGA>CAA	p.R93Q	PCID2_uc010tjv.1_Missense_Mutation_p.R93Q|PCID2_uc010tjw.1_Missense_Mutation_p.R93Q|PCID2_uc001vte.2_5'UTR|PCID2_uc001vtd.2_5'UTR|PCID2_uc001vtf.2_5'UTR	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	93					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CTGGAATGCTCGCAAGAATGA	0.323												
CUL4A	8451	broad.mit.edu	37	13	113900295	113900295	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:113900295G>A	uc010tjy.1	+	16	1567	c.1556G>A	c.(1555-1557)GGC>GAC	p.G519D	CUL4A_uc010tjx.1_Missense_Mutation_p.G419D|CUL4A_uc010agu.2_Missense_Mutation_p.G380D|CUL4A_uc010tjz.1_Missense_Mutation_p.G198D	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	519					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(2)|skin(1)	3	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AGTGACTCAGGCCCTATAGAC	0.398												
GRTP1	79774	broad.mit.edu	37	13	113978839	113978839	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:113978839G>A	uc001vtn.2	-	8	1072	c.975C>T	c.(973-975)CGC>CGT	p.R325R		NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	325						intracellular	Rab GTPase activator activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGCAGCTCTCGCGGAGCTTGG	0.542												
FLJ10357	55701	broad.mit.edu	37	14	21557002	21557002	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:21557002C>T	uc001vzp.2	+	23	4561	c.4532C>T	c.(4531-4533)GCC>GTC	p.A1511V	FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.A749V	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	1511					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		CATGCTCGAGCCCTGAGTGAC	0.517												
ACIN1	22985	broad.mit.edu	37	14	23531715	23531715	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:23531715T>C	uc001wit.3	-	15	3403	c.3075A>G	c.(3073-3075)TTA>TTG	p.L1025L	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Silent_p.L267L|ACIN1_uc001wiq.3_Silent_p.L267L|ACIN1_uc001wir.3_Silent_p.L298L|ACIN1_uc001wis.3_Silent_p.L706L|ACIN1_uc010akg.2_Silent_p.L1012L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1025					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTAGCTGGCCTAAAGTGAAAG	0.493												
ACIN1	22985	broad.mit.edu	37	14	23548926	23548926	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:23548926T>C	uc001wit.3	-	6	2120	c.1792A>G	c.(1792-1794)AGT>GGT	p.S598G	ACIN1_uc001wis.3_Missense_Mutation_p.S280G|ACIN1_uc010akg.2_Missense_Mutation_p.S598G|ACIN1_uc010tnj.1_Missense_Mutation_p.S558G	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	598	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAACCTGAACTGTCAGGAGAG	0.532												
SLC22A17	51310	broad.mit.edu	37	14	23818484	23818484	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:23818484T>C	uc001wjl.2	-	3	579	c.523A>G	c.(523-525)ATG>GTG	p.M175V	SLC22A17_uc010akk.2_5'UTR|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Missense_Mutation_p.M175V|SLC22A17_uc010akl.1_Missense_Mutation_p.M175V	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a	175					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)		CACTTACGCATCAGGTAGACA	0.612												
MYH6	4624	broad.mit.edu	37	14	23858084	23858084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:23858084C>A	uc001wjv.2	-	29	4226	c.4159G>T	c.(4159-4161)GAG>TAG	p.E1387*	uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1387	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTTCGAGCTCCTCAGTCCGC	0.617												
LRRC16B	90668	broad.mit.edu	37	14	24529859	24529859	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:24529859G>A	uc001wlj.2	+	25	2241	c.2084G>A	c.(2083-2085)CGA>CAA	p.R695Q	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	695										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CTGTGTGGACGAGTGCAGGAG	0.607												
CPNE6	9362	broad.mit.edu	37	14	24546502	24546502	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:24546502G>A	uc001wll.2	+	15	1538	c.1439G>A	c.(1438-1440)CGG>CAG	p.R480Q	CPNE6_uc010tnv.1_Missense_Mutation_p.R535Q|CPNE6_uc001wlm.2_Missense_Mutation_p.R305Q|CPNE6_uc001wln.2_Missense_Mutation_p.R148Q	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	480	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		TCTGACATGCGGCTGCTGGAT	0.627												
TM9SF1	10548	broad.mit.edu	37	14	24659680	24659680	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:24659680A>G	uc001wnb.1	-	5	1681	c.1333T>C	c.(1333-1335)TGT>CGT	p.C445R	IPO4_uc001wmu.2_5'Flank|IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc001wmz.1_5'UTR|TM9SF1_uc010toa.1_Missense_Mutation_p.C358R|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.C680R|TM9SF1_uc001wnc.2_Missense_Mutation_p.C445R	NM_006405	NP_006396	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1 isoform a	445					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0183)		TTGGTGCGACAGGGTGCATCA	0.562												
HECTD1	25831	broad.mit.edu	37	14	31614149	31614149	+	Splice_Site	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:31614149T>C	uc001wrc.1	-	16	2986	c.2497_splice	c.e16-1	p.V833_splice	HECTD1_uc001wrd.1_Splice_Site_p.V348_splice	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGTTCGTACCTACCAAAATAA	0.343												
BRMS1L	84312	broad.mit.edu	37	14	36302297	36302297	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:36302297G>A	uc001wtl.2	+	3	473	c.347G>A	c.(346-348)CGT>CAT	p.R116H	BRMS1L_uc010tpx.1_Missense_Mutation_p.R68H	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	116					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				skin(1)	1	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		ATGCAAATTCGTACAAAGGTA	0.363												
KLHL28	54813	broad.mit.edu	37	14	45414495	45414495	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:45414495G>A	uc001wvq.2	-	2	883	c.637C>T	c.(637-639)CGC>TGC	p.R213C	KLHL28_uc001wvr.2_Missense_Mutation_p.R213C|KLHL28_uc001wvt.3_Missense_Mutation_p.R213C	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	213										ovary(1)	1						TATTTCTGGCGTTCTTGTACA	0.353												
FAM179B	23116	broad.mit.edu	37	14	45432458	45432458	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:45432458C>T	uc001wvv.2	+	1	1043	c.834C>T	c.(832-834)TCC>TCT	p.S278S	FAM179B_uc001wvw.2_Silent_p.S278S|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.S278S|FAM179B_uc001wvu.2_Silent_p.S278S	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	278							binding			skin(2)|upper_aerodigestive_tract(1)	3						CAGCTTTCTCCGCACTTCAAC	0.507												
FANCM	57697	broad.mit.edu	37	14	45642325	45642325	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:45642325C>A	uc001wwd.3	+	13	2327	c.2228C>A	c.(2227-2229)CCT>CAT	p.P743H	FANCM_uc010anf.2_Missense_Mutation_p.P717H|FANCM_uc001wwe.3_Missense_Mutation_p.P279H|FANCM_uc010ang.2_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	743					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						CAAGATCATCCTTTGCCTACA	0.388								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
SOS2	6655	broad.mit.edu	37	14	50597471	50597471	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:50597471A>T	uc001wxs.3	-	20	3183	c.3085T>A	c.(3085-3087)TCA>ACA	p.S1029T	SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.S996T	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1029					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					GAAAAAGTTGATTTCCTAGGC	0.378												
FERMT2	10979	broad.mit.edu	37	14	53331480	53331480	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:53331480C>T	uc001xad.2	-	11	1420	c.1365G>A	c.(1363-1365)TGG>TGA	p.W455*	FERMT2_uc001xac.2_Nonsense_Mutation_p.W455*|FERMT2_uc001xae.2_Nonsense_Mutation_p.W455*|FERMT2_uc001xaf.2_Nonsense_Mutation_p.W455*	NM_006832	NP_006823	Q96AC1	FERM2_HUMAN	fermitin family homolog 2 isoform 1	455	FERM.|PH.				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding				0	Breast(41;0.0342)					CACAACGAAGCCAGATTTCAT	0.348												
C14orf105	55195	broad.mit.edu	37	14	57949848	57949848	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:57949848G>A	uc001xcy.2	-	3	471	c.328C>T	c.(328-330)CCA>TCA	p.P110S	C14orf105_uc010trl.1_Missense_Mutation_p.P110S|C14orf105_uc010trm.1_Missense_Mutation_p.P22S|C14orf105_uc010trn.1_Missense_Mutation_p.P22S|C14orf105_uc001xcz.2_Missense_Mutation_p.P110S|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Missense_Mutation_p.P32S	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	110											0						ATTACTCGTGGCAAGTCAATG	0.458												
SYT16	83851	broad.mit.edu	37	14	62567321	62567321	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:62567321C>A	uc001xfu.1	+	6	2031	c.1834C>A	c.(1834-1836)CTG>ATG	p.L612M	SYT16_uc010tse.1_Missense_Mutation_p.L170M	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	612										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTGGATTGCCCTGGGCCAGAA	0.498												
PPP2R5E	5529	broad.mit.edu	37	14	63851209	63851209	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:63851209G>A	uc001xgd.1	-	12	1745	c.1155C>T	c.(1153-1155)CCC>CCT	p.P385P	PPP2R5E_uc010tsf.1_Silent_p.P309P|PPP2R5E_uc010tsg.1_Silent_p.P309P|PPP2R5E_uc001xge.2_Silent_p.P385P|PPP2R5E_uc010tsh.1_Silent_p.P385P|PPP2R5E_uc001xgf.1_RNA	NM_006246	NP_006237	Q16537	2A5E_HUMAN	epsilon isoform of regulatory subunit B56,	385					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)		AAAACATGATGGGAAGGATGA	0.368												
MTHFD1	4522	broad.mit.edu	37	14	64896929	64896929	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:64896929A>G	uc001xhb.2	+	13	1679	c.1292A>G	c.(1291-1293)CAG>CGG	p.Q431R	MTHFD1_uc010aqe.2_Missense_Mutation_p.Q467R|MTHFD1_uc010aqf.2_Missense_Mutation_p.Q487R	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	431	Formyltetrahydrofolate synthetase.				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)	GGCTACTCCCAGGTCATTCCT	0.478											OREG0022729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SPTB	6710	broad.mit.edu	37	14	65289773	65289773	+	Missense_Mutation	SNP	G	G	A	rs147059670	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:65289773G>A	uc001xht.2	-	1	94	c.40C>T	c.(40-42)CCA>TCA	p.P14S	SPTB_uc001xhr.2_Missense_Mutation_p.P14S|SPTB_uc001xhs.2_Missense_Mutation_p.P14S|SPTB_uc001xhu.2_Missense_Mutation_p.P14S	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	14	Actin-binding.				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)		CTGTAAGGTGGCTGGTTGCCC	0.572											OREG0022736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ARG2	384	broad.mit.edu	37	14	68113365	68113365	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:68113365C>A	uc001xjs.2	+	5	643	c.527C>A	c.(526-528)CCA>CAA	p.P176Q		NM_001172	NP_001163	P78540	ARGI2_HUMAN	arginase 2 precursor	176					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding				0				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TCATAGGTACCACAACTCCCA	0.423												
PNMA1	9240	broad.mit.edu	37	14	74180118	74180118	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:74180118G>A	uc001xor.1	-	1	1011	c.225C>T	c.(223-225)GCC>GCT	p.A75A		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	paraneoplastic antigen MA1	75					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		tggggatcgcggcgtaatcta	0												
LTBP2	4053	broad.mit.edu	37	14	74975348	74975348	+	Missense_Mutation	SNP	G	G	A	rs45468895	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:74975348G>A	uc001xqa.2	-	24	3998	c.3611C>T	c.(3610-3612)GCG>GTG	p.A1204V		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1204	Cys-rich.|EGF-like 12; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GAAGCCAGGCGCGCACAGACA	0.622												
LTBP2	4053	broad.mit.edu	37	14	75019032	75019032	+	Silent	SNP	G	G	A	rs150977144		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:75019032G>A	uc001xqa.2	-	6	1644	c.1257C>T	c.(1255-1257)CCC>CCT	p.P419P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	419	EGF-like 2.				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)		TGGAGTTGGCGGGGCACCAGC	0.657												
C14orf148	122945	broad.mit.edu	37	14	77873148	77873148	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:77873148C>T	uc001xtr.2	-	4	748	c.601G>A	c.(601-603)GTC>ATC	p.V201I	C14orf148_uc010tvi.1_Missense_Mutation_p.V201I	NM_001113475	NP_001106946	Q6NXP6	CN148_HUMAN	hypothetical protein LOC122945 isoform 1	201					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GCCCCCCAGACGCTGACAGAA	0.488												
VIPAR	63894	broad.mit.edu	37	14	77917640	77917640	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:77917640C>T	uc001xtt.1	-	5	571	c.233G>A	c.(232-234)AGC>AAC	p.S78N	VIPAR_uc001xtu.1_Missense_Mutation_p.S78N|VIPAR_uc010tvj.1_Intron|VIPAR_uc001xtv.1_Missense_Mutation_p.S78N	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	hypothetical protein LOC63894	78					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding			central_nervous_system(1)	1						GGTTGAGCCGCTATTACCAGC	0.483												
ALKBH1	8846	broad.mit.edu	37	14	78174225	78174225	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:78174225T>G	uc001xuc.1	-	1	132	c.123A>C	c.(121-123)GAA>GAC	p.E41D	ALKBH1_uc001xud.1_RNA|C14orf156_uc001xue.3_5'Flank	NM_006020	NP_006011	Q13686	ALKB1_HUMAN	alkylated DNA repair protein alkB homolog	41					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)|skin(1)	2			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CGATGACCCCTTCCAGGTCTG	0.652											OREG0022840	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ADCK1	57143	broad.mit.edu	37	14	78325507	78325507	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:78325507T>C	uc001xui.2	+	4	407	c.308T>C	c.(307-309)CTG>CCG	p.L103P	ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Intron|ADCK1_uc001xuk.1_5'UTR	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	110						extracellular region	ATP binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CTGGGGGCTCTGGACTACCTG	0.612												
NRXN3	9369	broad.mit.edu	37	14	78709917	78709917	+	RNA	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:78709917C>A	uc001xum.1	+	2		c.1274C>A						Q9Y4C0	NRX3A_HUMAN	Homo sapiens mRNA for KIAA0743 protein, partial cds.						axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACCTTCTGCCCTGACCCTTGA	0.592												
NRXN3	9369	broad.mit.edu	37	14	79181418	79181418	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:79181418C>T	uc001xun.2	+	5	1352	c.861C>T	c.(859-861)GAC>GAT	p.D287D	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.D421D	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	660	EGF-like 2.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGTGCAAGGACGGCTGGAACC	0.577												
FLRT2	23768	broad.mit.edu	37	14	86088697	86088697	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:86088697G>A	uc001xvr.2	+	2	1606	c.839G>A	c.(838-840)CGG>CAG	p.R280Q	FLRT2_uc010atd.2_Missense_Mutation_p.R280Q	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	280	Extracellular (Potential).|LRR 10.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAGCTGGAACGGCTGGATATA	0.483												
KCNK10	54207	broad.mit.edu	37	14	88652342	88652342	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:88652342C>T	uc001xwo.2	-	7	1611	c.1154G>A	c.(1153-1155)CGG>CAG	p.R385Q	KCNK10_uc001xwm.2_Missense_Mutation_p.R390Q|KCNK10_uc001xwn.2_Missense_Mutation_p.R390Q	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	385	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						TGAGTGGGCCCGCTGGTCCAG	0.667												
CALM1	801	broad.mit.edu	37	14	90870757	90870757	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:90870757G>A	uc001xyl.1	+	5	522	c.320G>A	c.(319-321)CGT>CAT	p.R107H	CALM1_uc010atq.1_Missense_Mutation_p.R108H|CALM1_uc010atr.1_RNA|CALM1_uc001xym.1_Missense_Mutation_p.R71H	NM_006888	NP_008819	P62158	CALM_HUMAN	calmodulin 1 isoform 1	107	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)	1		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GCAGAACTACGTCACGTCATG	0.393												
RPS6KA5	9252	broad.mit.edu	37	14	91338514	91338514	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:91338514G>A	uc001xys.2	-	17	2528	c.2313C>T	c.(2311-2313)CAC>CAT	p.H771H	RPS6KA5_uc010twi.1_Silent_p.H692H	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	771					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TAGTTTTACCGTGAGAATGAG	0.507												
GOLGA5	9950	broad.mit.edu	37	14	93275769	93275769	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:93275769C>A	uc001yaz.1	+	4	1079	c.897C>A	c.(895-897)TCC>TCA	p.S299S		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	299	Cytoplasmic (Potential).|Potential.				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CAAAGGATTCCCAGCTGGCTG	0.488			T	RET	papillary thyroid							
BTBD7	55727	broad.mit.edu	37	14	93712224	93712224	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:93712224T>C	uc001ybo.2	-	10	2856	c.2530A>G	c.(2530-2532)ACC>GCC	p.T844A	BTBD7_uc010aur.2_Missense_Mutation_p.T369A|BTBD7_uc010two.1_Missense_Mutation_p.T664A|BTBD7_uc001ybp.2_Missense_Mutation_p.T493A	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7 isoform 1	844										pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		gAGGTGGTGGTGGCGGCAGCA	0.468												
KIAA1409	57578	broad.mit.edu	37	14	94007031	94007031	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:94007031G>A	uc001ybv.1	+	10	930	c.847G>A	c.(847-849)GCT>ACT	p.A283T	KIAA1409_uc001ybs.1_Missense_Mutation_p.A283T|KIAA1409_uc001ybu.1_Missense_Mutation_p.A221T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	460						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CGAGTTCCATGCTGAGCAGCG	0.488												
BCL11B	64919	broad.mit.edu	37	14	99642456	99642456	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:99642456G>A	uc001yga.2	-	4	984	c.717C>T	c.(715-717)CAC>CAT	p.H239H	BCL11B_uc001ygb.2_Silent_p.H168H	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	239	C2H2-type 1.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGTTCTGCGCGTGCTGCAGCA	0.647			T	TLX3	T-ALL							
C14orf68	283600	broad.mit.edu	37	14	100795815	100795815	+	Missense_Mutation	SNP	C	C	T	rs143013015		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:100795815C>T	uc001yhc.2	+	6	833	c.760C>T	c.(760-762)CGC>TGC	p.R254C	C14orf68_uc001yhd.2_Missense_Mutation_p.R108C	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	254	Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				GGGCCAGAGGCGCTACCGGGG	0.667												
WDR25	79446	broad.mit.edu	37	14	100996336	100996336	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:100996336C>T	uc010avx.2	+	7	1686	c.1593C>T	c.(1591-1593)CTC>CTT	p.L531L	WDR25_uc001yhm.2_Silent_p.L523L|WDR25_uc001yhn.2_Silent_p.L531L|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_Silent_p.L274L	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	531	WD 7.										0		Melanoma(154;0.212)				CCTCCGTCCTCGCCACCTGCT	0.617												
BEGAIN	57596	broad.mit.edu	37	14	101004698	101004698	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:101004698C>T	uc010txa.1	-	6	1536	c.1390G>A	c.(1390-1392)GCC>ACC	p.A464T	BEGAIN_uc001yhp.2_Missense_Mutation_p.A400T|BEGAIN_uc001yhq.2_Missense_Mutation_p.A464T	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	464						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				AGCGGGCTGGCGCGGCCGTCG	0.736												
DLK1	8788	broad.mit.edu	37	14	101198519	101198519	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:101198519G>A	uc001yhs.3	+	4	556	c.403G>A	c.(403-405)GGC>AGC	p.G135S	DLK1_uc001yhu.3_Missense_Mutation_p.G135S	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	135	Extracellular (Potential).|EGF-like 4.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)|breast(1)|skin(1)	4		Melanoma(154;0.155)				TGTGATCAACGGGTAAATATC	0.542												
RCOR1	23186	broad.mit.edu	37	14	103148247	103148247	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:103148247G>A	uc001ymb.2	+	3	368	c.368G>A	c.(367-369)CGC>CAC	p.R123H		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	123	Interaction with HDAC1.|ELM2.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			ovary(1)	1						CTGGCAAGACGCAGTCAAGAA	0.358												
AHNAK2	113146	broad.mit.edu	37	14	105406225	105406225	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:105406225C>T	uc010axc.1	-	7	15683	c.15563G>A	c.(15562-15564)AGC>AAC	p.S5188N	AHNAK2_uc001ypx.2_Missense_Mutation_p.S5088N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5188						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTAAACCAGCTTTCCTGCGA	0.562												
BRF1	2972	broad.mit.edu	37	14	105688094	105688094	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:105688094G>A	uc001yqp.2	-	11	1569	c.1206C>T	c.(1204-1206)GGC>GGT	p.G402G	BRF1_uc010tyo.1_Silent_p.G287G|BRF1_uc010typ.1_Silent_p.G287G|BRF1_uc001yqk.2_5'UTR|BRF1_uc001yql.2_Silent_p.G198G|BRF1_uc001yqo.2_Silent_p.G164G|BRF1_uc010axg.1_Silent_p.G375G|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_5'UTR	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	402					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GAGGTCTGCCGCCCCACTCGG	0.667												
NDN	4692	broad.mit.edu	37	15	23932203	23932203	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:23932203G>A	uc001ywk.2	-	1	248	c.162C>T	c.(160-162)GCC>GCT	p.A54A		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	54					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GAGGCGGCGCGGCCTGCGGAG	0.771									Prader-Willi_syndrome			
HERC2	8924	broad.mit.edu	37	15	28420752	28420752	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:28420752C>T	uc001zbj.2	-	64	9843	c.9737G>A	c.(9736-9738)CGG>CAG	p.R3246Q		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3246	RCC1 11.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGTGGTTTCCGCACGTGCAC	0.592												
HERC2	8924	broad.mit.edu	37	15	28518100	28518100	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:28518100T>C	uc001zbj.2	-	8	957	c.851A>G	c.(850-852)CAG>CGG	p.Q284R	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	284					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGCTGGTCCTGCAGGGGGAT	0.612												
APBA2	321	broad.mit.edu	37	15	29385352	29385352	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:29385352C>T	uc001zck.2	+	6	1351	c.1144C>T	c.(1144-1146)CTG>TTG	p.L382L	APBA2_uc010azj.2_Silent_p.L382L|APBA2_uc010uat.1_Silent_p.L382L|APBA2_uc001zcl.2_Silent_p.L382L|APBA2_uc001zcm.1_Silent_p.L86L	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	382	PID.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GTCCACCCAGCTGCTATCAGA	0.582												
OTUD7A	161725	broad.mit.edu	37	15	31818590	31818590	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:31818590C>T	uc001zfq.2	-	6	927	c.834G>A	c.(832-834)CCG>CCA	p.P278P	OTUD7A_uc001zfr.2_Silent_p.P285P	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	278	OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).					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)		AGTGTGTGCGCGGCTCGCTGG	0.667												
RYR3	6263	broad.mit.edu	37	15	33954617	33954617	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:33954617A>G	uc001zhi.2	+	35	4956	c.4886A>G	c.(4885-4887)TAC>TGC	p.Y1629C	RYR3_uc010bar.2_Missense_Mutation_p.Y1629C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1629	4 X approximate repeats.|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)		AAGAACGAGTACATCATCCCC	0.562												
RYR3	6263	broad.mit.edu	37	15	34042195	34042195	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:34042195G>A	uc001zhi.2	+	56	8285	c.8215G>A	c.(8215-8217)GTG>ATG	p.V2739M	RYR3_uc010bar.2_Missense_Mutation_p.V2739M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2739	4.|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)		GGTGGAGGTCGTGGCTGAGAA	0.507												
CHRM5	1133	broad.mit.edu	37	15	34355445	34355445	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:34355445G>A	uc001zhk.1	+	3	1197	c.527G>A	c.(526-528)CGG>CAG	p.R176Q	CHRM5_uc001zhl.1_Missense_Mutation_p.R176Q	NM_012125	NP_036257	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	176	Extracellular (By similarity).				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GTTGGGAAGCGGACAGTTCCA	0.542												
FSIP1	161835	broad.mit.edu	37	15	40034091	40034091	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:40034091A>G	uc001zki.2	-	6	788	c.570T>C	c.(568-570)CAT>CAC	p.H190H		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	190										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CTTCCTCCTCATGAGAAGGAC	0.299												
BAHD1	22893	broad.mit.edu	37	15	40750842	40750842	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:40750842G>A	uc001zlu.2	+	2	250	c.179G>A	c.(178-180)CGC>CAC	p.R60H	BAHD1_uc001zlt.2_Missense_Mutation_p.R60H|BAHD1_uc010bbp.1_Missense_Mutation_p.R60H|BAHD1_uc001zlv.2_Missense_Mutation_p.R60H	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	60					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CTTCGTAAGCGCCCATTGGTT	0.617												
TYRO3	7301	broad.mit.edu	37	15	41860557	41860557	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:41860557C>A	uc001zof.1	+	8	1328	c.1104C>A	c.(1102-1104)ACC>ACA	p.T368T		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	368	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAATGGAACCCAGGTAAGAC	0.517												
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42139947	42139947	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:42139947C>T	uc010bco.2	+	20	2336	c.2235C>T	c.(2233-2235)GAC>GAT	p.D745D	JMJD7-PLA2G4B_uc001zoo.3_Silent_p.D976D|JMJD7-PLA2G4B_uc010bcn.2_3'UTR|JMJD7-PLA2G4B_uc001zoq.3_Silent_p.D446D	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	745	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						GCCAGGAGGACGTGGACAAGC	0.632												
CDAN1	146059	broad.mit.edu	37	15	43026452	43026452	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:43026452C>T	uc001zql.2	-	7	1346	c.1229G>A	c.(1228-1230)CGA>CAA	p.R410Q	CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_Intron	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	410						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		ATAGGCAGCTCGAAGGCGGCC	0.557												
TGM5	9333	broad.mit.edu	37	15	43527731	43527731	+	Silent	SNP	G	G	A	rs143745718		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:43527731G>A	uc001zrd.1	-	10	1658	c.1650C>T	c.(1648-1650)CAC>CAT	p.H550H	TGM5_uc001zrc.1_Silent_p.H207H|TGM5_uc001zre.1_Silent_p.H468H	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	550					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGCTGCCATCGTGCAGCAGAG	0.542												
CATSPER2	117155	broad.mit.edu	37	15	43931885	43931885	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:43931885G>A	uc001zsh.2	-	6	888	c.673C>T	c.(673-675)CGT>TGT	p.R225C	CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.R225C|CATSPER2_uc001zsj.2_Missense_Mutation_p.R225C|CATSPER2_uc001zsk.2_3'UTR	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	225	Helical; Name=Segment S4; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGAATTTGACGGAATTGTGCA	0.493												
FBN1	2200	broad.mit.edu	37	15	48760294	48760294	+	Missense_Mutation	SNP	G	G	A	rs111401431		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:48760294G>A	uc001zwx.1	-	38	4916	c.4588C>T	c.(4588-4590)CGC>TGC	p.R1530C	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1530			R -> C (in EL).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTCCAGAGCGGGTATCTATT	0.418												
SECISBP2L	9728	broad.mit.edu	37	15	49284489	49284489	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:49284489C>T	uc001zxe.1	-	18	3392	c.3258G>A	c.(3256-3258)TCG>TCA	p.S1086S	SECISBP2L_uc001zxd.1_Silent_p.S1041S	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	1086										breast(1)|skin(1)	2						CTTTGTTGAGCGAGCTGCAGT	0.547												
ATP8B4	79895	broad.mit.edu	37	15	50264869	50264870	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:50264869_50264870GC>TT	uc001zxu.2	-	13	1294_1295	c.1152_1153GC>AA	c.(1150-1155)GGGCAG>GGAAAG	p.Q385K	ATP8B4_uc010ber.2_Missense_Mutation_p.Q258K|ATP8B4_uc010ufd.1_Missense_Mutation_p.Q258K|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	385	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TACTCAATCTGCCCCAGTTCCT	0.416												
GLDN	342035	broad.mit.edu	37	15	51696612	51696612	+	Silent	SNP	G	G	A	rs149359078	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:51696612G>A	uc002aba.2	+	10	1486	c.1317G>A	c.(1315-1317)GCG>GCA	p.A439A	GLDN_uc002abb.2_Silent_p.A315A	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	439	Extracellular (Potential).|Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TTATCTATGCGTCAAGTGTGG	0.418												
KIAA1370	56204	broad.mit.edu	37	15	52903829	52903829	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:52903829G>A	uc002acg.3	-	4	500	c.347C>T	c.(346-348)GCG>GTG	p.A116V	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.A28V|KIAA1370_uc010ugf.1_Missense_Mutation_p.A123V	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	116											0				all cancers(107;0.0803)		TTGCTTAATCGCAGGATCATT	0.413												
CCPG1	9236	broad.mit.edu	37	15	55664165	55664165	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:55664165G>A	uc002acv.1	-	6	697	c.532C>T	c.(532-534)CGC>TGC	p.R178C	CCPG1_uc002acy.2_Missense_Mutation_p.R178C|CCPG1_uc002acu.1_Missense_Mutation_p.R34C|CCPG1_uc002acw.1_Translation_Start_Site|CCPG1_uc002acx.2_Missense_Mutation_p.R178C|CCPG1_uc010bfk.1_Missense_Mutation_p.R178C|CCPG1_uc002acz.1_Missense_Mutation_p.R178C	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	178	Cytoplasmic (Potential).|Poly-Arg.|Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		CTAGCACGGCGTCGTCTAAAG	0.423												
TCF12	6938	broad.mit.edu	37	15	57565390	57565390	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:57565390A>C	uc002aec.2	+	18	2120	c.1836A>C	c.(1834-1836)AAA>AAC	p.K612N	TCF12_uc010ugm.1_Missense_Mutation_p.K664N|TCF12_uc010ugn.1_Missense_Mutation_p.K632N|TCF12_uc002aea.2_Missense_Mutation_p.K636N|TCF12_uc010bfs.2_Missense_Mutation_p.K33N|TCF12_uc002aeb.2_Missense_Mutation_p.K636N|TCF12_uc002aed.2_Missense_Mutation_p.K612N|TCF12_uc002aee.2_Missense_Mutation_p.K442N|TCF12_uc010bft.2_Missense_Mutation_p.K466N|TCF12_uc010ugo.1_Missense_Mutation_p.K376N|TCF12_uc010ugp.1_Missense_Mutation_p.K269N|TCF12_uc010ugq.1_Missense_Mutation_p.K246N|TCF12_uc010ugr.1_Missense_Mutation_p.K225N	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	612	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		AGAGTGAAAAACCCCAAACAA	0.453			T	TEC	extraskeletal myxoid chondrosarcoma							
CGNL1	84952	broad.mit.edu	37	15	57730401	57730401	+	Silent	SNP	G	G	A	rs143019005		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:57730401G>A	uc002aeg.2	+	2	280	c.204G>A	c.(202-204)TCG>TCA	p.S68S	CGNL1_uc010bfw.2_Silent_p.S68S	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	68	Head.					myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAGGCACATCGTTTTCTGAAA	0.493												
LIPC	3990	broad.mit.edu	37	15	58840557	58840557	+	Silent	SNP	C	C	T	rs146299102	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:58840557C>T	uc010bga.1	+	8	1445	c.837C>T	c.(835-837)CAC>CAT	p.H279H	LIPC_uc010bfz.1_Silent_p.H279H|LIPC_uc002afa.1_Silent_p.H279H|LIPC_uc010bgb.1_Silent_p.H177H|LIPC_uc010ugy.1_Silent_p.H218H	NM_000236	NP_000227	P11150	LIPC_HUMAN	lipase C precursor	279		Charge relay system (By similarity).			cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			ovary(1)	1		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AATGCTCCCACGAGCGATCGG	0.567												
FAM63B	54629	broad.mit.edu	37	15	59063818	59063818	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:59063818T>C	uc002afj.2	+	1	426	c.224T>C	c.(223-225)GTT>GCT	p.V75A	FAM63B_uc002afi.2_Missense_Mutation_p.V75A|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	75										central_nervous_system(1)	1						TCTCCTGAGGTTCCCGGACCC	0.701												
SLTM	79811	broad.mit.edu	37	15	59181683	59181683	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:59181683C>T	uc002afp.2	-	16	2238	c.2150G>A	c.(2149-2151)CGT>CAT	p.R717H	SLTM_uc002afn.2_Missense_Mutation_p.R259H|SLTM_uc002afo.2_Missense_Mutation_p.R699H|SLTM_uc002afq.2_Missense_Mutation_p.R286H|SLTM_uc010bgd.2_Missense_Mutation_p.R286H	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	717	Arg/Glu-rich.|Potential.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						TTGTTCATAACGAAGCTGCTG	0.408												
RORA	6095	broad.mit.edu	37	15	60792113	60792113	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:60792113C>T	uc002agv.2	-	11	1640	c.1484G>A	c.(1483-1485)CGA>CAA	p.R495Q	uc002ags.1_Intron|RORA_uc002agt.3_Missense_Mutation_p.R407Q|RORA_uc002agw.2_Missense_Mutation_p.R487Q|RORA_uc002agx.2_Missense_Mutation_p.R462Q	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	495	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TCCATCTTCTCGGTGATTCTT	0.423												
VPS13C	54832	broad.mit.edu	37	15	62274697	62274697	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:62274697A>C	uc002agz.2	-	21	2064	c.1990T>G	c.(1990-1992)TTG>GTG	p.L664V	VPS13C_uc002aha.2_Missense_Mutation_p.L621V|VPS13C_uc002ahb.1_Missense_Mutation_p.L664V|VPS13C_uc002ahc.1_Missense_Mutation_p.L621V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	664					protein localization					ovary(2)	2						AGCTTCATCAATGTTGCTGAT	0.323												
TLN2	83660	broad.mit.edu	37	15	63073397	63073397	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:63073397T>C	uc002alb.3	+	41	5573	c.5573T>C	c.(5572-5574)GTG>GCG	p.V1858A	TLN2_uc002alc.3_Missense_Mutation_p.V251A|TLN2_uc002ald.2_Missense_Mutation_p.V251A	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1858					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						CAGACGACTGTGGTTAAATAC	0.488												
SNX1	6642	broad.mit.edu	37	15	64411006	64411006	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:64411006A>G	uc002amv.2	+	4	455	c.419A>G	c.(418-420)GAG>GGG	p.E140G	SNX1_uc010bgv.2_Intron|SNX1_uc010uio.1_Missense_Mutation_p.E140G|SNX1_uc002amw.2_Missense_Mutation_p.E140G|SNX1_uc002amx.2_Intron|SNX1_uc002amy.2_Missense_Mutation_p.E69G|SNX1_uc010bgw.2_Missense_Mutation_p.E42G	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a	140					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0						GAAGAACAGGAGGATCAATTT	0.363												
CT62	196993	broad.mit.edu	37	15	71403497	71403497	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:71403497C>T	uc002ata.2	-	4	917	c.404G>A	c.(403-405)AGG>AAG	p.R135K		NM_001102658	NP_001096128	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	135											0						TTCCTATCTCCTCTGACCAGA	0.433												
C15orf60	283677	broad.mit.edu	37	15	73852106	73852106	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:73852106C>T	uc002avq.2	+	6	678	c.650C>T	c.(649-651)TCG>TTG	p.S217L	C15orf60_uc010bjb.2_Missense_Mutation_p.S189L	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	hypothetical protein LOC283677	217										pancreas(1)	1						CTTCTGGCATCGGAGGAGCTG	0.458												
NPTN	27020	broad.mit.edu	37	15	73889393	73889393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:73889393G>A	uc002avs.2	-	2	606	c.409C>T	c.(409-411)CGA>TGA	p.R137*	NPTN_uc010bjc.2_Nonsense_Mutation_p.R137*|NPTN_uc002avt.2_Intron|NPTN_uc002avr.2_Intron|NPTN_uc010ula.1_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	137	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding				0						GCCTGGGCTCGAATCCATGTT	0.547												
PML	5371	broad.mit.edu	37	15	74290799	74290799	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:74290799G>A	uc002awv.2	+	2	724	c.584G>A	c.(583-585)CGC>CAC	p.R195H	PML_uc002awm.2_Missense_Mutation_p.R195H|PML_uc002awl.2_Missense_Mutation_p.R195H|PML_uc002awj.1_Missense_Mutation_p.R195H|PML_uc002awk.2_Missense_Mutation_p.R195H|PML_uc002awn.2_Missense_Mutation_p.R195H|PML_uc002awo.2_Missense_Mutation_p.R195H|PML_uc002awp.2_Missense_Mutation_p.R195H|PML_uc002awq.2_Missense_Mutation_p.R195H|PML_uc002awr.2_Missense_Mutation_p.R195H|PML_uc002aws.2_Missense_Mutation_p.R195H|PML_uc002awt.2_Missense_Mutation_p.R195H|PML_uc002awu.2_Missense_Mutation_p.R195H|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.R110H	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	195	B box-type 2.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						CCCAACCACCGCACCCCTACG	0.622			T	RARA|PAX5	APL|ALL							
PML	5371	broad.mit.edu	37	15	74315437	74315437	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:74315437C>T	uc002awv.2	+	3	1011	c.871C>T	c.(871-873)CGG>TGG	p.R291W	PML_uc002awm.2_Missense_Mutation_p.R291W|PML_uc002awl.2_Missense_Mutation_p.R291W|PML_uc002awj.1_Missense_Mutation_p.R291W|PML_uc002awk.2_Missense_Mutation_p.R291W|PML_uc002awn.2_Missense_Mutation_p.R291W|PML_uc002awo.2_Missense_Mutation_p.R291W|PML_uc002awp.2_Missense_Mutation_p.R291W|PML_uc002awq.2_Missense_Mutation_p.R291W|PML_uc002awr.2_Missense_Mutation_p.R291W|PML_uc002aws.2_Missense_Mutation_p.R291W|PML_uc002awt.2_Missense_Mutation_p.R291W|PML_uc002awu.2_Missense_Mutation_p.R291W|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.R206W|PML_uc002awx.2_Missense_Mutation_p.R49W|PML_uc002awy.2_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	291					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						AGCTCACGTGCGGGCTCAGGA	0.721			T	RARA|PAX5	APL|ALL							
ISLR2	57611	broad.mit.edu	37	15	74425314	74425314	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:74425314C>T	uc002axd.2	+	4	988	c.219C>T	c.(217-219)GAC>GAT	p.D73D	ISLR2_uc002axe.2_Silent_p.D73D|ISLR2_uc010bjg.2_Silent_p.D73D|ISLR2_uc010bjf.2_Silent_p.D73D	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	73	LRR 1.|Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CCTTCGCCGACGTCACACAGG	0.632												
SIN3A	25942	broad.mit.edu	37	15	75676745	75676745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:75676745G>A	uc002bai.2	-	17	3314	c.3055C>T	c.(3055-3057)CAG>TAG	p.Q1019*	SIN3A_uc002baj.2_Nonsense_Mutation_p.Q1019*|SIN3A_uc010uml.1_Nonsense_Mutation_p.Q1019*	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	1019					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						TCAGTCACCTGCACACAGATC	0.473												
LINGO1	84894	broad.mit.edu	37	15	77906695	77906695	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:77906695C>T	uc002bct.1	-	2	1606	c.1554G>A	c.(1552-1554)TCG>TCA	p.S518S	LINGO1_uc002bcu.1_Silent_p.S512S	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	518	Extracellular (Potential).				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						GCCAGTCGGGCGAGTAGCTGC	0.662												
LINGO1	84894	broad.mit.edu	37	15	77907658	77907658	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:77907658C>T	uc002bct.1	-	2	643	c.591G>A	c.(589-591)ACG>ACA	p.T197T	LINGO1_uc002bcu.1_Silent_p.T191T	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	197	Extracellular (Potential).|LRR 6.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						ATTTCTCCAGCGTCAGCTGCT	0.602												
IREB2	3658	broad.mit.edu	37	15	78777250	78777250	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:78777250A>G	uc002bdr.2	+	12	1723	c.1561A>G	c.(1561-1563)ATG>GTG	p.M521V	IREB2_uc010unb.1_Missense_Mutation_p.M271V	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	521							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TCCATCTGTCATGCTTGCTGC	0.373												
IREB2	3658	broad.mit.edu	37	15	78790472	78790472	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:78790472G>A	uc002bdr.2	+	22	3041	c.2879G>A	c.(2878-2880)CGA>CAA	p.R960Q	IREB2_uc010unb.1_Missense_Mutation_p.R710Q	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	960							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTTGTGGCACGAAAATTCTCA	0.388												
CTSH	1512	broad.mit.edu	37	15	79215386	79215386	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:79215386A>G	uc002ben.2	-	12	942	c.845T>C	c.(844-846)ATC>ACC	p.I282T	CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Missense_Mutation_p.I134T	NM_148979	NP_683880	P09668	CATH_HUMAN	cathepsin H isoform b precursor	294					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(2)|large_intestine(1)	3						CCAGTAAGGGATCCCATTTTT	0.483												
RASGRF1	5923	broad.mit.edu	37	15	79339155	79339155	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:79339155G>A	uc002beq.2	-	5	1186	c.811C>T	c.(811-813)CGG>TGG	p.R271W	RASGRF1_uc002bep.2_Missense_Mutation_p.R271W|RASGRF1_uc010blm.1_Missense_Mutation_p.R193W|RASGRF1_uc002ber.3_Missense_Mutation_p.R271W	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	271	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						GCGGCCATCCGCAGCGGGCGC	0.587												
KIAA1199	57214	broad.mit.edu	37	15	81241173	81241173	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:81241173C>T	uc002bfw.1	+	29	4254	c.3994C>T	c.(3994-3996)CGG>TGG	p.R1332W	KIAA1199_uc010unn.1_Missense_Mutation_p.R1332W|MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1332										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						AGGCAGCTTCCGGCCCATCTG	0.522												
IL16	3603	broad.mit.edu	37	15	81585075	81585075	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:81585075G>A	uc002bgh.3	+	12	1975	c.1599G>A	c.(1597-1599)CCG>CCA	p.P533P	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Silent_p.P533P|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.P575P|IL16_uc002bgg.2_Silent_p.P533P|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Silent_p.P27P|IL16_uc002bgk.2_5'Flank	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	533					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						CTGAGAAGCCGTCCTCTGACG	0.617												
IL16	3603	broad.mit.edu	37	15	81585364	81585364	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:81585364C>A	uc002bgh.3	+	12	2264	c.1888C>A	c.(1888-1890)CCC>ACC	p.P630T	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Intron|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.P672T|IL16_uc002bgg.2_Missense_Mutation_p.P630T|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Missense_Mutation_p.P124T|IL16_uc002bgk.2_5'Flank	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	630					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						GCACACCCCACCCACCTGTGG	0.507												
WHAMM	123720	broad.mit.edu	37	15	83499704	83499704	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:83499704C>A	uc002bje.2	+	9	2501	c.1995C>A	c.(1993-1995)TCC>TCA	p.S665S		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	665						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0						TGTCCTCATCCTCTCAAGCTG	0.398												
HOMER2	9455	broad.mit.edu	37	15	83523521	83523521	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:83523521G>A	uc002bjg.2	-	6	745	c.559C>T	c.(559-561)CTG>TTG	p.L187L	HOMER2_uc002bjh.2_Silent_p.L176L|HOMER2_uc002bjj.2_Intron|HOMER2_uc002bji.2_Intron	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	homer 2 isoform 2	187	Potential.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane					0						AGGGTCTGCAGCTCGATCTCC	0.652												
ADAMTSL3	57188	broad.mit.edu	37	15	84506931	84506931	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:84506931C>T	uc002bjz.3	+	7	915	c.691C>T	c.(691-693)CGG>TGG	p.R231W	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.R231W|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R231W|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.R231W	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	231						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGGCTTGTACGGGGACAATC	0.478												
ACAN	176	broad.mit.edu	37	15	89391193	89391193	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:89391193C>T	uc010upo.1	+	9	2030	c.1656C>T	c.(1654-1656)AGC>AGT	p.S552S	ACAN_uc002bmx.2_Silent_p.S552S|ACAN_uc010upp.1_Silent_p.S552S|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	552					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGGACAGCAGCCCAGGGGTCA	0.567												
FES	2242	broad.mit.edu	37	15	91428691	91428691	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:91428691G>A	uc002bpv.2	+	3	359	c.263G>A	c.(262-264)CGG>CAG	p.R88Q	FES_uc010uqj.1_Intron|FES_uc010uqk.1_Intron|FES_uc002bpw.2_RNA|FES_uc010bny.2_Intron|FES_uc002bpx.2_Missense_Mutation_p.R88Q|FES_uc002bpy.2_Intron	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	88	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CGCTTGCTGCGGCAGCACGCA	0.632												
ALDH1A3	220	broad.mit.edu	37	15	101434257	101434257	+	Silent	SNP	C	C	T	rs149815923		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:101434257C>T	uc002bwn.3	+	6	740	c.636C>T	c.(634-636)ACC>ACT	p.T212T	ALDH1A3_uc010bpb.2_Intron|uc002bwo.1_RNA	NM_000693	NP_000684	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1A3	212					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			central_nervous_system(2)|lung(1)|pancreas(1)	4	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CACCTCTCACCGCCCTTTATC	0.542												
RAB40C	57799	broad.mit.edu	37	16	677598	677598	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:677598G>A	uc002chr.2	+	6	938	c.822G>A	c.(820-822)TCG>TCA	p.S274S	RAB40C_uc002chq.2_Silent_p.S255S|WFIKKN1_uc002chs.1_5'Flank	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	274					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				AGAACTGCTCGCGGAGTAACT	0.692												
MAPK8IP3	23162	broad.mit.edu	37	16	1818599	1818599	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:1818599C>T	uc002cmk.2	+	31	3981	c.3861C>T	c.(3859-3861)GGC>GGT	p.G1287G	MAPK8IP3_uc002cml.2_Silent_p.G1281G|MAPK8IP3_uc010uvl.1_Silent_p.G1288G	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1287					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						TGCTGAGCGGCGGGGAGGGCT	0.706												
HAGH	3029	broad.mit.edu	37	16	1869196	1869196	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:1869196G>A	uc002cna.2	-	5	868	c.461C>T	c.(460-462)GCG>GTG	p.A154V	HAGH_uc002cmz.2_Missense_Mutation_p.A106V|HAGH_uc010uvp.1_Intron|HAGH_uc002cnb.1_Missense_Mutation_p.A106V|HAGH_uc010bry.1_Missense_Mutation_p.A154V	NM_005326	NP_005317	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase isoform 1	154					glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			ovary(1)	1		Hepatocellular(780;0.00335)			Glutathione(DB00143)	GCACGGGGTCGCCAGGCACTT	0.637												
SRRM2	23524	broad.mit.edu	37	16	2815810	2815810	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:2815810C>T	uc002crk.2	+	11	5830	c.5281C>T	c.(5281-5283)CGC>TGC	p.R1761C	SRRM2_uc002crj.1_Missense_Mutation_p.R1665C|SRRM2_uc002crl.1_Missense_Mutation_p.R1761C|SRRM2_uc010bsu.1_Missense_Mutation_p.R1665C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1761	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AAGGAGAGGCCGCTCTCCTTC	0.577												
CREBBP	1387	broad.mit.edu	37	16	3781927	3781927	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:3781927G>A	uc002cvv.2	-	29	4944	c.4740C>T	c.(4738-4740)GGC>GGT	p.G1580G	CREBBP_uc002cvw.2_Silent_p.G1542G	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1580	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		tcttgctgtcgCCCTGACTGC	0.388			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
ADCY9	115	broad.mit.edu	37	16	4164580	4164580	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:4164580G>A	uc002cvx.2	-	2	1403	c.864C>T	c.(862-864)CAC>CAT	p.H288H		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	288	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						GGATGCAGCCGTGGAGCAGCC	0.632												
TFAP4	7023	broad.mit.edu	37	16	4311899	4311899	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:4311899C>T	uc010uxg.1	-	4	660	c.406G>A	c.(406-408)GGC>AGC	p.G136S		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	136					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						GAGCCTATGCCTTCGTCCTTG	0.672											OREG0023575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C16orf5	29965	broad.mit.edu	37	16	4563767	4563767	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:4563767C>T	uc002cwu.2	-	3	466	c.171G>A	c.(169-171)CCG>CCA	p.P57P	C16orf5_uc002cwv.2_Silent_p.P57P|C16orf5_uc002cww.2_Silent_p.P57P|C16orf5_uc010uxl.1_Silent_p.P57P|C16orf5_uc010uxm.1_Intron|C16orf5_uc010btu.2_RNA	NM_013399	NP_037531	Q9H305	LITFL_HUMAN	cell death inducing protein	57	Pro-rich.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|tumor necrosis factor-mediated signaling pathway	nucleus				ovary(1)	1		Ovarian(90;0.17)				TTGGGTGACCCGGCGGCTCAT	0.652												
SEC14L5	9717	broad.mit.edu	37	16	5038280	5038280	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:5038280C>T	uc002cye.2	+	4	524	c.344C>T	c.(343-345)ACG>ATG	p.T115M		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	115	PRELI/MSF1.					integral to membrane|intracellular	transporter activity				0						TGCAGCTACACGGTGAGCCCA	0.637												
USP7	7874	broad.mit.edu	37	16	9014266	9014266	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:9014266G>A	uc002czl.2	-	5	760	c.561C>T	c.(559-561)GAC>GAT	p.D187D	USP7_uc010uyk.1_Silent_p.D88D|USP7_uc010uyj.1_Silent_p.D88D|USP7_uc002czk.2_Silent_p.D171D|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	187	Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.|Interaction with TSPYL5.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						AGGTAACTTTGTCATCATCTA	0.373												
C16orf63	123811	broad.mit.edu	37	16	15977964	15977964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:15977964G>A	uc002dec.1	-	2	132	c.127C>T	c.(127-129)CGA>TGA	p.R43*	C16orf63_uc002ded.1_Nonsense_Mutation_p.R43*	NM_144600	NP_653201	Q96NB1	FOPNL_HUMAN	hypothetical protein LOC123811	43	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding				0						AATGATGGTCGGGGTTCACGG	0.378												
ABCC1	4363	broad.mit.edu	37	16	16205288	16205288	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:16205288C>A	uc010bvi.2	+	22	3103	c.2928C>A	c.(2926-2928)TTC>TTA	p.F976L	ABCC1_uc010bvj.2_Missense_Mutation_p.F917L|ABCC1_uc010bvk.2_Missense_Mutation_p.F920L|ABCC1_uc010bvl.2_Missense_Mutation_p.F976L|ABCC1_uc010bvm.2_Missense_Mutation_p.F861L|ABCC1_uc002del.3_Missense_Mutation_p.F870L	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	976	Helical; Name=12.|ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCATCTCCTTCCTCAGCATCT	0.522												
GPRC5B	51704	broad.mit.edu	37	16	19883588	19883588	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:19883588C>T	uc002dgt.2	-	2	688	c.580G>A	c.(580-582)GCC>ACC	p.A194T	GPRC5B_uc010vav.1_Missense_Mutation_p.A220T	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	194	Extracellular (Potential).									lung(1)|breast(1)|skin(1)	3						GGCTCGTAGGCGCAGGCTGGC	0.612												
OTOA	146183	broad.mit.edu	37	16	21709120	21709120	+	Missense_Mutation	SNP	C	C	T	rs149668552		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:21709120C>T	uc002djh.2	+	9	765	c.764C>T	c.(763-765)GCG>GTG	p.A255V	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.A176V	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	255					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		TGGGTCAGTGCGGAACACTTA	0.303												
PDZD9	255762	broad.mit.edu	37	16	22000062	22000062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:22000062G>A	uc002dka.1	-	4	393	c.76C>T	c.(76-78)CGA>TGA	p.R26*		NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	hypothetical protein LOC255762	88	PDZ.									pancreas(1)	1						AAAAATTCTCGAAGAGTATAT	0.353												
HS3ST2	9956	broad.mit.edu	37	16	22926592	22926592	+	Silent	SNP	C	C	T	rs144169281		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:22926592C>T	uc002dli.2	+	2	885	c.813C>T	c.(811-813)TTC>TTT	p.F271F	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	271	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		AGATTCACTTCGTCAGTGGCG	0.582												
USP31	57478	broad.mit.edu	37	16	23102071	23102071	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:23102071C>T	uc002dll.2	-	7	1289	c.1289G>A	c.(1288-1290)AGA>AAA	p.R430K		NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	430					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		AGAAGACAGTCTATGATAATC	0.378												
RBBP6	5930	broad.mit.edu	37	16	24580275	24580275	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:24580275G>A	uc002dmh.2	+	17	3304	c.2264G>A	c.(2263-2265)CGA>CAA	p.R755Q	RBBP6_uc010vcb.1_Missense_Mutation_p.R622Q|RBBP6_uc002dmi.2_Missense_Mutation_p.R721Q|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.R588Q	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	755					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		GGATATCATCGATCTAGGTCA	0.478												
GTF3C1	2975	broad.mit.edu	37	16	27481681	27481681	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:27481681G>A	uc002dov.1	-	31	4602	c.4562C>T	c.(4561-4563)ACG>ATG	p.T1521M	GTF3C1_uc002dou.2_Missense_Mutation_p.T1521M	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1521						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						GAATGACTCCGTGCAGATGGT	0.502												
GTF3C1	2975	broad.mit.edu	37	16	27503681	27503681	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:27503681G>A	uc002dov.1	-	19	3169	c.3129C>T	c.(3127-3129)TGC>TGT	p.C1043C	GTF3C1_uc002dou.2_Silent_p.C1043C	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1043						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TGAGGCAGACGCACTGCAGGT	0.552												
ATXN2L	11273	broad.mit.edu	37	16	28846877	28846877	+	Missense_Mutation	SNP	C	C	T	rs137943525	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:28846877C>T	uc002drc.2	+	21	2861	c.2693C>T	c.(2692-2694)GCG>GTG	p.A898V	uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.A898V|ATXN2L_uc002dqy.2_Missense_Mutation_p.A898V|ATXN2L_uc002dra.2_Missense_Mutation_p.A898V|ATXN2L_uc002dqz.2_Missense_Mutation_p.A898V|ATXN2L_uc010vdb.1_Missense_Mutation_p.A904V|ATXN2L_uc002dre.2_Missense_Mutation_p.A898V|ATXN2L_uc002drf.2_Missense_Mutation_p.A307V|ATXN2L_uc002drg.2_Missense_Mutation_p.A181V	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	898						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						CAGCATCAGGCGGGGCAGGCC	0.652												
PHKG2	5261	broad.mit.edu	37	16	30768336	30768336	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:30768336G>T	uc002dzk.1	+	10	1232	c.1139G>T	c.(1138-1140)GGG>GTG	p.G380V	PHKG2_uc002dzi.1_Missense_Mutation_p.G384V|PHKG2_uc002dzj.1_Missense_Mutation_p.G278V	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	380					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			CGGCCCCCTGGGCCTTTTCCC	0.612												
ITGAM	3684	broad.mit.edu	37	16	31288261	31288261	+	Silent	SNP	T	T	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:31288261T>G	uc002ebq.2	+	11	1202	c.1104T>G	c.(1102-1104)ACT>ACG	p.T368T	ITGAM_uc002ebr.2_Silent_p.T368T|ITGAM_uc010cam.1_Silent_p.T19T	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	368	FG-GAP 3.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						TGCTGAGCACTGTGGGGAGCT	0.493												
DNAJA2	10294	broad.mit.edu	37	16	46991017	46991017	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:46991017C>T	uc002eeo.2	-	9	1305	c.1163G>A	c.(1162-1164)CGT>CAT	p.R388H	DNAJA2_uc002eep.2_Missense_Mutation_p.R305H	NM_005880	NP_005871	O60884	DNJA2_HUMAN	DnaJ subfamily A member 2	388					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			lung(1)	1		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				ATAGGCTTCACGCCTCTGACC	0.483												
ABCC12	94160	broad.mit.edu	37	16	48149395	48149395	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:48149395G>A	uc002efc.1	-	13	2266	c.1920C>T	c.(1918-1920)CAC>CAT	p.H640H	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	640	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				CCTCAAAGACGTGCTTCCCCA	0.612												
ABCC12	94160	broad.mit.edu	37	16	48180286	48180286	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:48180286C>T	uc002efc.1	-	1	396	c.50G>A	c.(49-51)CGG>CAG	p.R17Q	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.R17Q|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	17						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				GGATCTCCGCCGGCCTCGCTG	0.577												
SIAH1	6477	broad.mit.edu	37	16	48395676	48395676	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:48395676C>T	uc002efo.1	-	2	781	c.664G>A	c.(664-666)GCT>ACT	p.A222T	uc002efk.1_RNA|SIAH1_uc002efl.2_RNA|SIAH1_uc002efn.1_Missense_Mutation_p.A253T	NM_003031	NP_003022	Q8IUQ4	SIAH1_HUMAN	seven in absentia homolog 1 isoform a	222	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				AGTCGGTAAGCAAAATTTTCA	0.433												
C16orf78	123970	broad.mit.edu	37	16	49430514	49430514	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:49430514G>T	uc002efr.2	+	4	618	c.575G>T	c.(574-576)AGC>ATC	p.S192I		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	192										central_nervous_system(1)	1						AAGCTAAAGAGCCTCATGGAG	0.537												
ZNF423	23090	broad.mit.edu	37	16	49672706	49672706	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:49672706G>A	uc002efs.2	-	5	655	c.357C>T	c.(355-357)ATC>ATT	p.I119I	ZNF423_uc010vgn.1_Silent_p.I2I	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	119					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				AACCATCTCCGATCATCTGCG	0.602												
SNX20	124460	broad.mit.edu	37	16	50707432	50707432	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:50707432G>A	uc002egk.2	-	4	1009	c.836C>T	c.(835-837)GCG>GTG	p.A279V	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	279					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						CTTGCCCAGCGCGTAGGCCAG	0.697												
SNX20	124460	broad.mit.edu	37	16	50707935	50707935	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:50707935G>A	uc002egk.2	-	4	506	c.333C>T	c.(331-333)GCC>GCT	p.A111A	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	sorting nexin 20 isoform 1	111	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			ovary(1)	1						GTTCCAGGACGGCCTTGTTGT	0.597												
IRX6	79190	broad.mit.edu	37	16	55362962	55362962	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:55362962G>A	uc002ehy.2	+	5	1605	c.1072G>A	c.(1072-1074)GCG>ACG	p.A358T	IRX6_uc002ehx.2_Missense_Mutation_p.A358T	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	358						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						GGCGCACACCGCGACAGCCAG	0.637												
RSPRY1	89970	broad.mit.edu	37	16	57238591	57238591	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:57238591C>T	uc002elb.2	+	2	299	c.21C>T	c.(19-21)GCC>GCT	p.A7A	RSPRY1_uc002elc.2_Silent_p.A7A|RSPRY1_uc002eld.2_Silent_p.A7A|RSPRY1_uc002ele.1_Silent_p.A7A	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	7						extracellular region	zinc ion binding			ovary(1)	1						TTGGTTGGGCCGTGTTCTTAG	0.463												
COQ9	57017	broad.mit.edu	37	16	57493505	57493505	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:57493505T>C	uc002elq.2	+	7	756	c.740T>C	c.(739-741)CTG>CCG	p.L247P	COQ9_uc002elr.2_Missense_Mutation_p.L212P|COQ9_uc002els.2_Missense_Mutation_p.L40P	NM_020312	NP_064708	O75208	COQ9_HUMAN	coenzyme Q9 homolog precursor	247					ubiquinone biosynthetic process	mitochondrion				breast(1)	1						CGAGCCATGCTGGCTGCCATC	0.537												
CCDC135	84229	broad.mit.edu	37	16	57752348	57752348	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:57752348C>T	uc002emi.2	+	8	1256	c.1167C>T	c.(1165-1167)GAC>GAT	p.D389D	CCDC135_uc002emj.2_Silent_p.D389D|CCDC135_uc002emk.2_Silent_p.D324D	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	389						cytoplasm				central_nervous_system(1)	1						CTGAAGAAGACGACAGTGGGA	0.517												
ZNF319	57567	broad.mit.edu	37	16	58031734	58031734	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:58031734A>G	uc002emx.1	-	2	1059	c.436T>C	c.(436-438)TCA>CCA	p.S146P		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	146	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGTGCCAGTGAGGTGAGTAGT	0.602												
CES2	8824	broad.mit.edu	37	16	66975483	66975483	+	Silent	SNP	C	C	T	rs61735428	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:66975483C>T	uc002eqr.2	+	7	2182	c.1182C>T	c.(1180-1182)GCC>GCT	p.A394A	CES2_uc002eqq.2_Silent_p.A394A|CES2_uc002eqs.2_Silent_p.A237A	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	330					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)		TGGCCTCTGCCGACTTTCAGC	0.587												
CES8	283848	broad.mit.edu	37	16	67034813	67034813	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:67034813C>T	uc002eqv.2	+	4	499	c.456C>T	c.(454-456)TAC>TAT	p.Y152Y	CES8_uc010vix.1_Silent_p.Y152Y|CES8_uc002eqw.2_Silent_p.Y152Y|CES8_uc002eqy.2_Silent_p.Y54Y|CES8_uc002eqx.2_Translation_Start_Site|CES8_uc010viy.1_Silent_p.Y54Y|CES8_uc010viz.1_Silent_p.Y54Y	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	152						extracellular region	carboxylesterase activity				0						CTTCTTCGTACGAGGGCTCTG	0.667												
CES8	283848	broad.mit.edu	37	16	67035233	67035233	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:67035233G>T	uc002eqv.2	+	5	602	c.559G>T	c.(559-561)GGG>TGG	p.G187W	CES8_uc010vix.1_Missense_Mutation_p.G187W|CES8_uc002eqw.2_Missense_Mutation_p.G187W|CES8_uc002eqy.2_Missense_Mutation_p.G89W|CES8_uc002eqx.2_5'UTR|CES8_uc010viy.1_Missense_Mutation_p.G93W|CES8_uc010viz.1_Missense_Mutation_p.G89W	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	187						extracellular region	carboxylesterase activity				0						CCACGCGCGCGGGAACTGGGG	0.697												
LRRC29	26231	broad.mit.edu	37	16	67241525	67241525	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:67241525G>T	uc002esd.2	-	4	1552	c.655C>A	c.(655-657)CTG>ATG	p.L219M	LRRC29_uc002ese.2_Missense_Mutation_p.L219M|LRRC29_uc002esf.2_Missense_Mutation_p.L219M|LRRC29_uc002esg.2_Missense_Mutation_p.L219M	NM_012163	NP_036295	Q8WV35	LRC29_HUMAN	F-box and leucine-rich repeat protein 9	219											0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTTAGGGTCAGGTCAGCCCCT	0.637												
KCTD19	146212	broad.mit.edu	37	16	67323584	67323584	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:67323584A>C	uc002esu.2	-	16	2720	c.2669T>G	c.(2668-2670)CTT>CGT	p.L890R	KCTD19_uc002est.2_Missense_Mutation_p.L662R|KCTD19_uc010vjj.1_Missense_Mutation_p.L633R	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	890						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGGCAGTGTAAGCTGGAAGGA	0.552												
RLTPR	146206	broad.mit.edu	37	16	67688258	67688258	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:67688258C>T	uc002etn.2	+	31	3365	c.3245C>T	c.(3244-3246)GCC>GTC	p.A1082V	RLTPR_uc010vjr.1_Missense_Mutation_p.A1046V	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	1082										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GAGGACCCGGCCACTGAGGGG	0.662												
RANBP10	57610	broad.mit.edu	37	16	67768880	67768880	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:67768880C>T	uc002eud.2	-	6	773	c.657G>A	c.(655-657)CAG>CAA	p.Q219Q	RANBP10_uc010ceo.2_5'UTR|RANBP10_uc010vju.1_Silent_p.Q163Q|RANBP10_uc010vjv.1_Silent_p.Q102Q|RANBP10_uc010vjx.1_Silent_p.Q219Q|RANBP10_uc010vjy.1_Silent_p.Q87Q	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	219	B30.2/SPRY.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGAAGGGCTGCTGCCCAAAGT	0.602												
NRN1L	123904	broad.mit.edu	37	16	67918831	67918831	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:67918831T>C	uc002euu.2	+	1	51	c.25T>C	c.(25-27)TGC>CGC	p.C9R	EDC4_uc002eut.1_3'UTR	NM_198443	NP_940845	Q496H8	NRN1L_HUMAN	neuritin 1-like precursor	9						anchored to membrane|plasma membrane				central_nervous_system(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		CCGCCGCCGCTGCTGCTGCCG	0.721												
DPEP2	64174	broad.mit.edu	37	16	68026858	68026858	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:68026858C>A	uc010cey.2	-	1	422	c.258G>T	c.(256-258)GTG>GTT	p.V86V	DPEP2_uc002evd.3_Silent_p.V86V|DPEP2_uc002eve.2_Silent_p.V86V|DPEP2_uc002evf.2_RNA|DPEP2_uc002evg.2_Silent_p.V86V	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	dipeptidase 2 precursor	86					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CGCACCCGTCCACGAGCGGGA	0.662												
TERF2	7014	broad.mit.edu	37	16	69391422	69391422	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:69391422T>C	uc002exd.2	-	9	1468	c.1343A>G	c.(1342-1344)CAG>CGG	p.Q448R		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	448	HTH myb-type.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				TTAAATTACCTGCTTTTTTGT	0.393												
WWP2	11060	broad.mit.edu	37	16	69965738	69965738	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:69965738C>T	uc002exu.1	+	17	1716	c.1627C>T	c.(1627-1629)CGG>TGG	p.R543W	WWP2_uc002exv.1_Missense_Mutation_p.R543W|WWP2_uc010vlm.1_Missense_Mutation_p.R427W|WWP2_uc010vln.1_Missense_Mutation_p.R161W|WWP2_uc002exw.1_Missense_Mutation_p.R104W|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	543	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6						CCTGCGCCGCCGGCTCTACAT	0.647												
AARS	16	broad.mit.edu	37	16	70293086	70293086	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:70293086G>T	uc002eyn.1	-	14	1899	c.1789C>A	c.(1789-1791)CGA>AGA	p.R597R	AARS_uc010vlu.1_Silent_p.R427R	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	597					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GGTCTTCGTCGGGGCTGGAAA	0.398												
MARVELD3	91862	broad.mit.edu	37	16	71674501	71674501	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:71674501C>T	uc002fau.2	+	3	867	c.804C>T	c.(802-804)TAC>TAT	p.Y268Y	PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				skin(1)	1		Ovarian(137;0.125)				CCCTGATATACGGTGGCGTGG	0.567												
ZFHX3	463	broad.mit.edu	37	16	72821094	72821094	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:72821094G>A	uc002fck.2	-	10	11754	c.11081C>T	c.(11080-11082)ACC>ATC	p.T3694I	uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Missense_Mutation_p.T2780I	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3694					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)				TCCTACACTGGTCAGACCACT	0.463												
ATMIN	23300	broad.mit.edu	37	16	81075980	81075980	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:81075980A>G	uc002ffz.1	+	3	575	c.557A>G	c.(556-558)GAC>GGC	p.D186G	ATMIN_uc002fga.2_Missense_Mutation_p.D28G|ATMIN_uc010vnn.1_Intron|ATMIN_uc002fgb.1_Missense_Mutation_p.D28G	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	186					response to DNA damage stimulus	nucleus	zinc ion binding				0						CATGCAGAGGACTGTGGCAAG	0.498												
CMIP	80790	broad.mit.edu	37	16	81735407	81735407	+	Splice_Site	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:81735407T>C	uc002fgp.2	+	16	1968	c.1896_splice	c.e16+2	p.L632_splice	CMIP_uc002fgq.1_Splice_Site_p.L538_splice|CMIP_uc010vnq.1_Splice_Site_p.L445_splice|CMIP_uc002fgr.1_Splice_Site_p.L479_splice	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip							cytoplasm|nucleus					0						AAGGAGCTGGTGAGTCCCCGG	0.652												
KLHL36	79786	broad.mit.edu	37	16	84690621	84690621	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:84690621T>C	uc002fig.2	+	3	349	c.208T>C	c.(208-210)TAC>CAC	p.Y70H	KLHL36_uc010chl.2_Missense_Mutation_p.Y69H	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	70	BTB.									skin(2)	2						GTGCAGCGACTACTTCAACTC	0.622												
ZCCHC14	23174	broad.mit.edu	37	16	87451111	87451111	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:87451111A>G	uc002fjz.1	-	8	954	c.927T>C	c.(925-927)CGT>CGC	p.R309R	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Silent_p.R85R	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	309					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ACTTGTGCAAACGCAGTTTCC	0.507											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SNAI3	333929	broad.mit.edu	37	16	88744893	88744893	+	Missense_Mutation	SNP	G	G	A	rs147688628		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:88744893G>A	uc002flj.2	-	3	910	c.842C>T	c.(841-843)GCG>GTG	p.A281V	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	281	C2H2-type 5; degenerate.				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		CTCATGCCGCGCCAGGAGGGA	0.677												
CDT1	81620	broad.mit.edu	37	16	88873791	88873791	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:88873791G>A	uc002flu.2	+	9	1432	c.1378G>A	c.(1378-1380)GTG>ATG	p.V460M		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	460					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		GCTGGCCCGCGTGCTGCGGAG	0.652												
RPH3AL	9501	broad.mit.edu	37	17	63666	63666	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:63666C>T	uc002frd.1	-	8	969	c.925G>A	c.(925-927)GGC>AGC	p.G309S	RPH3AL_uc010vpy.1_3'UTR|RPH3AL_uc002fre.1_Missense_Mutation_p.G309S|RPH3AL_uc002frf.1_Missense_Mutation_p.G280S|RPH3AL_uc010cjl.1_Missense_Mutation_p.G280S	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	309					exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTGGAGGGGCCTGCTGGAGCT	0.637												
NXN	64359	broad.mit.edu	37	17	704255	704255	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:704255G>A	uc002fsa.2	-	8	1334	c.1242C>T	c.(1240-1242)ACC>ACT	p.T414T	NXN_uc010vqd.1_Silent_p.T105T|NXN_uc002frz.2_Silent_p.T165T|NXN_uc010vqe.1_Silent_p.T306T	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	414					cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CGATGGCGGGGGTGATCTCCT	0.577												
SCARF1	8578	broad.mit.edu	37	17	1538704	1538704	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:1538704C>T	uc002fsz.1	-	11	1891	c.1841G>A	c.(1840-1842)CGA>CAA	p.R614Q	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R528Q	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	614	Pro/Ser-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTTGGGCTTTCGGAGCGGGCT	0.662												
SCARF1	8578	broad.mit.edu	37	17	1543228	1543228	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:1543228T>C	uc002fsz.1	-	6	1167	c.1117A>G	c.(1117-1119)AGT>GGT	p.S373G	SCARF1_uc002fsy.1_Missense_Mutation_p.S373G|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Intron	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	373	Extracellular (Potential).|EGF-like 6.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TAGCCGGCACTGCAGACACAG	0.632												
RPA1	6117	broad.mit.edu	37	17	1798335	1798335	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:1798335T>C	uc002fto.2	+	16	1807	c.1692T>C	c.(1690-1692)AAT>AAC	p.N564N		NM_002945	NP_002936	P27694	RFA1_HUMAN	replication protein A1	564					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding				0						TTTTCCAGAATGCCAACTTCC	0.443								NER				
DPH1	1801	broad.mit.edu	37	17	1944878	1944878	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:1944878G>A	uc002fts.2	+	11	1223	c.1205G>A	c.(1204-1206)CGC>CAC	p.R402H	DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Missense_Mutation_p.R386H|DPH1_uc010cjx.2_Missense_Mutation_p.R262H|DPH1_uc010vqs.1_Missense_Mutation_p.R412H|DPH1_uc002ftu.2_Missense_Mutation_p.R158H|DPH1_uc002ftv.2_Missense_Mutation_p.R158H|DPH1_uc002ftw.2_Missense_Mutation_p.R130H|OVCA2_uc002ftx.2_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	diptheria toxin resistance protein required for	402					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				pancreas(1)	1						GGCCAGGACCGCCGTCCCCAc	0.612												
SGSM2	9905	broad.mit.edu	37	17	2265420	2265420	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:2265420G>A	uc002fun.3	+	4	489	c.314G>A	c.(313-315)AGC>AAC	p.S105N	SGSM2_uc002fum.3_Missense_Mutation_p.S105N|SGSM2_uc010vqw.1_Missense_Mutation_p.S105N	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	105	RUN.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TCAGGGGTCAGCCAGGAGGCC	0.652												
PAFAH1B1	5048	broad.mit.edu	37	17	2583573	2583573	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:2583573T>C	uc002fuw.3	+	10	1686	c.1118T>C	c.(1117-1119)ATG>ACG	p.M373T	PAFAH1B1_uc010ckb.1_Intron|PAFAH1B1_uc010vqz.1_Missense_Mutation_p.M168T	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	373	Interaction with dynein and dynactin.|Interaction with DCX.|WD 6.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1						AAGCGATGCATGAAGACCCTC	0.473												
ATP2A3	489	broad.mit.edu	37	17	3854680	3854680	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:3854680G>A	uc002fxb.1	-	5	479	c.328C>T	c.(328-330)CGC>TGC	p.R110C	ATP2A3_uc002fwx.1_Missense_Mutation_p.R110C|ATP2A3_uc002fwy.1_Missense_Mutation_p.R110C|ATP2A3_uc002fwz.1_Missense_Mutation_p.R110C|ATP2A3_uc002fxa.1_Missense_Mutation_p.R110C|ATP2A3_uc002fxc.1_Missense_Mutation_p.R110C|ATP2A3_uc002fxd.1_Missense_Mutation_p.R110C	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	110	Helical; Name=2; (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TCGGCGTTGCGTTCCTGCAGA	0.652												
ZZEF1	23140	broad.mit.edu	37	17	3992073	3992073	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:3992073C>T	uc002fxe.2	-	13	2204	c.2140G>A	c.(2140-2142)GTC>ATC	p.V714I	ZZEF1_uc002fxk.1_Missense_Mutation_p.V714I	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	714							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCACAGGTGACGCTCTGTTCT	0.587												
ZZEF1	23140	broad.mit.edu	37	17	3992159	3992159	+	Missense_Mutation	SNP	C	C	T	rs80233645	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:3992159C>T	uc002fxe.2	-	13	2118	c.2054G>A	c.(2053-2055)CGT>CAT	p.R685H	ZZEF1_uc002fxk.1_Missense_Mutation_p.R685H	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	685							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGACTCCTGACGGGTGCAGAG	0.502												
MINK1	50488	broad.mit.edu	37	17	4796056	4796056	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:4796056C>T	uc010vsl.1	+	19	2500	c.2304C>T	c.(2302-2304)CGC>CGT	p.R768R	MINK1_uc010vsk.1_Silent_p.R731R|MINK1_uc010vsm.1_Silent_p.R748R|MINK1_uc010vsn.1_Silent_p.R731R|MINK1_uc010vso.1_Silent_p.R676R|MINK1_uc010vsp.1_Silent_p.R221R	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	768					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						AGCGGAACCGCGTGGGAGGTA	0.677												
USP6	9098	broad.mit.edu	37	17	5042837	5042837	+	Missense_Mutation	SNP	C	C	T	rs61745111	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:5042837C>T	uc002gau.1	+	22	3596	c.1366C>T	c.(1366-1368)CGG>TGG	p.R456W	USP6_uc002gav.1_Missense_Mutation_p.R456W|USP6_uc010ckz.1_Missense_Mutation_p.R139W|uc002gbd.2_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	456					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R456W(1)		skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						GTCAATGCCCCGGCTCCCAAC	0.612			T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts							
KIAA0753	9851	broad.mit.edu	37	17	6493254	6493254	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:6493254G>A	uc002gde.3	-	18	2990	c.2631C>T	c.(2629-2631)GCC>GCT	p.A877A	KIAA0753_uc010vtd.1_Silent_p.A333A|KIAA0753_uc010clo.2_Silent_p.A578A|KIAA0753_uc010vte.1_Silent_p.A578A	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	877						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		GAGAATCTTCGGCTAGGGAGA	0.488												
FBXO39	162517	broad.mit.edu	37	17	6690225	6690225	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:6690225C>T	uc010vtg.1	+	3	1270	c.1150C>T	c.(1150-1152)CGG>TGG	p.R384W	FBXO39_uc010cls.1_RNA	NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	F-box protein 39	384										ovary(1)|skin(1)	2						TTTTGTGGAGCGGATCCTGAA	0.522												
C17orf74	201243	broad.mit.edu	37	17	7329861	7329861	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:7329861A>G	uc002ggw.2	+	3	624	c.551A>G	c.(550-552)TAC>TGC	p.Y184C	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	184						integral to membrane					0		Prostate(122;0.157)				CCGGATTCCTACCTGGAGGAG	0.582												
TRAPPC1	58485	broad.mit.edu	37	17	7835194	7835194	+	Translation_Start_Site	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:7835194C>A	uc002gjo.1	-	1	70	c.-46G>T	c.(-48--44)AAGGA>AATGA		KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|CNTROB_uc002gjp.2_5'Flank|CNTROB_uc002gjq.2_5'Flank|CNTROB_uc002gjr.2_5'Flank	NM_021210	NP_067033	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1						ER to Golgi vesicle-mediated transport	endoplasmic reticulum					0		Prostate(122;0.173)				GCCCCCACTCCTTGGGCTCGG	0.637												
ARHGEF15	22899	broad.mit.edu	37	17	8219438	8219438	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:8219438G>A	uc002glc.2	+	9	1797	c.1676G>A	c.(1675-1677)CGC>CAC	p.R559H	ARHGEF15_uc002gld.2_Missense_Mutation_p.R559H|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R448H	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	559	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CCCTTCCAGCGCATCACCCGG	0.672												
MYH3	4621	broad.mit.edu	37	17	10549160	10549160	+	Silent	SNP	G	G	A	rs142547724	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:10549160G>A	uc002gmq.1	-	11	1082	c.1005C>T	c.(1003-1005)AGC>AGT	p.S335S		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	335	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TGTCAATGGCGCTCTGGCATG	0.562											OREG0024181	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DNAH9	1770	broad.mit.edu	37	17	11827202	11827202	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:11827202G>A	uc002gne.2	+	62	11889	c.11821G>A	c.(11821-11823)GTG>ATG	p.V3941M	DNAH9_uc010coo.2_Missense_Mutation_p.V3235M|DNAH9_uc002gnf.2_Missense_Mutation_p.V253M|DNAH9_uc010vvh.1_Missense_Mutation_p.V294M	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3941	AAA 6 (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			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		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)		ACAGGAAGTGGTGGCTGAGGC	0.478												
RAI1	10743	broad.mit.edu	37	17	17700893	17700893	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:17700893G>A	uc002grm.2	+	3	5100	c.4631G>A	c.(4630-4632)CGG>CAG	p.R1544Q	RAI1_uc002grn.1_Missense_Mutation_p.R1544Q	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1544						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		ACTCGGGGCCGGGCCAAGAAC	0.652												
RAI1	10743	broad.mit.edu	37	17	17707165	17707165	+	Splice_Site	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:17707165T>C	uc002grm.2	+	4	6128	c.5659_splice	c.e4+2	p.G1887_splice		NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1							cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCGATGCAGGTACGAGCCCGC	0.632												
CYTSB	92521	broad.mit.edu	37	17	20149335	20149335	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:20149335G>A	uc002gwq.2	+	8	2593	c.2448G>A	c.(2446-2448)TCG>TCA	p.S816S	CYTSB_uc002gws.2_Silent_p.S816S|CYTSB_uc002gwv.2_Silent_p.S735S|CYTSB_uc010vzf.1_Silent_p.S156S|CYTSB_uc002gww.2_Silent_p.S592S	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	816						nucleus					0						CCCCAGAGTCGGCAACCACCG	0.493												
TMEM97	27346	broad.mit.edu	37	17	26653775	26653775	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:26653775C>T	uc002hat.2	+	3	632	c.487C>T	c.(487-489)CGG>TGG	p.R163W		NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	163	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding				0	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TTTCATGTTGCGGAGCCCCTA	0.438												
VTN	7448	broad.mit.edu	37	17	26696686	26696686	+	Missense_Mutation	SNP	G	G	A	rs144093348		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:26696686G>A	uc002hbc.2	-	3	520	c.371C>T	c.(370-372)GCG>GTG	p.A124V	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	124					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CACCTCAGGCGCAGGGGCCTC	0.627												
UNC119	9094	broad.mit.edu	37	17	26875065	26875065	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:26875065C>T	uc002hbk.2	-	3	460	c.389G>A	c.(388-390)CGC>CAC	p.R130H	UNC119_uc002hbm.2_Missense_Mutation_p.R130H|UNC119_uc002hbl.1_5'Flank	NM_005148	NP_005139	Q13432	U119A_HUMAN	unc119 (C.elegans) homolog isoform a	130					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction					0	Lung NSC(42;0.00431)					GAACTGGTAGCGGACAAAGCG	0.542											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYO18A	399687	broad.mit.edu	37	17	27448659	27448659	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:27448659C>T	uc002hdt.1	-	5	1435	c.1277G>A	c.(1276-1278)CGC>CAC	p.R426H	MYO18A_uc010wbc.1_5'UTR|MYO18A_uc002hds.2_5'UTR|MYO18A_uc010csa.1_Missense_Mutation_p.R426H|MYO18A_uc002hdu.1_Missense_Mutation_p.R426H|MYO18A_uc010wbd.1_Missense_Mutation_p.R95H	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	426	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ATAGCGCTGGCGCAAGGTGTG	0.637												
TP53I13	90313	broad.mit.edu	37	17	27898873	27898873	+	Splice_Site	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:27898873A>G	uc002hee.2	+	5	351	c.313_splice	c.e5-2	p.P105_splice		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13							cytoplasm|integral to membrane|plasma membrane					0				READ - Rectum adenocarcinoma(3;0.236)		CTCCTCTCGTAGCCCCTGGTG	0.602												
CPD	1362	broad.mit.edu	37	17	28712232	28712232	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:28712232C>T	uc002hfb.1	+	2	987	c.972C>T	c.(970-972)GGC>GGT	p.G324G	CPD_uc010wbo.1_Silent_p.G77G|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	324	Extracellular (Potential).|Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						TCACAAACGGCGCACATTGGT	0.408												
UTP6	55813	broad.mit.edu	37	17	30192396	30192396	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:30192396G>A	uc002hgr.2	-	18	1708	c.1625C>T	c.(1624-1626)TCC>TTC	p.S542F	UTP6_uc002hgq.2_Missense_Mutation_p.S358F|UTP6_uc010cst.2_Missense_Mutation_p.S391F	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	hepatocellular carcinoma-associated antigen 66	542	HAT 5.				rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGAATCTGCGGATCCAAACTC	0.303												
UNC45B	146862	broad.mit.edu	37	17	33513405	33513405	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:33513405C>A	uc002hja.2	+	20	2720	c.2623C>A	c.(2623-2625)CTA>ATA	p.L875I	UNC45B_uc002hjb.2_Missense_Mutation_p.L873I|UNC45B_uc002hjc.2_Missense_Mutation_p.L873I|UNC45B_uc010cto.2_Missense_Mutation_p.L794I	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	875					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				TGCCTACAACCTACTGGCAGC	0.597												
AMAC1	146861	broad.mit.edu	37	17	33520761	33520761	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:33520761G>C	uc002hjd.2	-	1	652	c.566C>G	c.(565-567)ACC>AGC	p.T189S		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	189	Helical; (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		GCCCAGGGCGGTGTAGACACC	0.597												
SLFN11	91607	broad.mit.edu	37	17	33689952	33689952	+	Missense_Mutation	SNP	G	G	A	rs142137401		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:33689952G>A	uc010ctp.2	-	4	1317	c.875C>T	c.(874-876)CCG>CTG	p.P292L	SLFN11_uc010ctq.2_Missense_Mutation_p.P292L|SLFN11_uc002hjh.3_Missense_Mutation_p.P292L|SLFN11_uc002hjg.3_Missense_Mutation_p.P292L|SLFN11_uc010ctr.2_Missense_Mutation_p.P292L	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	292						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAGGTTATCGGGCGTTGGGG	0.418												
PIGW	284098	broad.mit.edu	37	17	34893363	34893363	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:34893363C>T	uc002hmy.1	+	2	456	c.413C>T	c.(412-414)GCG>GTG	p.A138V	MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Missense_Mutation_p.A138V	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan, class W	138	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTACCAGTGCGTTTACTGCT	0.418												
GGNBP2	79893	broad.mit.edu	37	17	34942390	34942390	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:34942390A>G	uc002hnb.2	+	11	1736	c.1487A>G	c.(1486-1488)GAA>GGA	p.E496G	GGNBP2_uc002hna.2_3'UTR|GGNBP2_uc002hnc.1_Missense_Mutation_p.E325G	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	496					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AATCATGATGAACACGGTAGG	0.418												
NEUROD2	4761	broad.mit.edu	37	17	37761804	37761804	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:37761804C>T	uc002hry.2	-	2	1249	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H		NM_006160	NP_006151	Q15784	NDF2_HUMAN	neurogenic differentiation 2	350					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			GACGCCCCCGCGCACAGCCGA	0.602												
KRT38	8687	broad.mit.edu	37	17	39594763	39594763	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:39594763G>A	uc002hwq.1	-	5	1423	c.1000C>T	c.(1000-1002)CGC>TGC	p.R334C		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	334	Coil 2.|Rod.					intermediate filament	structural molecule activity			skin(2)	2		Breast(137;0.000496)				TGGGCTTGGCGCTCCACCTCC	0.577												
KRT32	3882	broad.mit.edu	37	17	39623442	39623442	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:39623442A>G	uc002hwr.2	-	1	197	c.136T>C	c.(136-138)TGC>CGC	p.C46R		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	46	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				GAAGGCAGGCATGCCATGGGC	0.652												
KRT36	8689	broad.mit.edu	37	17	39643875	39643875	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:39643875G>T	uc002hwt.2	-	4	814	c.814C>A	c.(814-816)CTG>ATG	p.L272M		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	272	Rod.|Coil 2.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)				TTCTCCACCAGGGCCTCGTAC	0.612												
ATP6V0A1	535	broad.mit.edu	37	17	40660596	40660596	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:40660596G>A	uc002hzr.2	+	19	2286	c.2119G>A	c.(2119-2121)GAG>AAG	p.E707K	ATP6V0A1_uc002hzq.2_Intron|ATP6V0A1_uc002hzs.2_Intron|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.E664K|ATP6V0A1_uc010wgk.1_Intron|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.E353K|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.E566K|ATP6V0A1_uc002hzt.2_Intron	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	707	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CAAGCCTTCCGAGGACGAAGT	0.517												
CNTNAP1	8506	broad.mit.edu	37	17	40845418	40845418	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:40845418T>C	uc002iay.2	+	18	3072	c.2856T>C	c.(2854-2856)GGT>GGC	p.G952G	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	952	Laminin G-like 3.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCTCTGAGGGTACCTCACCCA	0.607												
WNK4	65266	broad.mit.edu	37	17	40948206	40948206	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:40948206G>A	uc002ibj.2	+	17	3518	c.3497G>A	c.(3496-3498)CGG>CAG	p.R1166Q	WNK4_uc010wgx.1_Missense_Mutation_p.R830Q|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1166					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTGTACAGCCGGCTGGGGAAG	0.597												
DHX8	1659	broad.mit.edu	37	17	41570258	41570258	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:41570258G>A	uc002idu.1	+	6	786	c.713G>A	c.(712-714)CGG>CAG	p.R238Q	DHX8_uc010wif.1_Missense_Mutation_p.R147Q|DHX8_uc010wig.1_Missense_Mutation_p.R238Q	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	238						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CGGAAGGACCGGGACAAATAT	0.537												
PPY	5539	broad.mit.edu	37	17	42018946	42018946	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:42018946C>T	uc002iep.2	-	2	122	c.77G>A	c.(76-78)GGT>GAT	p.G26D		NM_002722	NP_002713	P01298	PAHO_HUMAN	pancreatic polypeptide preproprotein	26					digestion|protein secretion	extracellular region	hormone activity				0		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCCTGGGCACCCAGCAGTGG	0.612												
GPATCH8	23131	broad.mit.edu	37	17	42512489	42512489	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:42512489G>A	uc002igw.1	-	5	356	c.292C>T	c.(292-294)CGC>TGC	p.R98C	GPATCH8_uc002igv.1_Missense_Mutation_p.R20C|GPATCH8_uc010wiz.1_Missense_Mutation_p.R20C	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	98	Potential.					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)		AGGACACGGCGCCGTTCGGTA	0.383												
FMNL1	752	broad.mit.edu	37	17	43311489	43311489	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:43311489A>G	uc002iin.2	+	6	736	c.536A>G	c.(535-537)AAG>AGG	p.K179R	FMNL1_uc002iio.2_Missense_Mutation_p.K124R	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	179	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GAGAAAAACAAGCCCCTGGAG	0.587												
PLEKHM1	9842	broad.mit.edu	37	17	43552823	43552823	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:43552823G>A	uc002ija.2	-	4	736	c.566C>T	c.(565-567)ACG>ATG	p.T189M	PLEKHM1_uc010wjm.1_Missense_Mutation_p.T161M|PLEKHM1_uc002ijb.2_Translation_Start_Site|PLEKHM1_uc010wjn.1_Missense_Mutation_p.T138M|hsa-mir-4315-1|MI0015844_5'Flank	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	189					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					TGGGGTGAGCGTCCACTCATT	0.567												
MAPT	4137	broad.mit.edu	37	17	44101483	44101483	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:44101483G>A	uc002ijr.3	+	14	2543	c.2223G>A	c.(2221-2223)CAG>CAA	p.Q741Q	MAPT_uc010dau.2_Silent_p.Q759Q|MAPT_uc002ijs.3_Silent_p.Q424Q|MAPT_uc002ijx.3_Silent_p.Q395Q|MAPT_uc002ijt.3_Silent_p.Q366Q|MAPT_uc002iju.3_Silent_p.Q335Q|MAPT_uc002ijv.3_Silent_p.Q342Q	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	741					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				ACTCGCCCCAGCTCGCCACGC	0.592												
C17orf57	124989	broad.mit.edu	37	17	45421629	45421629	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:45421629A>G	uc002iln.2	+	7	816	c.405A>G	c.(403-405)TCA>TCG	p.S135S	ITGB3_uc010wkr.1_RNA|C17orf57_uc002ilm.2_Silent_p.S135S|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Silent_p.S135S	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	135							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						AGACTTCATCACCTCTTTGTA	0.383												
MRPL10	124995	broad.mit.edu	37	17	45904455	45904455	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:45904455C>T	uc002ilz.2	-	3	364	c.338G>A	c.(337-339)CGA>CAA	p.R113Q	MRPL10_uc010wky.1_Missense_Mutation_p.R74Q|MRPL10_uc002ily.2_Missense_Mutation_p.R123Q	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10 precursor	113					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			ovary(1)	1						CAGCTGGTGTCGCATAAGAAG	0.577												
SKAP1	8631	broad.mit.edu	37	17	46257474	46257474	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:46257474C>A	uc002ini.1	-	9	880	c.768G>T	c.(766-768)GTG>GTT	p.V256V	SKAP1_uc002inj.1_Silent_p.V256V|SKAP1_uc010dbd.1_Silent_p.V162V|SKAP1_uc010dbe.1_Silent_p.V256V	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1 isoform	256					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding				0						CTTTTATCCCCACACTCCCAG	0.373												
COL1A1	1277	broad.mit.edu	37	17	48267440	48267440	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:48267440G>A	uc002iqm.2	-	36	2607	c.2481C>T	c.(2479-2481)GGC>GGT	p.G827G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	827	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	CACCAGGTTCGCCTTTAGCAC	0.652			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta					
MYCBPAP	84073	broad.mit.edu	37	17	48603286	48603286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:48603286G>A	uc010wmr.1	+	14	2118	c.1956G>A	c.(1954-1956)TGG>TGA	p.W652*	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	615					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			ACCAACTGTGGCGCCAGTACA	0.592												
HLF	3131	broad.mit.edu	37	17	53342893	53342893	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:53342893G>A	uc002iug.1	+	1	573	c.48G>A	c.(46-48)CCG>CCA	p.P16P	HLF_uc010dce.1_5'Flank|HLF_uc002iuh.2_5'Flank|HLF_uc010wni.1_5'Flank	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	16					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						CCTTTATCCCGCCTCCCTACG	0.572			T	TCF3	ALL							
SCPEP1	59342	broad.mit.edu	37	17	55058503	55058503	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:55058503G>A	uc002iuv.3	+	2	190	c.137G>A	c.(136-138)CGC>CAC	p.R46H	SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_5'UTR	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1 precursor	46					proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)					GTGACGGTCCGCAAGGATGCC	0.498												
MKS1	54903	broad.mit.edu	37	17	56288385	56288385	+	Splice_Site	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:56288385T>C	uc002ivr.1	-	10	991	c.916_splice	c.e10-1	p.T306_splice	MKS1_uc010wnq.1_Splice_Site_p.T103_splice|MKS1_uc002ivs.1_Splice_Site_p.T306_splice	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Meckel syndrome type 1 protein isoform 1						cilium assembly	centrosome|cilium|microtubule basal body	protein binding			ovary(1)	1						TGGGACAGTCTAAGGTGAAGA	0.537												
C17orf71	55181	broad.mit.edu	37	17	57290863	57290863	+	Silent	SNP	A	A	G	rs140931963		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:57290863A>G	uc002ixi.2	+	3	2721	c.2679A>G	c.(2677-2679)TCA>TCG	p.S893S		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	893					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATATTCTGTCATCCTCTCAAG	0.428												
DHX40	79665	broad.mit.edu	37	17	57654713	57654713	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:57654713A>T	uc002ixn.1	+	8	1207	c.1060A>T	c.(1060-1062)ATA>TTA	p.I354L	DHX40_uc010woe.1_Missense_Mutation_p.I277L|DHX40_uc002ixo.1_Missense_Mutation_p.I255L	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	354	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTCTTTGACAATAGATGGAAT	0.353												
LRRC37A3	374819	broad.mit.edu	37	17	62856347	62856347	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:62856347C>T	uc002jey.2	-	11	4448	c.3917G>A	c.(3916-3918)CGC>CAC	p.R1306H	LRRC37A3_uc010wqg.1_Missense_Mutation_p.R424H|LRRC37A3_uc002jex.1_Missense_Mutation_p.R283H|LRRC37A3_uc010wqf.1_Missense_Mutation_p.R344H|LRRC37A3_uc010dek.1_Missense_Mutation_p.R312H	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1306	Extracellular (Potential).					integral to membrane					0						TTTGTGAAAGCGGTATTTTTT	0.403												
CACNG1	786	broad.mit.edu	37	17	65050148	65050148	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:65050148G>A	uc002jfu.2	+	2	337	c.266G>A	c.(265-267)GGC>GAC	p.G89D		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	89					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	TTTAACCCCGGCGAGAGCTCG	0.557												
BPTF	2186	broad.mit.edu	37	17	65900946	65900946	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:65900946G>A	uc002jgf.2	+	9	2863	c.2802G>A	c.(2800-2802)TCG>TCA	p.S934S	BPTF_uc002jge.2_Silent_p.S1060S|BPTF_uc010wqm.1_Silent_p.S997S	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1060					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACAGAAAGTCGTTAGAAGGAA	0.303												
ABCA10	10349	broad.mit.edu	37	17	67178331	67178331	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:67178331G>A	uc010dfa.1	-	23	3611	c.2732C>T	c.(2731-2733)ACG>ATG	p.T911M	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.T512M	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	911					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					AATAAGCTCCGTGAAGTTAAA	0.294												
KCNJ2	3759	broad.mit.edu	37	17	68171276	68171276	+	Silent	SNP	C	C	T	rs67120636	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:68171276C>T	uc010dfg.2	+	2	497	c.96C>T	c.(94-96)AAC>AAT	p.N32N	KCNJ2_uc002jir.2_Silent_p.N32N	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	32	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					GCTTTGGGAACGGGAAGAGTA	0.517												
FDXR	2232	broad.mit.edu	37	17	72860081	72860081	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:72860081C>T	uc002jly.2	-	10	1198	c.1111G>A	c.(1111-1113)GTG>ATG	p.V371M	FDXR_uc010wri.1_Missense_Mutation_p.V319M|FDXR_uc010wrj.1_Missense_Mutation_p.V369M|FDXR_uc002jlw.2_Missense_Mutation_p.V128M|FDXR_uc002jlx.2_Missense_Mutation_p.V377M|FDXR_uc002jmc.2_Missense_Mutation_p.V343M|FDXR_uc010wrk.1_Missense_Mutation_p.V402M|FDXR_uc010wrl.1_Missense_Mutation_p.V414M|FDXR_uc002jma.2_Missense_Mutation_p.V372M|FDXR_uc010wrm.1_Missense_Mutation_p.V331M|FDXR_uc002jlz.2_Missense_Mutation_p.V363M|FDXR_uc002jmb.2_Intron	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	371					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					TCAAAGGGCACGCTTGGGTCG	0.607												
OTOP2	92736	broad.mit.edu	37	17	72926394	72926394	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:72926394G>A	uc010wrp.1	+	7	753	c.664G>A	c.(664-666)GGA>AGA	p.G222R		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	222						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					CAACCCGGTCGGAGGAGACTC	0.572												
C17orf28	283987	broad.mit.edu	37	17	72951939	72951939	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:72951939C>T	uc002jmj.3	-	13	1733	c.1584G>A	c.(1582-1584)CTG>CTA	p.L528L	C17orf28_uc002jmi.2_5'Flank|C17orf28_uc010wrs.1_Silent_p.L327L	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	528						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					GGAAGAAGACCAGGTGGTGGT	0.592												
CDR2L	30850	broad.mit.edu	37	17	72998316	72998316	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:72998316A>G	uc002jml.3	+	4	911	c.499A>G	c.(499-501)AGC>GGC	p.S167G		NM_014603	NP_055418	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	167											0	all_lung(278;0.226)					GCTGTGCACCAGCCCCCGGTA	0.627												
CASKIN2	57513	broad.mit.edu	37	17	73501711	73501711	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:73501711A>G	uc002joc.2	-	10	1407	c.857T>C	c.(856-858)GTC>GCC	p.V286A	CASKIN2_uc010wsc.1_Missense_Mutation_p.V204A|CASKIN2_uc002jod.2_Missense_Mutation_p.V286A	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	286	SH3.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCGCTCGGACCTTCAGGAT	0.582												
ITGB4	3691	broad.mit.edu	37	17	73728020	73728020	+	Missense_Mutation	SNP	C	C	T	rs144804175		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:73728020C>T	uc002jpg.2	+	11	1530	c.1343C>T	c.(1342-1344)GCG>GTG	p.A448V	ITGB4_uc002jph.2_Missense_Mutation_p.A448V|ITGB4_uc010dgo.2_Missense_Mutation_p.A448V|ITGB4_uc002jpi.3_Missense_Mutation_p.A448V|ITGB4_uc010dgp.1_Missense_Mutation_p.A448V|ITGB4_uc002jpj.2_Missense_Mutation_p.A448V|ITGB4_uc010wsh.1_Missense_Mutation_p.A3V	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	448	Extracellular (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGATGGACGCGGGCATCATC	0.627												
UNK	85451	broad.mit.edu	37	17	73805997	73805997	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:73805997C>T	uc002jpm.2	+	3	489	c.489C>T	c.(487-489)GAC>GAT	p.D163D		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	87	C3H1-type 1.						nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACAGCCCTGACGTCTACTGCA	0.652												
EXOC7	23265	broad.mit.edu	37	17	74079765	74079765	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:74079765G>A	uc002jqs.2	-	20	2267	c.2172C>T	c.(2170-2172)GGC>GGT	p.G724G	EXOC7_uc002jqp.1_Missense_Mutation_p.A186V|EXOC7_uc010dgv.1_Silent_p.G598G|EXOC7_uc002jqq.2_Silent_p.G673G|EXOC7_uc010wsw.1_Silent_p.G696G|EXOC7_uc010wsx.1_Silent_p.G665G|EXOC7_uc002jqr.2_Silent_p.G642G|EXOC7_uc010wsv.1_Silent_p.G645G	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	724					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			CGATCATGTCGCCCACCTGCT	0.587												
CBX2	84733	broad.mit.edu	37	17	77757794	77757794	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:77757794G>T	uc002jxc.2	+	5	594	c.552G>T	c.(550-552)AAG>AAT	p.K184N		NM_005189	NP_005180	Q14781	CBX2_HUMAN	chromobox homolog 2 isoform 1	184					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCTGGCCAAGGTGCTGAAGA	0.677												
CCDC40	55036	broad.mit.edu	37	17	78039298	78039298	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:78039298C>T	uc010dht.2	+	10	1482	c.1455C>T	c.(1453-1455)ATC>ATT	p.I485I	CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Silent_p.I268I	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	485					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCACCGAGATCGACGCCATCA	0.622												
CCDC40	55036	broad.mit.edu	37	17	78063670	78063670	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:78063670T>C	uc010dht.2	+	17	2846	c.2819T>C	c.(2818-2820)ATC>ACC	p.I940T	CCDC40_uc002jxm.3_Missense_Mutation_p.I723T|CCDC40_uc002jxn.3_Missense_Mutation_p.I336T	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	940	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGGCGAGATCCACAGGATG	0.597												
RNF213	57674	broad.mit.edu	37	17	78346440	78346440	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:78346440C>T	uc002jyh.1	+	23	7099	c.6876C>T	c.(6874-6876)AAC>AAT	p.N2292N	uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.N674N	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_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)			AGCCTGCCAACGAGGCCTCGG	0.577												
RNF213	57674	broad.mit.edu	37	17	78346893	78346893	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:78346893G>C	uc002jyh.1	+	24	7312	c.7089G>C	c.(7087-7089)GAG>GAC	p.E2363D	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.E745D	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)			GGGGGATGGAGTTCGTGCAGG	0.637												
NPTX1	4884	broad.mit.edu	37	17	78449519	78449519	+	Splice_Site	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:78449519C>T	uc002jyp.1	-	2	603	c.445_splice	c.e2-1	p.Q149_splice		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	neuronal pentraxin I precursor						central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding				0	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GGCTGTACTGCTGCGGGGTGC	0.682												
BAIAP2	10458	broad.mit.edu	37	17	79077743	79077743	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:79077743G>A	uc002jzg.2	+	9	1009	c.901G>A	c.(901-903)GGC>AGC	p.G301S	BAIAP2_uc002jyz.3_Missense_Mutation_p.G301S|BAIAP2_uc002jza.2_Missense_Mutation_p.G301S|BAIAP2_uc002jzc.2_Missense_Mutation_p.G301S|BAIAP2_uc002jzb.2_Missense_Mutation_p.G58S|BAIAP2_uc002jzd.2_Missense_Mutation_p.G301S|BAIAP2_uc002jzf.2_Missense_Mutation_p.G301S|BAIAP2_uc002jze.2_Missense_Mutation_p.G334S|BAIAP2_uc010wuh.1_Missense_Mutation_p.G223S|BAIAP2_uc002jzh.2_Missense_Mutation_p.G302S|BAIAP2_uc010wui.1_Missense_Mutation_p.G164S	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	301					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CATCATGAACGGCGTCACAGG	0.652												
ASPSCR1	79058	broad.mit.edu	37	17	79954320	79954320	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:79954320C>T	uc002kcx.2	+	7	628	c.531C>T	c.(529-531)CCC>CCT	p.P177P	ASPSCR1_uc002kcw.1_Silent_p.P177P|ASPSCR1_uc002kcy.2_Silent_p.P177P|ASPSCR1_uc002kcz.2_Intron|ASPSCR1_uc002kda.2_Silent_p.P100P|ASPSCR1_uc002kdb.1_Silent_p.P100P	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	177							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)			GCTACGACCCCGTGGGCAAGA	0.582			T	TFE3	alveolar soft part sarcoma							
ASPSCR1	79058	broad.mit.edu	37	17	79974836	79974836	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:79974836G>A	uc002kcx.2	+	15	1592	c.1495G>A	c.(1495-1497)GGG>AGG	p.G499R	ASPSCR1_uc002kcw.1_Missense_Mutation_p.G499R|ASPSCR1_uc002kcy.2_Missense_Mutation_p.G593R|ASPSCR1_uc002kcz.2_Missense_Mutation_p.G393R|ASPSCR1_uc002kda.2_Missense_Mutation_p.G447R	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	499							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)			CAGGGCCGCCGGGTCCCCTTC	0.692			T	TFE3	alveolar soft part sarcoma							
FASN	2194	broad.mit.edu	37	17	80037389	80037389	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:80037389C>A	uc002kdu.2	-	42	7359	c.7242G>T	c.(7240-7242)CAG>CAT	p.Q2414H	FASN_uc002kdv.1_RNA	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2414	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGCTCAGCTCCTGGCGGTCCA	0.642												
C17orf62	79415	broad.mit.edu	37	17	80402350	80402350	+	Missense_Mutation	SNP	G	G	A	rs139347006		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:80402350G>A	uc002kez.2	-	5	464	c.416C>T	c.(415-417)ACG>ATG	p.T139M	C17orf62_uc002kex.2_Translation_Start_Site|C17orf62_uc002key.2_Translation_Start_Site|C17orf62_uc002kfa.2_Missense_Mutation_p.T139M|C17orf62_uc010dir.2_Missense_Mutation_p.T139M|C17orf62_uc002kfb.3_Missense_Mutation_p.T139M|C17orf62_uc002kfc.3_Missense_Mutation_p.T125M|C17orf62_uc002kfd.3_Translation_Start_Site|C17orf62_uc002kfe.3_Translation_Start_Site	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	hypothetical protein LOC79415 isoform a	139						integral to membrane	protein binding				0	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGCACTCTGCGTGAGGGGGTG	0.627												
FN3K	64122	broad.mit.edu	37	17	80708552	80708552	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:80708552A>C	uc010wvs.1	+	6	912	c.851A>C	c.(850-852)AAC>ACC	p.N284T	TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	284					fructoselysine metabolic process		fructosamine-3-kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CAGCTGTTTAACTACCTGAAC	0.572												
MYOM1	8736	broad.mit.edu	37	18	3067480	3067480	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:3067480A>G	uc002klp.2	-	38	5172	c.4838T>C	c.(4837-4839)CTG>CCG	p.L1613P	MYOM1_uc002klq.2_Missense_Mutation_p.L1517P	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	1613	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GTCTGAGGCCAGGGCCTTCTC	0.587												
LAMA1	284217	broad.mit.edu	37	18	7013850	7013850	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:7013850G>A	uc002knm.2	-	23	3421	c.3327C>T	c.(3325-3327)TGC>TGT	p.C1109C	LAMA1_uc010wzj.1_Silent_p.C585C	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1109	Laminin EGF-like 13.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACACAGCCGCAGAGACCCT	0.577												
LAMA1	284217	broad.mit.edu	37	18	7036027	7036027	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:7036027C>T	uc002knm.2	-	13	1892	c.1798G>A	c.(1798-1800)GTA>ATA	p.V600I	LAMA1_uc010wzj.1_Missense_Mutation_p.V76I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	600	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTACTGTCTACCGTCTCTACC	0.448												
APCDD1	147495	broad.mit.edu	37	18	10471815	10471815	+	Silent	SNP	C	C	T	rs149506112	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:10471815C>T	uc002kom.3	+	3	885	c.531C>T	c.(529-531)GAC>GAT	p.D177D		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	177	Extracellular (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0				READ - Rectum adenocarcinoma(15;0.08)		TCCTCGCAGACGGGGGTCCCT	0.627												
NAPG	8774	broad.mit.edu	37	18	10548342	10548342	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:10548342T>C	uc002kon.2	+	10	859	c.632T>C	c.(631-633)GTA>GCA	p.V211A	NAPG_uc010wzr.1_Missense_Mutation_p.V129A|NAPG_uc002koo.2_Missense_Mutation_p.V124A|NAPG_uc002kop.2_Missense_Mutation_p.V124A	NM_003826	NP_003817	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment	211					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding				0						AATGACTATGTAGCTGCAGAA	0.403												
ROCK1	6093	broad.mit.edu	37	18	18562783	18562783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:18562783C>A	uc002kte.2	-	21	3441	c.2500G>T	c.(2500-2502)GGA>TGA	p.G834*		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	834	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)					CCTTCATTTCCTCTATACTGT	0.338												
CTAGE1	64693	broad.mit.edu	37	18	19997740	19997740	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:19997740C>A	uc002ktv.1	-	1	139	c.35G>T	c.(34-36)TGG>TTG	p.W12L		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	12						integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CACCAATTCCCATGGAAAACC	0.488												
NPC1	4864	broad.mit.edu	37	18	21121037	21121037	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:21121037T>A	uc002kum.3	-	16	2783	c.2509A>T	c.(2509-2511)ATT>TTT	p.I837F	NPC1_uc010xaz.1_Missense_Mutation_p.I570F|NPC1_uc010xba.1_Missense_Mutation_p.I682F	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	837	Helical; (Potential).				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATACCACAATTGGTCTCATC	0.448												
AQP4	361	broad.mit.edu	37	18	24441102	24441102	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:24441102A>G	uc002kwa.2	-	3	668	c.605T>C	c.(604-606)TTA>TCA	p.L202S	AQP4_uc002kvz.2_Missense_Mutation_p.L180S	NM_001650	NP_001641	P55087	AQP4_HUMAN	aquaporin 4 isoform a	202	Helical; (Potential).				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity				0	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TACTGCAAATAAATGTCCAAT	0.393												
KLHL14	57565	broad.mit.edu	37	18	30349891	30349891	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:30349891G>A	uc002kxm.1	-	2	1052	c.664C>T	c.(664-666)CGC>TGC	p.R222C		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	222	BACK.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						AGCAGGGCGCGCATCTCCTCG	0.657												
NOL4	8715	broad.mit.edu	37	18	31803204	31803204	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:31803204C>A	uc010dmi.2	-	1	243	c.14G>T	c.(13-15)CGC>CTC	p.R5L	NOL4_uc002kxr.3_5'Flank|NOL4_uc010xbt.1_5'Flank|NOL4_uc010dmh.2_5'Flank|NOL4_uc010xbu.1_Missense_Mutation_p.R5L|NOL4_uc002kxt.3_Missense_Mutation_p.R5L	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	5						nucleolus	RNA binding			ovary(3)	3						GTACATGTCGCGCTCGCTCTC	0.612												
SLC39A6	25800	broad.mit.edu	37	18	33694199	33694199	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:33694199G>A	uc010dmy.2	-	7	1994	c.1704C>T	c.(1702-1704)CAC>CAT	p.H568H	SLC39A6_uc002kzj.2_Silent_p.H293H	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	568	His-rich.|Cytoplasmic (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						tttggtggtggtgatgatgga	0.313												
KIAA1632	57724	broad.mit.edu	37	18	43495561	43495561	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:43495561C>T	uc002lbm.2	-	20	3708	c.3608G>A	c.(3607-3609)CGG>CAG	p.R1203Q	KIAA1632_uc002lbo.1_Missense_Mutation_p.R1203Q|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.R78Q	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1203					autophagy						0						GAGCAGACTCCGGTCACAGTG	0.498												
ST8SIA5	29906	broad.mit.edu	37	18	44336461	44336461	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:44336461G>A	uc002lcj.1	-	1	579	c.11C>T	c.(10-12)GCG>GTG	p.A4V	ST8SIA5_uc010xcy.1_Missense_Mutation_p.A4V|ST8SIA5_uc010xcz.1_Missense_Mutation_p.A4V|ST8SIA5_uc010dno.1_Missense_Mutation_p.A4V	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	4	Cytoplasmic (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						CGAGGGGTCCGCGTAGCGCAT	0.448												
HDHD2	84064	broad.mit.edu	37	18	44660950	44660950	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:44660950A>G	uc002lcs.2	-	3	360	c.227T>C	c.(226-228)CTG>CCG	p.L76P	HDHD2_uc002lct.2_5'UTR	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain	76							hydrolase activity				0						GGCTGCAGTCAGAGATGTGAA	0.413												
KIAA0427	9811	broad.mit.edu	37	18	46163044	46163044	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:46163044C>A	uc002ldc.2	+	3	525	c.240C>A	c.(238-240)GCC>GCA	p.A80A	KIAA0427_uc002ldd.2_Silent_p.A80A	NM_014772	NP_055587	O43310	CTIF_HUMAN	hypothetical protein LOC9811 isoform 1	80	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding				0						GAGGGCGAGCCCCCCCACAGC	0.642												
DYM	54808	broad.mit.edu	37	18	46808386	46808386	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:46808386C>T	uc002ldi.1	-	10	1471	c.1106G>A	c.(1105-1107)CGC>CAC	p.R369H	DYM_uc010xdf.1_Missense_Mutation_p.R179H|DYM_uc002ldj.3_Missense_Mutation_p.R191H	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	369						Golgi apparatus					0						CATATCTGTGCGAGCCAACAT	0.284												
DCC	1630	broad.mit.edu	37	18	50592432	50592432	+	Missense_Mutation	SNP	G	G	A	rs140711456	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:50592432G>A	uc002lfe.1	+	7	1744	c.1157G>A	c.(1156-1158)CGG>CAG	p.R386Q	DCC_uc010xdr.1_Missense_Mutation_p.R234Q|DCC_uc010dpf.1_Missense_Mutation_p.R41Q	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	386	Extracellular (Potential).|Ig-like C2-type 4.				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)		AGCAACTTACGGATACTTGGG	0.418												
ALPK2	115701	broad.mit.edu	37	18	56202918	56202918	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:56202918C>T	uc002lhj.3	-	5	4715	c.4501G>A	c.(4501-4503)GGT>AGT	p.G1501S	ALPK2_uc002lhk.1_Missense_Mutation_p.G832S	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1501							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						ATTCTTTCACCGCCTTCGCTG	0.483												
ZNF516	9658	broad.mit.edu	37	18	74092152	74092152	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:74092152C>T	uc010dqx.1	-	3	2153	c.1918G>A	c.(1918-1920)GGC>AGC	p.G640S	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	640					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)		TTGGACTCGCCGGTGTCTCTT	0.537												
ZNF236	7776	broad.mit.edu	37	18	74639294	74639294	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:74639294C>T	uc002lmi.2	+	24	4427	c.4229C>T	c.(4228-4230)ACG>ATG	p.T1410M	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)		CAGCAGCTCACGGGGGAGCCT	0.552												
LPPR3	79948	broad.mit.edu	37	19	815829	815829	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:815829A>T	uc002lpx.1	-	3	162	c.98T>A	c.(97-99)ATC>AAC	p.I33N	LPPR3_uc010dru.1_5'Flank|LPPR3_uc002lpw.1_Missense_Mutation_p.I33N|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	plasticity-related protein 2	33	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity				0						CAAGGATACGATGGAAGAAGC	0.602												
HMHA1	23526	broad.mit.edu	37	19	1074618	1074618	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:1074618C>T	uc002lqz.1	+	9	1230	c.999C>T	c.(997-999)CAC>CAT	p.H333H	HMHA1_uc010xgd.1_Silent_p.H349H|HMHA1_uc010xge.1_Silent_p.H173H|HMHA1_uc002lra.1_Silent_p.H173H|HMHA1_uc002lrb.1_Silent_p.H216H|HMHA1_uc002lrc.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	333					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGCCCCACATGCCGCTCC	0.697												
HMHA1	23526	broad.mit.edu	37	19	1080043	1080043	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:1080043C>T	uc002lqz.1	+	13	1860	c.1629C>T	c.(1627-1629)CAC>CAT	p.H543H	HMHA1_uc010xgd.1_Silent_p.H559H|HMHA1_uc010xge.1_Silent_p.H383H|HMHA1_uc002lra.1_Silent_p.H383H|HMHA1_uc002lrb.1_Silent_p.H426H|HMHA1_uc002lrc.1_Silent_p.H178H|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	543					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCTCCCACGTGCGCCAGC	0.647												
APC2	10297	broad.mit.edu	37	19	1460273	1460273	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:1460273C>T	uc002lsr.1	+	11	1605	c.1397C>T	c.(1396-1398)GCG>GTG	p.A466V	APC2_uc002lss.1_Missense_Mutation_p.A48V|APC2_uc002lst.1_Missense_Mutation_p.A466V|APC2_uc002lsu.1_Missense_Mutation_p.A465V|uc002lsv.2_5'Flank	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	466					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGCTACGCGGGCATGACC	0.642												
TMPRSS9	360200	broad.mit.edu	37	19	2422184	2422184	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:2422184T>C	uc010xgx.1	+	13	2385	c.2385T>C	c.(2383-2385)ACT>ACC	p.T795T		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	795	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				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)		TGAGCACCACTGCTAGGGGAC	0.662												
ZNF77	58492	broad.mit.edu	37	19	2934127	2934127	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:2934127A>G	uc002lws.3	-	4	1129	c.998T>C	c.(997-999)TTC>TCC	p.F333S		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	333	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAACAAGTGAACGCTTTTCC	0.478												
ZNF77	58492	broad.mit.edu	37	19	2934175	2934175	+	Missense_Mutation	SNP	G	G	A	rs151130031	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:2934175G>A	uc002lws.3	-	4	1081	c.950C>T	c.(949-951)ACG>ATG	p.T317M		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	317	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGTGTGCGTCCTCACGTG	0.458												
C19orf29	58509	broad.mit.edu	37	19	3624114	3624114	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:3624114G>A	uc002lyh.2	-	2	267	c.214C>T	c.(214-216)CGG>TGG	p.R72W	C19orf29_uc002lyi.3_Missense_Mutation_p.R72W|C19orf29_uc010dto.2_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	72						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGGCTCCGGCTTCGCATC	0.632												
PIP5K1C	23396	broad.mit.edu	37	19	3653477	3653477	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:3653477G>A	uc002lyj.1	-	7	789	c.732C>T	c.(730-732)CGC>CGT	p.R244R	PIP5K1C_uc010xhq.1_Silent_p.R244R|PIP5K1C_uc010xhr.1_Silent_p.R244R	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	244	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		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)		TCTTGACCACGCGGGGCAGGA	0.602												
TJP3	27134	broad.mit.edu	37	19	3746525	3746525	+	Missense_Mutation	SNP	C	C	T	rs142262857		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:3746525C>T	uc010xhv.1	+	16	2152	c.2152C>T	c.(2152-2154)CGC>TGC	p.R718C	TJP3_uc010xhs.1_Missense_Mutation_p.R685C|TJP3_uc010xht.1_Missense_Mutation_p.R649C|TJP3_uc010xhu.1_Missense_Mutation_p.R694C|TJP3_uc010xhw.1_Missense_Mutation_p.R704C	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	699	Guanylate kinase-like.					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)		CGCCATCGAGCGCCTCAACTA	0.652												
DAPK3	1613	broad.mit.edu	37	19	3959614	3959614	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:3959614G>A	uc002lzc.1	-	8	943	c.850C>T	c.(850-852)CGT>TGT	p.R284C	DAPK3_uc002lzb.1_Missense_Mutation_p.R21C|DAPK3_uc002lzd.1_Missense_Mutation_p.R284C	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	284					apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCACCACGCACGTTCCGC	0.682												
ANKRD24	170961	broad.mit.edu	37	19	4216637	4216637	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:4216637G>A	uc010dtt.1	+	18	1756	c.1480G>A	c.(1480-1482)GCC>ACC	p.A494T	ANKRD24_uc002lzs.2_Missense_Mutation_p.A465T|ANKRD24_uc002lzt.2_Missense_Mutation_p.A466T	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	494	Potential.										0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CTCTCTCCGGGCCGAGTTTGA	0.607												
ZNRF4	148066	broad.mit.edu	37	19	5456055	5456055	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:5456055G>A	uc002mca.3	+	1	630	c.553G>A	c.(553-555)GTG>ATG	p.V185M		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	185	Extracellular (Potential).|PA.					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCGGCCATCGTGCACAACGT	0.657												
ZNF358	140467	broad.mit.edu	37	19	7585009	7585009	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:7585009C>T	uc002mgn.2	+	2	1051	c.881C>T	c.(880-882)CCG>CTG	p.P294L	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	294	C2H2-type 6.				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TACCCGTGTCCGCAGTGCGGC	0.726												
ZNF358	140467	broad.mit.edu	37	19	7585714	7585714	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:7585714A>T	uc002mgn.2	+	2	1756	c.1586A>T	c.(1585-1587)AAC>ATC	p.N529I	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	529					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CCTGATCCCAACCCTGTGTCC	0.657												
MCOLN1	57192	broad.mit.edu	37	19	7591756	7591756	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:7591756G>A	uc002mgo.2	+	4	640	c.515G>A	c.(514-516)CGA>CAA	p.R172Q	MCOLN1_uc002mgp.2_Missense_Mutation_p.E59K	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	172				ALCQRYYHRGHVDPANDTFDIDPMVVTD -> LSASGTTTE ATWTRPTTHLTLIRWWLLVN (in Ref. 3; AAG42242).	calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1						TACTACCACCGAGGCCACGTG	0.607												
PNPLA6	10908	broad.mit.edu	37	19	7607555	7607555	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:7607555G>A	uc010xjq.1	+	13	1583	c.1388G>A	c.(1387-1389)CGG>CAG	p.R463Q	PNPLA6_uc002mgq.1_Missense_Mutation_p.R415Q|PNPLA6_uc010xjp.1_Missense_Mutation_p.R415Q|PNPLA6_uc002mgr.1_Missense_Mutation_p.R415Q|PNPLA6_uc002mgs.2_Missense_Mutation_p.R454Q	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	454	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						GCCCCCGCTCGGGTAAGGCTT	0.701												
EVI5L	115704	broad.mit.edu	37	19	7911452	7911452	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:7911452C>T	uc002min.2	+	2	178	c.24C>T	c.(22-24)CCC>CCT	p.P8P	EVI5L_uc010xjz.1_Silent_p.P8P	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	8						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						CTCTGAGCCCCGACTCCTCAT	0.662												
CD320	51293	broad.mit.edu	37	19	8369983	8369983	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:8369983C>T	uc002mjj.1	-	2	265	c.200G>A	c.(199-201)TGC>TAC	p.C67Y	CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Intron	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	8D6 antigen isoform 1 precursor	67	Extracellular (Potential).|LDL-receptor class A 1.				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity				0						GAGGGGCACGCATAAGCCACT	0.647												
HNRNPM	4670	broad.mit.edu	37	19	8550759	8550759	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:8550759G>A	uc010dwe.2	+	14	1527	c.1447G>A	c.(1447-1449)GTG>ATG	p.V483M	HNRNPM_uc010xke.1_Missense_Mutation_p.V429M|HNRNPM_uc010dwd.2_Missense_Mutation_p.V444M|HNRNPM_uc002mka.2_Missense_Mutation_p.V348M|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	483	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].|12.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						TGGCTCTGGCGTGGAGCGCAT	0.677												
MBD3L1	85509	broad.mit.edu	37	19	8953929	8953929	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:8953929A>T	uc002mko.2	+	1	661	c.575A>T	c.(574-576)GAA>GTA	p.E192V		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GGCCGTCCTGAAAAACGCTAA	0.423												
MUC16	94025	broad.mit.edu	37	19	8993496	8993496	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:8993496G>A	uc002mkp.2	-	66	41797	c.41593C>T	c.(41593-41595)CGC>TGC	p.R13865C	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R682C|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13868	Extracellular (Potential).|SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGGTCAGGGCGGTGGGTGCAG	0.592												
MUC16	94025	broad.mit.edu	37	19	9000464	9000464	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:9000464G>A	uc002mkp.2	-	54	40724	c.40520C>T	c.(40519-40521)ACG>ATG	p.T13507M	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.T324M|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13509	SEA 10.|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						GACTCTCTCCGTGGTGTTAAA	0.507												
ICAM1	3383	broad.mit.edu	37	19	10385679	10385679	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:10385679A>G	uc002mnq.2	+	2	625	c.306A>G	c.(304-306)ACA>ACG	p.T102T	ICAM1_uc010xle.1_Intron	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	102	Extracellular (Potential).|Ig-like C2-type 1.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GGCAGTCAACAGCTAAAACCT	0.557												
FDX1L	112812	broad.mit.edu	37	19	10421567	10421567	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:10421567A>G	uc002mny.1	-	4	376	c.357T>C	c.(355-357)AGT>AGC	p.S119S	ZGLP1_uc002mnw.3_5'Flank|FDX1L_uc002mnx.1_RNA	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like precursor	119	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GGTGGTCTTCACTCACATACA	0.632												
TYK2	7297	broad.mit.edu	37	19	10463634	10463634	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:10463634G>A	uc002moc.3	-	22	3546	c.3168C>T	c.(3166-3168)CGC>CGT	p.R1056R	TYK2_uc010dxe.2_Silent_p.R871R	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	1056	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCTCGCGCACGCGGTAGTACT	0.657												
TYK2	7297	broad.mit.edu	37	19	10463657	10463657	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:10463657G>A	uc002moc.3	-	22	3523	c.3145C>T	c.(3145-3147)CCC>TCC	p.P1049S	TYK2_uc010dxe.2_Missense_Mutation_p.P864S	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	1049	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGGCCTTCGGGCACGGCCTTG	0.662												
DNM2	1785	broad.mit.edu	37	19	10893692	10893692	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:10893692C>T	uc002mps.1	+	6	909	c.745C>T	c.(745-747)CGT>TGT	p.R249C	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.R249C|DNM2_uc002mpv.1_Missense_Mutation_p.R249C|DNM2_uc002mpu.1_Missense_Mutation_p.R249C|DNM2_uc010dxl.1_Missense_Mutation_p.R249C|DNM2_uc002mpw.2_5'UTR	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	249					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GAAGGACATCCGTGCAGCACT	0.607												
KANK2	25959	broad.mit.edu	37	19	11289278	11289278	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:11289278C>T	uc010dxv.2	-	7	1926	c.1368G>A	c.(1366-1368)GAG>GAA	p.E456E	KANK2_uc002mqm.2_Silent_p.E456E|KANK2_uc002mqo.3_Silent_p.E456E|KANK2_uc002mqp.1_Silent_p.E265E	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	456											0						GCCTGGTGGGCTCCCTGTGGG	0.692												
CCDC159	126075	broad.mit.edu	37	19	11465355	11465355	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:11465355G>A	uc010xlw.1	+	11	1200	c.1121G>A	c.(1120-1122)GGC>GAC	p.G374D	CCDC159_uc010xlt.1_Missense_Mutation_p.G291D|LPPR2_uc002mre.1_5'Flank|LPPR2_uc002mrf.1_5'Flank	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN	coiled-coil domain-containing-like	406										ovary(1)	1						AGCAAGAGCGGCCGCTCCTTC	0.647												
ELAVL3	1995	broad.mit.edu	37	19	11577437	11577437	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:11577437C>T	uc002mry.1	-	2	595	c.215G>A	c.(214-216)CGG>CAG	p.R72Q	ELAVL3_uc002mrx.1_Missense_Mutation_p.R72Q	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	72	RRM 1.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						GATCTTGTCCCGAACCAACTT	0.562												
ZNF653	115950	broad.mit.edu	37	19	11598444	11598444	+	Silent	SNP	G	G	A	rs142746343		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:11598444G>A	uc002mrz.1	-	4	887	c.834C>T	c.(832-834)TGC>TGT	p.C278C		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCACCGGCACGCACACCACTG	0.677												
ACP5	54	broad.mit.edu	37	19	11687248	11687248	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:11687248C>T	uc002msg.3	-	4	691	c.545G>A	c.(544-546)CGC>CAC	p.R182H	ACP5_uc002msh.3_Missense_Mutation_p.R182H|ACP5_uc002msi.3_Missense_Mutation_p.R182H|ACP5_uc002msj.3_Missense_Mutation_p.R182H	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	182					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						CAGCTGTGTGCGGGCCAGCTT	0.612												
WDR83	84292	broad.mit.edu	37	19	12783928	12783928	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:12783928C>T	uc002mue.3	+	9	1016	c.681C>T	c.(679-681)GGC>GGT	p.G227G	WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_Silent_p.G227G	NM_001099737	NP_001093207	Q9BRX9	WDR83_HUMAN	mitogen-activated protein kinase organizer 1	227	WD 5.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				lung(1)|breast(1)	2						AGCTGCTGGGCGAGTGAGTCC	0.637												
FBXW9	84261	broad.mit.edu	37	19	12800607	12800607	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:12800607C>T	uc010dyx.2	-	7	1174	c.1174G>A	c.(1174-1176)GCC>ACC	p.A392T	FBXW9_uc010xmp.1_RNA|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Missense_Mutation_p.A372T|FBXW9_uc002mun.1_Missense_Mutation_p.A209T	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	402	WD 5.						protein binding			ovary(1)	1						TTGCGGTTGGCGAAGACGTGC	0.647												
JUNB	3726	broad.mit.edu	37	19	12902771	12902771	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:12902771C>T	uc002mvc.2	+	1	462	c.186C>T	c.(184-186)GGC>GGT	p.G62G	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	62						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						GCCCAGAGGGCGGCGGTGGCG	0.652												
DAND5	199699	broad.mit.edu	37	19	13080609	13080609	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:13080609A>G	uc002mwc.1	+	1	178	c.135A>G	c.(133-135)CCA>CCG	p.P45P	DAND5_uc010dyz.1_Silent_p.P75P	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	dante precursor	45						extracellular region				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			CTCTGGGCCCAGGGGCCCTGC	0.677												
CACNA1A	773	broad.mit.edu	37	19	13414693	13414693	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:13414693C>T	uc010dze.2	-	16	2231	c.1995G>A	c.(1993-1995)CTG>CTA	p.L665L	CACNA1A_uc010dzc.2_Silent_p.L190L|CACNA1A_uc002mwy.3_Silent_p.L664L|CACNA1A_uc010xne.1_Silent_p.L190L	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	665	Extracellular (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTTCGCCCGTCAGGATCTGAA	0.602												
CCDC105	126402	broad.mit.edu	37	19	15133898	15133898	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:15133898G>A	uc002nae.2	+	7	1566	c.1467G>A	c.(1465-1467)CCG>CCA	p.P489P		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	489					microtubule cytoskeleton organization	microtubule				ovary(1)	1						CGCGCACGCCGCCGCCGCGCA	0.711												
C19orf44	84167	broad.mit.edu	37	19	16620476	16620476	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:16620476G>A	uc002neh.1	+	5	1389	c.1316G>A	c.(1315-1317)AGC>AAC	p.S439N	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S439N|C19orf44_uc002neg.2_Missense_Mutation_p.S439N|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	439											0						CTCAGTGCCAGCTCGGCTTCT	0.612												
SLC27A1	376497	broad.mit.edu	37	19	17597507	17597507	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:17597507C>T	uc002ngu.1	+	2	353	c.303C>T	c.(301-303)GGC>GGT	p.G101G	SLC27A1_uc002ngt.1_Intron|SLC27A1_uc010xpp.1_5'UTR	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	101	Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0						CCGGGACCGGCGAGTGCTGGA	0.697												
FAM129C	199786	broad.mit.edu	37	19	17641670	17641670	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:17641670C>A	uc010xpr.1	+	3	393	c.255C>A	c.(253-255)ACC>ACA	p.T85T	FAM129C_uc010xpq.1_Silent_p.T85T|FAM129C_uc010xps.1_Silent_p.T54T|FAM129C_uc010xpt.1_Intron	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	85											0						AGGAGCCGACCGGAAGCCAGT	0.632												
UNC13A	23025	broad.mit.edu	37	19	17752292	17752292	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:17752292G>C	uc002nhd.2	-	21	2810	c.2810C>G	c.(2809-2811)GCC>GGC	p.A937G		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	849					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						AACCTTCCAGGCATCGTCACC	0.547												
UNC13A	23025	broad.mit.edu	37	19	17785510	17785510	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:17785510G>A	uc002nhd.2	-	4	372	c.372C>T	c.(370-372)ATC>ATT	p.I124I		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	36	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						CCCGCACCGCGATGGTCGTGC	0.592												
SFRS14	10147	broad.mit.edu	37	19	19135651	19135651	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:19135651G>A	uc002nkx.2	-	3	1652	c.1506C>T	c.(1504-1506)GTC>GTT	p.V502V	SFRS14_uc002nkz.1_Silent_p.V516V|SFRS14_uc002nla.1_Silent_p.V502V|SFRS14_uc002nlb.2_Silent_p.V502V|SFRS14_uc010xqk.1_Silent_p.V271V	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	502					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			CTTGCAGGCCGACAGCTTCTA	0.507												
TSSK6	83983	broad.mit.edu	37	19	19625628	19625628	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:19625628G>A	uc002nmr.2	-	1	842	c.609C>T	c.(607-609)TAC>TAT	p.Y203Y	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	203	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						TGACCATGACGTAGAGCACGA	0.662												
CILP2	148113	broad.mit.edu	37	19	19655446	19655446	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:19655446C>T	uc002nmv.3	+	8	2177	c.2092C>T	c.(2092-2094)CGG>TGG	p.R698W	CILP2_uc002nmw.3_Missense_Mutation_p.R704W	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	698						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GAGCGGCTTCCGGCGCGAGGG	0.706												
ZNF208	7757	broad.mit.edu	37	19	22157258	22157258	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:22157258C>A	uc002nqp.2	-	4	727	c.578G>T	c.(577-579)AGA>ATA	p.R193I	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTATAAATTCTTTTATGTTG	0.353												
ZNF507	22847	broad.mit.edu	37	19	32845589	32845589	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:32845589A>G	uc002nte.2	+	3	2125	c.1853A>G	c.(1852-1854)CAA>CGA	p.Q618R	ZNF507_uc002ntc.2_Missense_Mutation_p.Q618R|ZNF507_uc010xrn.1_Missense_Mutation_p.Q618R|ZNF507_uc002ntd.2_Missense_Mutation_p.Q618R	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					GCCCAGTGCCAACCCAACAGC	0.483												
UBA2	10054	broad.mit.edu	37	19	34919408	34919408	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:34919408G>T	uc002nvk.2	+	1	141	c.71G>T	c.(70-72)GGG>GTG	p.G24V	UBA2_uc010xrx.1_5'UTR|UBA2_uc002nvl.2_5'Flank	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	24	ATP.				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTGGTGGTGGGGGCGGGCGGC	0.746												
GRAMD1A	57655	broad.mit.edu	37	19	35510163	35510163	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:35510163C>A	uc010xse.1	+	12	1419	c.1282C>A	c.(1282-1284)CCC>ACC	p.P428T	GRAMD1A_uc002nxk.2_Missense_Mutation_p.P421T|GRAMD1A_uc002nxl.2_Missense_Mutation_p.P194T|GRAMD1A_uc010xsf.1_Missense_Mutation_p.P433T|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.P43T	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	428						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTACACCATCCCCATCAGCAA	0.677												
USF2	7392	broad.mit.edu	37	19	35770093	35770093	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:35770093C>T	uc002nyq.1	+	10	1084	c.975C>T	c.(973-975)AAC>AAT	p.N325N	USF2_uc010xss.1_3'UTR|USF2_uc002nyr.1_Silent_p.N258N|USF2_uc002nys.1_Silent_p.N127N|USF2_uc002nyt.1_Silent_p.N194N|USF2_uc002nyu.1_Silent_p.N127N|USF2_uc002nyv.1_Silent_p.N119N	NM_003367	NP_003358	Q15853	USF2_HUMAN	upstream stimulatory factor 2 isoform 1	325	Leucine-zipper.				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity				0	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGAATGAGAACGCCCTGCTTC	0.697												
FFAR2	2867	broad.mit.edu	37	19	35940753	35940753	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:35940753T>C	uc002nzg.2	+	2	217	c.137T>C	c.(136-138)ATC>ACC	p.I46T	FFAR2_uc010eea.2_Missense_Mutation_p.I46T	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	46	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGTGCACATCCTCCTGCTG	0.642												
UPK1A	11045	broad.mit.edu	37	19	36166831	36166831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:36166831G>A	uc002oaw.2	+	5	558	c.558G>A	c.(556-558)TGG>TGA	p.W186*	UPK1A_uc010eeh.2_Nonsense_Mutation_p.W186*|uc002oax.1_5'Flank	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	186	Extracellular (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGTTCCCCTGGCCCCCACTGT	0.622												
ZBTB32	27033	broad.mit.edu	37	19	36205601	36205601	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:36205601C>T	uc002oay.2	+	2	283	c.73C>T	c.(73-75)CGG>TGG	p.R25W	ZBTB32_uc002oaz.2_RNA	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	25					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCAGGCTCCGGCCAGCACT	0.632												
LRFN3	79414	broad.mit.edu	37	19	36435548	36435548	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:36435548C>T	uc002oco.2	+	3	1966	c.1514C>T	c.(1513-1515)ACG>ATG	p.T505M		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	505	Extracellular (Potential).|Fibronectin type-III.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACAGCGCCACGGGGCTCACG	0.721												
THAP8	199745	broad.mit.edu	37	19	36530862	36530862	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:36530862C>T	uc002oda.1	-	2	805	c.260G>A	c.(259-261)CGG>CAG	p.R87Q	uc002ocy.2_Intron|THAP8_uc010xtb.1_Missense_Mutation_p.R44Q|THAP8_uc010xtc.1_Intron	NM_152658	NP_689871	Q8NA92	THAP8_HUMAN	THAP domain containing 8	87							DNA binding|metal ion binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGGTGGTCCCCGGGAGAAGAT	0.627												
ZFP14	57677	broad.mit.edu	37	19	36831891	36831891	+	Silent	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:36831891A>C	uc002odx.1	-	4	930	c.837T>G	c.(835-837)ACT>ACG	p.T279T	ZFP14_uc010xtd.1_Silent_p.T280T|ZFP14_uc010eex.1_Silent_p.T279T	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	zinc finger protein 14-like	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.162)					GTTTCTCACCAGTGTGAATTC	0.433												
ZNF420	147923	broad.mit.edu	37	19	37619900	37619900	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:37619900A>G	uc002ofl.2	+	5	2222	c.2007A>G	c.(2005-2007)AAA>AAG	p.K669K		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	669					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGTGAGAAATCTTTTGAAT	0.373												
ZNF607	84775	broad.mit.edu	37	19	38190550	38190550	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:38190550T>C	uc002ohc.1	-	5	1078	c.482A>G	c.(481-483)CAG>CGG	p.Q161R	ZNF607_uc002ohb.1_Missense_Mutation_p.Q160R	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	zinc finger protein 607	161	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTAATTTTCTGATGCTTTCT	0.388												
RYR1	6261	broad.mit.edu	37	19	38951087	38951087	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:38951087T>C	uc002oit.2	+	20	2563	c.2433T>C	c.(2431-2433)CAT>CAC	p.H811H	RYR1_uc002oiu.2_Silent_p.H811H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	811	Cytoplasmic.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCCATGCCATGAGGCTGTGC	0.627												
ACTN4	81	broad.mit.edu	37	19	39219765	39219765	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:39219765G>A	uc002oja.1	+	20	2607	c.2548G>A	c.(2548-2550)GCT>ACT	p.A850T	ACTN4_uc002ojb.1_Missense_Mutation_p.A172T	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	850				A -> T (in Ref. 3; AAC17470).	platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGGTCATCGCTTCCTTCAA	0.637												
ECH1	1891	broad.mit.edu	37	19	39306597	39306597	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:39306597G>A	uc002oji.2	-	9	867	c.782C>T	c.(781-783)GCG>GTG	p.A261V	LGALS4_uc002ojg.2_5'Flank|LGALS4_uc010xuj.1_5'Flank|ECH1_uc002ojh.2_Missense_Mutation_p.A141V	NM_001398	NP_001389	Q13011	ECH1_HUMAN	peroxisomal enoyl-coenzyme A hydratase-like	261					fatty acid beta-oxidation|generation of precursor metabolites and energy	mitochondrion|peroxisome	enoyl-CoA hydratase activity|isomerase activity|protein binding			ovary(1)	1	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AATCTCGGCCGCCAGCGCTAA	0.617												
RINL	126432	broad.mit.edu	37	19	39361234	39361234	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:39361234G>A	uc002ojq.2	-	8	1046	c.658C>T	c.(658-660)CTC>TTC	p.L220F	RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Missense_Mutation_p.L334F	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	220							GTPase activator activity			pancreas(1)	1						TTCTTGGGGAGCCCAGGACCC	0.592												
SELV	348303	broad.mit.edu	37	19	40006574	40006574	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:40006574T>C	uc010xvc.1	+	1	822	c.722T>C	c.(721-723)ATC>ACC	p.I241T		NM_182704	NP_874363	P59797	SELV_HUMAN	selenoprotein V	241					cell redox homeostasis		selenium binding				0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCGTCGGCCATCTCCTTACAG	0.617												
C19orf47	126526	broad.mit.edu	37	19	40832287	40832287	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:40832287G>A	uc002oni.3	-	7	658	c.657C>T	c.(655-657)ACC>ACT	p.T219T	C19orf47_uc002ong.2_Silent_p.T78T|C19orf47_uc002onh.2_Silent_p.T152T	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	219										ovary(1)|skin(1)	2			Lung(22;0.000636)			TGCGGGGTGTGGTGCCTTTGG	0.652												
LTBP4	8425	broad.mit.edu	37	19	41135394	41135394	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:41135394G>A	uc002ooh.1	+	34	4814	c.4814G>A	c.(4813-4815)CGC>CAC	p.R1605H	LTBP4_uc002oog.1_Missense_Mutation_p.R1568H|LTBP4_uc002ooi.1_Missense_Mutation_p.R1538H|LTBP4_uc002ooj.1_Missense_Mutation_p.R478H|LTBP4_uc002ool.1_Missense_Mutation_p.R617H|LTBP4_uc010xvp.1_Missense_Mutation_p.R365H	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	1605	EGF-like 16.				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)			TGCATCTGCCGCCCGGGATTC	0.721												
AXL	558	broad.mit.edu	37	19	41759598	41759598	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:41759598C>T	uc010ehj.2	+	17	2211	c.2021C>T	c.(2020-2022)GCG>GTG	p.A674V	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.A665V	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	674	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						CGGGACCTGGCGGCCAGGAAC	0.582												
AXL	558	broad.mit.edu	37	19	41763458	41763458	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:41763458G>A	uc010ehj.2	+	19	2447	c.2257G>A	c.(2257-2259)GTG>ATG	p.V753M	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.V744M	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	753	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						ATATCCGGGCGTGGAGAACAG	0.567												
HNRNPUL1	11100	broad.mit.edu	37	19	41782157	41782157	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:41782157G>A	uc002oqb.3	+	5	1029	c.740G>A	c.(739-741)CGT>CAT	p.R247H	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.R147H|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.R147H|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.R247H|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.R204H|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.R147H|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.R147H|HNRNPUL1_uc010eho.2_Missense_Mutation_p.R147H|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.R147H|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.R103H|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.R147H	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	247	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						TCAGGAGCCCGTGCCAGCTAT	0.532												
B9D2	80776	broad.mit.edu	37	19	41869382	41869382	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:41869382C>T	uc002oqj.2	-	2	263	c.43G>A	c.(43-45)GGT>AGT	p.G15S	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Intron|TMEM91_uc010ehq.2_5'Flank	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	15	B9.				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			ovary(1)	1						TCCGAGAAACCGCTGGCCCCT	0.463												
TMEM91	641649	broad.mit.edu	37	19	41888686	41888686	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:41888686T>C	uc002oqk.3	+	3	571	c.220T>C	c.(220-222)TCC>CCC	p.S74P	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Missense_Mutation_p.S74P|TMEM91_uc010ehq.2_Missense_Mutation_p.S74P|TMEM91_uc002oql.2_Missense_Mutation_p.S74P|TMEM91_uc010ehr.2_Missense_Mutation_p.S74P|TMEM91_uc010ehs.2_Missense_Mutation_p.S74P|TMEM91_uc010eht.2_Missense_Mutation_p.S74P|BCKDHA_uc002oqm.3_Intron|TMEM91_uc002oqn.2_Missense_Mutation_p.S74P	NM_001098821	NP_001092291	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91 isoform a	74					response to biotic stimulus	integral to membrane					0						GGACATGTCATCCAGTGACAG	0.557												
ARHGEF1	9138	broad.mit.edu	37	19	42406950	42406950	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:42406950C>T	uc002orx.2	+	18	1749	c.1640C>T	c.(1639-1641)CCG>CTG	p.P547L	ARHGEF1_uc002ory.2_Missense_Mutation_p.P514L|ARHGEF1_uc002orz.2_Missense_Mutation_p.P385L|ARHGEF1_uc002osa.2_Missense_Mutation_p.P562L|ARHGEF1_uc002osb.2_Missense_Mutation_p.P529L|ARHGEF1_uc002osc.2_Missense_Mutation_p.P301L|ARHGEF1_uc002osd.2_Missense_Mutation_p.P206L|ARHGEF1_uc002ose.2_5'UTR	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	547	DH.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GAGAGCCGCCCGCGGTGCCGC	0.587												
ZNF574	64763	broad.mit.edu	37	19	42585031	42585031	+	Missense_Mutation	SNP	G	G	A	rs142044419		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:42585031G>A	uc002osm.3	+	2	2442	c.2273G>A	c.(2272-2274)CGC>CAC	p.R758H	ZNF574_uc002osk.3_Missense_Mutation_p.R848H	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	758	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GTGCACCGGCGCATCCACACA	0.637												
GSK3A	2931	broad.mit.edu	37	19	42738768	42738768	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:42738768G>A	uc002otb.1	-	5	848	c.729C>T	c.(727-729)CGC>CGT	p.R243R	GSK3A_uc002ota.1_Silent_p.R161R|GSK3A_uc002otc.2_RNA	NM_019884	NP_063937	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	243	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			ovary(2)|lung(2)	4		Prostate(69;0.00682)				GCTTGATGTCGCGGTGACACA	0.602												
ZNF227	7770	broad.mit.edu	37	19	44740652	44740652	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:44740652G>C	uc002oyu.2	+	6	2274	c.2069G>C	c.(2068-2070)TGT>TCT	p.C690S	ZNF227_uc010xwu.1_Missense_Mutation_p.C639S|ZNF227_uc002oyv.2_Missense_Mutation_p.C690S|ZNF227_uc010xwv.1_Missense_Mutation_p.C639S|ZNF227_uc010xww.1_Missense_Mutation_p.C611S|ZNF227_uc002oyw.2_Missense_Mutation_p.C662S|ZNF227_uc010ejh.2_Missense_Mutation_p.C683S|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	690	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)				CCTTACAAATGTGAAGAGTGT	0.453												
ZNF229	7772	broad.mit.edu	37	19	44947008	44947008	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:44947008A>G	uc002oze.1	-	3	458	c.24T>C	c.(22-24)CAT>CAC	p.H8H	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.H8H	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)				CTCTTTTCTCATGCCTTGAGG	0.473												
CLPTM1	1209	broad.mit.edu	37	19	45493718	45493718	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:45493718G>A	uc002pai.2	+	10	1213	c.1198G>A	c.(1198-1200)GTT>ATT	p.V400I	CLPTM1_uc010xxf.1_Missense_Mutation_p.V298I|CLPTM1_uc010xxg.1_Missense_Mutation_p.V386I	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	400	Helical; (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CTTCTTCGGCGTTTTCCAGTC	0.597												
ZNF296	162979	broad.mit.edu	37	19	45575703	45575703	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:45575703G>A	uc002pao.2	-	3	641	c.584C>T	c.(583-585)CCG>CTG	p.P195L		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	195					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCCCAGGAGCGGGGCCTCCGG	0.682												
KLC3	147700	broad.mit.edu	37	19	45852769	45852769	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:45852769A>G	uc002pbf.1	+	8	1167	c.1052A>G	c.(1051-1053)GAC>GGC	p.D351G	KLC3_uc010ejy.1_Missense_Mutation_p.D350G|KLC3_uc002pbg.1_Missense_Mutation_p.D365G	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	kinesin light chain 3	351	TPR 4.					cytoplasm|kinesin complex|microtubule	microtubule motor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AAGTTTGAGGACGTGGAGCGG	0.647												
KLC3	147700	broad.mit.edu	37	19	45854275	45854275	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:45854275G>T	uc002pbf.1	+	12	1558	c.1443G>T	c.(1441-1443)CAG>CAT	p.Q481H	KLC3_uc010ejy.1_Missense_Mutation_p.Q480H|KLC3_uc002pbg.1_Missense_Mutation_p.Q495H	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	kinesin light chain 3	481						cytoplasm|kinesin complex|microtubule	microtubule motor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTGGGACTCAGGTGAGGGGGA	0.567												
CD3EAP	10849	broad.mit.edu	37	19	45912587	45912587	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:45912587G>T	uc002pbq.1	+	3	1849	c.1361G>T	c.(1360-1362)AGG>ATG	p.R454M	PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Missense_Mutation_p.R456M	NM_012099	NP_036231	O15446	RPA34_HUMAN	CD3E antigen, epsilon polypeptide associated	454					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			large_intestine(2)|ovary(2)	4		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CCTGAAGCCAGGGCAACTCCG	0.517												
PPP5C	5536	broad.mit.edu	37	19	46879730	46879730	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:46879730G>A	uc002pem.2	+	4	592	c.532G>A	c.(532-534)GGA>AGA	p.G178R	PPP5C_uc010xya.1_Missense_Mutation_p.G45R|PPP5C_uc002pen.2_Missense_Mutation_p.G178R	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	178					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity			lung(1)|pancreas(1)	2		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGAGTACAGCGGACCCAAGCT	0.537												
DHX34	9704	broad.mit.edu	37	19	47883099	47883099	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:47883099C>T	uc010xyn.1	+	14	3180	c.2839C>T	c.(2839-2841)CGT>TGT	p.R947C	DHX34_uc010xyo.1_Missense_Mutation_p.R76C	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	947						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTGCGGCTCCGTGCCCGCTG	0.672												
SLC8A2	6543	broad.mit.edu	37	19	47969321	47969321	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:47969321C>T	uc002pgx.2	-	2	618	c.340G>A	c.(340-342)GGT>AGT	p.G114S	SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.G114S	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	114	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTGGTCTCACCGTTGGCCTTG	0.577												
KPTN	11133	broad.mit.edu	37	19	47986421	47986421	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:47986421G>A	uc002pgy.2	-	4	550	c.446C>T	c.(445-447)GCG>GTG	p.A149V	KPTN_uc010xys.1_RNA|uc002pgz.1_5'Flank	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	149					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			ovary(1)	1		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CACTCACTCCGCATGGCACAG	0.537												
NAPA	8775	broad.mit.edu	37	19	47996224	47996224	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:47996224G>A	uc002pha.1	-	7	855	c.555C>T	c.(553-555)TAC>TAT	p.Y185Y	uc002pgz.1_Intron|NAPA_uc002phb.1_Silent_p.Y146Y|NAPA_uc002phc.1_Silent_p.Y72Y|NAPA_uc002phd.1_Silent_p.Y185Y|NAPA_uc010elf.1_Silent_p.Y79Y	NM_003827	NP_003818	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment	185					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol					0		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CCACCTGTTCGTAGATGTCAA	0.612												
FUT2	2524	broad.mit.edu	37	19	49206646	49206646	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49206646G>A	uc002pke.3	+	2	544	c.433G>A	c.(433-435)GTC>ATC	p.V145I	FUT2_uc010emc.2_Missense_Mutation_p.V145I	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	fucosyltransferase 2	145	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			central_nervous_system(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GGGGGAGTACGTCCGCTTCAC	0.657												
RASIP1	54922	broad.mit.edu	37	19	49230076	49230076	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49230076C>T	uc002pki.2	-	8	2290	c.2093G>A	c.(2092-2094)TGT>TAT	p.C698Y	RASIP1_uc002pkh.2_5'Flank	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	698	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CTGGAAGGTACACATGATGAC	0.493												
FUT1	2523	broad.mit.edu	37	19	49253922	49253922	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49253922C>T	uc002pkk.2	-	4	1592	c.617G>A	c.(616-618)CGC>CAC	p.R206H		NM_000148	NP_000139	P19526	FUT1_HUMAN	fucosyltransferase 1	206	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)		GTCCCCTGTGCGGCCCAGGCG	0.657												
PLEKHA4	57664	broad.mit.edu	37	19	49340773	49340773	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49340773C>T	uc002pkx.2	-	20	2664	c.2113G>A	c.(2113-2115)GGT>AGT	p.G705S	HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc002pkw.1_3'UTR|PLEKHA4_uc010eml.2_3'UTR	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	705						cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGCGGCACACCGGGAAGAGGG	0.537												
PPFIA3	8541	broad.mit.edu	37	19	49641625	49641625	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49641625G>A	uc002pmr.2	+	16	2349	c.2017G>A	c.(2017-2019)GGC>AGC	p.G673S	PPFIA3_uc010yai.1_Intron|PPFIA3_uc010yaj.1_Intron|PPFIA3_uc002pms.2_Missense_Mutation_p.G541S	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	673						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)		TCCCAGCTCTGGCCACTCAAC	0.682												
TRPM4	54795	broad.mit.edu	37	19	49692316	49692316	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49692316G>A	uc002pmw.2	+	14	2059	c.1987G>A	c.(1987-1989)GCC>ACC	p.A663T	TRPM4_uc010emu.2_Missense_Mutation_p.A663T|TRPM4_uc010yak.1_Missense_Mutation_p.A127T|TRPM4_uc002pmx.2_Missense_Mutation_p.A489T|TRPM4_uc010emv.2_Missense_Mutation_p.A548T|TRPM4_uc010yal.1_Missense_Mutation_p.A309T|TRPM4_uc002pmy.2_Missense_Mutation_p.A5T	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	663	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCAAGCTGACGCCCGTGCCTT	0.622												
PRMT1	3276	broad.mit.edu	37	19	50188254	50188254	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:50188254T>C	uc010enf.1	+	8	761	c.719T>C	c.(718-720)GTG>GCG	p.V240A	PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.V216A|PRMT1_uc002ppe.2_Missense_Mutation_p.V222A|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.V187A|PRMT1_uc010yba.1_RNA|PRMT1_uc010ybb.1_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	221						cytoplasm	protein methyltransferase activity			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;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GTGGATGTCGTGGACCCCAAA	0.592											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PRMT1	3276	broad.mit.edu	37	19	50189419	50189419	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:50189419C>T	uc010enf.1	+	9	871	c.829C>T	c.(829-831)CGG>TGG	p.R277W	PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.R253W|PRMT1_uc002ppe.2_Missense_Mutation_p.R259W|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.R224W|PRMT1_uc010yba.1_RNA|PRMT1_uc010ybb.1_5'Flank|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	258						cytoplasm	protein methyltransferase activity			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;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GCAAGTGAAGCGGAATGACTA	0.602												
ACPT	93650	broad.mit.edu	37	19	51298304	51298304	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:51298304A>G	uc002pta.1	+	11	1170	c.1170A>G	c.(1168-1170)CCA>CCG	p.P390P		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	390	Extracellular (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGCAGCTCCAGTGGTGCCCC	0.687												
SIGLEC9	27180	broad.mit.edu	37	19	51628959	51628959	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:51628959C>A	uc002pvu.2	+	2	594	c.527C>A	c.(526-528)CCT>CAT	p.P176H	SIGLEC9_uc010yct.1_Missense_Mutation_p.P176H	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	176	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGGACACCCCCTATGATCTCC	0.667												
IGLON5	402665	broad.mit.edu	37	19	51826934	51826934	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:51826934C>T	uc002pwc.2	+	3	177	c.177C>T	c.(175-177)CAC>CAT	p.H59H		NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN	IgLON family member 5 precursor	59	Ig-like C2-type 1.					extracellular region					0						TCGACGAGCACGTGACCCGCG	0.652												
SIGLEC12	89858	broad.mit.edu	37	19	52004970	52004970	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:52004970T>C	uc002pwx.1	-	1	74	c.18A>G	c.(16-18)CTA>CTG	p.L6L	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	6					cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		gtggcagcagtagcagcagca	0.453												
ZNF321	399669	broad.mit.edu	37	19	53432346	53432346	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:53432346T>G	uc010eqj.2	-	4	634	c.464A>C	c.(463-465)CAG>CCG	p.Q155P	ZNF321_uc002qaj.1_Missense_Mutation_p.Q102P|ZNF321_uc002qak.1_Missense_Mutation_p.Q155P	NM_203307	NP_976052			zinc finger protein 321												0				GBM - Glioblastoma multiforme(134;0.0305)		CCATTCAGGCTGAAATATGTG	0.403												
CNOT3	4849	broad.mit.edu	37	19	54652128	54652128	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:54652128C>A	uc002qdj.1	+	11	1451	c.1140C>A	c.(1138-1140)CCC>CCA	p.P380P	CNOT3_uc010yel.1_Silent_p.P380P|CNOT3_uc002qdi.2_Silent_p.P293P|CNOT3_uc002qdk.1_Silent_p.P380P|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	380	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACCAGCTCCCAGTGGGCCCA	0.532												
LILRA4	23547	broad.mit.edu	37	19	54848404	54848404	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:54848404A>G	uc002qfj.2	-	6	1020	c.963T>C	c.(961-963)TCT>TCC	p.S321S	LILRA4_uc002qfi.2_Silent_p.S255S	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	321	Extracellular (Potential).					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AGGGTCTGTCAGAGATCTGTC	0.607												
LILRB4	11006	broad.mit.edu	37	19	55179347	55179347	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:55179347G>A	uc002qgp.2	+	12	1586	c.1224G>A	c.(1222-1224)CAG>CAA	p.Q408Q	LILRB4_uc002qgq.2_Silent_p.Q407Q|LILRB4_uc002qgr.2_Silent_p.Q450Q|LILRB4_uc010ert.2_Silent_p.Q449Q|LILRB4_uc010eru.2_Silent_p.Q438Q	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	408	Cytoplasmic (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)		AAGCCCCCCAGGATGTGACCT	0.642												
TMEM190	147744	broad.mit.edu	37	19	55889086	55889086	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:55889086G>A	uc002qkt.1	+	3	238	c.220G>A	c.(220-222)GAA>AAA	p.E74K		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	transmembrane protein 190 precursor	74	Extracellular (Potential).					integral to membrane					0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCGTCCAGACGGTGAGGGCTC	0.682												
ZSCAN5A	79149	broad.mit.edu	37	19	56736258	56736258	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:56736258G>A	uc002qmq.2	-	2	324	c.158C>T	c.(157-159)CCG>CTG	p.P53L	ZSCAN5A_uc010ygi.1_Intron|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.P53L|ZSCAN5A_uc002qms.1_Missense_Mutation_p.P53L	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	53	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						CGACTCCTTCGGGCAGCTGAA	0.552												
ZNF667	63934	broad.mit.edu	37	19	56953952	56953952	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:56953952G>A	uc002qnd.2	-	5	574	c.412C>T	c.(412-414)CAT>TAT	p.H138Y	ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.H138Y|ZNF667_uc010etm.2_Missense_Mutation_p.H81Y	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTCCCTGAATGCCCTTTCTTA	0.398												
ZNF71	58491	broad.mit.edu	37	19	57133564	57133564	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:57133564C>T	uc002qnm.3	+	3	1147	c.909C>T	c.(907-909)TGC>TGT	p.C303C		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	303	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCAAGGAGTGCGGCAAGGCCT	0.662												
ZNF71	58491	broad.mit.edu	37	19	57133847	57133847	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:57133847A>G	uc002qnm.3	+	3	1430	c.1192A>G	c.(1192-1194)ATC>GTC	p.I398V		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	398	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTCGTCCCTCATCGTGCACCA	0.632												
ZNF835	90485	broad.mit.edu	37	19	57176308	57176308	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:57176308C>A	uc010ygo.1	-	2	325	c.325G>T	c.(325-327)GGG>TGG	p.G109W	ZNF835_uc010ygn.1_Missense_Mutation_p.G87W	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						GGGCTCTCCCCAGGCGCGCTG	0.642												
PEG3	5178	broad.mit.edu	37	19	57328006	57328006	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:57328006G>A	uc002qnu.2	-	7	2155	c.1804C>T	c.(1804-1806)CGT>TGT	p.R602C	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R573C|PEG3_uc002qnv.2_Missense_Mutation_p.R602C|PEG3_uc002qnw.2_Missense_Mutation_p.R478C|PEG3_uc002qnx.2_Missense_Mutation_p.R476C|PEG3_uc010etr.2_Missense_Mutation_p.R602C	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	602					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCGCGCtcacgttcacgttca	0.378												
ZNF749	388567	broad.mit.edu	37	19	57956100	57956100	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:57956100G>A	uc002qoq.2	+	3	1838	c.1584G>A	c.(1582-1584)CAG>CAA	p.Q528Q	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	528	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ACCTAGTTCAGCATGAGAAAA	0.453												
ZNF419	79744	broad.mit.edu	37	19	58005254	58005254	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:58005254G>A	uc002qov.2	+	5	1569	c.1329G>A	c.(1327-1329)ATG>ATA	p.M443I	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.M444I|ZNF419_uc010etz.1_Missense_Mutation_p.M431I|ZNF419_uc010eua.1_Missense_Mutation_p.M430I|ZNF419_uc002qow.2_Missense_Mutation_p.M411I|ZNF419_uc010eub.1_Missense_Mutation_p.M398I|ZNF419_uc010euc.1_Missense_Mutation_p.M397I	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	443	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)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CAACCCTCATGCAACATCGAA	0.423												
ZNF549	256051	broad.mit.edu	37	19	58048899	58048899	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:58048899C>A	uc002qpb.1	+	4	776	c.527C>A	c.(526-528)CCT>CAT	p.P176H	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.P163H	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	176					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)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCAAAATTCCTCTGTCAGAC	0.473												
ZNF417	147687	broad.mit.edu	37	19	58420052	58420052	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:58420052A>G	uc002qqq.2	-	3	1793	c.1594T>C	c.(1594-1596)TGT>CGT	p.C532R	ZNF417_uc010yhm.1_Missense_Mutation_p.C489R|ZNF417_uc002qqr.2_Missense_Mutation_p.C531R	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	532	C2H2-type 12.				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;0.0151)		AGACTGGAACATTCAGCAAAG	0.398												
ZNF132	7691	broad.mit.edu	37	19	58946192	58946192	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:58946192G>T	uc002qst.3	-	3	1020	c.619C>A	c.(619-621)CTC>ATC	p.L207I		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	207						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		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;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		AGCTGGAGGAGGTCACAGCTG	0.527												
TRIM28	10155	broad.mit.edu	37	19	59058826	59058826	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:59058826T>C	uc002qtg.1	+	4	959	c.670T>C	c.(670-672)TGT>CGT	p.C224R	TRIM28_uc010eut.1_Missense_Mutation_p.C142R|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	224	RBCC domain.|B box-type 2.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTGTGAGAGCTGTGATACTCT	0.567												
TPO	7173	broad.mit.edu	37	2	1418179	1418179	+	Splice_Site	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:1418179G>T	uc002qww.2	+	2	91	c.0_splice	c.e2-1		TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Splice_Site|TPO_uc002qwu.2_Splice_Site|TPO_uc002qwr.2_Splice_Site|TPO_uc002qwx.2_Splice_Site|TPO_uc010yio.1_5'Flank|TPO_uc010yip.1_5'Flank	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a						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)	GTTAATTTTAGAATGAGAGCG	0.532												
MYT1L	23040	broad.mit.edu	37	2	1890322	1890322	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:1890322G>T	uc002qxe.2	-	18	3527	c.2700C>A	c.(2698-2700)TCC>TCA	p.S900S	MYT1L_uc002qxd.2_Silent_p.S898S|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	900					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGAGTTCTTGGGAGCTGGTGG	0.433												
COLEC11	78989	broad.mit.edu	37	2	3691067	3691067	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:3691067C>A	uc002qya.2	+	6	510	c.362C>A	c.(361-363)GCC>GAC	p.A121D	COLEC11_uc002qxz.2_Missense_Mutation_p.A118D|COLEC11_uc002qyb.2_Missense_Mutation_p.A97D|COLEC11_uc002qyc.2_Missense_Mutation_p.A97D|COLEC11_uc010ewo.2_Missense_Mutation_p.A73D|COLEC11_uc010ewp.2_Missense_Mutation_p.A95D|COLEC11_uc010ewq.2_Missense_Mutation_p.A71D|COLEC11_uc010ewr.2_Missense_Mutation_p.A71D|COLEC11_uc010ews.2_Missense_Mutation_p.A47D	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	collectin sub-family member 11 isoform a	121	Potential.					collagen	mannose binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CTGCGCAAGGCCATCGGGGAG	0.637												
NBAS	51594	broad.mit.edu	37	2	15415814	15415814	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:15415814T>C	uc002rcc.1	-	44	5544	c.5518A>G	c.(5518-5520)ATG>GTG	p.M1840V	NBAS_uc010exl.1_Missense_Mutation_p.M912V|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1840										ovary(2)|liver(1)|skin(1)	4						GGGGAAAGCATCTGTCCATCC	0.443												
NBAS	51594	broad.mit.edu	37	2	15601418	15601418	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:15601418C>T	uc002rcc.1	-	21	2272	c.2246G>A	c.(2245-2247)GGT>GAT	p.G749D	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	749										ovary(2)|liver(1)|skin(1)	4						CAGGTCGGAACCATGGTAAGT	0.418												
RAD51AP2	729475	broad.mit.edu	37	2	17698684	17698684	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:17698684T>C	uc002rcl.1	-	1	1023	c.999A>G	c.(997-999)TCA>TCG	p.S333S	RAD51AP2_uc010exn.1_Silent_p.S324S	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	333										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCTACTGAGTGATGGGTAGT	0.323												
OSR1	130497	broad.mit.edu	37	2	19552979	19552979	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:19552979C>T	uc002rdc.2	-	2	891	c.588G>A	c.(586-588)ACG>ACA	p.T196T		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	odd-skipped related 1	196	C2H2-type 1.				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CGTCGGTGTGCGTCCGCTCAT	0.592												
C2orf39	92749	broad.mit.edu	37	2	26671649	26671649	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:26671649T>C	uc002rhg.2	+	11	1561	c.1487T>C	c.(1486-1488)CTG>CCG	p.L496P		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749	496											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGGATCCTGATGCTCCTG	0.597												
OTOF	9381	broad.mit.edu	37	2	26683839	26683839	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:26683839T>C	uc002rhk.2	-	44	5720	c.5593A>G	c.(5593-5595)ACC>GCC	p.T1865A	OTOF_uc010yla.1_Missense_Mutation_p.T595A|OTOF_uc002rhh.2_Missense_Mutation_p.T1098A|OTOF_uc002rhi.2_Missense_Mutation_p.T1175A|OTOF_uc002rhj.2_Missense_Mutation_p.T1098A	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1865	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)					ATCTCCATGGTGCACTGCTTG	0.632												
OTOF	9381	broad.mit.edu	37	2	26693574	26693574	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:26693574C>T	uc002rhk.2	-	32	4037	c.3910G>A	c.(3910-3912)GAG>AAG	p.E1304K	OTOF_uc010yla.1_Missense_Mutation_p.E34K|OTOF_uc002rhh.2_Missense_Mutation_p.E537K|OTOF_uc002rhi.2_Missense_Mutation_p.E614K|OTOF_uc002rhj.2_Missense_Mutation_p.E537K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1304	Cytoplasmic (Potential).|Poly-Lys.				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)					ttcttcttctccttctcctcc	0.512												
OTOF	9381	broad.mit.edu	37	2	26696067	26696067	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:26696067G>A	uc002rhk.2	-	29	3793	c.3666C>T	c.(3664-3666)GCC>GCT	p.A1222A	OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Silent_p.A475A|OTOF_uc002rhi.2_Silent_p.A532A|OTOF_uc002rhj.2_Silent_p.A475A	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1222	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)					GGGAGCTGACGGCATGGGAGC	0.672												
C2orf53	339779	broad.mit.edu	37	2	27361028	27361028	+	Missense_Mutation	SNP	C	C	T	rs149337790		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:27361028C>T	uc002rjb.2	-	3	750	c.170G>A	c.(169-171)CGT>CAT	p.R57H		NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	hypothetical protein LOC339779	57	Pro-rich.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGGACGACGGGACTGAGT	0.562												
CAD	790	broad.mit.edu	37	2	27459279	27459279	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:27459279G>T	uc002rji.2	+	26	4364	c.4202G>T	c.(4201-4203)GGG>GTG	p.G1401V	CAD_uc010eyw.2_Missense_Mutation_p.G1338V	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1401	CPSase B.|CPSase (Carbamoyl-phosphate synthase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CGTGGAGCTGGGGGCCGGCGT	0.572												
UCN	7349	broad.mit.edu	37	2	27530432	27530432	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:27530432C>T	uc002rjp.1	-	2	448	c.332G>A	c.(331-333)CGC>CAC	p.R111H		NM_003353	NP_003344	P55089	UCN1_HUMAN	urocortin preproprotein	111						extracellular region	neuropeptide hormone activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCTCGGCGCGCTCCCGCTG	0.652												
IFT172	26160	broad.mit.edu	37	2	27684208	27684208	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:27684208C>A	uc002rku.2	-	22	2421	c.2370G>T	c.(2368-2370)GAG>GAT	p.E790D		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	790					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CTAGCAGTTCCTCTCGGGTCA	0.562												
GALNT14	79623	broad.mit.edu	37	2	31215790	31215790	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:31215790G>A	uc002rnr.2	-	2	832	c.213C>T	c.(211-213)GAC>GAT	p.D71D	GALNT14_uc002rnq.2_Silent_p.D51D|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Silent_p.D36D|GALNT14_uc010ezo.1_Silent_p.D71D|GALNT14_uc010ezp.1_Silent_p.D42D	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	71	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					TATAGGGGTCGTCACCAACGC	0.577												
VIT	5212	broad.mit.edu	37	2	37008909	37008909	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:37008909A>G	uc002rpl.2	+	10	1063	c.842A>G	c.(841-843)GAT>GGT	p.D281G	VIT_uc002rpm.2_Intron|VIT_uc010ezv.2_Intron|VIT_uc010ezw.2_Intron	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				GTCCTTTTAGATGAAGGTAAT	0.433												
CEBPZ	10153	broad.mit.edu	37	2	37450518	37450518	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:37450518G>A	uc002rpz.2	-	3	1706	c.1676C>T	c.(1675-1677)ACG>ATG	p.T559M		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	559					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				CTTGGAACACGTCATCAACCC	0.393												
SLC3A1	6519	broad.mit.edu	37	2	44539884	44539884	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:44539884T>C	uc002ruc.3	+	8	1570	c.1492T>C	c.(1492-1494)TAT>CAT	p.Y498H	SLC3A1_uc002rtz.2_Missense_Mutation_p.Y498H|SLC3A1_uc002rua.2_Missense_Mutation_p.Y498H|SLC3A1_uc002rub.2_Missense_Mutation_p.Y498H|SLC3A1_uc002rud.3_Missense_Mutation_p.Y220H|SLC3A1_uc002rue.3_Missense_Mutation_p.Y118H	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	498	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CAATGAAAGCTATGATATTGT	0.333												
EPAS1	2034	broad.mit.edu	37	2	46611727	46611727	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:46611727C>T	uc002ruv.2	+	16	3029	c.2541C>T	c.(2539-2541)AAC>AAT	p.N847N	EPAS1_uc002ruw.2_Silent_p.N313N	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	847	CTAD.			N -> K (in Ref. 2; AAC51212).	angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTGAGGTGAACGTGCCCGTGC	0.622												
FBXO11	80204	broad.mit.edu	37	2	48050427	48050427	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:48050427T>C	uc010fbl.2	-	12	1333	c.1219A>G	c.(1219-1221)ACA>GCA	p.T407A	FBXO11_uc002rwe.2_Missense_Mutation_p.T407A|FBXO11_uc002rwf.2_Missense_Mutation_p.T407A|FBXO11_uc002rwg.1_Missense_Mutation_p.T407A|FBXO11_uc010fbk.2_5'UTR	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	491	PbH1 5.				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)			CGAACCACTGTAGGGTTAGCA	0.358												
KLRAQ1	129285	broad.mit.edu	37	2	48701860	48701860	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:48701860C>T	uc002rwm.2	+	12	1312	c.1127C>T	c.(1126-1128)GCG>GTG	p.A376V	KLRAQ1_uc002rwj.2_Missense_Mutation_p.A376V|KLRAQ1_uc002rwl.2_Missense_Mutation_p.A330V|KLRAQ1_uc002rwk.2_Missense_Mutation_p.A376V|KLRAQ1_uc010yok.1_Missense_Mutation_p.A376V	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	376										ovary(1)	1						TGCACATCTGCGTTAAGAGCC	0.413												
PSME4	23198	broad.mit.edu	37	2	54127128	54127128	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:54127128C>T	uc002rxp.2	-	29	3368	c.3312G>A	c.(3310-3312)GCG>GCA	p.A1104A	PSME4_uc010yop.1_Silent_p.A990A|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.A479A|PSME4_uc010fbv.1_Silent_p.A248A	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	1104					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAAGTAATTCCGCTATTTCAA	0.274												
PSME4	23198	broad.mit.edu	37	2	54150493	54150493	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:54150493G>A	uc002rxp.2	-	15	1929	c.1873C>T	c.(1873-1875)CGC>TGC	p.R625C	PSME4_uc010yop.1_Missense_Mutation_p.R511C|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	625					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCCACCATGCGACCTGCTACT	0.338												
REL	5966	broad.mit.edu	37	2	61118941	61118941	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:61118941G>A	uc002sam.1	+	2	358	c.134G>A	c.(133-135)CGA>CAA	p.R45Q	REL_uc002san.1_Missense_Mutation_p.R45Q	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	45	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GACAACAACCGAACATACCCT	0.433			A		Hodgkin Lymphoma							
PROKR1	10887	broad.mit.edu	37	2	68882559	68882559	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:68882559G>A	uc010yqj.1	+	2	1033	c.1033G>A	c.(1033-1035)GTC>ATC	p.V345I	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	345	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						CTTCGTGACCGTCAAGAACGA	0.502												
ADD2	119	broad.mit.edu	37	2	70923451	70923451	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:70923451G>A	uc002sgz.2	-	5	865	c.400C>T	c.(400-402)CGG>TGG	p.R134W	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.R134W|ADD2_uc002sha.2_Missense_Mutation_p.R134W|ADD2_uc002sgx.2_Missense_Mutation_p.R134W|ADD2_uc010fdt.1_Missense_Mutation_p.R134W|ADD2_uc002shc.1_Missense_Mutation_p.R134W|ADD2_uc002shd.1_Missense_Mutation_p.R134W|ADD2_uc010fdu.1_Missense_Mutation_p.R150W	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	134					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						ATCTTGCACCGCATGAGCCGC	0.572												
NAT8	9027	broad.mit.edu	37	2	73868563	73868563	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:73868563C>T	uc002sji.1	-	2	360	c.193G>A	c.(193-195)GTG>ATG	p.V65M		NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8	65	Helical; (Potential).|N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			ovary(1)	1						ATGCTGAACACGAGGGCTAGA	0.552												
LBX2	85474	broad.mit.edu	37	2	74725186	74725186	+	Silent	SNP	G	G	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:74725186G>C	uc002slv.3	-	2	470	c.465C>G	c.(463-465)CGC>CGG	p.R155R	LBX2_uc002slw.2_Silent_p.R151R	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	155						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGGACAACGCGCGTAGCGAGG	0.697												
LOXL3	84695	broad.mit.edu	37	2	74777345	74777345	+	Silent	SNP	G	G	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:74777345G>C	uc002smp.1	-	3	516	c.444C>G	c.(442-444)CGC>CGG	p.R148R	LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Silent_p.R148R|LOXL3_uc002smq.1_Silent_p.R148R|LOXL3_uc010ffn.1_Silent_p.R148R|DOK1_uc002smr.2_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	148						extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						AGCCAGGGAGGCGCTGGTCTT	0.567												
CTNNA2	1496	broad.mit.edu	37	2	80101333	80101333	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:80101333C>T	uc010ysh.1	+	5	722	c.717C>T	c.(715-717)AAC>AAT	p.N239N	CTNNA2_uc010yse.1_Silent_p.N239N|CTNNA2_uc010ysf.1_Silent_p.N239N|CTNNA2_uc010ysg.1_Silent_p.N239N	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	239					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						CGAGAGCCAACCGAGATTATG	0.592												
CTNNA2	1496	broad.mit.edu	37	2	80801404	80801404	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:80801404G>A	uc010ysh.1	+	12	1863	c.1858G>A	c.(1858-1860)GTT>ATT	p.V620I	CTNNA2_uc010yse.1_Missense_Mutation_p.V620I|CTNNA2_uc010ysf.1_Missense_Mutation_p.V620I|CTNNA2_uc010ysg.1_Missense_Mutation_p.V620I|CTNNA2_uc010ysi.1_Missense_Mutation_p.V252I	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	620					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						GTATGATGGCGTTCGGGACAT	0.502												
PROM2	150696	broad.mit.edu	37	2	95952569	95952569	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:95952569C>T	uc002suh.1	+	18	2191	c.2058C>T	c.(2056-2058)AGC>AGT	p.S686S	PROM2_uc002sui.2_Silent_p.S686S|PROM2_uc002suj.2_Silent_p.S340S|PROM2_uc002suk.2_Silent_p.S686S|PROM2_uc002sul.2_Silent_p.S212S|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	686	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						TCAACCTCAGCGTCAGGGCCC	0.448												
CIAO1	9391	broad.mit.edu	37	2	96936850	96936850	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:96936850T>C	uc002svs.2	+	7	986	c.781T>C	c.(781-783)TGT>CGT	p.C261R		NM_004804	NP_004795	O76071	CIAO1_HUMAN	WD repeat domain 39	261	WD 6.				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding				0						TCCTTCCAGGTGTCAGCTGAC	0.557												
REV1	51455	broad.mit.edu	37	2	100055712	100055712	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:100055712A>G	uc002tad.2	-	6	776	c.564T>C	c.(562-564)AGT>AGC	p.S188S	REV1_uc002tac.2_Silent_p.S188S|REV1_uc002tae.1_Silent_p.S167S	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	188					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						CTTCATTCCAACTGTTCATGC	0.373								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
IL18R1	8809	broad.mit.edu	37	2	102984300	102984300	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:102984300G>A	uc002tbw.3	+	3	224	c.74G>A	c.(73-75)CGT>CAT	p.R25H	IL18R1_uc010ywb.1_Missense_Mutation_p.R25H|IL18R1_uc010ywc.1_Missense_Mutation_p.R25H|IL18R1_uc010ywd.1_Intron|IL18R1_uc010fiy.2_Missense_Mutation_p.R25H	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	25	Extracellular (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3						TGTACTTCACGTCCCCACATT	0.353												
SLC9A4	389015	broad.mit.edu	37	2	103136407	103136407	+	Missense_Mutation	SNP	G	G	A	rs144537340		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:103136407G>A	uc002tbz.3	+	9	2268	c.1811G>A	c.(1810-1812)CGG>CAG	p.R604Q		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	604	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						TACCAAGTTCGGCAAAGGGTG	0.468												
POU3F3	5455	broad.mit.edu	37	2	105473227	105473227	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:105473227C>T	uc010ywg.1	+	1	1259	c.1259C>T	c.(1258-1260)GCG>GTG	p.A420V		NM_006236	NP_006227	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	420	Homeobox.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			ovary(1)	1						GTCAAGGGCGCGCTGGAGAGC	0.662												
RANBP2	5903	broad.mit.edu	37	2	109381510	109381510	+	Silent	SNP	G	G	A	rs140837223		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:109381510G>A	uc002tem.3	+	20	4641	c.4515G>A	c.(4513-4515)CCG>CCA	p.P1505P		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1505	RanBP2-type 3.				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						GTCAGAATCCGAGAAAACAGA	0.403												
POLR1B	84172	broad.mit.edu	37	2	113332867	113332867	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:113332867C>T	uc002thw.2	+	15	3549	c.2969C>T	c.(2968-2970)GCA>GTA	p.A990V	POLR1B_uc010fkn.2_Missense_Mutation_p.A934V|POLR1B_uc002thx.2_Missense_Mutation_p.A851V|POLR1B_uc010fko.2_Missense_Mutation_p.A807V|POLR1B_uc010fkp.2_Missense_Mutation_p.A429V|POLR1B_uc010yxn.1_Missense_Mutation_p.A1028V|POLR1B_uc002thy.2_Missense_Mutation_p.A851V|POLR1B_uc010yxo.1_Missense_Mutation_p.A767V	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	990					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						GAACTGGAAGCAGACATCTTC	0.458												
PAX8	7849	broad.mit.edu	37	2	114004377	114004377	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:114004377G>A	uc010yxt.1	-	3	311	c.145C>T	c.(145-147)CGC>TGC	p.R49C	PAX8_uc010yxu.1_Missense_Mutation_p.R49C|PAX8_uc010yxv.1_Missense_Mutation_p.R49C|PAX8_uc002tjm.2_Missense_Mutation_p.R49C|PAX8_uc002tjn.2_Missense_Mutation_p.R49C|PAX8_uc010fku.1_Missense_Mutation_p.R49C|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	paired box 8 isoform PAX8A	49	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity			ovary(1)|lung(1)	2						CGGAGCTGGCGAGAGATGTCG	0.637			T	PPARG	follicular thyroid		Thyroid dysgenesis 					
MARCO	8685	broad.mit.edu	37	2	119727888	119727888	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:119727888G>A	uc002tln.1	+	3	530	c.398G>A	c.(397-399)CGG>CAG	p.R133Q	MARCO_uc010yyf.1_Missense_Mutation_p.R55Q	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	133	Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						TTGCTGCAGCGGGTAGACAAC	0.602												
STEAP3	55240	broad.mit.edu	37	2	120020715	120020715	+	Missense_Mutation	SNP	G	G	A	rs144758696	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:120020715G>A	uc002tlp.2	+	6	1425	c.1268G>A	c.(1267-1269)CGC>CAC	p.R423H	STEAP3_uc002tlq.2_Missense_Mutation_p.R433H|STEAP3_uc002tlr.2_Missense_Mutation_p.R423H|STEAP3_uc010fle.2_3'UTR	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	423	Vesicular (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						GAGGAGAGCCGCTACAAGTTC	0.622												
MYO7B	4648	broad.mit.edu	37	2	128366301	128366301	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:128366301G>A	uc002top.2	+	22	2715	c.2662G>A	c.(2662-2664)GCC>ACC	p.A888T		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	888						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)		GGTCATCCCGGCCGAGGGGCA	0.652												
WDR33	55339	broad.mit.edu	37	2	128520648	128520648	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:128520648T>A	uc002tpg.1	-	7	895	c.712A>T	c.(712-714)AGA>TGA	p.R238*	WDR33_uc002tph.1_Nonsense_Mutation_p.R238*	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	238	WD 3.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CGGAGAATTCTTTCCTCATGG	0.393												
SAP130	79595	broad.mit.edu	37	2	128757640	128757640	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:128757640C>T	uc002tpp.2	-	9	1308	c.1176G>A	c.(1174-1176)GCG>GCA	p.A392A	SAP130_uc002tpn.2_Silent_p.A153A|SAP130_uc002tpo.2_Silent_p.A137A|SAP130_uc010fmd.2_Silent_p.A392A|SAP130_uc002tpq.1_Silent_p.A365A	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	392					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CAGCTGTGGTCGCTGAAGGAA	0.493												
SMPD4	55627	broad.mit.edu	37	2	130911877	130911877	+	Silent	SNP	C	C	T	rs2599983		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:130911877C>T	uc002tqq.1	-	16	2269	c.1749G>A	c.(1747-1749)CCG>CCA	p.P583P	SMPD4_uc002tqo.1_Silent_p.P115P|SMPD4_uc002tqp.1_Silent_p.P322P|SMPD4_uc010yzy.1_Silent_p.P332P|SMPD4_uc010yzz.1_Silent_p.P247P|SMPD4_uc002tqr.1_Silent_p.P554P|SMPD4_uc002tqs.1_Silent_p.P451P|SMPD4_uc002tqt.1_Silent_p.P432P|SMPD4_uc010zaa.1_Silent_p.P441P|SMPD4_uc010zab.1_Silent_p.P481P|SMPD4_uc010zac.1_Silent_p.P324P|SMPD4_uc010zad.1_Silent_p.P219P	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	544					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCCCAAACATCGGGGTGTACT	0.652												
TUBA3E	112714	broad.mit.edu	37	2	130951527	130951527	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:130951527G>A	uc002tqv.2	-	4	989	c.888C>T	c.(886-888)TTC>TTT	p.F296F		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	296					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					TGGCTGGCTCGAAGCAGGCAT	0.597												
PTPN18	26469	broad.mit.edu	37	2	131130796	131130796	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:131130796A>G	uc002trc.2	+	15	1483	c.1382A>G	c.(1381-1383)TAA>TGA	p.*461*	PTPN18_uc002trd.2_Intron|PTPN18_uc002trb.2_Silent_p.*354*|PTPN18_uc002tre.2_Silent_p.*112*	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	461						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)					ACCCGGGTGTAAGTCTAACGC	0.637												
CFC1B	653275	broad.mit.edu	37	2	131356243	131356243	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:131356243C>T	uc002tro.1	-	3	610	c.219G>A	c.(217-219)CCG>CCA	p.P73P		NM_001079530	NP_001072998	P0CG36	CFC1B_HUMAN	cripto, FRL-1, cryptic family 1B	73					gastrulation	extracellular region					0	Colorectal(110;0.1)					AGTAGGGGAGCGGCTCCTCCG	0.622												
TUBA3D	113457	broad.mit.edu	37	2	132237951	132237951	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:132237951C>T	uc002tsu.3	+	4	792	c.685C>T	c.(685-687)CGC>TGC	p.R229C		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	229					'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)		CAACCTCAATCGCCTGATTGG	0.527												
NCKAP5	344148	broad.mit.edu	37	2	133538706	133538706	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:133538706G>A	uc002ttp.2	-	15	5342	c.4968C>T	c.(4966-4968)ATC>ATT	p.I1656I	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1656							protein binding				0						TAGAGCTGCCGATGAGACAGG	0.458												
LRP1B	53353	broad.mit.edu	37	2	141751585	141751585	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:141751585C>T	uc002tvj.1	-	16	3595	c.2623G>A	c.(2623-2625)GAT>AAT	p.D875N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	875	Extracellular (Potential).|LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAATCCTCATCGCTTCCGTCT	0.433										TSP Lung(27;0.18)		
NEB	4703	broad.mit.edu	37	2	152394412	152394412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:152394412G>A	uc010fnx.2	-	112	16164	c.15973C>T	c.(15973-15975)CGA>TGA	p.R5325*	NEB_uc002txr.2_Nonsense_Mutation_p.R1748*	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5325	Nebulin 145.				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)		GTGACTGCTCGGTGGTGGAAA	0.393												
CACNB4	785	broad.mit.edu	37	2	152732944	152732944	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:152732944C>T	uc002tya.2	-	5	585	c.517G>A	c.(517-519)GGA>AGA	p.G173R	CACNB4_uc002txy.2_Missense_Mutation_p.G139R|CACNB4_uc002txz.2_Missense_Mutation_p.G155R|CACNB4_uc010fnz.2_Missense_Mutation_p.G173R|CACNB4_uc002tyb.2_Missense_Mutation_p.G139R	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	173					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ACGTACCCTCCGTGAAAACGT	0.403												
ACVR1C	130399	broad.mit.edu	37	2	158395174	158395174	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:158395174G>A	uc002tzk.3	-	8	1510	c.1267C>T	c.(1267-1269)CCT>TCT	p.P423S	ACVR1C_uc002tzl.3_Missense_Mutation_p.P343S|ACVR1C_uc010fof.2_Missense_Mutation_p.P266S|ACVR1C_uc010foe.2_Missense_Mutation_p.P373S	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	423	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						GGATCTGAAGGCACCATGTCA	0.373												
UPP2	151531	broad.mit.edu	37	2	158974403	158974403	+	Missense_Mutation	SNP	G	G	A	rs148283386	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:158974403G>A	uc002tzp.2	+	4	601	c.407G>A	c.(406-408)CGG>CAG	p.R136Q	UPP2_uc002tzo.2_Missense_Mutation_p.R193Q	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	136					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0						CACCATGCACGGTGCTGCGAT	0.428												
ITGB6	3694	broad.mit.edu	37	2	161052032	161052032	+	Silent	SNP	G	G	A	rs61758144		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:161052032G>A	uc002ubh.2	-	4	457	c.441C>T	c.(439-441)GAC>GAT	p.D147D	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.D147D|ITGB6_uc010zcq.1_Silent_p.D105D|ITGB6_uc010fov.1_Silent_p.D147D	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	147	Extracellular (Potential).|VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						TGTTGAGGTCGTCATCCATGG	0.512												
CSRNP3	80034	broad.mit.edu	37	2	166536156	166536156	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:166536156A>G	uc002udf.2	+	7	2027	c.1651A>G	c.(1651-1653)AGT>GGT	p.S551G	CSRNP3_uc002udg.2_Missense_Mutation_p.S551G	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	551					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						GAATGGTGACAGTCACATTTC	0.448												
XIRP2	129446	broad.mit.edu	37	2	168101881	168101881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:168101881C>T	uc002udx.2	+	8	3997	c.3979C>T	c.(3979-3981)CGA>TGA	p.R1327*	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.R1152*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.R1105*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1152					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AATTCAAGACCGAGAAGGGTC	0.398												
XIRP2	129446	broad.mit.edu	37	2	168102837	168102837	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:168102837T>C	uc002udx.2	+	8	4953	c.4935T>C	c.(4933-4935)ACT>ACC	p.T1645T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T1470T|XIRP2_uc010fpq.2_Silent_p.T1423T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1470					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						ACAGATCAACTGAATTTCATG	0.323												
GORASP2	26003	broad.mit.edu	37	2	171822431	171822431	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:171822431C>T	uc002ugk.2	+	10	1290	c.1150C>T	c.(1150-1152)CTG>TTG	p.L384L	GORASP2_uc002ugj.2_Silent_p.L316L|GORASP2_uc010zdl.1_Silent_p.L396L|GORASP2_uc010zdm.1_Silent_p.L340L|GORASP2_uc002ugl.2_Silent_p.L316L|GORASP2_uc002ugm.2_Silent_p.L166L	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	384						Golgi membrane				breast(1)|central_nervous_system(1)	2						AGGAGAGCTGCTGTCTTCCCT	0.607												
KIAA1715	80856	broad.mit.edu	37	2	176857133	176857133	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:176857133A>G	uc002ukc.1	-	4	276	c.83T>C	c.(82-84)TTG>TCG	p.L28S	KIAA1715_uc010zer.1_Missense_Mutation_p.L28S|KIAA1715_uc010fqw.1_Missense_Mutation_p.L94S|KIAA1715_uc010zes.1_Intron|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc010zet.1_RNA	NM_030650	NP_085153	Q9C0E8	LNP_HUMAN	Lunapark	28	Potential.|Cytoplasmic (Potential).					integral to membrane	protein binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AAATTCTTCCAATGCTTGAAT	0.259												
HOXD1	3231	broad.mit.edu	37	2	177053568	177053568	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:177053568C>T	uc002ukv.3	+	1	262	c.39C>T	c.(37-39)AGC>AGT	p.S13S	HOXD1_uc010fqy.2_Silent_p.S13S|HOXD1_uc010zez.1_Silent_p.S13S	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	homeobox D1	13						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		GCAGCAGCAGCGGCGGGGTCG	0.716												
OSBPL6	114880	broad.mit.edu	37	2	179214012	179214012	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179214012C>T	uc002ulx.2	+	12	1427	c.1049C>T	c.(1048-1050)GCA>GTA	p.A350V	OSBPL6_uc002ulw.2_Missense_Mutation_p.A319V|OSBPL6_uc002uly.2_Missense_Mutation_p.A375V|OSBPL6_uc010zfe.1_Missense_Mutation_p.A319V|OSBPL6_uc002ulz.2_Missense_Mutation_p.A350V|OSBPL6_uc002uma.2_Missense_Mutation_p.A354V	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	350				A -> V (in Ref. 4; BAG62123).	lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AACCTTTGTGCAGATATTGAA	0.438												
TTN	7273	broad.mit.edu	37	2	179409151	179409151	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179409151G>A	uc010zfg.1	-	294	88325	c.88101C>T	c.(88099-88101)TAC>TAT	p.Y29367Y	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Y23062Y|TTN_uc010zfi.1_Silent_p.Y22995Y|TTN_uc010zfj.1_Silent_p.Y22870Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30294							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)			TACCACCATCGTACATGGGTT	0.443												
TTN	7273	broad.mit.edu	37	2	179410269	179410269	+	Silent	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179410269A>C	uc010zfg.1	-	293	88088	c.87864T>G	c.(87862-87864)CGT>CGG	p.R29288R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R22983R|TTN_uc010zfi.1_Silent_p.R22916R|TTN_uc010zfj.1_Silent_p.R22791R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30215							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)			CTTTGTTGACACGTGTCCAGC	0.483												
TTN	7273	broad.mit.edu	37	2	179410765	179410765	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179410765T>C	uc010zfg.1	-	292	87718	c.87494A>G	c.(87493-87495)CAG>CGG	p.Q29165R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q22860R|TTN_uc010zfi.1_Missense_Mutation_p.Q22793R|TTN_uc010zfj.1_Missense_Mutation_p.Q22668R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30092							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)			TCCGTCTTCCTGCGGAAGGCT	0.527												
TTN	7273	broad.mit.edu	37	2	179413514	179413514	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179413514T>C	uc010zfg.1	-	288	85359	c.85135A>G	c.(85135-85137)ATT>GTT	p.I28379V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I22074V|TTN_uc010zfi.1_Missense_Mutation_p.I22007V|TTN_uc010zfj.1_Missense_Mutation_p.I21882V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29306							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)			TGGTAGGCAATGAAGAGGCGA	0.463												
TTN	7273	broad.mit.edu	37	2	179414314	179414314	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179414314A>G	uc010zfg.1	-	287	84655	c.84431T>C	c.(84430-84432)GTT>GCT	p.V28144A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V21839A|TTN_uc010zfi.1_Missense_Mutation_p.V21772A|TTN_uc010zfj.1_Missense_Mutation_p.V21647A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29071							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)			TATTTGAGCAACCACTGGATC	0.373												
TTN	7273	broad.mit.edu	37	2	179433561	179433561	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179433561T>C	uc010zfg.1	-	275	69818	c.69594A>G	c.(69592-69594)GAA>GAG	p.E23198E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.E16893E|TTN_uc010zfi.1_Silent_p.E16826E|TTN_uc010zfj.1_Silent_p.E16701E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24125							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)			TAAAAAGATATTCTTCCCCTT	0.418												
TTN	7273	broad.mit.edu	37	2	179466820	179466820	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179466820C>T	uc010zfg.1	-	233	47698	c.47474G>A	c.(47473-47475)GGC>GAC	p.G15825D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G9520D|TTN_uc010zfi.1_Missense_Mutation_p.G9453D|TTN_uc010zfj.1_Missense_Mutation_p.G9328D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16752							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)			AATCTGTGAGCCAGCTTTACA	0.408												
TTN	7273	broad.mit.edu	37	2	179566903	179566903	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179566903G>A	uc010zfg.1	-	105	26995	c.26771C>T	c.(26770-26772)ACG>ATG	p.T8924M	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T5585M|TTN_uc010fre.1_Missense_Mutation_p.T35M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9851							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)			ACCTTTCGTCGTTAGGTACAG	0.458												
TTN	7273	broad.mit.edu	37	2	179650794	179650794	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179650794G>T	uc010zfg.1	-	14	2375	c.2151C>A	c.(2149-2151)CCC>CCA	p.P717P	TTN_uc010zfh.1_Silent_p.P671P|TTN_uc010zfi.1_Silent_p.P671P|TTN_uc010zfj.1_Silent_p.P671P|TTN_uc002unb.2_Silent_p.P717P|TTN_uc010frg.1_Silent_p.P299P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	717							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)			CAGGCTCTCTGGGCTCTCTGA	0.517												
TTN	7273	broad.mit.edu	37	2	179666974	179666974	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179666974G>A	uc002und.2	-	3	411	c.186C>T	c.(184-186)CGC>CGT	p.R62R	TTN_uc010zfg.1_Silent_p.R62R|TTN_uc010zfh.1_Silent_p.R62R|TTN_uc010zfi.1_Silent_p.R62R|TTN_uc010zfj.1_Silent_p.R62R|TTN_uc002unb.2_Silent_p.R62R			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	62							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)			TCAGTTTAGCGCGGCCATCGC	0.542												
CCDC141	285025	broad.mit.edu	37	2	179734013	179734013	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179734013T>C	uc002unf.1	-	5	557	c.500A>G	c.(499-501)CAG>CGG	p.Q167R		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	167							protein binding	p.Q167R(1)		ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATAATGTACTGAACCTCATC	0.328												
ITGA4	3676	broad.mit.edu	37	2	182322503	182322503	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:182322503C>T	uc002unu.2	+	1	885	c.122C>T	c.(121-123)GCG>GTG	p.A41V	ITGA4_uc002unt.2_Missense_Mutation_p.A41V|ITGA4_uc010zfl.1_Missense_Mutation_p.A41V	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	41	FG-GAP 1.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACTGAGAGCGCGCTGCTTTAC	0.677												
ITGA4	3676	broad.mit.edu	37	2	182360664	182360664	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:182360664G>T	uc002unu.2	+	14	2303	c.1540G>T	c.(1540-1542)GTT>TTT	p.V514F	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	514	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGGTTACATTGGTGGGTATGC	0.438												
ZNF804A	91752	broad.mit.edu	37	2	185802533	185802533	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:185802533G>A	uc002uph.2	+	4	3004	c.2410G>A	c.(2410-2412)GCT>ACT	p.A804T		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	804						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TACTTCAGTTGCTCCCTGCAA	0.383												
ITGAV	3685	broad.mit.edu	37	2	187523819	187523819	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:187523819C>T	uc002upq.2	+	18	2050	c.1774C>T	c.(1774-1776)CGG>TGG	p.R592W	ITGAV_uc010frs.2_Missense_Mutation_p.R556W|ITGAV_uc010zfv.1_Missense_Mutation_p.R546W	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	592	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TATGGAATATCGGTTGGATTA	0.368												
GULP1	51454	broad.mit.edu	37	2	189348173	189348173	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:189348173A>G	uc010fru.2	+	4	505	c.44A>G	c.(43-45)CAT>CGT	p.H15R	GULP1_uc002uqc.3_Missense_Mutation_p.H15R|GULP1_uc002uqd.2_Missense_Mutation_p.H15R|GULP1_uc010zfw.1_Missense_Mutation_p.H15R|GULP1_uc002uqe.2_Missense_Mutation_p.H15R|GULP1_uc002uqf.2_Missense_Mutation_p.H15R|GULP1_uc002uqg.2_Missense_Mutation_p.H15R	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing	15					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			ACATGGATGCATACACCTGAA	0.274												
SLC40A1	30061	broad.mit.edu	37	2	190430308	190430308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:190430308G>A	uc002uqp.3	-	6	883	c.532C>T	c.(532-534)CGA>TGA	p.R178*		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	178					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TCAATCCTTCGTATTGTGGCA	0.463												
SDPR	8436	broad.mit.edu	37	2	192700907	192700907	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:192700907C>T	uc002utb.2	-	2	1350	c.1020G>A	c.(1018-1020)GCG>GCA	p.A340A		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	340						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGGCGAGGGACGCTTCGGAAT	0.567												
SDPR	8436	broad.mit.edu	37	2	192711619	192711619	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:192711619G>A	uc002utb.2	-	1	363	c.33C>T	c.(31-33)TTC>TTT	p.F11F		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	11						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CAGGGTGCTGGAACTTTTCGG	0.612												
CCDC150	284992	broad.mit.edu	37	2	197597197	197597197	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:197597197T>C	uc002utp.1	+	28	3352	c.3217T>C	c.(3217-3219)TCC>CCC	p.S1073P	CCDC150_uc010zgs.1_Missense_Mutation_p.S720P	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1073											0						TGATGTCATGTCCAACCAATC	0.443												
C2orf66	401027	broad.mit.edu	37	2	197672223	197672223	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:197672223C>T	uc002utv.2	-	2	1187	c.298G>A	c.(298-300)GCA>ACA	p.A100T		NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN	hypothetical protein LOC401027 precursor	100						extracellular region					0						TCTGCAGATGCAGAAGCAGTA	0.408												
RFTN2	130132	broad.mit.edu	37	2	198498533	198498533	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:198498533G>A	uc002uuo.3	-	4	1029	c.627C>T	c.(625-627)AGC>AGT	p.S209S		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	209						plasma membrane					0						CCTCAATTCCGCTTTCAGATG	0.413												
FAM126B	285172	broad.mit.edu	37	2	201846041	201846041	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:201846041C>T	uc002uws.3	-	12	1733	c.1545G>A	c.(1543-1545)AAG>AAA	p.K515K	FAM126B_uc002uwu.2_Silent_p.K489K|FAM126B_uc002uwv.2_Silent_p.K515K	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	515						intracellular				ovary(1)	1						ATCGAGACTGCTTGGTCAAGG	0.473												
ABI2	10152	broad.mit.edu	37	2	204267367	204267367	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:204267367T>A	uc002vaa.2	+	9	1337	c.1102T>A	c.(1102-1104)TCG>ACG	p.S368T	ABI2_uc002uzz.2_Missense_Mutation_p.S301T|ABI2_uc010zih.1_Missense_Mutation_p.S16T|ABI2_uc010zii.1_Missense_Mutation_p.S362T|ABI2_uc010zij.1_Missense_Mutation_p.S245T|ABI2_uc002vab.2_Missense_Mutation_p.S256T|ABI2_uc010zik.1_Missense_Mutation_p.S93T|ABI2_uc010zil.1_Missense_Mutation_p.S203T|ABI2_uc010zim.1_Missense_Mutation_p.S154T|ABI2_uc002vac.2_Missense_Mutation_p.S154T|ABI2_uc010zin.1_Missense_Mutation_p.S16T	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	368	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0						AATAGGGGGCTCGTTGCCCTA	0.443												
ZDBF2	57683	broad.mit.edu	37	2	207169506	207169506	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:207169506C>A	uc002vbp.2	+	5	504	c.254C>A	c.(253-255)GCT>GAT	p.A85D		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	85							nucleic acid binding|zinc ion binding			ovary(3)	3						TTGGATGATGCTTTTTCTGAA	0.423												
ADAM23	8745	broad.mit.edu	37	2	207436508	207436508	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:207436508G>A	uc002vbq.2	+	17	1847	c.1624G>A	c.(1624-1626)GAC>AAC	p.D542N	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	542	Disintegrin.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCACTGCAGCGACGGGCCCTG	0.443												
PTH2R	5746	broad.mit.edu	37	2	209308074	209308074	+	Nonsense_Mutation	SNP	C	C	T	rs149710383		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:209308074C>T	uc002vdb.2	+	6	724	c.511C>T	c.(511-513)CGA>TGA	p.R171*	PTH2R_uc010zjb.1_Nonsense_Mutation_p.R182*	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	171	Cytoplasmic (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCTCCGTAGACGATTGCATTG	0.433												
VWC2L	402117	broad.mit.edu	37	2	215279080	215279080	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:215279080G>A	uc002vet.2	+	2	293	c.163G>A	c.(163-165)GAT>AAT	p.D55N	VWC2L_uc010zjl.1_Missense_Mutation_p.D55N	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain-containing	55	VWFC 1.					extracellular region					0						AGGGTGTGTCGATGACAGCGG	0.473												
ABCA12	26154	broad.mit.edu	37	2	215843555	215843555	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:215843555G>A	uc002vew.2	-	32	5170	c.4950C>T	c.(4948-4950)TAC>TAT	p.Y1650Y	ABCA12_uc002vev.2_Silent_p.Y1332Y|ABCA12_uc010zjn.1_Silent_p.Y577Y	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1650					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGAAATGCCGTAGCACCCGA	0.458												
TNS1	7145	broad.mit.edu	37	2	218713378	218713378	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:218713378C>T	uc002vgt.2	-	17	1885	c.1487G>A	c.(1486-1488)CGG>CAG	p.R496Q	TNS1_uc002vgr.2_Missense_Mutation_p.R496Q|TNS1_uc002vgs.2_Missense_Mutation_p.R496Q|TNS1_uc010zjv.1_Missense_Mutation_p.R496Q|TNS1_uc010fvj.1_Missense_Mutation_p.R564Q|TNS1_uc010fvk.1_Missense_Mutation_p.R621Q|TNS1_uc010fvi.1_Missense_Mutation_p.R183Q	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	496						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)		GTCTGTCTCCCGCTCAGATGC	0.617												
CXCR1	3577	broad.mit.edu	37	2	219029505	219029505	+	Missense_Mutation	SNP	G	G	A	rs111741549	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:219029505G>A	uc002vhc.2	-	2	549	c.430C>T	c.(430-432)CGC>TGC	p.R144C		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	144	Cytoplasmic (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						GTCAGTGTGCGTGTGGCATGG	0.542												
PNKD	25953	broad.mit.edu	37	2	219209550	219209550	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:219209550A>G	uc002vhn.2	+	10	1148	c.1004A>G	c.(1003-1005)GAG>GGG	p.E335G	PNKD_uc002vhq.2_Missense_Mutation_p.E311G	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	myofibrillogenesis regulator 1 isoform 1	335						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCTGGGAGAGGAGCGCTCC	0.642												
SLC11A1	6556	broad.mit.edu	37	2	219251369	219251369	+	Silent	SNP	C	C	T	rs145880987		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:219251369C>T	uc002vhv.2	+	5	745	c.405C>T	c.(403-405)ACC>ACT	p.T135T	SLC11A1_uc010zkb.1_Missense_Mutation_p.P160L|SLC11A1_uc010fvp.1_Silent_p.T135T|SLC11A1_uc010fvq.1_Silent_p.T68T|SLC11A1_uc010zkc.1_Silent_p.T68T|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.2_Silent_p.T17T|SLC11A1_uc010fvr.2_5'UTR	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	135	Cytoplasmic (Potential).				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			ovary(3)|central_nervous_system(1)	4		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCCCGCACCGTCCTCTGGC	0.552												
VIL1	7429	broad.mit.edu	37	2	219295597	219295597	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:219295597C>T	uc002via.2	+	10	1163	c.1098C>T	c.(1096-1098)TCC>TCT	p.S366S	VIL1_uc010zke.1_Silent_p.S55S|VIL1_uc002vib.2_Silent_p.S366S|VIL1_uc002vic.1_Silent_p.S366S	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	366	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGGGCTCCGTGGGTGAGG	0.642												
ZNF142	7701	broad.mit.edu	37	2	219509452	219509452	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:219509452T>C	uc002vin.2	-	8	2223	c.1787A>G	c.(1786-1788)CAT>CGT	p.H596R	ZNF142_uc002vil.2_Missense_Mutation_p.H557R|ZNF142_uc010fvt.2_Missense_Mutation_p.H433R|ZNF142_uc002vim.2_Missense_Mutation_p.H433R	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	596	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TACATAGCCATGGGCCTTGCG	0.597												
CCDC108	255101	broad.mit.edu	37	2	219868992	219868992	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:219868992G>A	uc002vjl.1	-	33	5321	c.5237C>T	c.(5236-5238)CCG>CTG	p.P1746L	uc010fvz.1_5'Flank|MIR375_hsa-mir-375|MI0000783_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1746						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCTTCCTTCGGCTGCTTGCC	0.368												
OBSL1	23363	broad.mit.edu	37	2	220416499	220416499	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:220416499C>T	uc010fwk.2	-	20	5492	c.5435G>A	c.(5434-5436)CGC>CAC	p.R1812H	hsa-mir-3132|MI0014152_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1812	Ig-like 14.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGGGGGTGGCGGCACATCTG	0.682												
OBSL1	23363	broad.mit.edu	37	2	220432923	220432923	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:220432923C>T	uc010fwk.2	-	2	1193	c.1136G>A	c.(1135-1137)CGG>CAG	p.R379Q	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.R379Q|OBSL1_uc002vmj.2_5'UTR	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	379	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGGCAGCAGCCGCTGGTCCTC	0.627											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
DOCK10	55619	broad.mit.edu	37	2	225638013	225638013	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:225638013G>A	uc010fwz.1	-	53	6304	c.6065C>T	c.(6064-6066)TCG>TTG	p.S2022L	DOCK10_uc002vob.2_Missense_Mutation_p.S2016L|DOCK10_uc002voa.2_Missense_Mutation_p.S678L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2022	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTCTGTGCTCGATTGGCTAAT	0.423												
SP140	11262	broad.mit.edu	37	2	231120198	231120198	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:231120198T>C	uc002vql.2	+	12	1306	c.1191T>C	c.(1189-1191)GAT>GAC	p.D397D	SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Silent_p.D363D|SP140_uc002vqn.2_Silent_p.D283D|SP140_uc002vqm.2_Silent_p.D337D|SP140_uc010fxl.2_Intron	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	397					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAATGTGTGATGGAGAAGAGC	0.527												
HDAC4	9759	broad.mit.edu	37	2	240078381	240078381	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:240078381C>T	uc002vyk.3	-	7	1492	c.700G>A	c.(700-702)GAC>AAC	p.D234N	HDAC4_uc010fyz.1_Missense_Mutation_p.D229N|HDAC4_uc010zoa.1_Missense_Mutation_p.D229N|HDAC4_uc010fza.2_Missense_Mutation_p.D234N|HDAC4_uc010fyy.2_Missense_Mutation_p.D186N|HDAC4_uc010znz.1_Missense_Mutation_p.D117N|HDAC4_uc010fzb.1_5'Flank	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	234	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)		TCTTTGGCGTCGTACATTCCC	0.592												
OR6B3	150681	broad.mit.edu	37	2	240984767	240984767	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:240984767G>A	uc010zoe.1	-	1	723	c.723C>T	c.(721-723)TGC>TGT	p.C241C	PRR21_uc010zod.1_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGTGAGAGGCGCAGGTGAAGA	0.587												
PASK	23178	broad.mit.edu	37	2	242047655	242047655	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:242047655A>G	uc002wao.1	-	16	3686	c.3594T>C	c.(3592-3594)TTT>TTC	p.F1198F	PASK_uc010zol.1_Silent_p.F1012F|PASK_uc010zom.1_Silent_p.F1163F|PASK_uc010fzl.1_Silent_p.F1205F|PASK_uc010zon.1_Silent_p.F979F	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1198	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGTTCTCCTCAAAGACCAGCG	0.597												
ANO7	50636	broad.mit.edu	37	2	242128052	242128052	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:242128052C>T	uc002wax.2	+	1	129	c.26C>T	c.(25-27)GCG>GTG	p.A9V	ANO7_uc002waw.2_Missense_Mutation_p.A9V	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	9	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						ACTGCCTGGGCGGGGCTCCAA	0.682												
TMC2	117532	broad.mit.edu	37	20	2616615	2616615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:2616615C>T	uc002wgf.1	+	18	2365	c.2350C>T	c.(2350-2352)CGA>TGA	p.R784*	TMC2_uc002wgg.1_Nonsense_Mutation_p.R768*	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	784	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						AAGCCTTTCCCGAGCTAATGC	0.453												
PTPRA	5786	broad.mit.edu	37	20	3018724	3018724	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:3018724A>G	uc010zqd.1	+	23	2704	c.2387A>G	c.(2386-2388)TAC>TGC	p.Y796C	PTPRA_uc002whj.2_Missense_Mutation_p.Y785C|PTPRA_uc002whk.2_Missense_Mutation_p.Y776C|PTPRA_uc002whl.2_Missense_Mutation_p.Y776C|PTPRA_uc002whm.2_Missense_Mutation_p.Y552C|PTPRA_uc002whn.2_Missense_Mutation_p.Y776C|PTPRA_uc002who.2_Missense_Mutation_p.Y448C	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	785	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						GAGTTCTGCTACAAGGTGGTG	0.423												
FERMT1	55612	broad.mit.edu	37	20	6096601	6096601	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:6096601C>G	uc002wmr.2	-	3	1031	c.242G>C	c.(241-243)GGG>GCG	p.G81A	FERMT1_uc010gbt.2_5'UTR|FERMT1_uc002wms.2_Missense_Mutation_p.G81A	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	kindlin-1	81					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			ovary(1)|pancreas(1)|skin(1)	3						TGCCTGGACCCCATATTTGTC	0.488												
SEL1L2	80343	broad.mit.edu	37	20	13847354	13847354	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:13847354A>G	uc010gcf.2	-	15	1480	c.1398T>C	c.(1396-1398)GCT>GCC	p.A466A	SEL1L2_uc002woq.3_Silent_p.A327A|SEL1L2_uc010zrl.1_Silent_p.A466A|SEL1L2_uc002wor.2_RNA	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	466	Extracellular (Potential).|Sel1-like 9.					integral to membrane	binding			ovary(2)	2						TTACCTCCACAGCAGTTCTGC	0.398												
FLRT3	23767	broad.mit.edu	37	20	14306860	14306860	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:14306860T>C	uc002wov.1	-	3	1760	c.1293A>G	c.(1291-1293)CTA>CTG	p.L431L	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.L431L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	431	Extracellular (Potential).|Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGTCATAGGTAGAGCAAGTT	0.438												
KIF16B	55614	broad.mit.edu	37	20	16488665	16488665	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:16488665C>A	uc002wpg.1	-	7	795	c.637G>T	c.(637-639)GCG>TCG	p.A213S	KIF16B_uc010gch.1_Missense_Mutation_p.A213S|KIF16B_uc010gci.1_Missense_Mutation_p.A213S|KIF16B_uc010gcj.1_Missense_Mutation_p.A213S	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	213	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						ATCCCAGTCGCTGCGGTGGTC	0.488												
OTOR	56914	broad.mit.edu	37	20	16729553	16729553	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:16729553C>A	uc002wpj.2	+	2	201	c.157C>A	c.(157-159)CCG>ACG	p.P53T	OTOR_uc002wpk.2_5'Flank	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor	53	SH3.				sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2						TTATAATGCCCCGGACTGTAG	0.358												
RRBP1	6238	broad.mit.edu	37	20	17614161	17614161	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:17614161G>A	uc002wpv.1	-	9	1609	c.1255C>T	c.(1255-1257)CGG>TGG	p.R419W	RRBP1_uc002wpu.2_Missense_Mutation_p.R193W|RRBP1_uc002wpw.1_Missense_Mutation_p.R419W|RRBP1_uc010gcl.1_Missense_Mutation_p.R193W|RRBP1_uc010gcm.1_Silent_p.S4S	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	852	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						AGAGCTTTCCGCTGCTGCTCA	0.622												
ZNF133	7692	broad.mit.edu	37	20	18297204	18297204	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:18297204G>A	uc010gcq.2	+	5	2014	c.1709G>A	c.(1708-1710)CGG>CAG	p.R570Q	ZNF133_uc010zrv.1_Missense_Mutation_p.R573Q|ZNF133_uc010zrw.1_Missense_Mutation_p.R507Q|ZNF133_uc010gcr.2_Missense_Mutation_p.R570Q|ZNF133_uc010zrx.1_Missense_Mutation_p.R475Q|ZNF133_uc002wql.3_Missense_Mutation_p.R569Q|ZNF133_uc010gcs.2_Missense_Mutation_p.R569Q|ZNF133_uc010zry.1_Missense_Mutation_p.R475Q|ZNF133_uc002wqm.2_Missense_Mutation_p.R570Q	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	570	C2H2-type 13.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						ACACACAAGCGGGCTCACTCG	0.527												
RBBP9	10741	broad.mit.edu	37	20	18477806	18477806	+	Silent	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:18477806A>C	uc002wqy.2	-	1	82	c.6T>G	c.(4-6)GCT>GCG	p.A2A		NM_006606	NP_006597	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	2				A -> V (in Ref. 1; AAC63498).		cytoplasm|nucleus	hydrolase activity			haematopoietic_and_lymphoid_tissue(1)	1						TGCTAGGAGAAGCCATGAGTG	0.652												
SSTR4	6754	broad.mit.edu	37	20	23016551	23016551	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:23016551G>A	uc002wsr.2	+	1	495	c.431G>A	c.(430-432)CGC>CAC	p.R144H		NM_001052	NP_001043	P31391	SSR4_HUMAN	somatostatin receptor 4	144	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			ovary(1)	1	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCGTGGACCGCTACGTGGCC	0.682												
THBD	7056	broad.mit.edu	37	20	23029062	23029062	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:23029062G>A	uc002wss.2	-	1	1240	c.1080C>T	c.(1078-1080)GGC>GGT	p.G360G	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Silent_p.G301G	NM_000361	NP_000352	P07204	TRBM_HUMAN	thrombomodulin precursor	360	EGF-like 3; calcium-binding (Potential).|Extracellular (Potential).				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity				0	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	CCACACACTCGCCGTCCACCA	0.617												
GZF1	64412	broad.mit.edu	37	20	23346139	23346139	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:23346139C>T	uc010gdb.2	+	3	1293	c.1119C>T	c.(1117-1119)AGC>AGT	p.S373S	GZF1_uc002wsy.2_Silent_p.S373S|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Silent_p.S373S	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	373					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)					TGCACAGCAGCGAGCGCCATT	0.667												
GZF1	64412	broad.mit.edu	37	20	23350333	23350333	+	Silent	SNP	C	C	T	rs145353404		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:23350333C>T	uc010gdb.2	+	6	1914	c.1740C>T	c.(1738-1740)TGC>TGT	p.C580C	GZF1_uc002wsy.2_Silent_p.C580C|GZF1_uc010zsq.1_Silent_p.C104C|GZF1_uc010zsr.1_Silent_p.C89C|GZF1_uc002wsz.2_Silent_p.C580C	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	580	C2H2-type 10.				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)					GCAATGCGTGCGGACGGACAT	0.587												
NINL	22981	broad.mit.edu	37	20	25481580	25481580	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:25481580G>A	uc002wux.1	-	8	1002	c.928C>T	c.(928-930)CGC>TGC	p.R310C	NINL_uc010gdn.1_Missense_Mutation_p.R310C|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Missense_Mutation_p.R326C	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	310					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GAGAAGAGGCGCAGGCTGGAG	0.592												
MYLK2	85366	broad.mit.edu	37	20	30408301	30408301	+	Missense_Mutation	SNP	G	G	C	rs56385445		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:30408301G>C	uc002wwq.2	+	3	527	c.425G>C	c.(424-426)GGC>GCC	p.G142A		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	142					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCCAGGAGGGGCTCACCTGCC	0.627												
HCK	3055	broad.mit.edu	37	20	30689272	30689272	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:30689272C>T	uc002wxh.2	+	13	1702	c.1531C>T	c.(1531-1533)CTG>TTG	p.L511L	HCK_uc010gdy.2_Silent_p.L490L|HCK_uc002wxi.2_Silent_p.L489L	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	511	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCAGAGTGTGCTGGATGACTT	0.602												
ASXL1	171023	broad.mit.edu	37	20	31021647	31021647	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:31021647G>A	uc002wxs.2	+	11	2072	c.1646G>A	c.(1645-1647)CGT>CAT	p.R549H	ASXL1_uc010geb.2_Missense_Mutation_p.R440H	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	549					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CAGTCCTTTCGTAACACAATT	0.527			F|N|Mis		MDS|CMML							
ZNF341	84905	broad.mit.edu	37	20	32354674	32354674	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:32354674C>T	uc002wzy.2	+	9	1260	c.1240C>T	c.(1240-1242)CCG>TCG	p.P414S	ZNF341_uc002wzx.2_Missense_Mutation_p.P407S|ZNF341_uc010geq.2_Missense_Mutation_p.P324S|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CCAGCCCCTGCCGGGTGCGCC	0.637												
MYH7B	57644	broad.mit.edu	37	20	33582119	33582119	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:33582119C>T	uc002xbi.1	+	25	2833	c.2741C>T	c.(2740-2742)GCG>GTG	p.A914V		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	872	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCGCTGGCTGCGGCCGAGGCC	0.672												
MYH7B	57644	broad.mit.edu	37	20	33589767	33589767	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:33589767C>A	uc002xbi.1	+	42	5911	c.5819C>A	c.(5818-5820)ACC>AAC	p.T1940N		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1898	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGGCCAACACCAACCTGGCC	0.627												
NFS1	9054	broad.mit.edu	37	20	34286424	34286424	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:34286424A>G	uc002xdw.1	-	2	250	c.186T>C	c.(184-186)GAT>GAC	p.D62D	NFS1_uc002xdt.1_Silent_p.D2D|NFS1_uc002xdu.1_Silent_p.D2D|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_5'UTR|NFS1_uc010zvl.1_Silent_p.D62D|NFS1_uc002xdx.2_Silent_p.D62D|ROMO1_uc002xdy.2_5'Flank|ROMO1_uc010gfm.2_5'Flank	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	NFS1 nitrogen fixation 1 precursor	62					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TAGCTTGCACATCCATATAGA	0.522												
DLGAP4	22839	broad.mit.edu	37	20	35060240	35060240	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:35060240C>T	uc002xff.2	+	3	555	c.120C>T	c.(118-120)TTC>TTT	p.F40F	DLGAP4_uc010zvp.1_Silent_p.F40F	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	40					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGGAGGCCTTCGCCCGCGAGG	0.706												
DLGAP4	22839	broad.mit.edu	37	20	35128744	35128744	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:35128744G>A	uc002xff.2	+	10	2668	c.2233G>A	c.(2233-2235)GGT>AGT	p.G745S	DLGAP4_uc010zvp.1_Missense_Mutation_p.G745S|DLGAP4_uc002xfg.2_Missense_Mutation_p.G41S|DLGAP4_uc002xfh.2_Missense_Mutation_p.G209S|DLGAP4_uc002xfi.2_Missense_Mutation_p.G54S|DLGAP4_uc002xfj.2_Missense_Mutation_p.G41S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	748					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CATCGATGCCGGTCCCCGGCA	0.612												
NDRG3	57446	broad.mit.edu	37	20	35288785	35288785	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:35288785G>A	uc002xfw.2	-	13	895	c.813C>T	c.(811-813)GTC>GTT	p.V271V	NDRG3_uc002xfx.2_Silent_p.V259V|NDRG3_uc010zvq.1_Silent_p.V176V|NDRG3_uc010zvr.1_Silent_p.V159V	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	N-myc downstream regulated gene 3 isoform a	271					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)				AATTGCATTCGACCTAAAATT	0.353												
KIAA1755	85449	broad.mit.edu	37	20	36868110	36868110	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:36868110T>C	uc002xhy.1	-	4	1839	c.1567A>G	c.(1567-1569)AAA>GAA	p.K523E	KIAA1755_uc002xhz.1_Missense_Mutation_p.K523E	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	523										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)				CCAGATGTTTTGGTCTGAGTT	0.527												
DHX35	60625	broad.mit.edu	37	20	37634851	37634851	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:37634851C>T	uc002xjh.2	+	12	1085	c.1074C>T	c.(1072-1074)ATC>ATT	p.I358I	DHX35_uc010zwa.1_Silent_p.I203I|DHX35_uc010zwb.1_Silent_p.I203I|DHX35_uc010zwc.1_Silent_p.I327I	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	358	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				TGTATGTGATCGACTGTGGCT	0.483												
TTPAL	79183	broad.mit.edu	37	20	43109069	43109069	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:43109069G>A	uc002xmc.1	+	3	554	c.430G>A	c.(430-432)GTC>ATC	p.V144I	TTPAL_uc002xmd.1_Missense_Mutation_p.V144I|TTPAL_uc010ggr.1_Silent_p.S21S	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	144	CRAL-TRIO.					intracellular	transporter activity			breast(1)	1						CTGCCATGTCGTCTGCATCCG	0.557												
SERINC3	10955	broad.mit.edu	37	20	43129883	43129883	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:43129883C>T	uc002xme.2	-	9	1248	c.1114G>A	c.(1114-1116)GTC>ATC	p.V372I	SERINC3_uc002xmf.1_Missense_Mutation_p.V372I|SERINC3_uc010ggs.1_Missense_Mutation_p.V365I|SERINC3_uc010zwp.1_Missense_Mutation_p.V317I	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	372	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CCAAGGATGACGCTGTCACTC	0.517												
SEMG1	6406	broad.mit.edu	37	20	43836312	43836312	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:43836312G>T	uc002xni.2	+	2	431	c.374G>T	c.(373-375)AGG>ATG	p.R125M	SEMG1_uc002xnj.2_Missense_Mutation_p.R125M|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.R125M	NM_003007	NP_002998	P04279	SEMG1_HUMAN	semenogelin I preproprotein	125					insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(2)	2		Myeloproliferative disorder(115;0.0122)				CATTTTCACAGGGTAGTTATA	0.418												
ZSWIM3	140831	broad.mit.edu	37	20	44505588	44505588	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:44505588C>T	uc002xqd.2	+	2	594	c.391C>T	c.(391-393)CAG>TAG	p.Q131*	ZSWIM3_uc010zxg.1_Nonsense_Mutation_p.Q125*	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	131							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				CCAGCCTGTGCAGCCCACAAC	0.507												
EYA2	2139	broad.mit.edu	37	20	45618724	45618724	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:45618724T>C	uc002xsm.2	+	2	449	c.75T>C	c.(73-75)GCT>GCC	p.A25A	EYA2_uc010ghp.2_Silent_p.A25A|EYA2_uc002xsn.2_Silent_p.A30A|EYA2_uc002xso.2_Silent_p.A25A|EYA2_uc002xsp.2_Silent_p.A25A|EYA2_uc002xsq.2_Silent_p.A25A	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	25					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				TTAACCGTGCTGACGCTGCTG	0.478												
EYA2	2139	broad.mit.edu	37	20	45702897	45702897	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:45702897C>T	uc002xsm.2	+	7	958	c.584C>T	c.(583-585)TCG>TTG	p.S195L	EYA2_uc010ghp.2_Missense_Mutation_p.S195L|EYA2_uc002xsn.2_Missense_Mutation_p.S200L|EYA2_uc002xso.2_Missense_Mutation_p.S195L|EYA2_uc002xsp.2_Missense_Mutation_p.S195L|EYA2_uc002xsq.2_Missense_Mutation_p.S195L	NM_005244	NP_005235	O00167	EYA2_HUMAN	eyes absent 2 isoform a	195					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)				ATCTGCCCTTCGCCCCTCTCC	0.617												
ZMYND8	23613	broad.mit.edu	37	20	45850103	45850103	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:45850103C>T	uc002xta.1	-	20	3473	c.3219G>A	c.(3217-3219)GCG>GCA	p.A1073A	ZMYND8_uc010ghq.1_Silent_p.A704A|ZMYND8_uc010ghr.1_Silent_p.A975A|ZMYND8_uc002xst.1_Silent_p.A955A|ZMYND8_uc002xsu.1_Silent_p.A946A|ZMYND8_uc002xsv.1_Silent_p.A1001A|ZMYND8_uc002xsw.1_Silent_p.A779A|ZMYND8_uc002xsx.1_Silent_p.A779A|ZMYND8_uc002xsy.1_Silent_p.A1002A|ZMYND8_uc002xsz.1_Silent_p.A964A|ZMYND8_uc010zxy.1_Silent_p.A1100A|ZMYND8_uc002xtb.1_Silent_p.A1047A|ZMYND8_uc002xss.2_Silent_p.A1073A|ZMYND8_uc010zxz.1_Silent_p.A941A|ZMYND8_uc002xtc.1_Silent_p.A1047A|ZMYND8_uc002xtd.1_Silent_p.A1022A|ZMYND8_uc002xte.1_Silent_p.A1027A|ZMYND8_uc010zya.1_Silent_p.A1073A|ZMYND8_uc002xtf.1_Silent_p.A1093A|ZMYND8_uc002xsr.1_Silent_p.A172A	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	1073							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)			CCTCAGCATCCGCTTCCTGCT	0.532												
KCNB1	3745	broad.mit.edu	37	20	47991404	47991404	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:47991404G>A	uc002xur.1	-	2	857	c.693C>T	c.(691-693)CAC>CAT	p.H231H	KCNB1_uc002xus.1_Silent_p.H231H	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	231	Helical; Name=Segment S2; (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGGCCTCCACGTGGGCCAGCT	0.592												
BCAS1	8537	broad.mit.edu	37	20	52645510	52645510	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:52645510G>A	uc002xws.2	-	4	482	c.144C>T	c.(142-144)GTC>GTT	p.V48V	BCAS1_uc010zzb.1_5'UTR|BCAS1_uc010gim.2_5'UTR|BCAS1_uc002xwt.2_Silent_p.V48V|BCAS1_uc010gil.1_Silent_p.V48V|BCAS1_uc010zzc.1_5'UTR	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	48						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTCCCAAGTCGACTGTAAACA	0.443												
DOK5	55816	broad.mit.edu	37	20	53260110	53260110	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:53260110C>T	uc002xwy.2	+	7	1069	c.849C>T	c.(847-849)CGC>CGT	p.R283R	DOK5_uc010gin.2_Silent_p.R175R|DOK5_uc002xwz.2_Silent_p.R145R	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	283							insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			AGCTCTACCGCTTGCAAGGTA	0.667												
C20orf106	200232	broad.mit.edu	37	20	55100071	55100071	+	Silent	SNP	G	G	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:55100071G>C	uc002xxx.2	+	1	287	c.207G>C	c.(205-207)CCG>CCC	p.P69P	GCNT7_uc010zzg.1_Intron|C20orf107_uc010zzh.1_Silent_p.P69P	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	hypothetical protein LOC200232 precursor	69	Helical; (Potential).					integral to membrane					0			Colorectal(105;0.202)			TTGTTGTGCCGTTTGTGATAC	0.458												
RAB22A	57403	broad.mit.edu	37	20	56929305	56929305	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:56929305A>G	uc002xyz.2	+	6	733	c.471A>G	c.(469-471)GAA>GAG	p.E157E		NM_020673	NP_065724	Q9UL26	RB22A_HUMAN	RAS-related protein RAB-22A	157					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			ACATAAATGAACTCTTTATAG	0.398												
PPP1R3D	5509	broad.mit.edu	37	20	58514222	58514222	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:58514222G>A	uc002ybb.2	-	1	1131	c.765C>T	c.(763-765)TTC>TTT	p.F255F	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	255	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			AGCGCACCGCGAAGTGCACGC	0.672												
PPP1R3D	5509	broad.mit.edu	37	20	58514292	58514292	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:58514292G>A	uc002ybb.2	-	1	1061	c.695C>T	c.(694-696)ACG>ATG	p.T232M	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	232	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			AACGTCCTCCGTGCCCTCGGG	0.697												
CDH4	1002	broad.mit.edu	37	20	60504830	60504830	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:60504830C>T	uc002ybn.1	+	13	2183	c.2169C>T	c.(2167-2169)GGC>GGT	p.G723G	CDH4_uc002ybp.1_Silent_p.G649G	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	723	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCACCATTGGCGCAGTGGCAG	0.597												
COL9A3	1299	broad.mit.edu	37	20	61471962	61471962	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:61471962G>A	uc002ydm.2	+	32	1936	c.1933G>A	c.(1933-1935)GGA>AGA	p.G645R	COL9A3_uc002ydn.2_Missense_Mutation_p.G139R	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	645	Triple-helical region 1 (COL1).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					TGGGCCTCCCGGAGATCCTGG	0.677												
DIDO1	11083	broad.mit.edu	37	20	61541334	61541334	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:61541334T>C	uc002ydr.1	-	4	1142	c.878A>G	c.(877-879)CAT>CGT	p.H293R	DIDO1_uc002yds.1_Missense_Mutation_p.H293R|DIDO1_uc002ydt.1_Missense_Mutation_p.H293R|DIDO1_uc002ydu.1_Missense_Mutation_p.H293R|DIDO1_uc002ydv.1_Missense_Mutation_p.H293R|DIDO1_uc002ydw.1_Missense_Mutation_p.H293R|DIDO1_uc002ydx.1_Missense_Mutation_p.H293R|DIDO1_uc011aao.1_Missense_Mutation_p.H293R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	293	PHD-type.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					ACAATCGCCATGAAACCATTC	0.443												
BIRC7	79444	broad.mit.edu	37	20	61870887	61870887	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:61870887C>T	uc002yej.2	+	6	1000	c.827C>T	c.(826-828)GCC>GTC	p.A276V	BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.2_Missense_Mutation_p.A258V	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	livin inhibitor of apoptosis isoform alpha	276	RING-type.				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3	all_cancers(38;2.72e-09)					GCTGAGTGTGCCCCCGGCCTG	0.706												
RTEL1	51750	broad.mit.edu	37	20	62311267	62311267	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:62311267C>T	uc002yfu.1	+	13	1446	c.1103C>T	c.(1102-1104)TCG>TTG	p.S368L	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.S368L|RTEL1_uc011abd.1_Missense_Mutation_p.S392L|RTEL1_uc011abe.1_Missense_Mutation_p.S145L|RTEL1_uc002yfw.2_RNA	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	368					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			ATCCTGGACTCGCTGGACCAG	0.602												
ZGPAT	84619	broad.mit.edu	37	20	62366609	62366609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:62366609C>T	uc002ygk.2	+	6	1328	c.1150C>T	c.(1150-1152)CAG>TAG	p.Q384*	ZGPAT_uc002ygi.2_Nonsense_Mutation_p.Q364*|ZGPAT_uc002ygj.2_Nonsense_Mutation_p.Q364*|ZGPAT_uc010gkk.1_5'UTR|ZGPAT_uc010gkl.1_Nonsense_Mutation_p.Q364*|ZGPAT_uc002ygm.2_Nonsense_Mutation_p.Q355*|ZGPAT_uc002ygn.3_RNA|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	384					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCTGCAGAAGCAGACCAGGGT	0.657												
NCAM2	4685	broad.mit.edu	37	21	22696804	22696804	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:22696804G>A	uc002yld.1	+	6	970	c.721G>A	c.(721-723)GCC>ACC	p.A241T	NCAM2_uc011acb.1_Missense_Mutation_p.A99T|NCAM2_uc011acc.1_Missense_Mutation_p.A266T	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	241	Ig-like C2-type 3.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCCAGAACCCGCCATCTCCTG	0.493												
CCT8	10694	broad.mit.edu	37	21	30433672	30433672	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:30433672C>T	uc002ynb.2	-	13	1450	c.1351G>A	c.(1351-1353)GCA>ACA	p.A451T	CCT8_uc002ymz.2_Missense_Mutation_p.A67T|CCT8_uc011acp.1_Missense_Mutation_p.A432T|CCT8_uc002yna.2_Missense_Mutation_p.A400T|CCT8_uc002ync.2_Missense_Mutation_p.A450T|CCT8_uc010glm.2_Missense_Mutation_p.A392T|CCT8_uc011acq.1_Missense_Mutation_p.A378T	NM_006585	NP_006576	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	451					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding				0						TCTGCCAGTGCGCGGGGAATA	0.368												
KRTAP27-1	643812	broad.mit.edu	37	21	31709741	31709741	+	Silent	SNP	G	G	A	rs139729864		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:31709741G>A	uc002ynx.1	-	1	272	c.246C>T	c.(244-246)CCC>CCT	p.P82P		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	82						intermediate filament				ovary(2)	2						GGACAACTCCGGGGAAGCAGT	0.478												
SFRS15	57466	broad.mit.edu	37	21	33057745	33057745	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:33057745A>G	uc002ypd.2	-	18	2688	c.2262T>C	c.(2260-2262)CCT>CCC	p.P754P	SFRS15_uc002ype.2_Silent_p.P754P|SFRS15_uc010glu.2_Silent_p.P739P|SFRS15_uc002ypf.1_Silent_p.P428P	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	754						nucleus	nucleotide binding|RNA binding				0						TGTGAGGAGGAGGAATGGATA	0.448												
IFNGR2	3460	broad.mit.edu	37	21	34793838	34793838	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:34793838T>C	uc002yrp.3	+	3	906	c.258T>C	c.(256-258)TGT>TGC	p.C86C	IFNGR2_uc002yrq.3_Silent_p.C105C|IFNGR2_uc010gma.2_Silent_p.C7C|IFNGR2_uc002yrr.3_Silent_p.C7C	NM_005534	NP_005525	P38484	INGR2_HUMAN	interferon gamma receptor 2 precursor	86	Extracellular (Potential).|Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity				0					Interferon gamma-1b(DB00033)	GGGTGAATTGTACACAGATCA	0.488												
SON	6651	broad.mit.edu	37	21	34927110	34927110	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:34927110G>A	uc002yse.1	+	3	5622	c.5573G>A	c.(5572-5574)CGC>CAC	p.R1858H	SON_uc002ysb.1_Missense_Mutation_p.R1858H|SON_uc002ysc.2_Missense_Mutation_p.R1858H|SON_uc002ysd.2_Missense_Mutation_p.R849H|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.R849H	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1858					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						AAGTCTCATCGCTCTCAGACA	0.463												
KCNE1	3753	broad.mit.edu	37	21	35821548	35821548	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:35821548G>T	uc010gmp.2	-	2	815	c.385C>A	c.(385-387)CCA>ACA	p.P129T	KCNE1_uc002ytz.2_Missense_Mutation_p.P129T|KCNE1_uc010gmq.2_Missense_Mutation_p.P129T|KCNE1_uc010gmr.2_Missense_Mutation_p.P129T|KCNE1_uc010gms.2_Missense_Mutation_p.P129T|KCNE1_uc002yua.2_RNA	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related	129	Cytoplasmic (Potential).				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(2)	2					Indapamide(DB00808)	GGGGTTCATGGGGAAGGCTTC	0.507												
DOPEY2	9980	broad.mit.edu	37	21	37617519	37617519	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:37617519C>T	uc002yvg.2	+	19	3320	c.3241C>T	c.(3241-3243)CGA>TGA	p.R1081*	DOPEY2_uc011aeb.1_Nonsense_Mutation_p.R1030*|DOPEY2_uc002yvh.2_5'UTR	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1081					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						GTACCCGCTGCGAGGCGAGCT	0.642												
DOPEY2	9980	broad.mit.edu	37	21	37649359	37649359	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:37649359G>A	uc002yvg.2	+	28	5752	c.5673G>A	c.(5671-5673)CCG>CCA	p.P1891P	DOPEY2_uc011aeb.1_Silent_p.P1840P	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1891					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CATCCGCCCCGTCGGTGTACA	0.493												
PSMG1	8624	broad.mit.edu	37	21	40550521	40550521	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:40550521C>T	uc002yxi.2	-	5	638	c.509G>A	c.(508-510)CGA>CAA	p.R170Q	PSMG1_uc002yxj.2_Missense_Mutation_p.R149Q|PSMG1_uc010gob.2_Missense_Mutation_p.R83Q	NM_003720	NP_003711	O95456	PSMG1_HUMAN	Down syndrome critical region protein 2 isoform	170					proteasome assembly	endoplasmic reticulum	protein binding				0		Prostate(19;8.44e-08)				GGTAACATGTCGACATGTGAG	0.353												
PRDM15	63977	broad.mit.edu	37	21	43246337	43246337	+	Silent	SNP	G	G	A	rs139811499		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:43246337G>A	uc002yzq.1	-	20	2817	c.2706C>T	c.(2704-2706)TCC>TCT	p.S902S	PRDM15_uc002yzo.2_Silent_p.S573S|PRDM15_uc002yzp.2_Silent_p.S593S|PRDM15_uc002yzr.1_Silent_p.S593S	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	902	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCGGGCACCCGGAAGGCTCCT	0.557												
ABCG1	9619	broad.mit.edu	37	21	43702466	43702466	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:43702466G>A	uc002zaq.2	+	6	777	c.671G>A	c.(670-672)CGC>CAC	p.R224H	ABCG1_uc002zan.2_Missense_Mutation_p.R226H|ABCG1_uc002zam.2_Missense_Mutation_p.R202H|ABCG1_uc002zao.2_Missense_Mutation_p.R221H|ABCG1_uc002zap.2_Missense_Mutation_p.R224H|ABCG1_uc002zar.2_Missense_Mutation_p.R235H|ABCG1_uc011aev.1_Missense_Mutation_p.R235H	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	224	Cytoplasmic (Potential).|ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)	CAGCGCAAGCGCCTGGCCATC	0.617												
AGPAT3	56894	broad.mit.edu	37	21	45379596	45379596	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:45379596G>A	uc002zdv.2	+	3	256	c.34G>A	c.(34-36)GTG>ATG	p.V12M	AGPAT3_uc002zdw.2_Missense_Mutation_p.V12M|AGPAT3_uc002zdx.2_Missense_Mutation_p.V99M|AGPAT3_uc002zdy.2_Translation_Start_Site	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	12	Cytoplasmic (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GACCCAGTTCGTGCTGCACCT	0.642												
ICOSLG	23308	broad.mit.edu	37	21	45657004	45657004	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:45657004T>C	uc002zee.2	-	3	286	c.152A>G	c.(151-153)TAC>TGC	p.Y51C	ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Missense_Mutation_p.Y51C	NM_015259	NP_056074	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand precursor	51	Ig-like V-type.|Extracellular (Potential).				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding				0				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CCAATATACGTAAACATCATT	0.527												
KRTAP10-4	386672	broad.mit.edu	37	21	45994801	45994801	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:45994801C>G	uc002zfk.1	+	1	1196	c.1166C>G	c.(1165-1167)CCC>CGC	p.P389R	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	389	36 X 5 AA repeats of C-C-X(3).					keratin filament					0						TCCTGCCAACCCAGCTGCTGC	0.716												
ITGB2	3689	broad.mit.edu	37	21	46320286	46320286	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:46320286G>A	uc002zgd.2	-	6	890	c.846C>T	c.(844-846)AAC>AAT	p.N282N	ITGB2_uc002zge.2_Silent_p.N282N|ITGB2_uc002zgf.3_Silent_p.N282N|ITGB2_uc011afl.1_Silent_p.N204N|ITGB2_uc010gpw.2_Silent_p.N225N|ITGB2_uc002zgg.2_Silent_p.N282N	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	282	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGCGGCCGTCGTTGGGGGTCA	0.632												
DIP2A	23181	broad.mit.edu	37	21	47966903	47966903	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr21:47966903G>A	uc002zjo.2	+	21	2653	c.2470G>A	c.(2470-2472)GTT>ATT	p.V824I	DIP2A_uc011afy.1_Missense_Mutation_p.V760I|DIP2A_uc011afz.1_Missense_Mutation_p.V820I|DIP2A_uc002zjm.2_Missense_Mutation_p.V824I|DIP2A_uc010gql.2_Missense_Mutation_p.V781I|DIP2A_uc002zjn.2_Missense_Mutation_p.V824I|DIP2A_uc002zjq.2_Missense_Mutation_p.V216I	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	824					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGCAGATGACGTTGTGGCCAC	0.577												
TBX1	6899	broad.mit.edu	37	22	19752522	19752522	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:19752522C>T	uc002zqb.2	+	6	855	c.726C>T	c.(724-726)CAC>CAT	p.H242H	TBX1_uc002zqa.1_Silent_p.H242H|TBX1_uc002zqc.2_Silent_p.H242H	NM_080646	NP_542377	O43435	TBX1_HUMAN	T-box 1 isoform A	242	T-box.				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)	2	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCCGCTTCCACGTGGTCTATG	0.542												
PI4KA	5297	broad.mit.edu	37	22	21153546	21153546	+	Silent	SNP	G	G	A	rs143198544		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:21153546G>A	uc002zsz.3	-	16	1896	c.1665C>T	c.(1663-1665)CCC>CCT	p.P555P	PI4KA_uc010gsq.1_Silent_p.P613P	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	555					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-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)			TTGTGTGGTCGGGAATCAAGT	0.542												
LZTR1	8216	broad.mit.edu	37	22	21350083	21350083	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:21350083C>T	uc002zto.2	+	17	2094	c.1991C>T	c.(1990-1992)GCG>GTG	p.A664V	LZTR1_uc002ztn.2_Missense_Mutation_p.A623V|LZTR1_uc011ahy.1_Missense_Mutation_p.A645V|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	664					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGAGCGGGCGCGGAATTCTGT	0.642												
PRAME	23532	broad.mit.edu	37	22	22892728	22892728	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:22892728G>A	uc002zwf.2	-	4	529	c.373C>T	c.(373-375)CGG>TGG	p.R125W	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.R109W|PRAME_uc010gtr.2_Missense_Mutation_p.R125W|PRAME_uc002zwg.2_Missense_Mutation_p.R125W|PRAME_uc002zwh.2_Missense_Mutation_p.R125W|PRAME_uc002zwi.2_Missense_Mutation_p.R125W|PRAME_uc002zwj.2_Missense_Mutation_p.R125W|PRAME_uc002zwk.2_Missense_Mutation_p.R125W	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	125					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GAGTTCTTCCGTAAATCCAGC	0.448												
GNAZ	2781	broad.mit.edu	37	22	23438485	23438485	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:23438485C>T	uc002zwu.1	+	2	1140	c.603C>T	c.(601-603)GAC>GAT	p.D201D	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	201	GTP (By similarity).					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGATGGTGGACGTGGGGGGGC	0.572												
SLC2A11	66035	broad.mit.edu	37	22	24224957	24224957	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:24224957C>T	uc002zyn.3	+	8	984	c.885C>T	c.(883-885)TAC>TAT	p.Y295Y	SLC2A11_uc002zyl.1_Silent_p.Y302Y|SLC2A11_uc002zym.3_Silent_p.Y302Y|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Silent_p.Y302Y|SLC2A11_uc002zyp.3_Silent_p.Y298Y	NM_001024938	NP_001020109	Q9BYW1	GTR11_HUMAN	glucose transporter protein 10 isoform c	295	Extracellular (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity			ovary(1)	1						TGTACGCCTACGCCTCCTCCG	0.662												
UPB1	51733	broad.mit.edu	37	22	24896163	24896163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:24896163C>T	uc003aaf.2	+	2	314	c.193C>T	c.(193-195)CAG>TAG	p.Q65*	UPB1_uc003aae.2_Intron|UPB1_uc011ajt.1_Nonsense_Mutation_p.Q65*	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	beta-ureidopropionase	65					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			ovary(2)	2	Colorectal(2;0.0339)					AGCGGAGGAGCAGCTGAGACG	0.567												
SNRPD3	6634	broad.mit.edu	37	22	24953655	24953655	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:24953655G>A	uc003aam.1	+	2	453	c.13G>A	c.(13-15)GTG>ATG	p.V5M	C22orf13_uc003aah.2_5'Flank|C22orf13_uc003aal.2_5'Flank|C22orf13_uc003aai.3_5'Flank|C22orf13_uc003aaj.3_5'Flank|C22orf13_uc003aak.3_5'Flank|SNRPD3_uc011aju.1_Missense_Mutation_p.V5M	NM_004175	NP_004166	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein polypeptide D3	5					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			ovary(1)	1						GTCTATTGGTGTGCCGATTAA	0.478												
KREMEN1	83999	broad.mit.edu	37	22	29533341	29533341	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:29533341G>A	uc011akm.1	+	6	656	c.643G>A	c.(643-645)GCC>ACC	p.A215T	KREMEN1_uc003ael.2_Missense_Mutation_p.A215T|KREMEN1_uc011akn.1_Missense_Mutation_p.A98T	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	kringle-containing transmembrane protein 1	213	Extracellular (Potential).				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5						TCTCGTGGGCGCCTGCGGTGG	0.592												
GAL3ST1	9514	broad.mit.edu	37	22	30951994	30951994	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:30951994T>C	uc003aig.1	-	4	358	c.218A>G	c.(217-219)CAG>CGG	p.Q73R	GAL3ST1_uc003aih.1_Missense_Mutation_p.Q73R|GAL3ST1_uc003aii.1_Missense_Mutation_p.Q73R|GAL3ST1_uc010gvz.1_Missense_Mutation_p.Q73R	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	73	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						GCGCCGCGGCTGGCACTCCCC	0.662												
EIF4ENIF1	56478	broad.mit.edu	37	22	31837925	31837925	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:31837925C>T	uc003akz.1	-	17	2550	c.2386G>A	c.(2386-2388)GCA>ACA	p.A796T	EIF4ENIF1_uc003akx.1_Missense_Mutation_p.A451T|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.A476T|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.A796T|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.A622T|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.A286T	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	796						nucleus	protein binding|protein transporter activity			ovary(1)	1						ACTGGGGATGCCAAGGTGGGT	0.542												
SFI1	9814	broad.mit.edu	37	22	31969137	31969137	+	Missense_Mutation	SNP	C	C	T	rs76914885		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:31969137C>T	uc003ale.2	+	9	1252	c.859C>T	c.(859-861)CGG>TGG	p.R287W	SFI1_uc003ald.1_Missense_Mutation_p.R263W|SFI1_uc003alf.2_Missense_Mutation_p.R287W|SFI1_uc003alg.2_Missense_Mutation_p.R205W|SFI1_uc011alp.1_Missense_Mutation_p.R205W|SFI1_uc011alq.1_Missense_Mutation_p.R263W|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	287	HAT 3.				G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						CTGGCAAAAACGGAGATTTCT	0.493											OREG0003525	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
DEPDC5	9681	broad.mit.edu	37	22	32198810	32198810	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:32198810G>A	uc003als.2	+	15	1209	c.1067G>A	c.(1066-1068)CGG>CAG	p.R356Q	DEPDC5_uc011als.1_Missense_Mutation_p.R356Q|DEPDC5_uc011alu.1_Missense_Mutation_p.R356Q|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R356Q|DEPDC5_uc003alr.1_Missense_Mutation_p.R356Q|DEPDC5_uc011alt.1_Missense_Mutation_p.R328Q	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	356					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						ACCAAGCAGCGGATGATAGAT	0.512												
MCM5	4174	broad.mit.edu	37	22	35806781	35806781	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:35806781T>C	uc003anu.3	+	7	891	c.797T>C	c.(796-798)ATG>ACG	p.M266T	MCM5_uc010gwr.2_Missense_Mutation_p.M75T|MCM5_uc003anv.3_Missense_Mutation_p.M223T|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Missense_Mutation_p.M50T	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	266					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|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1						GTTACCATCATGGGCATCTAC	0.557												
ELFN2	114794	broad.mit.edu	37	22	37769879	37769879	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:37769879C>T	uc003asq.3	-	3	2482	c.1696G>A	c.(1696-1698)GGC>AGC	p.G566S		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	566	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					CTGCTGCTGCCGCCTCCCAGA	0.637												
GGA1	26088	broad.mit.edu	37	22	38016834	38016834	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:38016834G>A	uc003atc.2	+	6	807	c.442G>A	c.(442-444)GAC>AAC	p.D148N	GGA1_uc003atd.2_Missense_Mutation_p.D148N|GGA1_uc003ate.2_Missense_Mutation_p.D148N|GGA1_uc003atf.2_Missense_Mutation_p.D75N	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	148	Interaction with ARF3.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					TGTAAAGTCCGACCCCAAGCT	0.532												
BAIAP2L2	80115	broad.mit.edu	37	22	38484859	38484859	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:38484859G>A	uc003auw.2	-	10	1158	c.1014C>T	c.(1012-1014)GGC>GGT	p.G338G	BAIAP2L2_uc003auv.2_5'Flank	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	338	SH3.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					TGTGGTTGGCGCCCTCCGAGT	0.602												
BAIAP2L2	80115	broad.mit.edu	37	22	38505175	38505175	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:38505175A>G	uc003auw.2	-	2	236	c.92T>C	c.(91-93)GTG>GCG	p.V31A		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	31	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			pancreas(1)	1	Melanoma(58;0.045)					GCCCAGGTACACCAGGTTCTC	0.642												
MKL1	57591	broad.mit.edu	37	22	40859226	40859226	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:40859226C>T	uc003ayv.1	-	1	213	c.6G>A	c.(4-6)CCG>CCA	p.P2P	MKL1_uc003ayw.1_Silent_p.P2P|MKL1_uc010gye.1_Silent_p.P2P|MKL1_uc010gyf.1_Silent_p.P2P|MKL1_uc003ayy.1_RNA	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	2	Mediates interaction with SCAI and ACTB (By similarity).				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						GGCACTTACGCGGCATGATCC	0.527			T	RBM15	acute megakaryocytic leukemia							
MCHR1	2847	broad.mit.edu	37	22	41077483	41077483	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:41077483C>A	uc003ayz.2	+	2	1088	c.820C>A	c.(820-822)CTC>ATC	p.L274I	MCHR1_uc003aza.2_Missense_Mutation_p.L163I	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	274	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0						AGACACTGACCTCTACTGGTT	0.582												
ZC3H7B	23264	broad.mit.edu	37	22	41738549	41738549	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:41738549C>A	uc003azw.2	+	12	1430	c.1214C>A	c.(1213-1215)CCC>CAC	p.P405H	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	421					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						CCCTGCATGCCCAACACTGCC	0.602												
ZC3H7B	23264	broad.mit.edu	37	22	41751493	41751493	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:41751493G>A	uc003azw.2	+	18	2271	c.2055G>A	c.(2053-2055)GGG>GGA	p.G685G	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	701					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						GGACACATGGGCCCAGCACCT	0.612												
ZC3H7B	23264	broad.mit.edu	37	22	41753409	41753409	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:41753409T>C	uc003azw.2	+	23	3126	c.2910T>C	c.(2908-2910)GCT>GCC	p.A970A	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	986	Poly-Ala.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						CTGCTGCTGCTGCCACCGCCA	0.652												
NHP2L1	4809	broad.mit.edu	37	22	42071182	42071182	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:42071182T>C	uc003bat.2	-	3	336	c.142A>G	c.(142-144)AGG>GGG	p.R48G	NHP2L1_uc003bau.2_Missense_Mutation_p.R48G|NHP2L1_uc003bav.2_Missense_Mutation_p.R48G|NHP2L1_uc003baw.2_Missense_Mutation_p.R48G	NM_005008	NP_004999	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1	48					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding				0						GAGATGCCCCTGTTGAGGGTT	0.557												
CYP2D6	1565	broad.mit.edu	37	22	42522581	42522581	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:42522581G>A	uc003bce.2	-	9	1579	c.1489C>T	c.(1489-1491)CGC>TGC	p.R497C	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.R191C|CYP2D6_uc003bcf.2_Missense_Mutation_p.R446C	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	497							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2						CCATTCTAGCGGGGCACAGCA	0.587												
PACSIN2	11252	broad.mit.edu	37	22	43275116	43275116	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:43275116G>A	uc010gzg.2	-	8	1188	c.966C>T	c.(964-966)GAC>GAT	p.D322D	PACSIN2_uc003bdg.3_Silent_p.D322D|PACSIN2_uc003bde.3_Silent_p.D322D|PACSIN2_uc003bdf.3_Silent_p.D322D	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	322					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				GGGTGACGCCGTCAGTGGCCT	0.602												
EFCAB6	64800	broad.mit.edu	37	22	43933296	43933296	+	Missense_Mutation	SNP	C	C	T	rs142679598	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:43933296C>T	uc003bdy.1	-	29	4224	c.4009G>A	c.(4009-4011)GTG>ATG	p.V1337M	EFCAB6_uc003bdz.1_Missense_Mutation_p.V1185M|EFCAB6_uc010gzi.1_Missense_Mutation_p.V1185M	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1337	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)				TGTCTGGCCACGTCCTTCTCC	0.557												
PPARA	5465	broad.mit.edu	37	22	46627911	46627911	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:46627911G>A	uc003bgw.1	+	8	1200	c.934G>A	c.(934-936)GGA>AGA	p.G312R	PPARA_uc003bgx.1_Missense_Mutation_p.G312R|PPARA_uc010hab.1_Missense_Mutation_p.G312R|PPARA_uc003bhb.1_Missense_Mutation_p.G312R|PPARA_uc010hac.1_Missense_Mutation_p.G109R	NM_005036	NP_005027	Q07869	PPARA_HUMAN	peroxisome proliferative activated receptor,	312	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GCTAAAATACGGAGTTTATGA	0.483												
ALG12	79087	broad.mit.edu	37	22	50301550	50301550	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:50301550C>T	uc003biy.2	-	7	1085	c.811G>A	c.(811-813)GGC>AGC	p.G271S		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	271	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCCCAGGCCGCGGGGCAGG	0.662												
PLXNB2	23654	broad.mit.edu	37	22	50716655	50716655	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:50716655C>A	uc003bkv.3	-	31	4884	c.4778G>T	c.(4777-4779)CGG>CTG	p.R1593L	PLXNB2_uc003bkt.1_Missense_Mutation_p.R385L|PLXNB2_uc003bku.1_Missense_Mutation_p.R578L	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1593	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCGGTCGGCCGCACCAGGTG	0.672												
SAPS2	9701	broad.mit.edu	37	22	50882364	50882364	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:50882364A>G	uc003blb.1	+	24	3092	c.2670A>G	c.(2668-2670)CCA>CCG	p.P890P	SAPS2_uc003bky.1_Silent_p.P857P|SAPS2_uc003bkz.1_Silent_p.P856P|SAPS2_uc003blc.2_Silent_p.P883P|SAPS2_uc003bla.1_Silent_p.P857P|SAPS2_uc003bld.1_Silent_p.P416P	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	890						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)		CTGCTGCCCCAGCCGTGGCTG	0.662												
CHKB	1120	broad.mit.edu	37	22	51020280	51020280	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:51020280G>A	uc003bms.2	-	3	563	c.345C>T	c.(343-345)TCC>TCT	p.S115S	CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Intron|CHKB-CPT1B_uc003bmu.2_5'UTR|CHKB_uc003bmv.2_Silent_p.S115S|LOC100144603_uc003bmw.3_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	choline kinase beta	115					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CTAGCACCAGGGAGTCCACGC	0.612												
SHANK3	85358	broad.mit.edu	37	22	51117231	51117231	+	Silent	SNP	C	C	T	rs79762996	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:51117231C>T	uc003bne.1	+	5	483	c.483C>T	c.(481-483)AAC>AAT	p.N161N		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	161										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGCTGGACAACGCCACGGACC	0.652												
SHANK3	85358	broad.mit.edu	37	22	51133315	51133315	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:51133315G>A	uc003bne.1	+	10	1143	c.1143G>A	c.(1141-1143)GGG>GGA	p.G381G	SHANK3_uc003bnf.1_5'Flank	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	381										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		ACCTGAAGGGGGAGGCACAGC	0.652												
SHANK3	85358	broad.mit.edu	37	22	51143260	51143260	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:51143260C>T	uc003bne.1	+	16	1914	c.1914C>T	c.(1912-1914)GCC>GCT	p.A638A	SHANK3_uc003bnf.1_Silent_p.A93A	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	638										central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCTGGAGGGCCGGGCTGCGCA	0.687												
CHL1	10752	broad.mit.edu	37	3	382479	382479	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:382479G>A	uc003bou.2	+	6	659	c.388G>A	c.(388-390)GTT>ATT	p.V130I	CHL1_uc003bot.2_Missense_Mutation_p.V130I|CHL1_uc003bow.1_Missense_Mutation_p.V130I|CHL1_uc011asi.1_Missense_Mutation_p.V130I	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	130	Ig-like C2-type 2.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TACACCAGGTGTTCCAAAATT	0.333												
CNTN6	27255	broad.mit.edu	37	3	1444070	1444070	+	Silent	SNP	T	T	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:1444070T>A	uc003boz.2	+	22	3153	c.2886T>A	c.(2884-2886)CTT>CTA	p.L962L	CNTN6_uc011asj.1_Silent_p.L890L|CNTN6_uc003bpa.2_Silent_p.L962L	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	962	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAGCTGAGCTTCTGGTTCCAT	0.363												
LMCD1	29995	broad.mit.edu	37	3	8579008	8579008	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:8579008G>A	uc003bqq.2	+	3	383	c.269G>A	c.(268-270)GGC>GAC	p.G90D	LMCD1_uc011atd.1_Missense_Mutation_p.G17D|LMCD1_uc011ate.1_Intron|LMCD1_uc011atf.1_Missense_Mutation_p.G17D	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	90					positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GGCGGGGACGGCATCCGGATT	0.532												
OXTR	5021	broad.mit.edu	37	3	8809681	8809681	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:8809681G>A	uc003brc.2	-	3	815	c.193C>T	c.(193-195)CGC>TGC	p.R65C		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	65	Cytoplasmic (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	CGTGTGGTGCGCAGCGCCAGC	0.662												
TTLL3	26140	broad.mit.edu	37	3	9855027	9855027	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:9855027A>G	uc003btg.2	+	4	529	c.313A>G	c.(313-315)ATG>GTG	p.M105V	ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.M105V|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_5'UTR|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_5'Flank	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	105					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			large_intestine(2)	2	Medulloblastoma(99;0.227)					ACATGCTCTGATGGTGAGGGC	0.423												
CAND2	23066	broad.mit.edu	37	3	12859303	12859303	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:12859303G>A	uc003bxk.2	+	10	2921	c.2872G>A	c.(2872-2874)GAG>AAG	p.E958K	CAND2_uc003bxj.2_Missense_Mutation_p.E865K	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	958	HEAT 20.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						GGTGGTGGCCGAGTGCATTGG	0.657												
CAND2	23066	broad.mit.edu	37	3	12872989	12872989	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:12872989G>A	uc003bxk.2	+	14	3450	c.3401G>A	c.(3400-3402)CGG>CAG	p.R1134Q	CAND2_uc003bxj.2_Missense_Mutation_p.R1017Q	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	1134	HEAT 24.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						ATGGTTGCCCGGCTGGCCACC	0.597												
KCNH8	131096	broad.mit.edu	37	3	19295379	19295379	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:19295379G>A	uc003cbk.1	+	2	505	c.310G>A	c.(310-312)GGG>AGG	p.G104R	KCNH8_uc011awe.1_Missense_Mutation_p.G104R|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	104	PAC.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CAAGAAAAACGGTGAGTTGGC	0.413												
TRANK1	9881	broad.mit.edu	37	3	36873742	36873742	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:36873742T>C	uc003cgj.2	-	12	5852	c.5550A>G	c.(5548-5550)CCA>CCG	p.P1850P		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2400					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						TGGGGATGAGTGGTTCTTTGC	0.488												
DLEC1	9940	broad.mit.edu	37	3	38080825	38080825	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:38080825A>G	uc003cho.1	+	1	130	c.109A>G	c.(109-111)AGC>GGC	p.S37G	DLEC1_uc003chp.1_Missense_Mutation_p.S37G|DLEC1_uc010hgv.1_Missense_Mutation_p.S37G	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	37					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CAGCAGCCCCAGCCAGCCCAC	0.657												
SCN11A	11280	broad.mit.edu	37	3	38913774	38913774	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:38913774G>A	uc011ays.1	-	20	3604	c.3405C>T	c.(3403-3405)ACC>ACT	p.T1135T		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1135	III.|Helical; Name=S3 of repeat III; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TAATGAGGGTGGTCACAGAGA	0.478												
XIRP1	165904	broad.mit.edu	37	3	39226759	39226759	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:39226759C>T	uc003cjk.1	-	2	4399	c.4178G>A	c.(4177-4179)GGA>GAA	p.G1393E	XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.G76E	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1393							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGGCTATGTCCACTGGGACA	0.602												
XIRP1	165904	broad.mit.edu	37	3	39227402	39227402	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:39227402G>A	uc003cjk.1	-	2	3756	c.3535C>T	c.(3535-3537)CGC>TGC	p.R1179C	XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1179							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGAGTGGGCGGGGAGCCTGG	0.672												
XIRP1	165904	broad.mit.edu	37	3	39229837	39229837	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:39229837G>A	uc003cjk.1	-	2	1321	c.1100C>T	c.(1099-1101)GCC>GTC	p.A367V	XIRP1_uc003cji.2_Missense_Mutation_p.A367V|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	367							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTTGGGTGGGGCCTCTGCTCC	0.577												
CCR8	1237	broad.mit.edu	37	3	39374056	39374056	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:39374056C>A	uc010hhr.2	+	2	372	c.234C>A	c.(232-234)GCC>GCA	p.A78A	CCR8_uc003cjm.2_Intron	NM_005201	NP_005192	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	78	Helical; Name=2; (Potential).				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			ovary(1)|lung(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TGAACCTGGCCCTGTCTGACC	0.498												
CTNNB1	1499	broad.mit.edu	37	3	41266654	41266654	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:41266654C>T	uc010hia.1	+	5	607	c.451C>T	c.(451-453)CGT>TGT	p.R151C	CTNNB1_uc003ckp.2_Missense_Mutation_p.R151C|CTNNB1_uc003ckq.2_Missense_Mutation_p.R151C|CTNNB1_uc003ckr.2_Missense_Mutation_p.R151C|CTNNB1_uc011azf.1_Missense_Mutation_p.R144C|CTNNB1_uc011azg.1_Missense_Mutation_p.R79C|uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	151	ARM 1.				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.M1_V173del(1)|p.I35_K170del(1)|p.A20_R151del(1)|p.A13_R151del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACTTGCCACACGTGCAATCCC	0.428		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of			
CTNNB1	1499	broad.mit.edu	37	3	41275088	41275088	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:41275088C>A	uc010hia.1	+	10	1410	c.1254C>A	c.(1252-1254)ACC>ACA	p.T418T	CTNNB1_uc003ckp.2_Silent_p.T418T|CTNNB1_uc003ckq.2_Silent_p.T418T|CTNNB1_uc003ckr.2_Silent_p.T418T|CTNNB1_uc011azf.1_Silent_p.T411T|CTNNB1_uc011azg.1_Silent_p.T346T|CTNNB1_uc003cks.2_Silent_p.T21T|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	418	ARM 7.				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ATGTGGTCACCTGTGCAGCTG	0.443		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of			
HHATL	57467	broad.mit.edu	37	3	42735237	42735237	+	Missense_Mutation	SNP	C	C	T	rs149595115		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:42735237C>T	uc003clw.2	-	11	1267	c.1120G>A	c.(1120-1122)GCC>ACC	p.A374T	HHATL_uc003clx.2_Missense_Mutation_p.A374T	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	374					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GTGGTGATGGCAAATGTGGCC	0.522												
ZNF445	353274	broad.mit.edu	37	3	44489074	44489074	+	Missense_Mutation	SNP	C	C	T	rs146656660		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:44489074C>T	uc003cnf.2	-	8	2437	c.2089G>A	c.(2089-2091)GTT>ATT	p.V697I	ZNF445_uc011azv.1_Missense_Mutation_p.V685I|ZNF445_uc011azw.1_Missense_Mutation_p.V697I	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	697	C2H2-type 6.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGGTGGTCAACGAGAGTTTTC	0.463												
LTF	4057	broad.mit.edu	37	3	46484979	46484979	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:46484979G>A	uc003cpq.2	-	13	1646	c.1608C>T	c.(1606-1608)TGC>TGT	p.C536C	LTF_uc003fzr.2_Silent_p.C492C|LTF_uc010hjh.2_Silent_p.C534C|LTF_uc003cpr.2_Silent_p.C523C	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	536	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGTTGGGCACGCACTTATTCT	0.532												
DHX30	22907	broad.mit.edu	37	3	47888257	47888257	+	Silent	SNP	C	C	T	rs151184284		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:47888257C>T	uc003cru.2	+	11	2121	c.1695C>T	c.(1693-1695)GAC>GAT	p.D565D	DHX30_uc003crt.2_Silent_p.D526D|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	565	Helicase ATP-binding.					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)		ATGAGCGGGACGTGAACACAG	0.617												
CDC25A	993	broad.mit.edu	37	3	48207221	48207221	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48207221C>T	uc003csh.1	-	12	1460	c.1096G>A	c.(1096-1098)GCA>ACA	p.A366T	CDC25A_uc003csi.1_Missense_Mutation_p.A326T	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	366					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|kidney(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		AAAACAGATGCCATCTGTTGA	0.423												
COL7A1	1294	broad.mit.edu	37	3	48629340	48629340	+	Missense_Mutation	SNP	G	G	A	rs139434755		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48629340G>A	uc003ctz.2	-	10	1349	c.1348C>T	c.(1348-1350)CGT>TGT	p.R450C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	450	Nonhelical region (NC1).|Fibronectin type-III 3.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGTCTCACGCCGCCATTCC	0.632												
COL7A1	1294	broad.mit.edu	37	3	48630626	48630626	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48630626G>A	uc003ctz.2	-	5	592	c.591C>T	c.(589-591)TTC>TTT	p.F197F		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	197	Nonhelical region (NC1).|VWFA 1.			FFF -> EFR (in Ref. 4; BAA02853).	cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTCATTGACGAAGAAGAAGA	0.562												
TMEM89	440955	broad.mit.edu	37	3	48659143	48659143	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48659143G>A	uc011bbo.1	-	1	47	c.47C>T	c.(46-48)ACG>ATG	p.T16M		NM_001008269	NP_001008270	A2RUT3	TMM89_HUMAN	transmembrane protein 89 precursor	16						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGGCAGACGTCACCAGCAG	0.672												
CELSR3	1951	broad.mit.edu	37	3	48668546	48668546	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48668546G>A	uc003cuf.1	-	45	11229	c.11229C>T	c.(11227-11229)ACC>ACT	p.T3743T	SLC26A6_uc003cug.2_Silent_p.T317T|SLC26A6_uc003cuh.2_Silent_p.T338T|SLC26A6_uc010hke.2_Silent_p.T189T|SLC26A6_uc003cuk.2_Silent_p.T231T|SLC26A6_uc003cui.2_Silent_p.T338T|SLC26A6_uc003cuj.2_Silent_p.T338T|SLC26A6_uc011bbp.1_Silent_p.T302T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGAACAGCTGGGTGTTGGGGG	0.617												
CELSR3	1951	broad.mit.edu	37	3	48669116	48669116	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48669116T>A	uc003cuf.1	-	43	11084	c.11084A>T	c.(11083-11085)CAG>CTG	p.Q3695L	SLC26A6_uc003cug.2_Missense_Mutation_p.Q269L|SLC26A6_uc003cuh.2_Missense_Mutation_p.Q290L|SLC26A6_uc010hke.2_Missense_Mutation_p.Q141L|SLC26A6_uc003cuk.2_Missense_Mutation_p.Q183L|SLC26A6_uc003cui.2_Missense_Mutation_p.Q290L|SLC26A6_uc003cuj.2_Missense_Mutation_p.Q290L|SLC26A6_uc011bbp.1_Missense_Mutation_p.Q254L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	Error:Variant_position_missing_in_Q9NYQ7_after_alignment					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CATGGGCAGCTGCTGCTGCAG	0.652												
CELSR3	1951	broad.mit.edu	37	3	48696563	48696563	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48696563G>A	uc003cul.2	-	1	3786	c.3505C>T	c.(3505-3507)CTC>TTC	p.L1169F	CELSR3_uc003cuf.1_Missense_Mutation_p.L1239F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1169	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AAGTTGTTGAGCACAGGGCTG	0.537												
USP19	10869	broad.mit.edu	37	3	49152280	49152280	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:49152280C>T	uc003cwd.1	-	14	2060	c.1899G>A	c.(1897-1899)CGG>CGA	p.R633R	USP19_uc003cwa.2_Silent_p.R441R|USP19_uc003cvz.3_Silent_p.R736R|USP19_uc011bcg.1_Silent_p.R724R|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Silent_p.R391R|USP19_uc011bch.1_Silent_p.R734R	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	633	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCATCTTGTGCCGCTGCCATG	0.567												
LAMB2	3913	broad.mit.edu	37	3	49159654	49159654	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:49159654G>A	uc003cwe.2	-	28	5022	c.4723C>T	c.(4723-4725)CGT>TGT	p.R1575C	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1575	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTACAGTACGTGCCAGGATC	0.617												
MST1R	4486	broad.mit.edu	37	3	49935593	49935593	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:49935593C>A	uc003cxy.3	-	5	2035	c.1771G>T	c.(1771-1773)GGC>TGC	p.G591C	MST1R_uc011bdd.1_Missense_Mutation_p.G591C|MST1R_uc011bde.1_Missense_Mutation_p.G591C|MST1R_uc011bdf.1_Missense_Mutation_p.G485C|MST1R_uc011bdc.1_5'Flank	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	591	IPT/TIG 1.|Extracellular (Potential).				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AAGTTGGAGCCACACAGGGTC	0.597												
HYAL2	8692	broad.mit.edu	37	3	50355829	50355829	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:50355829T>C	uc003czu.2	-	4	1373	c.1153A>G	c.(1153-1155)ACC>GCC	p.T385A	HYAL2_uc003czx.2_Missense_Mutation_p.T385A|HYAL2_uc003czv.2_Missense_Mutation_p.T385A|HYAL2_uc003czw.2_Missense_Mutation_p.T385A	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2 precursor	385	EGF-like.					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	TGCAGGAAGGTACTGGCACTG	0.637												
TEX264	51368	broad.mit.edu	37	3	51733580	51733580	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:51733580G>T	uc010hls.2	+	5	808	c.639G>T	c.(637-639)GTG>GTT	p.V213V	TEX264_uc003dbk.3_Silent_p.V213V|TEX264_uc010hlt.2_Silent_p.V33V|TEX264_uc003dbl.3_Silent_p.V213V|TEX264_uc003dbm.3_Silent_p.V252V	NM_001129884	NP_001123356	Q9Y6I9	TX264_HUMAN	testis expressed 264 precursor	213						extracellular region					0				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		ACACCCAGGTGGATGGCACAG	0.597												
DNAH1	25981	broad.mit.edu	37	3	52417962	52417962	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:52417962C>T	uc011bef.1	+	52	8498	c.8237C>T	c.(8236-8238)CCG>CTG	p.P2746L	DNAH1_uc003ddv.2_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2746	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACGAGTGGCCGGCAGAAGCC	0.562												
STAB1	23166	broad.mit.edu	37	3	52529484	52529484	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:52529484G>T	uc003dej.2	+	1	129	c.55G>T	c.(55-57)GGC>TGC	p.G19C	STAB1_uc003dei.1_Missense_Mutation_p.G19C	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	19					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)		CTGCCTGGCAGGCTTCAGCTT	0.697												
PBRM1	55193	broad.mit.edu	37	3	52623161	52623161	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:52623161C>T	uc003des.2	-	18	2902	c.2890G>A	c.(2890-2892)GTC>ATC	p.V964I	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.V964I|PBRM1_uc003der.2_Missense_Mutation_p.V932I|PBRM1_uc003det.2_Missense_Mutation_p.V979I|PBRM1_uc003deu.2_Missense_Mutation_p.V979I|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.V964I|PBRM1_uc010hmk.1_Missense_Mutation_p.V964I|PBRM1_uc003dey.2_Missense_Mutation_p.V964I|PBRM1_uc003dez.1_Missense_Mutation_p.V963I|PBRM1_uc003dfb.1_Missense_Mutation_p.V876I|PBRM1_uc003dfa.1_Missense_Mutation_p.V310I	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	964	BAH 1.				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)		TCCACATAGACGTAATCTCCA	0.458			Mis|N|F|S|D|O		clear cell renal carcinoma|breast							
ITIH4	3700	broad.mit.edu	37	3	52861147	52861147	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:52861147G>A	uc003dfz.2	-	3	354	c.318C>T	c.(316-318)AGC>AGT	p.S106S	ITIH4_uc011bel.1_5'Flank|ITIH4_uc003dfy.2_5'Flank|ITIH4_uc011bem.1_Silent_p.S106S|ITIH4_uc011ben.1_Silent_p.S106S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	106	VIT.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCACTGCTGCGCTGTACTGTG	0.602												
SFMBT1	51460	broad.mit.edu	37	3	52945125	52945125	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:52945125G>A	uc003dgf.2	-	18	2369	c.1800C>T	c.(1798-1800)TGC>TGT	p.C600C	SFMBT1_uc010hmr.2_Silent_p.C547C|SFMBT1_uc003dgg.2_Silent_p.C600C|SFMBT1_uc003dgh.2_Silent_p.C600C	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	600					regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AGGTTTGCCGGCAGAATTCAG	0.438												
CACNA1D	776	broad.mit.edu	37	3	53835443	53835443	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:53835443G>C	uc003dgv.3	+	42	5562	c.5399G>C	c.(5398-5400)AGT>ACT	p.S1800T	CACNA1D_uc003dgu.3_Missense_Mutation_p.S1820T|CACNA1D_uc003dgy.3_Missense_Mutation_p.S1785T|CACNA1D_uc003dgw.3_Missense_Mutation_p.S1467T|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1800	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AGAAGGTCCAGTGTGAAAAGG	0.542												
PDE12	201626	broad.mit.edu	37	3	57543207	57543207	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:57543207C>A	uc003diw.3	+	1	1227	c.1101C>A	c.(1099-1101)GCC>GCA	p.A367A	PDE12_uc003div.2_Silent_p.A367A	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	367							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CCCTAGAGGCCTTCGGGCTCG	0.532												
PTPRG	5793	broad.mit.edu	37	3	61975362	61975362	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:61975362C>A	uc003dlb.2	+	3	973	c.254C>A	c.(253-255)CCT>CAT	p.P85H	PTPRG_uc003dlc.2_Missense_Mutation_p.P85H	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	85	Extracellular (Potential).|Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CACCAGTCTCCTATTGACATT	0.488												
CADPS	8618	broad.mit.edu	37	3	62385187	62385187	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:62385187C>T	uc003dll.2	-	30	4316	c.3956G>A	c.(3955-3957)CGG>CAG	p.R1319Q	CADPS_uc003dlj.1_Missense_Mutation_p.R274Q|CADPS_uc003dlk.1_Missense_Mutation_p.R767Q|CADPS_uc003dlm.2_Missense_Mutation_p.R1280Q|CADPS_uc003dln.2_Missense_Mutation_p.R1240Q	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1319	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAGACGGTTCCGGATCGTTTC	0.498												
GPR27	2850	broad.mit.edu	37	3	71804132	71804132	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:71804132G>A	uc011bge.1	+	1	932	c.932G>A	c.(931-933)CGG>CAG	p.R311Q	EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	311	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GTCCTGGTGCGGCCCGGCGCC	0.672												
PROS1	5627	broad.mit.edu	37	3	93603719	93603719	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:93603719A>G	uc003drb.3	-	12	1686	c.1345T>C	c.(1345-1347)TGT>CGT	p.C449R	PROS1_uc010hoo.2_Missense_Mutation_p.C318R|PROS1_uc003dqz.3_Missense_Mutation_p.C318R	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	449	Laminin G-like 1.		C -> S (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CTTCGTATACATCCATCTAGA	0.348												
DCBLD2	131566	broad.mit.edu	37	3	98538224	98538224	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:98538224G>A	uc003dtd.2	-	8	1272	c.909C>T	c.(907-909)ATC>ATT	p.I303I	DCBLD2_uc003dte.2_Silent_p.I303I	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	303	Extracellular (Potential).|F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3						GAGGATCCGCGATCACACCAG	0.443												
IMPG2	50939	broad.mit.edu	37	3	100949925	100949925	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:100949925C>T	uc003duq.1	-	16	3501	c.3298G>A	c.(3298-3300)GTG>ATG	p.V1100M	IMPG2_uc011bhe.1_Missense_Mutation_p.V963M|IMPG2_uc010hpj.1_Intron	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1100	Helical; (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						CCTATGATCACGGGCTCAGAC	0.502												
CBLB	868	broad.mit.edu	37	3	105422838	105422838	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:105422838T>C	uc003dwc.2	-	11	1909	c.1587A>G	c.(1585-1587)TCA>TCG	p.S529S	CBLB_uc011bhi.1_Silent_p.S551S|CBLB_uc003dwd.1_Silent_p.S529S|CBLB_uc003dwe.1_Silent_p.S529S	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	529	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			lung(4)|ovary(3)|breast(1)|skin(1)	9						CTACCTTTGGTGAACCCGTTG	0.403			Mis S		AML							
TRAT1	50852	broad.mit.edu	37	3	108572699	108572699	+	Missense_Mutation	SNP	G	G	A	rs79029897	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:108572699G>A	uc003dxi.1	+	6	680	c.536G>A	c.(535-537)CGT>CAT	p.R179H	TRAT1_uc010hpx.1_Missense_Mutation_p.R142H	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule	179	Cytoplasmic (Potential).				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(1)	1						GGATTGATCCGTGCTAAGAGA	0.428												
C3orf17	25871	broad.mit.edu	37	3	112732150	112732150	+	Missense_Mutation	SNP	G	G	A	rs34351095		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:112732150G>A	uc003dzr.2	-	4	503	c.442C>T	c.(442-444)CGC>TGC	p.R148C	GTPBP8_uc011bhy.1_Intron|C3orf17_uc011bhz.1_Intron|C3orf17_uc010hqh.2_Intron|C3orf17_uc003dzt.2_Missense_Mutation_p.R51C|C3orf17_uc003dzs.2_Missense_Mutation_p.R12C|C3orf17_uc010hqg.2_5'UTR|C3orf17_uc011bia.1_Missense_Mutation_p.P25L|C3orf17_uc003dzu.2_Intron|C3orf17_uc011bib.1_Missense_Mutation_p.R37C|C3orf17_uc011bic.1_Intron|C3orf17_uc011bid.1_Intron	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	148						integral to membrane					0						TCCAACAAGCGGAGCAACAAC	0.398												
WDR52	55779	broad.mit.edu	37	3	113118803	113118803	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:113118803G>A	uc003eae.1	-	13	1565	c.1519C>T	c.(1519-1521)CAG>TAG	p.Q507*		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	507	WD 5.									central_nervous_system(1)	1						AATTTCATCTGGGCCAAAGGA	0.318												
GRAMD1C	54762	broad.mit.edu	37	3	113658739	113658739	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:113658739G>A	uc003eaq.3	+	16	1774	c.1698G>A	c.(1696-1698)TTG>TTA	p.L566L	GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc003ear.2_Silent_p.L399L|GRAMD1C_uc003eas.2_Silent_p.L361L|GRAMD1C_uc003eat.2_Silent_p.L225L	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	566	Helical; (Potential).					integral to membrane				ovary(2)|skin(1)	3						CTAGTGTGTTGTTATTAGTTT	0.373												
UPK1B	7348	broad.mit.edu	37	3	118909885	118909885	+	Silent	SNP	T	T	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:118909885T>G	uc003ecc.2	+	5	491	c.402T>G	c.(400-402)CCT>CCG	p.P134P	UPK1B_uc011bix.1_Silent_p.P54P|UPK1B_uc003ecd.2_Silent_p.P126P	NM_006952	NP_008883	O75841	UPK1B_HUMAN	uroplakin 1B	134	Extracellular (Potential).				epithelial cell differentiation	integral to membrane	structural molecule activity				0				GBM - Glioblastoma multiforme(114;0.222)		ACAACAGCCCTCCAAACAATG	0.483												
CD80	941	broad.mit.edu	37	3	119263411	119263411	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:119263411G>A	uc003ecq.2	-	3	799	c.404C>T	c.(403-405)ACG>ATG	p.T135M	CD80_uc010hqt.1_Missense_Mutation_p.T135M|CD80_uc010hqu.1_Missense_Mutation_p.T135M|CD80_uc003ecr.1_Missense_Mutation_p.T135M	NM_005191	NP_005182	P33681	CD80_HUMAN	CD80 antigen precursor	135	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2					Abatacept(DB01281)	GACTGATAACGTCACTTCAGC	0.453												
FBXO40	51725	broad.mit.edu	37	3	121341781	121341781	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:121341781G>A	uc003eeg.2	+	3	1715	c.1505G>A	c.(1504-1506)TGT>TAT	p.C502Y		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	502					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		ATTCAGTCATGTCTCAATGGC	0.478												
GOLGB1	2804	broad.mit.edu	37	3	121410577	121410577	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:121410577A>G	uc003eei.3	-	14	7745	c.7619T>C	c.(7618-7620)CTG>CCG	p.L2540P	GOLGB1_uc010hrc.2_Missense_Mutation_p.L2545P|GOLGB1_uc003eej.3_Missense_Mutation_p.L2506P	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	2540	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CACTTGGTTCAGGTCTTCTCT	0.363												
CD86	942	broad.mit.edu	37	3	121828183	121828183	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:121828183T>C	uc003eet.2	+	5	891	c.775T>C	c.(775-777)TGT>CGT	p.C259R	CD86_uc011bjo.1_Missense_Mutation_p.C177R|CD86_uc011bjp.1_Missense_Mutation_p.C147R|CD86_uc003eeu.2_Missense_Mutation_p.C253R	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	259	Helical; (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)	AGTTATTATATGTGTGATGGT	0.443												
SEMA5B	54437	broad.mit.edu	37	3	122631808	122631808	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:122631808G>A	uc003efz.1	-	18	2911	c.2607C>T	c.(2605-2607)TGC>TGT	p.C869C	SEMA5B_uc011bju.1_Silent_p.C811C|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.C869C|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	869	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)		AGCCCAGCTCGCAGTCCCGGG	0.731												
SEC22A	26984	broad.mit.edu	37	3	122942522	122942522	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:122942522T>C	uc003ege.2	+	3	378	c.299T>C	c.(298-300)ATG>ACG	p.M100T	SEC22A_uc003egf.2_Missense_Mutation_p.M100T	NM_012430	NP_036562	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A	100	Cytoplasmic (Potential).|Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0548)		ACTTATAACATGATGAAGACA	0.383												
RUVBL1	8607	broad.mit.edu	37	3	127816210	127816210	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:127816210G>A	uc003ekh.2	-	8	1053	c.949C>T	c.(949-951)CGC>TGC	p.R317C	RUVBL1_uc003eke.2_Missense_Mutation_p.R58C|RUVBL1_uc003ekf.2_Missense_Mutation_p.R257C|RUVBL1_uc010hss.2_Missense_Mutation_p.R317C	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	317					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		TCCAGGGCGCGGTGCAGGTAG	0.552												
RUVBL1	8607	broad.mit.edu	37	3	127816299	127816299	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:127816299A>G	uc003ekh.2	-	8	964	c.860T>C	c.(859-861)ATC>ACC	p.I287T	RUVBL1_uc003eke.2_Missense_Mutation_p.I28T|RUVBL1_uc003ekf.2_Missense_Mutation_p.I227T|RUVBL1_uc010hss.2_Missense_Mutation_p.I287T	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	287					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)		GCCCTGGTCGATGTACTTGTT	0.562												
PLXND1	23129	broad.mit.edu	37	3	129278498	129278498	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:129278498G>A	uc003emx.2	-	32	5362	c.5262C>T	c.(5260-5262)TCC>TCT	p.S1754S	PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Silent_p.S422S	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1754	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						TGTCGGGGTCGGAGATTCCCC	0.542												
TMCC1	23023	broad.mit.edu	37	3	129373844	129373844	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:129373844C>T	uc003emz.3	-	6	2115	c.1614G>A	c.(1612-1614)GCG>GCA	p.A538A	TMCC1_uc003emy.3_Silent_p.A214A|TMCC1_uc011blc.1_Silent_p.A359A|TMCC1_uc010htg.2_Silent_p.A424A	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	538	Potential.					integral to membrane				skin(1)	1						AGGACTGATACGCGATTTTTT	0.428												
CLSTN2	64084	broad.mit.edu	37	3	140277498	140277498	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:140277498G>A	uc003etn.2	+	12	2030	c.1840G>A	c.(1840-1842)GTA>ATA	p.V614I		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	614	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						TGGGGAAGACGTATGCATCAG	0.542										HNSCC(16;0.037)		
SPSB4	92369	broad.mit.edu	37	3	140785500	140785500	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:140785500A>C	uc003ett.2	+	2	808	c.554A>C	c.(553-555)GAG>GCG	p.E185A	SPSB4_uc010hum.2_Missense_Mutation_p.E185A	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	185	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0						GACATGGATGAGGGCACACTC	0.662												
ACPL2	92370	broad.mit.edu	37	3	141011448	141011448	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:141011448G>A	uc003etu.2	+	8	1143	c.844G>A	c.(844-846)GTG>ATG	p.V282M	ACPL2_uc003etv.2_Missense_Mutation_p.V282M|ACPL2_uc011bna.1_Missense_Mutation_p.V244M|ACPL2_uc011bnb.1_Missense_Mutation_p.V265M	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2 precursor	282						extracellular region	acid phosphatase activity			skin(1)	1						GGCCAAGATCGTGGATGTCCC	0.527												
GRK7	131890	broad.mit.edu	37	3	141526518	141526518	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:141526518T>C	uc011bnd.1	+	3	1166	c.1082T>C	c.(1081-1083)ATC>ACC	p.I361T		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	361	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						GCTCCTGAGATCCTAATGGAA	0.393												
CHST2	9435	broad.mit.edu	37	3	142840728	142840728	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:142840728G>A	uc003evm.2	+	2	1959	c.1070G>A	c.(1069-1071)CGC>CAC	p.R357H		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	357	Lumenal (Potential).				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						CAGGTGGTGCGCAGCCGAGAC	0.687												
ZIC1	7545	broad.mit.edu	37	3	147128224	147128224	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:147128224G>A	uc003ewe.2	+	1	1044	c.325G>A	c.(325-327)GAC>AAC	p.D109N		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	109					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGGTTTTGGCGACGCGGCGGC	0.706												
CP	1356	broad.mit.edu	37	3	148904461	148904461	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:148904461C>T	uc003ewy.3	-	11	2176	c.1923G>A	c.(1921-1923)TCG>TCA	p.S641S	CP_uc011bnr.1_Intron|CP_uc003ewx.3_Silent_p.S422S|CP_uc003ewz.2_Silent_p.S641S|CP_uc010hvf.1_Silent_p.S367S	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	641	Plastocyanin-like 4.|F5/8 type A 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ACCACACGACCGAATCTCCTT	0.438												
IGSF10	285313	broad.mit.edu	37	3	151154496	151154496	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:151154496G>A	uc011bod.1	-	6	7853	c.7853C>T	c.(7852-7854)ACG>ATG	p.T2618M	IGSF10_uc011bob.1_Missense_Mutation_p.T645M|IGSF10_uc011boc.1_Missense_Mutation_p.T597M	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2618	Ig-like C2-type 12.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGAATATACGTTGCTGCATA	0.383												
PLCH1	23007	broad.mit.edu	37	3	155301352	155301352	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:155301352C>T	uc011bok.1	-	5	921	c.644G>A	c.(643-645)CGA>CAA	p.R215Q	PLCH1_uc011boj.1_Missense_Mutation_p.R215Q|PLCH1_uc011bol.1_Missense_Mutation_p.R197Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	215					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATAAAGGTCTCGTCTCAAAGA	0.383												
SHOX2	6474	broad.mit.edu	37	3	157823674	157823674	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:157823674C>T	uc003fbr.2	-	1	279	c.140G>A	c.(139-141)GGC>GAC	p.G47D	SHOX2_uc003fbs.2_Missense_Mutation_p.G47D|SHOX2_uc010hvw.2_Missense_Mutation_p.G47D	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	47					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTCGTCGCGGCCCGCCTCGGT	0.468												
SI	6476	broad.mit.edu	37	3	164709251	164709251	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:164709251G>A	uc003fei.2	-	44	5060	c.4998C>T	c.(4996-4998)GGC>GGT	p.G1666G		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1666	Sucrase.|Lumenal.				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)	GTCCTCTGACGCCAATATCTT	0.403										HNSCC(35;0.089)		
SLITRK3	22865	broad.mit.edu	37	3	164906063	164906063	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:164906063T>C	uc003fej.3	-	2	3000	c.2556A>G	c.(2554-2556)GGA>GGG	p.G852G	SLITRK3_uc003fek.2_Silent_p.G852G	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	852	Cytoplasmic (Potential).					integral to membrane		p.G852E(1)		ovary(6)|skin(3)|pancreas(1)	10						CTCCCCCAGTTCCCCCAACTA	0.572										HNSCC(40;0.11)		
ZBBX	79740	broad.mit.edu	37	3	167000177	167000177	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:167000177A>G	uc003fep.2	-	19	2309	c.1986T>C	c.(1984-1986)GCT>GCC	p.A662A	ZBBX_uc011bpc.1_Silent_p.A701A|ZBBX_uc003feq.2_Silent_p.A633A	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	662	Ser-rich.					intracellular	zinc ion binding			ovary(2)	2						ATGATTGAGCAGCTGCACTTC	0.388												
WDR49	151790	broad.mit.edu	37	3	167246889	167246889	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:167246889T>C	uc003fev.1	-	10	1607	c.1301A>G	c.(1300-1302)TAC>TGC	p.Y434C	WDR49_uc003feu.1_Missense_Mutation_p.Y259C|WDR49_uc011bpd.1_Missense_Mutation_p.Y498C|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	434	WD 7.									large_intestine(1)|ovary(1)|skin(1)	3						TGTGGTAAGGTATCGATTCAT	0.343												
LRRIQ4	344657	broad.mit.edu	37	3	169546704	169546704	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:169546704A>G	uc003fgb.2	+	2	1178	c.1178A>G	c.(1177-1179)CAC>CGC	p.H393R		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	393	LRR 16.										0						GTGCCAGAACACATTAGGAAA	0.443												
EIF5A2	56648	broad.mit.edu	37	3	170625432	170625432	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:170625432T>C	uc003fhd.2	-	2	294	c.164A>G	c.(163-165)AAG>AGG	p.K55R		NM_020390	NP_065123	Q9GZV4	IF5A2_HUMAN	eIF-5A2 protein	55					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity				0	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			GGTACTTACCTTGGCATGACC	0.443												
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		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)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
FXR1	8087	broad.mit.edu	37	3	180669105	180669105	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:180669105C>T	uc003fkq.2	+	8	672	c.650C>T	c.(649-651)GCA>GTA	p.A217V	FXR1_uc003fkp.2_Missense_Mutation_p.A132V|FXR1_uc003fkr.2_Missense_Mutation_p.A217V|FXR1_uc011bqj.1_Missense_Mutation_p.A131V|FXR1_uc003fks.2_Missense_Mutation_p.A131V|FXR1_uc011bqk.1_Missense_Mutation_p.A168V|FXR1_uc011bql.1_Missense_Mutation_p.A204V	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	217					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CAACTTGCAGCAGCTTTTCAT	0.333												
ATP11B	23200	broad.mit.edu	37	3	182631688	182631688	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:182631688A>G	uc003flb.2	+	29	3615	c.3358A>G	c.(3358-3360)ATG>GTG	p.M1120V	ATP11B_uc003flc.2_Missense_Mutation_p.M704V|ATP11B_uc010hxg.2_RNA|ATP11B_uc010hxh.1_3'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1120	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CTTGGACTCCATGTGCTGTTT	0.453												
DCUN1D1	54165	broad.mit.edu	37	3	182679028	182679028	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:182679028C>T	uc003fld.1	-	4	555	c.506G>A	c.(505-507)GGA>GAA	p.G169E	DCUN1D1_uc011bqn.1_Missense_Mutation_p.G26E	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	169	DCUN1.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCCTTTTTGTCCTGGATTCTT	0.299												
EIF2B5	8893	broad.mit.edu	37	3	183858374	183858374	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:183858374T>C	uc003fmp.2	+	7	1376	c.1012T>C	c.(1012-1014)TCC>CCC	p.S338P	EIF2B5_uc003fmq.2_Missense_Mutation_p.S59P|EIF2B5_uc003fmr.2_5'Flank	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	338					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTGCACTCATTCCCGGCACAA	0.587												
FAM131A	131408	broad.mit.edu	37	3	184062596	184062596	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:184062596C>A	uc003fog.2	+	3	2210	c.846C>A	c.(844-846)TCC>TCA	p.S282S	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Silent_p.S228S|FAM131A_uc003foe.2_Silent_p.S228S	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	282						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCACAGAGTCCTGCCTTTCCC	0.672												
THPO	7066	broad.mit.edu	37	3	184093704	184093704	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:184093704C>T	uc003fol.1	-	3	328	c.113G>A	c.(112-114)CGT>CAT	p.R38H	THPO_uc003fom.1_Missense_Mutation_p.R38H|THPO_uc003fon.2_Missense_Mutation_p.R38H|THPO_uc011bro.1_Missense_Mutation_p.R38H|THPO_uc003fop.2_Missense_Mutation_p.R38H|THPO_uc011brp.1_Missense_Mutation_p.R38H|THPO_uc011brq.1_Missense_Mutation_p.R38H|THPO_uc003for.1_5'Flank|THPO_uc003fos.1_5'Flank|THPO_uc003fot.1_Missense_Mutation_p.R38H|THPO_uc003fou.1_Missense_Mutation_p.R38H	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	38					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGGGAGTCACGAAGCAGTTT	0.532												
LIPH	200879	broad.mit.edu	37	3	185252860	185252860	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:185252860G>A	uc003fpm.2	-	2	220	c.110C>T	c.(109-111)ACG>ATG	p.T37M	LIPH_uc010hyh.2_Missense_Mutation_p.T37M	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	lipase, member H precursor	37					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			ovary(1)|pancreas(1)	2	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ATTTAGTCCCGTACCAACCAC	0.453												
RTP1	132112	broad.mit.edu	37	3	186917853	186917853	+	Missense_Mutation	SNP	G	G	A	rs144665722		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:186917853G>A	uc003frg.2	+	2	817	c.787G>A	c.(787-789)GTA>ATA	p.V263I		NM_153708	NP_714919	P59025	RTP1_HUMAN	receptor transporting protein 1	263	Extracellular (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			ovary(2)|breast(1)	3	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCGTAGCTCCGTATAAGATTC	0.547												
RTP2	344892	broad.mit.edu	37	3	187416493	187416493	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:187416493G>T	uc003fro.1	-	2	900	c.471C>A	c.(469-471)GCC>GCA	p.A157A		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	receptor transporting protein 2	157	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding				0	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCTCCTGGCAGGCCTCACAGA	0.672												
LRRC15	131578	broad.mit.edu	37	3	194080099	194080099	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:194080099G>A	uc003ftu.2	-	2	1760	c.1674C>T	c.(1672-1674)TGC>TGT	p.C558C	LRRC15_uc003ftt.2_Silent_p.C564C	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	558	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)		AACAGCCGACGCAGGCAGCCA	0.612												
FAM43A	131583	broad.mit.edu	37	3	194407692	194407692	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:194407692C>T	uc003fuj.2	+	1	1071	c.137C>T	c.(136-138)GCG>GTG	p.A46V		NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	hypothetical protein LOC131583	46										central_nervous_system(1)	1	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		CCCGAAGGCGCGCTTAGCCGG	0.682												
MUC4	4585	broad.mit.edu	37	3	195516403	195516403	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:195516403G>A	uc011bto.1	-	2	2508	c.2048C>T	c.(2047-2049)CCT>CTT	p.P683L	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.P565L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	688					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGCGTCCTGAGGAACAATTTC	0.602												
TNK2	10188	broad.mit.edu	37	3	195595140	195595140	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:195595140C>T	uc003fvu.1	-	12	2527	c.1984G>A	c.(1984-1986)GGG>AGG	p.G662R	TNK2_uc003fvq.1_Missense_Mutation_p.G69R|TNK2_uc003fvr.1_Missense_Mutation_p.G187R|TNK2_uc003fvs.1_Missense_Mutation_p.G694R|TNK2_uc003fvt.1_Missense_Mutation_p.G740R|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	662	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TGGCTGGGCCCGGCAGGGACC	0.706												
WHSC1	7468	broad.mit.edu	37	4	1953859	1953859	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:1953859C>T	uc003gdz.3	+	11	2214	c.2038C>T	c.(2038-2040)CTG>TTG	p.L680L	WHSC1_uc003geb.3_Silent_p.L680L|WHSC1_uc003gec.3_Silent_p.L680L|WHSC1_uc003ged.3_Silent_p.L680L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_5'UTR	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	680	PHD-type 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)		GGGCAGCCTCCTGCTCTGTGA	0.657			T	IGH@	MM							
WHSC1	7468	broad.mit.edu	37	4	1957027	1957027	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:1957027C>T	uc003gdz.3	+	13	2654	c.2478C>T	c.(2476-2478)CAC>CAT	p.H826H	WHSC1_uc003geb.3_Silent_p.H826H|WHSC1_uc003gec.3_Silent_p.H826H|WHSC1_uc003ged.3_Silent_p.H826H|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.H45H|WHSC1_uc011bvh.1_Translation_Start_Site|WHSC1_uc010icf.2_Silent_p.H174H	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	826					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)		AGCGACACCACGCCCACGTCA	0.612			T	IGH@	MM							
POLN	353497	broad.mit.edu	37	4	2073999	2073999	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:2073999C>T	uc003ger.2	-	24	2545	c.2545G>A	c.(2545-2547)GGC>AGC	p.G849S	POLN_uc010icg.1_Missense_Mutation_p.G288S	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	849					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CATGAGCGGCCGGCACTCAGG	0.706								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
ZFYVE28	57732	broad.mit.edu	37	4	2273491	2273491	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:2273491C>T	uc003gex.1	-	11	2658	c.2339G>A	c.(2338-2340)CGG>CAG	p.R780Q	ZFYVE28_uc011bvk.1_Missense_Mutation_p.R710Q|ZFYVE28_uc011bvl.1_Missense_Mutation_p.R750Q|ZFYVE28_uc003gew.1_Missense_Mutation_p.R666Q	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	780					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						GGCCGCACTCCGCAGAGTCTG	0.627												
MFSD10	10227	broad.mit.edu	37	4	2934080	2934080	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:2934080G>A	uc003gfw.2	-	5	1005	c.691C>T	c.(691-693)CGG>TGG	p.R231W	MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_Missense_Mutation_p.R55W|MFSD10_uc003gfz.2_Missense_Mutation_p.R231W|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Missense_Mutation_p.R231W|MFSD10_uc003ggb.1_Missense_Mutation_p.R231W|MFSD10_uc003ggc.2_Missense_Mutation_p.R231W|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	231					apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGCCCTACCCGTTTCTCCAGG	0.622												
RGS12	6002	broad.mit.edu	37	4	3319330	3319330	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:3319330C>T	uc003ggw.2	+	2	2337	c.1433C>T	c.(1432-1434)CCG>CTG	p.P478L	RGS12_uc003ggu.2_Missense_Mutation_p.P478L|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.P478L|RGS12_uc003ggx.1_Missense_Mutation_p.P478L	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	478						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCTTCTGTCCGGACCCCGAA	0.687												
HGFAC	3083	broad.mit.edu	37	4	3443797	3443797	+	Silent	SNP	C	C	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:3443797C>G	uc003ghc.2	+	1	72	c.69C>G	c.(67-69)CTC>CTG	p.L23L	HGFAC_uc010icw.2_Silent_p.L23L	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	23					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716												
HGFAC	3083	broad.mit.edu	37	4	3450979	3450979	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:3450979C>G	uc003ghc.2	+	14	1804	c.1801C>G	c.(1801-1803)CCC>GCC	p.P601A	HGFAC_uc010icw.2_Missense_Mutation_p.P608A	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	601	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTCAGGGGGGCCCCTGGCCTG	0.692												
EVC	2121	broad.mit.edu	37	4	5733255	5733255	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:5733255G>T	uc003gil.1	+	4	672	c.488G>T	c.(487-489)AGC>ATC	p.S163I	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	163					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				AGTCTGGGGAGCCTGAGCCAG	0.607												
MAN2B2	23324	broad.mit.edu	37	4	6599981	6599981	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:6599981C>T	uc003gjf.1	+	9	1341	c.1305C>T	c.(1303-1305)TAC>TAT	p.Y435Y	MAN2B2_uc003gje.1_Silent_p.Y435Y|MAN2B2_uc011bwf.1_Silent_p.Y384Y	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	435					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						GAGACATGTACGCAACGCACC	0.632												
MAN2B2	23324	broad.mit.edu	37	4	6610942	6610942	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:6610942G>T	uc003gjf.1	+	12	1959	c.1923G>T	c.(1921-1923)AAG>AAT	p.K641N	MAN2B2_uc003gje.1_Missense_Mutation_p.K641N|MAN2B2_uc011bwf.1_Missense_Mutation_p.K590N	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	641					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						CACCGGGCAAGGCCGCGGTGC	0.592												
SORCS2	57537	broad.mit.edu	37	4	7533275	7533275	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:7533275G>A	uc003gkb.3	+	3	567	c.567G>A	c.(565-567)ACG>ACA	p.T189T	SORCS2_uc011bwi.1_Silent_p.T17T	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	189	BNR 1.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						ATTTCGGGACGTCCTACACCA	0.602												
CPEB2	132864	broad.mit.edu	37	4	15054156	15054156	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:15054156A>G	uc003gni.1	+	6	1071	c.984A>G	c.(982-984)GAA>GAG	p.E328E	CPEB2_uc003gnj.1_Silent_p.E298E|CPEB2_uc003gnk.1_Silent_p.E336E|CPEB2_uc003gnl.1_Silent_p.E309E|CPEB2_uc003gnm.1_Silent_p.E306E|CPEB2_uc003gnn.1_Silent_p.E301E	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	328					regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						AGCGAATAGAACGCTTCTCTC	0.368												
FGFBP1	9982	broad.mit.edu	37	4	15938205	15938205	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:15938205C>A	uc003gom.2	-	2	169	c.51G>T	c.(49-51)CAG>CAT	p.Q17H		NM_005130	NP_005121	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	17					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding				0						CCAGGAGCACCTGAGCAGCCA	0.512												
GPR125	166647	broad.mit.edu	37	4	22389706	22389706	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:22389706C>T	uc003gqm.1	-	19	3853	c.3588G>A	c.(3586-3588)ACG>ACA	p.T1196T	GPR125_uc010ieo.1_Silent_p.T1052T|GPR125_uc003gql.1_Silent_p.T323T	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	1196	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				CTTCCACGCTCGTTGGGACAT	0.517												
DHX15	1665	broad.mit.edu	37	4	24534668	24534668	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:24534668G>A	uc003gqx.2	-	12	2087	c.1919C>T	c.(1918-1920)TCG>TTG	p.S640L	DHX15_uc003gqv.2_Missense_Mutation_p.S46L|DHX15_uc003gqw.2_Missense_Mutation_p.S63L	NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	640					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				CCACTGAACCGATTCATGATC	0.388												
TLR1	7096	broad.mit.edu	37	4	38799940	38799940	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:38799940T>C	uc003gtl.2	-	4	787	c.513A>G	c.(511-513)TTA>TTG	p.L171L		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	171	Extracellular (Potential).				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5						AAGTCTCTCCTAAGACCAGCA	0.418												
BEND4	389206	broad.mit.edu	37	4	42119657	42119657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:42119657G>A	uc003gwn.2	-	6	2063	c.1483C>T	c.(1483-1485)CGA>TGA	p.R495*	BEND4_uc003gwm.2_3'UTR	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	495	BEN.										0						CGCCCCTGTCGGGCGTGACCG	0.522												
PDGFRA	5156	broad.mit.edu	37	4	54250025	54250025	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:54250025C>T	uc003haa.2	+	5	500	c.314C>T	c.(313-315)ACG>ATG	p.T105M	FIP1L1_uc003gzx.3_Missense_Mutation_p.T90M|FIP1L1_uc011bzt.1_Missense_Mutation_p.T105M|FIP1L1_uc003gzy.2_Missense_Mutation_p.T105M|FIP1L1_uc011bzu.1_Missense_Mutation_p.T90M|FIP1L1_uc003gzz.2_Missense_Mutation_p.T90M|FIP1L1_uc003hab.2_Missense_Mutation_p.T93M|FIP1L1_uc003hac.2_Intron	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	Error:Variant_position_missing_in_P16234_after_alignment					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GACATTAAAACGGGAGCACCA	0.274			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
REST	5978	broad.mit.edu	37	4	57796802	57796802	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:57796802G>A	uc003hch.2	+	4	2125	c.1778G>A	c.(1777-1779)AGT>AAT	p.S593N	REST_uc003hci.2_Missense_Mutation_p.S593N|REST_uc010ihf.2_Missense_Mutation_p.S267N	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	593	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)					AAGAAAAGCAGTAAGCCTCCT	0.453												
EPHA5	2044	broad.mit.edu	37	4	66233108	66233108	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:66233108C>T	uc003hcy.2	-	10	2084	c.1891G>A	c.(1891-1893)GAA>AAA	p.E631K	EPHA5_uc003hcx.2_Missense_Mutation_p.E563K|EPHA5_uc003hcz.2_Missense_Mutation_p.E609K|EPHA5_uc011cah.1_Missense_Mutation_p.E632K|EPHA5_uc011cai.1_Missense_Mutation_p.E610K|EPHA5_uc003hda.2_Missense_Mutation_p.E632K	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	631	Cytoplasmic (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TTTTCCTCTTCTGGATCTTGT	0.358										TSP Lung(17;0.13)		
UGT2B11	10720	broad.mit.edu	37	4	70070285	70070285	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:70070285C>A	uc003heh.2	-	5	1182	c.1173G>T	c.(1171-1173)GTG>GTT	p.V391V	uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	391					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						ATGGAATGCCCACCATAGGGA	0.438												
UTP3	57050	broad.mit.edu	37	4	71554418	71554418	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:71554418C>T	uc003hfo.2	+	1	223	c.24C>T	c.(22-24)CGC>CGT	p.R8R		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit processome component	8					brain development|chromatin modification|gene silencing	nucleolus					0			Lung(101;0.235)			CCCGGCGGCGCGGAGCAGCTA	0.612												
SHROOM3	57619	broad.mit.edu	37	4	77678005	77678005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:77678005C>T	uc011cbx.1	+	8	6066	c.5113C>T	c.(5113-5115)CGA>TGA	p.R1705*	SHROOM3_uc003hkg.2_Nonsense_Mutation_p.R1483*	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1705	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			TTTGTTTCCCCGAGATGTGAA	0.473												
CNOT6L	246175	broad.mit.edu	37	4	78669516	78669516	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:78669516C>T	uc011ccd.1	-	6	644	c.513G>A	c.(511-513)CCG>CCA	p.P171P	CNOT6L_uc003hks.2_Silent_p.P171P|CNOT6L_uc003hkt.1_Silent_p.P14P|CNOT6L_uc011cce.1_Silent_p.P171P	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	171					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1						TCCATGGCCTCGGAGGAAGCT	0.303												
BMP2K	55589	broad.mit.edu	37	4	79832739	79832739	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:79832739G>A	uc003hlk.2	+	16	3204	c.3038G>A	c.(3037-3039)CGC>CAC	p.R1013H	PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	1013						nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						CCTACCTATCGCACTCCAGAG	0.488												
C4orf22	255119	broad.mit.edu	37	4	81256977	81256977	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:81256977G>A	uc003hmf.2	+	1	104	c.55G>A	c.(55-57)GCC>ACC	p.A19T	C4orf22_uc010ijp.2_Missense_Mutation_p.A19T	NM_152770	NP_689983	Q6V702	CD022_HUMAN	hypothetical protein LOC255119	19										skin(2)	2						TCAATTCAACGCCTATGAAGA	0.582											OREG0016247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
COQ2	27235	broad.mit.edu	37	4	84194759	84194759	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:84194759T>C	uc003hog.2	-	3	479	c.471A>G	c.(469-471)ACA>ACG	p.T157T	COQ2_uc011ccp.1_RNA|COQ2_uc003hof.2_RNA|COQ2_uc003hoh.1_Silent_p.T157T	NM_015697	NP_056512	Q96H96	COQ2_HUMAN	para-hydroxybenzoate-polyprenyltransferase,	144					glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity			ovary(1)|central_nervous_system(1)	2		Hepatocellular(203;0.114)				GACGATTGGCTGTTCTTGTAA	0.403												
NHEDC1	150159	broad.mit.edu	37	4	103832695	103832695	+	Splice_Site	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:103832695C>A	uc003hww.2	-	8	952	c.830_splice	c.e8-1	p.G277_splice	NHEDC1_uc003hwu.2_Splice_Site_p.G277_splice|NHEDC1_uc010ilm.2_Splice_Site_p.G44_splice|NHEDC1_uc003hwv.2_Splice_Site|NHEDC1_uc011cev.1_Splice_Site_p.G50_splice	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1							integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)		AGTATACCACCTGTAGGGGCA	0.358												
COL25A1	84570	broad.mit.edu	37	4	110223028	110223028	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:110223028G>T	uc003hze.1	-	2	679	c.148C>A	c.(148-150)CTG>ATG	p.L50M	COL25A1_uc003hzg.2_Missense_Mutation_p.L50M|COL25A1_uc003hzh.1_Missense_Mutation_p.L50M	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	50	Helical; Signal-anchor for type II membrane protein; (Potential).					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCCAGGTACAGGCAAGACACC	0.642												
PITX2	5308	broad.mit.edu	37	4	111539685	111539685	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:111539685G>T	uc003iad.2	-	5	1132	c.550C>A	c.(550-552)CTT>ATT	p.L184I	PITX2_uc003iac.2_Missense_Mutation_p.L191I|PITX2_uc003iae.2_Missense_Mutation_p.L138I|PITX2_uc010iml.2_Missense_Mutation_p.L55I|PITX2_uc003iaf.2_Missense_Mutation_p.L184I	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	184					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCGGATGTAAGGCCCTTGGCG	0.542												
C4orf21	55345	broad.mit.edu	37	4	113524697	113524697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:113524697G>A	uc003iau.2	-	10	3170	c.2959C>T	c.(2959-2961)CAG>TAG	p.Q987*	C4orf21_uc003iaw.2_Nonsense_Mutation_p.Q987*	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AAGTCAATCTGCATACACGTG	0.353												
ANK2	287	broad.mit.edu	37	4	114275426	114275426	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:114275426G>A	uc003ibe.3	+	38	5752	c.5652G>A	c.(5650-5652)TCG>TCA	p.S1884S	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Silent_p.S1899S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1851	Repeat A.|Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TATCACCCTCGACAAAAACTG	0.468												
ANK2	287	broad.mit.edu	37	4	114294462	114294462	+	Missense_Mutation	SNP	C	C	T	rs121912706	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:114294462C>T	uc003ibe.3	+	45	11816	c.11716C>T	c.(11716-11718)CGG>TGG	p.R3906W	ANK2_uc003ibd.3_Missense_Mutation_p.R1812W|ANK2_uc003ibf.3_Missense_Mutation_p.R1821W|ANK2_uc011cgc.1_Missense_Mutation_p.R997W|ANK2_uc003ibg.3_Missense_Mutation_p.R836W|ANK2_uc003ibh.3_Missense_Mutation_p.R526W|ANK2_uc011cgd.1_Missense_Mutation_p.R1208W|ANK2_uc010imr.2_5'UTR|ANK2_uc010ims.2_5'UTR	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3873			R -> W (in LQT4; loss of function).		axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	p.R3906Q(1)		central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATCATTAGGCGGTATGTATC	0.388												
TNIP3	79931	broad.mit.edu	37	4	122078256	122078256	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:122078256C>T	uc010ing.2	-	4	552	c.356G>A	c.(355-357)CGG>CAG	p.R119Q	TNIP3_uc010inh.2_Missense_Mutation_p.R119Q|TNIP3_uc011cgj.1_Missense_Mutation_p.R177Q|TNIP3_uc010ini.2_Missense_Mutation_p.R119Q	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	119	Potential.									ovary(1)	1						CACCTCCTCCCGCTGCAGCCG	0.612												
SPRY1	10252	broad.mit.edu	37	4	124323694	124323694	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:124323694T>C	uc003ifa.2	+	2	1136	c.948T>C	c.(946-948)GGT>GGC	p.G316G	SPRY1_uc003ifb.2_Silent_p.G316G	NM_199327	NP_955359	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling	316					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				skin(2)|ovary(1)	3						GGGGTCAGGGTAAACCATCAT	0.428												
FAT4	79633	broad.mit.edu	37	4	126238513	126238513	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:126238513G>A	uc003ifj.3	+	1	947	c.947G>A	c.(946-948)CGG>CAG	p.R316Q		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	316	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTCGAAGCTCGGCGCCAATAC	0.632											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SCLT1	132320	broad.mit.edu	37	4	129891618	129891618	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:129891618G>T	uc003igp.2	-	10	1198	c.692C>A	c.(691-693)GCC>GAC	p.A231D	SCLT1_uc003ign.2_5'UTR|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	sodium channel associated protein 1	231	Potential.					centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5						CTCTAATTTGGCTTGCCTAAA	0.303												
PCDH10	57575	broad.mit.edu	37	4	134071702	134071702	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:134071702C>T	uc003iha.2	+	1	1233	c.407C>T	c.(406-408)ACG>ATG	p.T136M	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.T136M	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	136	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGAGCGCCACGCCAGGCACT	0.602												
PCDH10	57575	broad.mit.edu	37	4	134071743	134071743	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:134071743G>A	uc003iha.2	+	1	1274	c.448G>A	c.(448-450)GAC>AAC	p.D150N	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D150N	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	150	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTCGACCCAGACGTGGGCAC	0.622												
PCDH10	57575	broad.mit.edu	37	4	134073210	134073210	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:134073210C>T	uc003iha.2	+	1	2741	c.1915C>T	c.(1915-1917)CGC>TGC	p.R639C	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R639C	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	639	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGGGAGCTGCGCACAGCACG	0.677												
PCDH10	57575	broad.mit.edu	37	4	134073362	134073362	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:134073362C>T	uc003iha.2	+	1	2893	c.2067C>T	c.(2065-2067)GGC>GGT	p.G689G	PCDH10_uc003igz.2_Silent_p.G689G	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	689	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		Agggcgggggcgggagcggag	0.582												
DCLK2	166614	broad.mit.edu	37	4	151141893	151141893	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:151141893C>T	uc003ilm.3	+	6	1195	c.1095C>T	c.(1093-1095)AAC>AAT	p.N365N	DCLK2_uc003iln.3_Silent_p.N364N|DCLK2_uc003ilo.3_Silent_p.N382N|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	365					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					CCAATGTAAACGGTGGACCTG	0.418												
MAB21L2	10586	broad.mit.edu	37	4	151504537	151504537	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:151504537C>T	uc003ilw.2	+	1	1461	c.356C>T	c.(355-357)GCG>GTG	p.A119V	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	119					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TTCATCACGGCGTCGGGCTAT	0.612												
FBXW7	55294	broad.mit.edu	37	4	153258955	153258955	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:153258955T>A	uc003ims.2	-	5	1009	c.860A>T	c.(859-861)GAG>GTG	p.E287V	FBXW7_uc011cii.1_Missense_Mutation_p.E287V|FBXW7_uc003imt.2_Missense_Mutation_p.E287V|FBXW7_uc011cih.1_Missense_Mutation_p.E111V|FBXW7_uc003imq.2_Missense_Mutation_p.E207V|FBXW7_uc003imr.2_Missense_Mutation_p.E169V	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	287	F-box.				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			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)				AATCTTTACCTCTTTAGGGAG	0.343			Mis|N|D|F		colorectal|endometrial|T-ALL							
TMEM154	201799	broad.mit.edu	37	4	153573938	153573938	+	Missense_Mutation	SNP	G	G	A	rs147009220		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:153573938G>A	uc003imw.1	-	2	312	c.206C>T	c.(205-207)CCG>CTG	p.P69L		NM_152680	NP_689893	Q6P9G4	TM154_HUMAN	transmembrane protein 154 precursor	69	Extracellular (Potential).					integral to membrane					0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ATTTTCATCCGGAGCAAAGTT	0.338												
SFRP2	6423	broad.mit.edu	37	4	154709514	154709514	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:154709514G>A	uc003inv.1	-	1	715	c.474C>T	c.(472-474)AGC>AGT	p.S158S		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	158					brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				GGAGGTGGTCGCTGCTAGCGA	0.667												
PLRG1	5356	broad.mit.edu	37	4	155458475	155458475	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:155458475T>C	uc003iny.2	-	14	1511	c.1448A>G	c.(1447-1449)GAT>GGT	p.D483G	PLRG1_uc003inz.2_Missense_Mutation_p.D474G	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	483	WD 7.					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)				AATGGTTTTATCAGCTTCAGC	0.403												
CTSO	1519	broad.mit.edu	37	4	156849509	156849509	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:156849509T>C	uc003ipg.2	-	7	959	c.910A>G	c.(910-912)AAA>GAA	p.K304E		NM_001334	NP_001325	P43234	CATO_HUMAN	cathepsin O preproprotein	304					proteolysis	lysosome	cysteine-type endopeptidase activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CTTCCCATTTTGACATGGGCA	0.343												
GRIA2	2891	broad.mit.edu	37	4	158254082	158254082	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:158254082G>T	uc003ipm.3	+	7	1453	c.994G>T	c.(994-996)GCA>TCA	p.A332S	GRIA2_uc011cit.1_Missense_Mutation_p.A285S|GRIA2_uc003ipl.3_Missense_Mutation_p.A332S|GRIA2_uc003ipk.3_Missense_Mutation_p.A285S|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	332	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGACTGTCTGGCAAACCCAGC	0.473												
NAF1	92345	broad.mit.edu	37	4	164050264	164050264	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:164050264A>G	uc003iqj.2	-	8	1464	c.1270T>C	c.(1270-1272)TTT>CTT	p.F424L	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 homolog isoform a	424	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			ovary(2)	2	all_hematologic(180;0.166)	Prostate(90;0.109)				GGAAGAGGAAAGGGGTATTGT	0.378												
TKTL2	84076	broad.mit.edu	37	4	164393458	164393458	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:164393458T>C	uc003iqp.3	-	1	1590	c.1429A>G	c.(1429-1431)AGC>GGC	p.S477G		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	477						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTGGTTGGCTGGTTCGAATG	0.443												
TKTL2	84076	broad.mit.edu	37	4	164394838	164394838	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:164394838G>A	uc003iqp.3	-	1	210	c.49C>T	c.(49-51)CGG>TGG	p.R17W		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	17						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCTGTGTCCCGCAGCACCTGC	0.632												
SH3RF1	57630	broad.mit.edu	37	4	170038835	170038835	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:170038835G>T	uc003isa.1	-	9	1951	c.1616C>A	c.(1615-1617)CCT>CAT	p.P539H	SH3RF1_uc010irc.1_Missense_Mutation_p.P239H	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	539	Interaction with AKT2 (By similarity).					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTTCTGGGCAGGCCCTCCTGC	0.587												
GPM6A	2823	broad.mit.edu	37	4	176594945	176594945	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:176594945C>T	uc003iuf.2	-	3	1077	c.273G>A	c.(271-273)GCG>GCA	p.A91A	GPM6A_uc011ckj.1_Silent_p.A84A|GPM6A_uc003iug.2_Silent_p.A91A|GPM6A_uc003iuh.2_Silent_p.A80A	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	91	Helical; (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ACACAAAGAACGCAGCTGCGA	0.408												
NEIL3	55247	broad.mit.edu	37	4	178262744	178262744	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:178262744A>T	uc003iut.2	+	6	934	c.817A>T	c.(817-819)ACA>TCA	p.T273S	NEIL3_uc010irs.2_Intron	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	273	FPG-type.				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TAACAGAATGACATATTTCTG	0.388								BER_DNA_glycosylases				
PDLIM3	27295	broad.mit.edu	37	4	186444541	186444541	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:186444541T>C	uc003ixw.3	-	3	429	c.305A>G	c.(304-306)AAA>AGA	p.K102R	PDLIM3_uc003ixx.3_Missense_Mutation_p.K102R|PDLIM3_uc010isi.2_RNA|PDLIM3_uc003ixy.2_Missense_Mutation_p.K102R|PDLIM3_uc003ixz.2_Missense_Mutation_p.K102R	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain protein 3 isoform a	102						sarcomere	zinc ion binding			ovary(2)	2		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TAAGTTGATTTTGAAAGGATG	0.373												
SORBS2	8470	broad.mit.edu	37	4	186544768	186544768	+	Silent	SNP	G	G	A	rs140964722	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:186544768G>A	uc003iyl.2	-	13	2661	c.1803C>T	c.(1801-1803)GAC>GAT	p.D601D	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.D701D|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.D505D|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.D715D|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	601						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ACACAACCCCGTCCTGGTCGC	0.552												
TUBB4Q	56604	broad.mit.edu	37	4	190905501	190905501	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:190905501G>A	uc011clg.1	-	3	186	c.183C>T	c.(181-183)CGC>CGT	p.R61R		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	62					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)		CGAGCACAGCGCGGGACACGT	0.701												
SLC6A18	348932	broad.mit.edu	37	5	1242892	1242892	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:1242892G>A	uc003jby.1	+	8	1168	c.1045G>A	c.(1045-1047)GTC>ATC	p.V349I		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	349	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTACCCAGCCGTCCTCATGCA	0.597												
KIAA0947	23379	broad.mit.edu	37	5	5461196	5461196	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:5461196C>T	uc003jdm.3	+	13	1971	c.1749C>T	c.(1747-1749)GGC>GGT	p.G583G		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	583										ovary(1)|central_nervous_system(1)	2						CAGTTTCTGGCCATTTTCACA	0.398												
SEMA5A	9037	broad.mit.edu	37	5	9136666	9136666	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:9136666C>G	uc003jek.2	-	13	2261	c.1549G>C	c.(1549-1551)GAG>CAG	p.E517Q		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	517	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						AGGCTCTCCTCCAGGCTTGTG	0.552												
DNAH5	1767	broad.mit.edu	37	5	13781014	13781014	+	Missense_Mutation	SNP	C	C	T	rs147443285		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:13781014C>T	uc003jfd.2	-	53	8917	c.8875G>A	c.(8875-8877)GGA>AGA	p.G2959R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2959	AAA 4 (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)					TTTCCTGATCCGCCCACCCCG	0.458									Kartagener_syndrome			
FBXL7	23194	broad.mit.edu	37	5	15928421	15928421	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:15928421G>A	uc003jfn.1	+	3	1031	c.550G>A	c.(550-552)GTG>ATG	p.V184M		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	184	LRR 1.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CACCCCCAACGTGTGTCTCAT	0.647												
RNASEN	29102	broad.mit.edu	37	5	31401627	31401627	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:31401627C>T	uc003jhg.2	-	35	4396	c.4037G>A	c.(4036-4038)CGG>CAG	p.R1346Q	RNASEN_uc003jhh.2_Missense_Mutation_p.R1309Q	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	1346	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0						TCTGTACTTCCGTTCGATGAA	0.368												
PDZD2	23037	broad.mit.edu	37	5	32058054	32058054	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:32058054C>T	uc003jhl.2	+	12	2433	c.2045C>T	c.(2044-2046)TCG>TTG	p.S682L	PDZD2_uc003jhm.2_Missense_Mutation_p.S682L|PDZD2_uc011cnx.1_Missense_Mutation_p.S508L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	682					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						ACACCCTGCTCGACACCCACA	0.547											OREG0016543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ADAMTS12	81792	broad.mit.edu	37	5	33614441	33614441	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:33614441T>C	uc003jia.1	-	16	2592	c.2429A>G	c.(2428-2430)TAC>TGC	p.Y810C	ADAMTS12_uc010iuq.1_Missense_Mutation_p.Y725C	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	810	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CTGGATTGTGTACTCATACTT	0.478										HNSCC(64;0.19)		
RXFP3	51289	broad.mit.edu	37	5	33936796	33936796	+	Translation_Start_Site	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:33936796G>A	uc003jic.1	+	1	308	c.-49G>A	c.(-51--47)CCGTG>CCATG			NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3							integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						GGGGTAAACCGTGTTATCTTA	0.557												
NIPBL	25836	broad.mit.edu	37	5	36962233	36962233	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:36962233T>C	uc003jkl.3	+	6	966	c.467T>C	c.(466-468)GTG>GCG	p.V156A	NIPBL_uc003jkk.3_Missense_Mutation_p.V156A|NIPBL_uc003jkm.1_Missense_Mutation_p.V35A	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	156					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)			AGCCGGTTTGTGCCACCACAG	0.428												
LIFR	3977	broad.mit.edu	37	5	38482286	38482286	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:38482286G>T	uc010ive.1	-	20	3037	c.2705C>A	c.(2704-2706)CCT>CAT	p.P902H	LIFR_uc003jli.2_Missense_Mutation_p.P902H	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	902	Cytoplasmic (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TGGGGTACAAGGATTCATTTC	0.363			T	PLAG1	salivary adenoma							
OSMR	9180	broad.mit.edu	37	5	38876360	38876360	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:38876360C>T	uc003jln.1	+	3	498	c.131C>T	c.(130-132)ACG>ATG	p.T44M	OSMR_uc003jlm.1_Missense_Mutation_p.T44M	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	44	Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					ACCAATTCTACGCGTCAGAGT	0.368												
FYB	2533	broad.mit.edu	37	5	39202444	39202444	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:39202444C>T	uc003jls.2	-	1	686	c.619G>A	c.(619-621)GAG>AAG	p.E207K	FYB_uc003jlt.2_Missense_Mutation_p.E207K|FYB_uc003jlu.2_Missense_Mutation_p.E207K|FYB_uc011cpl.1_Missense_Mutation_p.E217K	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	207					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGGAGTTCTCGGTACTTAGG	0.527												
FGF10	2255	broad.mit.edu	37	5	44388464	44388464	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:44388464C>T	uc003jog.1	-	1	321	c.321G>A	c.(319-321)CCG>CCA	p.P107P		NM_004465	NP_004456	O15520	FGF10_HUMAN	fibroblast growth factor 10 precursor	107					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			lung(3)	3	Lung NSC(6;1.12e-06)					ACTTACTGTACGGGCAGTTCT	0.488												
HCN1	348980	broad.mit.edu	37	5	45262443	45262443	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:45262443C>T	uc003jok.2	-	8	2278	c.2253G>A	c.(2251-2253)CCG>CCA	p.P751P		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	751	Gln-rich.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GCTGCGGGGACGgctgctgtg	0.428												
HCN1	348980	broad.mit.edu	37	5	45462087	45462087	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:45462087A>C	uc003jok.2	-	3	897	c.872T>G	c.(871-873)CTC>CGC	p.L291R		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	291	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TGCACTGGCGAGATCATATGT	0.383												
GZMK	3003	broad.mit.edu	37	5	54320634	54320634	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:54320634C>T	uc003jpl.1	+	2	255	c.211C>T	c.(211-213)CGG>TGG	p.R71W		NM_002104	NP_002095	P49863	GRAK_HUMAN	granzyme K precursor	71	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTGCCAATATCGGTGAGTCCT	0.458												
TRIM23	373	broad.mit.edu	37	5	64905171	64905171	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:64905171G>A	uc003jty.2	-	6	1029	c.943C>T	c.(943-945)CGT>TGT	p.R315C	TRIM23_uc003jtw.2_Missense_Mutation_p.R315C|TRIM23_uc003jtx.2_Missense_Mutation_p.R315C	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	315					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AATTTTTCACGAACATGAGCA	0.413												
MAST4	375449	broad.mit.edu	37	5	66462647	66462647	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:66462647G>A	uc003jut.1	+	28	7141	c.7073G>A	c.(7072-7074)CGG>CAG	p.R2358Q	MAST4_uc003juw.2_Missense_Mutation_p.R2286Q|MAST4_uc003jux.2_Missense_Mutation_p.R111Q	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	2550						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCAGCCACCGGGACAGGGCT	0.647												
BDP1	55814	broad.mit.edu	37	5	70798603	70798603	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:70798603C>T	uc003kbp.1	+	15	2489	c.2226C>T	c.(2224-2226)TCC>TCT	p.S742S	BDP1_uc003kbn.1_Silent_p.S742S|BDP1_uc003kbo.2_Silent_p.S742S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	742					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)		AAAATGAATCCTGTGCTGATA	0.368												
CARTPT	9607	broad.mit.edu	37	5	71015134	71015134	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:71015134G>A	uc003kbv.1	+	1	141	c.14G>A	c.(13-15)CGC>CAC	p.R5H		NM_004291	NP_004282	Q16568	CART_HUMAN	cocaine- and amphetamine-regulated transcript	5					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				ovary(1)	1		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	GAGAGCTCCCGCGTGAGGCTG	0.672												
SV2C	22987	broad.mit.edu	37	5	75428079	75428079	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:75428079G>T	uc003kei.1	+	2	638	c.504G>T	c.(502-504)GAG>GAT	p.E168D		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	168	Helical; (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ACGGTGTAGAGGTGTTTGTCG	0.527												
PDE8B	8622	broad.mit.edu	37	5	76707503	76707503	+	Silent	SNP	C	C	T	rs148282450		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:76707503C>T	uc003kfa.2	+	15	1578	c.1533C>T	c.(1531-1533)GAC>GAT	p.D511D	PDE8B_uc003kfb.2_Silent_p.D491D|PDE8B_uc003kfc.2_Silent_p.D456D|PDE8B_uc003kfd.2_Silent_p.D464D|PDE8B_uc003kfe.2_Silent_p.D414D	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	511					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TATTCCAGGACGGCTTGAGAA	0.358												
THBS4	7060	broad.mit.edu	37	5	79368169	79368169	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:79368169G>T	uc003kgh.2	+	15	2112	c.1789G>T	c.(1789-1791)GGT>TGT	p.G597C	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	597	TSP type-3 5.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGATGGTGATGGTGTGGGGGA	0.473												
SERINC5	256987	broad.mit.edu	37	5	79446741	79446741	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:79446741G>A	uc003kgj.2	-	9	1146	c.1017C>T	c.(1015-1017)GAC>GAT	p.D339D	SERINC5_uc003kgk.2_Silent_p.D337D|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Silent_p.D339D|SERINC5_uc011ctj.1_Silent_p.D339D	NM_178276	NP_840060	Q86VE9	SERC5_HUMAN	developmentally regulated protein TPO1	339	Extracellular (Potential).				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CCTGCAGAGCGTCAGAACTCG	0.453												
SERINC5	256987	broad.mit.edu	37	5	79498851	79498851	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:79498851C>T	uc003kgj.2	-	2	178	c.49G>A	c.(49-51)GCA>ACA	p.A17T	SERINC5_uc003kgk.2_Missense_Mutation_p.A17T|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.A17T|SERINC5_uc011ctj.1_Missense_Mutation_p.A17T	NM_178276	NP_840060	Q86VE9	SERC5_HUMAN	developmentally regulated protein TPO1	17	Extracellular (Potential).|Cys-rich.				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GAGCAGCCTGCAGACCCACAG	0.483												
MSH3	4437	broad.mit.edu	37	5	79966006	79966006	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:79966006C>T	uc003kgz.2	+	4	923	c.670C>T	c.(670-672)CGG>TGG	p.R224W		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	224	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AGCTAACAAACGGTCCAAAAG	0.378								MMR				
VCAN	1462	broad.mit.edu	37	5	82836308	82836308	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:82836308A>G	uc003kii.3	+	8	7842	c.7486A>G	c.(7486-7488)AAC>GAC	p.N2496D	VCAN_uc003kij.3_Missense_Mutation_p.N1509D|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.N1160D	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2496	GAG-beta.				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)		TTCAGAGCAGAACAAAAGCTC	0.483												
GPR98	84059	broad.mit.edu	37	5	90086922	90086922	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:90086922A>G	uc003kju.2	+	70	14372	c.14276A>G	c.(14275-14277)GAC>GGC	p.D4759G	GPR98_uc003kjt.2_Missense_Mutation_p.D2465G|GPR98_uc003kjw.2_Missense_Mutation_p.D420G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4759	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCAAATGATGACCCACATGGA	0.438												
NR2F1	7025	broad.mit.edu	37	5	92923984	92923984	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:92923984G>A	uc003kkj.2	+	2	2512	c.825G>A	c.(823-825)CCG>CCA	p.P275P		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	275					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ACGTGGCGCCGTTGCTGGCCG	0.662												
ELL2	22936	broad.mit.edu	37	5	95233979	95233979	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:95233979G>A	uc003klr.3	-	8	1840	c.1490C>T	c.(1489-1491)GCC>GTC	p.A497V		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	497					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		ATTTAGCTTGGCAATTTCCTC	0.348												
ERAP1	51752	broad.mit.edu	37	5	96116880	96116880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:96116880C>A	uc003kmm.2	-	17	2817	c.2470G>T	c.(2470-2472)GGA>TGA	p.G824*	ERAP1_uc003kml.2_Nonsense_Mutation_p.G824*|ERAP1_uc010jbm.1_Nonsense_Mutation_p.G636*|ERAP1_uc003kmn.2_Nonsense_Mutation_p.G824*	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	824	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		ATTTTATCTCCCTTAAAGCTT	0.368												
LNPEP	4012	broad.mit.edu	37	5	96358076	96358076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:96358076C>T	uc003kmv.1	+	14	2963	c.2449C>T	c.(2449-2451)CGA>TGA	p.R817*	LNPEP_uc003kmw.1_Nonsense_Mutation_p.R803*	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	817	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TCCATCTATGCGAGAGCTTCG	0.438												
TSSK1B	83942	broad.mit.edu	37	5	112770134	112770134	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:112770134G>A	uc003kqm.2	-	1	595	c.403C>T	c.(403-405)CGG>TGG	p.R135W	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	135	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TTGAGGTCCCGGTGGACGACG	0.562												
KCNN2	3781	broad.mit.edu	37	5	113698896	113698896	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:113698896G>A	uc003kqo.2	+	1	881	c.424G>A	c.(424-426)GGC>AGC	p.G142S		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	142	Helical; Name=Segment S1; (Potential).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GCTCATCTTCGGCATGTTCGG	0.607												
FEM1C	56929	broad.mit.edu	37	5	114878754	114878754	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:114878754T>C	uc003krb.1	-	2	999	c.437A>G	c.(436-438)AAC>AGC	p.N146S		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	146						cytoplasm				breast(2)|ovary(1)	3		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CCCATGTCGGTTTGACACTTC	0.393												
AQPEP	206338	broad.mit.edu	37	5	115336319	115336319	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:115336319C>T	uc003kro.2	+	9	1775	c.1611C>T	c.(1609-1611)AAC>AAT	p.N537N	AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	537	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						CCTACTCAAACGCTGAGCAAG	0.348												
PHAX	51808	broad.mit.edu	37	5	125939415	125939415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:125939415C>T	uc003kua.1	+	2	272	c.250C>T	c.(250-252)CGA>TGA	p.R84*		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	RNA U, small nuclear RNA export adaptor	84	Necessary for interaction with CBP80 (By similarity).|Nuclear localization signal (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding				0						GAAACGCAAACGACAGAAATG	0.418												
FBN2	2201	broad.mit.edu	37	5	127624846	127624846	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:127624846G>A	uc003kuu.2	-	52	7049	c.6610C>T	c.(6610-6612)CTT>TTT	p.L2204F		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2204	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTGTAGTCAAGGTTGTAGCCC	0.423												
SLC22A5	6584	broad.mit.edu	37	5	131721153	131721153	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:131721153G>A	uc003kww.3	+	4	1050	c.786G>A	c.(784-786)GCG>GCA	p.A262A	SLC22A5_uc003kwx.3_Silent_p.A286A|SLC22A5_uc010jdr.1_5'UTR	NM_003060	NP_003051	O76082	S22A5_HUMAN	solute carrier family 22 member 5	262	Helical; Name=6; (Potential).				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity				0		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGCTGGTGGCGCTGACGATGC	0.537											OREG0016766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AFF4	27125	broad.mit.edu	37	5	132223801	132223801	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:132223801A>G	uc003kyd.2	-	15	3192	c.2784T>C	c.(2782-2784)AAT>AAC	p.N928N	AFF4_uc011cxk.1_Silent_p.N606N	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	928					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCATCTGCATTGTGCTTTA	0.274												
SEC24A	10802	broad.mit.edu	37	5	134022491	134022491	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:134022491T>C	uc003kzs.2	+	10	1791	c.1503T>C	c.(1501-1503)CCT>CCC	p.P501P	SEC24A_uc011cxu.1_Silent_p.P265P	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	501					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACGACCACCTCAGCCTCCAG	0.348												
H2AFY	9555	broad.mit.edu	37	5	134724631	134724631	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:134724631G>A	uc003lam.1	-	2	363	c.153C>T	c.(151-153)GCC>GCT	p.A51A	H2AFY_uc003lao.1_Silent_p.A51A|H2AFY_uc003lan.1_Silent_p.A51A|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Silent_p.A51A|H2AFY_uc003las.1_Silent_p.A51A|H2AFY_uc003lat.1_Silent_p.A51A	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	51	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTCCAGGACGGCGGCCATGT	0.532												
CTNNA1	1495	broad.mit.edu	37	5	138269587	138269587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:138269587C>T	uc003ldh.2	+	18	2625	c.2530C>T	c.(2530-2532)CAA>TAA	p.Q844*	CTNNA1_uc011cyx.1_Nonsense_Mutation_p.Q741*|CTNNA1_uc011cyy.1_Nonsense_Mutation_p.Q721*|CTNNA1_uc003ldi.2_Nonsense_Mutation_p.Q542*|CTNNA1_uc003ldj.2_3'UTR|CTNNA1_uc003ldl.2_Nonsense_Mutation_p.Q474*	NM_001903	NP_001894	P35221	CTNA1_HUMAN	catenin, alpha 1	844					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TACCAAATACCAAAAGTCACA	0.507												
PSD2	84249	broad.mit.edu	37	5	139192937	139192937	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:139192937G>A	uc003leu.1	+	3	620	c.415G>A	c.(415-417)GCC>ACC	p.A139T		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	139					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTTCAGCGCCACGTTTGA	0.617												
CD14	929	broad.mit.edu	37	5	140011861	140011861	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140011861C>T	uc003lgi.1	-	2	1062	c.708G>A	c.(706-708)ACG>ACA	p.T236T	CD14_uc003lgj.1_Silent_p.T236T	NM_000591	NP_000582	P08571	CD14_HUMAN	CD14 antigen precursor	236	LRR 7.				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGTGGGCGTCTCCATTC	0.652												
PCDHA4	56144	broad.mit.edu	37	5	140188395	140188395	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140188395C>T	uc003lhi.2	+	1	1724	c.1623C>T	c.(1621-1623)GGC>GGT	p.G541G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.G541G|PCDHA4_uc011daa.1_Silent_p.G541G	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	541	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGATGCCGGCGTGCCACCTC	0.657												
PCDHA5	56143	broad.mit.edu	37	5	140203028	140203028	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140203028C>T	uc003lhl.2	+	1	1668	c.1668C>T	c.(1666-1668)GAC>GAT	p.D556D	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_Silent_p.D556D|PCDHA5_uc003lhj.1_Silent_p.D556D	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	556	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.706												
PCDHA8	56140	broad.mit.edu	37	5	140222193	140222193	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140222193C>T	uc003lhs.2	+	1	1287	c.1287C>T	c.(1285-1287)GAC>GAT	p.D429D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.D429D	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	429	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGCGGGACGGGGGCTCGC	0.637												
PCDHA9	9752	broad.mit.edu	37	5	140229559	140229559	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140229559G>A	uc003lhu.2	+	1	2203	c.1479G>A	c.(1477-1479)TCG>TCA	p.S493S	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_Silent_p.S493S	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	493	Cadherin 5.|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)			TGTCCTACTCGCTGGTGGAGC	0.667												
PCDHAC1	56135	broad.mit.edu	37	5	140307102	140307102	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140307102G>A	uc003lih.2	+	1	801	c.625G>A	c.(625-627)GGG>AGG	p.G209R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.G209R	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	209	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGGACGGCGGGCTACCTGC	0.602												
PCDHAC1	56135	broad.mit.edu	37	5	140308685	140308685	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140308685C>A	uc003lih.2	+	1	2384	c.2208C>A	c.(2206-2208)TGC>TGA	p.C736*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Nonsense_Mutation_p.C736*	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	736	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATCCTTGCATGACATCAG	0.478												
PCDHB10	56126	broad.mit.edu	37	5	140573799	140573799	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140573799G>A	uc003lix.2	+	1	1848	c.1674G>A	c.(1672-1674)TCG>TCA	p.S558S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	558	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGACAACTCGCCCTTCGTGC	0.721												
PCDHB15	56121	broad.mit.edu	37	5	140625739	140625739	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140625739C>T	uc003lje.2	+	1	593	c.593C>T	c.(592-594)ACA>ATA	p.T198I		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	198	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTGGACACAGAACTGGAT	0.527												
PCDHGA6	56109	broad.mit.edu	37	5	140753888	140753888	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140753888C>T	uc003ljy.1	+	1	238	c.238C>T	c.(238-240)CGA>TGA	p.R80*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Nonsense_Mutation_p.R80*	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	80	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAATCCGCGAAACGGCAG	0.577												
PCDHGA9	56107	broad.mit.edu	37	5	140782735	140782735	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140782735G>A	uc003lkh.1	+	1	216	c.216G>A	c.(214-216)ACG>ACA	p.T72T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.T72T	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	72	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTAGGACGCAGCTTTTCT	0.622												
PCDHGB6	56100	broad.mit.edu	37	5	140789448	140789448	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140789448C>T	uc003lkj.1	+	1	1679	c.1679C>T	c.(1678-1680)CCG>CTG	p.P560L	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_Missense_Mutation_p.P560L	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	560	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAACGCACCGCGGGTGCTG	0.662												
PCDHGC3	5098	broad.mit.edu	37	5	140856586	140856586	+	Silent	SNP	C	C	T	rs148675327		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140856586C>T	uc003lkv.1	+	1	1018	c.903C>T	c.(901-903)ACC>ACT	p.T301T	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_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.T301T|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	301	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTTGTAACCGGGATGCTGA	0.552												
PCDH12	51294	broad.mit.edu	37	5	141335577	141335577	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:141335577G>A	uc003llx.2	-	1	3051	c.1840C>T	c.(1840-1842)CGG>TGG	p.R614W		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	614	Cadherin 6.|Extracellular (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAATGGCCGGGAGCTGTGA	0.592												
SH3RF2	153769	broad.mit.edu	37	5	145439648	145439648	+	Missense_Mutation	SNP	G	G	A	rs112543445		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:145439648G>A	uc003lnt.2	+	9	2013	c.1775G>A	c.(1774-1776)CGG>CAG	p.R592Q	SH3RF2_uc011dbl.1_Nonsense_Mutation_p.W592*|SH3RF2_uc011dbm.1_Nonsense_Mutation_p.W77*|SH3RF2_uc003lnu.2_Nonsense_Mutation_p.W83*|SH3RF2_uc011dbn.1_Nonsense_Mutation_p.W83*|SH3RF2_uc011dbo.1_Nonsense_Mutation_p.W49*	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	592							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGAGGCCTGGATCCACTCC	0.637												
TCERG1	10915	broad.mit.edu	37	5	145838593	145838593	+	Silent	SNP	G	G	A	rs140816235	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:145838593G>A	uc003lob.2	+	4	625	c.585G>A	c.(583-585)GCG>GCA	p.A195A	TCERG1_uc003loc.2_Silent_p.A195A|TCERG1_uc011dbt.1_Silent_p.A195A	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	195	Potential.|Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aggcccaggcgcaggctcagg	0.104												
TCERG1	10915	broad.mit.edu	37	5	145838596	145838596	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:145838596G>A	uc003lob.2	+	4	628	c.588G>A	c.(586-588)CAG>CAA	p.Q196Q	TCERG1_uc003loc.2_Silent_p.Q196Q|TCERG1_uc011dbt.1_Silent_p.Q196Q	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	196	Potential.|Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaggcgcaggctcaggccc	0.095												
SLC36A3	285641	broad.mit.edu	37	5	150660642	150660642	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:150660642G>A	uc003ltw.2	-	9	1496	c.1077C>T	c.(1075-1077)TCC>TCT	p.S359S	GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.S344S|SLC36A3_uc003ltx.2_Silent_p.S400S	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3 isoform 2	359	Cytoplasmic (Potential).					integral to membrane				ovary(2)|skin(1)	3		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGACACTTGGGAGATGGCAA	0.507												
FAT2	2196	broad.mit.edu	37	5	150891874	150891874	+	Silent	SNP	G	G	A	rs138511375	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:150891874G>A	uc003lue.3	-	20	11770	c.11757C>T	c.(11755-11757)AAC>AAT	p.N3919N	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.N526N	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3919	Extracellular (Potential).|Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCCTCTTCGTTGACCACGA	0.602												
GEMIN5	25929	broad.mit.edu	37	5	154287348	154287348	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:154287348C>T	uc003lvx.3	-	16	2281	c.2198G>A	c.(2197-2199)CGG>CAG	p.R733Q	GEMIN5_uc011ddk.1_Missense_Mutation_p.R732Q	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	733					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGAGAGAGCCGTTTTTTCTC	0.378												
CCNJL	79616	broad.mit.edu	37	5	159738888	159738888	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:159738888C>T	uc003lyb.1	-	2	295	c.43G>A	c.(43-45)GTC>ATC	p.V15I	CCNJL_uc011dee.1_Missense_Mutation_p.V15I|CCNJL_uc003lyc.1_Intron|CCNJL_uc011def.1_Missense_Mutation_p.V15I	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	15	Cyclin N-terminal.					nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGCAGTGGACGTCCGAGGCG	0.647												
GABRB2	2561	broad.mit.edu	37	5	160763740	160763740	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:160763740C>T	uc003lys.1	-	7	796	c.578G>A	c.(577-579)CGT>CAT	p.R193H	GABRB2_uc011deh.1_Missense_Mutation_p.R32H|GABRB2_uc003lyr.1_Missense_Mutation_p.R193H|GABRB2_uc003lyt.1_Missense_Mutation_p.R193H|GABRB2_uc010jiu.1_Missense_Mutation_p.R130H	NM_021911	NP_068711	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	193	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATCATCGCCACGCCAGTAAAA	0.279												
ODZ2	57451	broad.mit.edu	37	5	167673928	167673928	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:167673928C>T	uc010jjd.2	+	27	5957	c.5957C>T	c.(5956-5958)TCG>TTG	p.S1986L	ODZ2_uc003lzr.3_Missense_Mutation_p.S1756L|ODZ2_uc003lzt.3_Missense_Mutation_p.S1359L|ODZ2_uc010jje.2_Missense_Mutation_p.S1250L	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGCAATGCTTCGGTCATCTTT	0.537												
DOCK2	1794	broad.mit.edu	37	5	169116325	169116325	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:169116325G>C	uc003maf.2	+	9	911	c.831G>C	c.(829-831)AAG>AAC	p.K277N	DOCK2_uc011der.1_RNA	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	277					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAATCTGAAGGTGGTCTTCA	0.542												
FOXI1	2299	broad.mit.edu	37	5	169533117	169533117	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:169533117C>T	uc003mai.3	+	1	201	c.156C>T	c.(154-156)GGC>GGT	p.G52G	FOXI1_uc003maj.3_Silent_p.G52G	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	52	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCGAGGGGGGCGGCGAGTATG	0.687									Pendred_syndrome			
FGF18	8817	broad.mit.edu	37	5	170883662	170883662	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:170883662G>A	uc003mbk.2	+	5	1014	c.477G>A	c.(475-477)CCG>CCA	p.P159P		NM_003862	NP_003853	O76093	FGF18_HUMAN	fibroblast growth factor 18 precursor	159					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)			AGGGGCGGCCGCGGAAGGGCC	0.592												
FBXW11	23291	broad.mit.edu	37	5	171337640	171337640	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:171337640C>T	uc003mbm.1	-	3	680	c.309G>A	c.(307-309)CAG>CAA	p.Q103Q	FBXW11_uc011dey.1_Silent_p.Q71Q|FBXW11_uc003mbl.1_Silent_p.Q90Q|FBXW11_uc003mbn.1_Silent_p.Q69Q	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	103	Homodimerization domain D (By similarity).				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.N260_I262(1)		ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TATGTCCATGCTGATAATGAC	0.373												
BOD1	91272	broad.mit.edu	37	5	173036293	173036293	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:173036293A>G	uc003mcq.2	-	3	734	c.507T>C	c.(505-507)CCT>CCC	p.P169P	BOD1_uc003mcr.2_Intron	NM_138369	NP_612378	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	169					cell division|mitosis	condensed chromosome kinetochore|microtubule organizing center				ovary(2)	2						CGGGCTCTGGAGGGGGTGCTG	0.527												
CDHR2	54825	broad.mit.edu	37	5	175998265	175998265	+	Missense_Mutation	SNP	G	G	A	rs142176546		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:175998265G>A	uc003mem.1	+	6	433	c.367G>A	c.(367-369)GTT>ATT	p.V123I	CDHR2_uc003men.1_Missense_Mutation_p.V123I	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	123	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						CAACGCACCCGTTTTCCAGAA	0.522												
CDHR2	54825	broad.mit.edu	37	5	176004426	176004426	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:176004426G>A	uc003mem.1	+	13	1287	c.1221G>A	c.(1219-1221)TCG>TCA	p.S407S	CDHR2_uc003men.1_Silent_p.S407S	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	407	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TCCTGTTGTCGCTGGGGGGCC	0.657												
CDHR2	54825	broad.mit.edu	37	5	176011888	176011888	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:176011888C>T	uc003mem.1	+	19	2672	c.2606C>T	c.(2605-2607)GCG>GTG	p.A869V	CDHR2_uc003men.1_Missense_Mutation_p.A869V	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	869	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TTCTCAGTGGCGGCCAACGGC	0.607												
CDHR2	54825	broad.mit.edu	37	5	176016106	176016106	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:176016106C>T	uc003mem.1	+	22	2997	c.2931C>T	c.(2929-2931)GAC>GAT	p.D977D	CDHR2_uc003men.1_Silent_p.D977D	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	977	Extracellular (Potential).|Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TCTCTAAGGACGGGGCCACCA	0.577												
B4GALT7	11285	broad.mit.edu	37	5	177031390	177031390	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:177031390C>T	uc003mhy.2	+	2	301	c.261C>T	c.(259-261)GAC>GAT	p.D87D	B4GALT7_uc003mhz.2_Translation_Start_Site	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase 7	87	Lumenal (Potential).				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			pancreas(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGAAGAAGACGCATCCTGGG	0.711												
FLT4	2324	broad.mit.edu	37	5	180057684	180057684	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:180057684G>A	uc003mma.3	-	3	350	c.271C>T	c.(271-273)CCC>TCC	p.P91S	FLT4_uc003mlz.3_Missense_Mutation_p.P91S|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.P91S|FLT4_uc011dgz.1_Missense_Mutation_p.P91S|FLT4_uc011dha.1_Missense_Mutation_p.P91S	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	91	Ig-like C2-type 1.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTGCAGTAGGGCCTGGCGTCT	0.632									Congenital_Hereditary_Lymphedema			
IRF4	3662	broad.mit.edu	37	6	394848	394848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:394848C>T	uc003msz.3	+	3	357	c.244C>T	c.(244-246)CGA>TGA	p.R82*	IRF4_uc010jne.1_Nonsense_Mutation_p.R82*|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Nonsense_Mutation_p.R82*|IRF4_uc003mtc.1_5'Flank	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	82	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AGGAAAGTTCCGAGAAGGCAT	0.463			T	IGH@	MM 							
MYLK4	340156	broad.mit.edu	37	6	2693062	2693062	+	Missense_Mutation	SNP	G	G	A	rs114356072	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:2693062G>A	uc003mty.3	-	3	488	c.191C>T	c.(190-192)ACG>ATG	p.T64M		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	64							ATP binding|protein serine/threonine kinase activity			breast(3)|ovary(1)	4	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CATCCTTTCCGTCAGGTCGGC	0.378												
RREB1	6239	broad.mit.edu	37	6	7230666	7230666	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:7230666C>T	uc003mxc.2	+	10	2724	c.2334C>T	c.(2332-2334)CGC>CGT	p.R778R	RREB1_uc003mxb.2_Silent_p.R778R|RREB1_uc010jnx.2_Silent_p.R778R	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	778					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACTGCGGCCGCGGCCTGGGCG	0.697												
GFOD1	54438	broad.mit.edu	37	6	13365828	13365828	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:13365828G>A	uc003nat.1	-	2	985	c.320C>T	c.(319-321)GCC>GTC	p.A107V	GFOD1_uc003nas.1_Missense_Mutation_p.A4V	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	107						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GTAGTGGGCGGCCGAGGTCAT	0.652												
MBOAT1	154141	broad.mit.edu	37	6	20124681	20124681	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:20124681T>C	uc003ncx.1	-	8	1070	c.865A>G	c.(865-867)ATG>GTG	p.M289V	MBOAT1_uc011dji.1_Missense_Mutation_p.M140V	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain	289					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			GAGGCTTGCATGACAACATAT	0.443												
CDKAL1	54901	broad.mit.edu	37	6	21201396	21201396	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:21201396A>G	uc003ndc.1	+	15	1613	c.1439A>G	c.(1438-1440)TAT>TGT	p.Y480C	CDKAL1_uc003ndd.1_Missense_Mutation_p.Y480C|CDKAL1_uc003nde.1_Missense_Mutation_p.Y389C|CDKAL1_uc003ndf.1_Intron|CDKAL1_uc003ndg.2_RNA	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	480	TRAM.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GTGGACATCTATGAATCAGGC	0.418												
KIAA0319	9856	broad.mit.edu	37	6	24547486	24547486	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:24547486G>A	uc011djo.1	-	21	3363	c.3126C>T	c.(3124-3126)AGC>AGT	p.S1042S	KIAA0319_uc011djp.1_Silent_p.S997S|KIAA0319_uc003neh.1_Silent_p.S1042S|KIAA0319_uc011djq.1_Silent_p.S1033S|KIAA0319_uc011djr.1_Silent_p.S981S|KIAA0319_uc010jpt.1_Silent_p.S453S	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	1042	Cytoplasmic (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						TCTTTTCTCGGCTGAAGATTG	0.473												
HIST1H2AE	3012	broad.mit.edu	37	6	26217419	26217419	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:26217419G>A	uc003nha.1	+	1	272	c.217G>A	c.(217-219)GAC>AAC	p.D73N	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	73					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				CGCGGCTCGCGACAATAAGAA	0.612												
HIST1H2AE	3012	broad.mit.edu	37	6	26217530	26217530	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:26217530C>T	uc003nha.1	+	1	383	c.328C>T	c.(328-330)CCC>TCC	p.P110S	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	110					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2		all_hematologic(11;0.196)				CGGTGTCCTGCCCAACATCCA	0.572												
PGBD1	84547	broad.mit.edu	37	6	28268977	28268977	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:28268977G>T	uc003nky.2	+	7	1716	c.1346G>T	c.(1345-1347)AGC>ATC	p.S449I	PGBD1_uc003nkz.2_Missense_Mutation_p.S449I	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	449					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						AAAAATGTCAGCTTGGAAGTC	0.353												
GABBR1	2550	broad.mit.edu	37	6	29577006	29577006	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:29577006C>T	uc003nmt.3	-	15	2195	c.1859G>A	c.(1858-1860)CGT>CAT	p.R620H	GABBR1_uc003nmp.3_Missense_Mutation_p.R503H|GABBR1_uc003nms.3_Missense_Mutation_p.R503H|GABBR1_uc003nmu.3_Missense_Mutation_p.R558H|GABBR1_uc011dlr.1_Missense_Mutation_p.R443H|GABBR1_uc011dls.1_Intron	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	620	Cytoplasmic (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)	AGAAACTTACCGGACATGTGA	0.458												
TRIM31	11074	broad.mit.edu	37	6	30080571	30080571	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:30080571C>T	uc003npg.1	-	2	122	c.12G>A	c.(10-12)GGG>GGA	p.G4G	TRIM31_uc003npi.3_RNA	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	tripartite motif protein 31	4						mitochondrion	ligase activity|zinc ion binding			lung(1)	1						TCACAAACTGCCCACTGGCCA	0.517												
TRIM39	56658	broad.mit.edu	37	6	30308351	30308351	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:30308351T>C	uc010jrz.2	+	8	1275	c.963T>C	c.(961-963)TTT>TTC	p.F321F	TRIM39_uc003npz.2_Silent_p.F291F|TRIM39_uc003nqb.2_Silent_p.F291F|TRIM39_uc003nqc.2_Silent_p.F291F|TRIM39_uc010jsa.1_Silent_p.F291F	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	321	B30.2/SPRY.				apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						TCAGCAATTTTCCCCGACAGT	0.418												
DHX16	8449	broad.mit.edu	37	6	30624769	30624769	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:30624769C>T	uc003nqz.2	-	13	2320	c.2108G>A	c.(2107-2109)CGC>CAC	p.R703H	DHX16_uc003nqy.2_Missense_Mutation_p.R222H|DHX16_uc011dmo.1_Missense_Mutation_p.R643H	NM_003587	NP_003578	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	703	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(2)|kidney(2)	4						CATGCCTGTGCGGGGGTTGTA	0.557												
MICB	4277	broad.mit.edu	37	6	31473409	31473409	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:31473409G>A	uc003ntn.3	+	2	202	c.86G>A	c.(85-87)CGT>CAT	p.R29H	MICB_uc011dnm.1_5'UTR|MICB_uc003nto.3_Missense_Mutation_p.R29H	NM_005931	NP_005922	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	29	Extracellular (Potential).				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding				0						CACAGTCTTCGTTACAACCTC	0.522												
BAT5	7920	broad.mit.edu	37	6	31661161	31661161	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:31661161A>C	uc003nvy.1	-	6	508	c.478T>G	c.(478-480)TTC>GTC	p.F160V	BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Missense_Mutation_p.F127V|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_Silent_p.T61T	NM_021160	NP_066983	O95870	ABHGA_HUMAN	HLA-B associated transcript 5	160						integral to membrane	hydrolase activity|protein binding				0						TCCCAGTGGAAGTCGACTGGC	0.567												
MSH5	4439	broad.mit.edu	37	6	31727272	31727272	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:31727272T>C	uc003nwv.1	+	17	1557	c.1478T>C	c.(1477-1479)CTG>CCG	p.L493P	MSH5_uc003nwt.1_Missense_Mutation_p.L510P|MSH5_uc003nwu.1_Missense_Mutation_p.L493P|MSH5_uc003nww.1_Missense_Mutation_p.L493P|MSH5_uc003nwx.1_Missense_Mutation_p.L510P|MSH5_uc011dof.1_Missense_Mutation_p.L192P|MSH5_uc003nwy.1_Missense_Mutation_p.L167P|MSH5_uc003nwz.3_RNA	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	493					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3						CTGGGGGACCTGCACTGCGAG	0.527								Direct_reversal_of_damage|MMR				
EHMT2	10919	broad.mit.edu	37	6	31854829	31854829	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:31854829C>T	uc003nxz.1	-	16	2071	c.2061G>A	c.(2059-2061)ACG>ACA	p.T687T	EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.T478T|EHMT2_uc011don.1_Silent_p.T710T|EHMT2_uc003nya.1_Silent_p.T653T	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	687	ANK 2.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CATGCAGGGGCGTGCGCTTGC	0.657												
NOTCH4	4855	broad.mit.edu	37	6	32189085	32189085	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:32189085G>A	uc003obb.2	-	4	608	c.469C>T	c.(469-471)CGG>TGG	p.R157W	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.R157W	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	157	Extracellular (Potential).|EGF-like 4.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						CAGAAGTCCCGAAGCTGGCAC	0.572												
B3GALT4	8705	broad.mit.edu	37	6	33246150	33246150	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:33246150G>T	uc003odr.2	+	1	1234	c.954G>T	c.(952-954)CCG>CCT	p.P318P		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	318	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						CCCACTACCCGCTAGACCGGT	0.617												
TAPBP	6892	broad.mit.edu	37	6	33272343	33272343	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:33272343A>C	uc003odx.1	-	5	1112	c.941T>G	c.(940-942)CTC>CGC	p.L314R	TAPBP_uc010jus.1_Missense_Mutation_p.L332R|TAPBP_uc003ody.2_3'UTR|TAPBP_uc003odz.2_Missense_Mutation_p.L314R|TAPBP_uc010jut.1_Missense_Mutation_p.L227R|TAPBP_uc011drc.1_Missense_Mutation_p.L314R	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	314	Ig-like C1-type.|Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						CACAAGGCAGAGCAATTCCGG	0.657												
ITPR3	3710	broad.mit.edu	37	6	33663508	33663508	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:33663508G>A	uc011drk.1	+	58	8186	c.7967G>A	c.(7966-7968)CGC>CAC	p.R2656H	C6orf125_uc003oez.1_RNA	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2656	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						CAGCGGAAACGCAGGCAACGC	0.602												
GRM4	2914	broad.mit.edu	37	6	34003851	34003851	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:34003851C>T	uc003oir.3	-	8	2206	c.2036G>A	c.(2035-2037)CGC>CAC	p.R679H	GRM4_uc011dsn.1_Missense_Mutation_p.R632H|GRM4_uc010jvh.2_Missense_Mutation_p.R679H|GRM4_uc010jvi.2_Missense_Mutation_p.R371H|GRM4_uc003oio.2_Missense_Mutation_p.R371H|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R539H|GRM4_uc003oiq.2_Missense_Mutation_p.R546H|GRM4_uc011dsm.1_Missense_Mutation_p.R510H	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	679	Cytoplasmic (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	CTCGAAGATGCGGTAGATGCG	0.627												
SCUBE3	222663	broad.mit.edu	37	6	35196408	35196408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:35196408C>T	uc003okf.1	+	3	232	c.226C>T	c.(226-228)CGA>TGA	p.R76*	SCUBE3_uc003okg.1_Nonsense_Mutation_p.R76*|SCUBE3_uc003okh.1_5'UTR	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	76	EGF-like 2; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						TGAGTGCGAGCGAGAGGATAA	0.537												
TULP1	7287	broad.mit.edu	37	6	35466128	35466128	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:35466128G>A	uc003okv.3	-	15	1617	c.1605C>T	c.(1603-1605)TTC>TTT	p.F535F	TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Silent_p.F482F	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	535					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						GCTTCCCGTCGAAACTGGAGA	0.687												
TULP1	7287	broad.mit.edu	37	6	35467757	35467757	+	Splice_Site	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:35467757C>T	uc003okv.3	-	14	1507	c.1495_splice	c.e14+1	p.P499_splice	TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Splice_Site_p.P446_splice	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1						dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						CAGGTACTCACGGTCATCAGC	0.592												
SLC26A8	116369	broad.mit.edu	37	6	35965630	35965630	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:35965630T>C	uc003olm.2	-	5	623	c.512A>G	c.(511-513)CAA>CGA	p.Q171R	SLC26A8_uc003oln.2_Missense_Mutation_p.Q171R|SLC26A8_uc003oll.2_Missense_Mutation_p.Q171R	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	171	Extracellular (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						CATGACCAGTTGACCGTTGTT	0.463												
MDGA1	266727	broad.mit.edu	37	6	37614111	37614111	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:37614111C>T	uc003onu.1	-	11	3266	c.2087G>A	c.(2086-2088)CGG>CAG	p.R696Q	MDGA1_uc003onv.1_5'UTR	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	696	Fibronectin type-III.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						CTCCACACGCCGGACCGGGAT	0.537												
DNAH8	1769	broad.mit.edu	37	6	38828322	38828322	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:38828322G>A	uc003ooe.1	+	41	5997	c.5397G>A	c.(5395-5397)GTG>GTA	p.V1799V		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						AAACTGTGGTGTCTATTACAG	0.318												
DNAH8	1769	broad.mit.edu	37	6	38862578	38862578	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:38862578C>T	uc003ooe.1	+	57	8634	c.8034C>T	c.(8032-8034)TGC>TGT	p.C2678C		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						CTGAGGAGTGCGCTTCAATCC	0.438												
PGC	5225	broad.mit.edu	37	6	41710153	41710153	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:41710153C>T	uc003ora.1	-	5	571	c.522G>A	c.(520-522)GCG>GCA	p.A174A		NM_002630	NP_002621	P20142	PEPC_HUMAN	progastricsin (pepsinogen C) precursor	174					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity				0	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CATCAAACTGCGCATAGACGA	0.597												
PEX6	5190	broad.mit.edu	37	6	42934036	42934036	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:42934036G>A	uc003otf.2	-	11	2337	c.2244C>T	c.(2242-2244)ACC>ACT	p.T748T	PEX6_uc010jya.2_Intron	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	748	ATP (Potential).				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GGGTCTTGCCGGTGCCAGGGG	0.647												
CAPN11	11131	broad.mit.edu	37	6	44148518	44148518	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:44148518C>T	uc003owt.1	+	17	1818	c.1780C>T	c.(1780-1782)CTG>TTG	p.L594L	CAPN11_uc011dvn.1_Silent_p.L248L	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	calpain 11	594	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTCCAGAGGCTGCTCAACAG	0.602												
TDRD6	221400	broad.mit.edu	37	6	46661330	46661330	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:46661330A>G	uc003oyj.2	+	1	5465	c.5465A>G	c.(5464-5466)CAT>CGT	p.H1822R	TDRD6_uc010jze.2_Missense_Mutation_p.H1816R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1822					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			TTACTACCACATGCTAATGAA	0.378												
GPR116	221395	broad.mit.edu	37	6	46826552	46826552	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:46826552A>G	uc003oyo.3	-	17	3377	c.3088T>C	c.(3088-3090)TGT>CGT	p.C1030R	GPR116_uc011dwj.1_Missense_Mutation_p.C585R|GPR116_uc011dwk.1_Missense_Mutation_p.C459R|GPR116_uc003oyp.3_Missense_Mutation_p.C888R|GPR116_uc003oyq.3_Missense_Mutation_p.C1030R|GPR116_uc010jzi.1_Missense_Mutation_p.C702R	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1030	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			ACAACTAGACAGGCTGCCAAG	0.502												
GCM1	8521	broad.mit.edu	37	6	52993439	52993439	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:52993439G>A	uc003pbp.2	-	6	1085	c.876C>T	c.(874-876)GGC>GGT	p.G292G		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	glial cells missing homolog a	292						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)					CTTGTAGATCGCCATGATCAG	0.473												
GFRAL	389400	broad.mit.edu	37	6	55266626	55266626	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:55266626C>T	uc003pcm.1	+	9	1246	c.1160C>T	c.(1159-1161)TCG>TTG	p.S387L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	387	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GATCCTTCATCGATCCAAATA	0.264												
BAI3	577	broad.mit.edu	37	6	69653743	69653743	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:69653743G>T	uc003pev.3	+	6	1500	c.1052G>T	c.(1051-1053)TGG>TTG	p.W351L	BAI3_uc010kak.2_Missense_Mutation_p.W351L	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	351	Extracellular (Potential).|TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGGGAGGAATGGTCACCATGG	0.403												
BAI3	577	broad.mit.edu	37	6	70034893	70034893	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:70034893C>T	uc003pev.3	+	21	3392	c.2944C>T	c.(2944-2946)CGC>TGC	p.R982C	BAI3_uc010kak.2_Missense_Mutation_p.R982C|BAI3_uc011dxx.1_Missense_Mutation_p.R188C|BAI3_uc003pex.1_Missense_Mutation_p.R112C	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	982	Helical; Name=4; (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TATAAGAAAACGCTTTTTGTG	0.403												
BAI3	577	broad.mit.edu	37	6	70098683	70098683	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:70098683C>T	uc003pev.3	+	32	4917	c.4469C>T	c.(4468-4470)ACA>ATA	p.T1490I	BAI3_uc010kak.2_Missense_Mutation_p.T1490I|BAI3_uc011dxx.1_Missense_Mutation_p.T696I	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1490	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				GTCTTAGACACAGAGGCAAAG	0.458												
FAM135A	57579	broad.mit.edu	37	6	71238145	71238145	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:71238145C>T	uc003pfj.2	+	14	3898	c.3765C>T	c.(3763-3765)CAC>CAT	p.H1255H	FAM135A_uc003pfi.2_Silent_p.H1059H|FAM135A_uc003pfh.2_Silent_p.H1042H|FAM135A_uc003pfl.2_Silent_p.H922H|FAM135A_uc003pfn.2_Silent_p.H461H|FAM135A_uc003pfo.1_Silent_p.H626H|FAM135A_uc010kan.1_Silent_p.H34H	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	1255										central_nervous_system(1)	1						TCTGTGTGCACGGTTTAGATG	0.373												
KIAA1009	22832	broad.mit.edu	37	6	84930884	84930884	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:84930884T>C	uc010kbp.2	-	3	160	c.63A>G	c.(61-63)TCA>TCG	p.S21S	KIAA1009_uc003pkj.3_5'UTR|KIAA1009_uc003pkk.2_Silent_p.S21S	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	21					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AAGAATCATCTGAAAGCTGAA	0.308												
C6orf162	57150	broad.mit.edu	37	6	88046820	88046820	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:88046820G>T	uc003plp.1	+	3	160	c.71G>T	c.(70-72)GGG>GTG	p.G24V	C6orf164_uc003plr.2_RNA|C6orf162_uc003plq.1_Missense_Mutation_p.G24V	NM_001042493	NP_001035958	Q96KF7	CF162_HUMAN	hypothetical protein LOC57150	24						integral to membrane					0		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		CAAAGCCCAGGGCTCAGAGGG	0.403												
PNRC1	10957	broad.mit.edu	37	6	89793717	89793717	+	Silent	SNP	G	G	A	rs147195455		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:89793717G>A	uc003pmv.2	+	2	971	c.786G>A	c.(784-786)TCG>TCA	p.S262S	PNRC1_uc003pmu.2_Silent_p.S242S|PNRC1_uc003pmx.2_Silent_p.S77S	NM_006813	NP_006804	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		TTAAAAATTCGCATTTGAAGA	0.358										Multiple Myeloma(7;0.094)		
MDN1	23195	broad.mit.edu	37	6	90359786	90359786	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:90359786G>A	uc003pnn.1	-	97	16279	c.16163C>T	c.(16162-16164)GCT>GTT	p.A5388V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5388	VWFA.				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTCATCGATAGCCAAACAAAT	0.408												
POU3F2	5454	broad.mit.edu	37	6	99284015	99284015	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:99284015C>T	uc003ppe.2	+	1	1436	c.1266C>T	c.(1264-1266)GCC>GCT	p.A422A		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	422					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		TGCCGGGCGCCGAGGATGTGT	0.622												
GRIK2	2898	broad.mit.edu	37	6	102074490	102074490	+	Silent	SNP	G	G	A	rs147153195		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:102074490G>A	uc003pqp.3	+	3	768	c.519G>A	c.(517-519)ACG>ACA	p.T173T	GRIK2_uc003pqn.2_Silent_p.T173T|GRIK2_uc003pqo.3_Silent_p.T173T|GRIK2_uc010kcw.2_Silent_p.T173T	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	173	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AAACCGTCACGGTTGTGTATG	0.398												
HACE1	57531	broad.mit.edu	37	6	105239495	105239495	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:105239495G>T	uc003pqu.1	-	11	1235	c.958C>A	c.(958-960)CTT>ATT	p.L320I	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.L320I	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	320					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ATCCTTAAAAGGCTCTTCATT	0.318												
PRDM1	639	broad.mit.edu	37	6	106536269	106536269	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:106536269C>T	uc003prd.2	+	2	470	c.236C>T	c.(235-237)GCG>GTG	p.A79V		NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	79					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q42fs*23(1)|p.?(1)		haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TCGGTTCAGGCGGAGGCATCC	0.498			D|N|Mis|F|S		DLBCL							
PRDM1	639	broad.mit.edu	37	6	106553564	106553564	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:106553564G>A	uc003prd.2	+	5	1763	c.1529G>A	c.(1528-1530)TGT>TAT	p.C510Y	PRDM1_uc003pre.2_Missense_Mutation_p.C376Y	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	510					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GACAAGGCCTGTAGCCCCACA	0.672			D|N|Mis|F|S		DLBCL							
ATG5	9474	broad.mit.edu	37	6	106634461	106634461	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:106634461G>A	uc003prf.2	-	8	1135	c.782C>T	c.(781-783)CCG>CTG	p.P261L	ATG5_uc010kdb.2_3'UTR|ATG5_uc003prg.2_Missense_Mutation_p.P183L|ATG5_uc010kdc.2_3'UTR	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	APG5 autophagy 5-like	261					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			large_intestine(1)	1	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		AAAATTATCCGGGTAGCTCAG	0.398												
REV3L	5980	broad.mit.edu	37	6	111695847	111695847	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:111695847A>G	uc003puy.3	-	13	4034	c.3711T>C	c.(3709-3711)GCT>GCC	p.A1237A	REV3L_uc003pux.3_Silent_p.A1159A|REV3L_uc003puz.3_Silent_p.A1159A	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1237					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)		ACTTAACCTCAGCACCAGACT	0.353								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
FRK	2444	broad.mit.edu	37	6	116277749	116277749	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:116277749A>G	uc003pwi.1	-	5	1271	c.824T>C	c.(823-825)CTG>CCG	p.L275P		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	275	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TGCCTCCCTCAGGAAGTCATT	0.398												
ROS1	6098	broad.mit.edu	37	6	117631391	117631391	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:117631391C>T	uc003pxp.1	-	40	6486	c.6287G>A	c.(6286-6288)CGG>CAG	p.R2096Q	ROS1_uc011ebi.1_RNA	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	2096	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTCACTATCCGTGGACTGGT	0.393			T	GOPC|ROS1	glioblastoma|NSCLC							
PTPRK	5796	broad.mit.edu	37	6	128311944	128311944	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:128311944T>C	uc003qbk.2	-	21	3430	c.3063A>G	c.(3061-3063)GAA>GAG	p.E1021E	PTPRK_uc003qbj.2_Silent_p.E1022E|PTPRK_uc010kfc.2_Silent_p.E1028E|PTPRK_uc011ebu.1_Silent_p.E1044E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1021	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TAACTACATATTCAGCAAGTG	0.328												
C6orf191	253582	broad.mit.edu	37	6	130182311	130182311	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:130182311G>A	uc003qbs.2	-	1	106	c.23C>T	c.(22-24)GCT>GTT	p.A8V		NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN	hypothetical protein LOC253582	8						integral to membrane				large_intestine(1)	1				GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131)		CTTGCTTGGAGCAACTCTGAC	0.443												
L3MBTL3	84456	broad.mit.edu	37	6	130370502	130370502	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:130370502G>A	uc003qbt.2	+	4	348	c.178G>A	c.(178-180)GCT>ACT	p.A60T	L3MBTL3_uc003qbu.2_Missense_Mutation_p.A60T	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	60					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AAAAGCAACTGCTACCACCAC	0.378												
L3MBTL3	84456	broad.mit.edu	37	6	130454682	130454682	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:130454682C>A	uc003qbt.2	+	21	2222	c.2052C>A	c.(2050-2052)CCC>CCA	p.P684P	L3MBTL3_uc003qbu.2_Silent_p.P659P	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	684					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CATGTCTGCCCTTGCGCTGGG	0.507												
ENPP3	5169	broad.mit.edu	37	6	132045205	132045205	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:132045205A>G	uc003qcu.3	+	20	2119	c.1772A>G	c.(1771-1773)CAG>CGG	p.Q591R	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.Q591R	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	591	Extracellular (Potential).				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CAAGTGAATCAGATGCTAAAT	0.378												
TNFAIP3	7128	broad.mit.edu	37	6	138195987	138195987	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:138195987G>A	uc003qhr.2	+	3	367	c.301G>A	c.(301-303)GGC>AGC	p.G101S	TNFAIP3_uc003qhs.2_Missense_Mutation_p.G101S	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	101	TRAF-binding.|OTU.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)|p.G101fs*38(1)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTCAGGTGACGGCAATTGCCT	0.488			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma							
GRM1	2911	broad.mit.edu	37	6	146720722	146720722	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:146720722C>A	uc010khw.1	+	8	3017	c.2547C>A	c.(2545-2547)GCC>GCA	p.A849A	GRM1_uc010khv.1_Silent_p.A849A|GRM1_uc003qll.2_Silent_p.A849A|GRM1_uc011edz.1_Silent_p.A849A|GRM1_uc011eea.1_Silent_p.A849A	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	849	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCGCAGTGCCTTCACCACCT	0.532												
GRM1	2911	broad.mit.edu	37	6	146755477	146755477	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:146755477G>A	uc010khw.1	+	9	3600	c.3130G>A	c.(3130-3132)GCG>ACG	p.A1044T	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1044	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTTCAGTACCGCGATCCCGGA	0.667												
STXBP5	134957	broad.mit.edu	37	6	147588297	147588297	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:147588297T>C	uc003qlz.2	+	7	869	c.708T>C	c.(706-708)TAT>TAC	p.Y236Y	STXBP5_uc010khz.1_Silent_p.Y236Y|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_5'UTR	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	236					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GATACACATATGATGAGGTAA	0.323												
PCMT1	5110	broad.mit.edu	37	6	150123459	150123459	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:150123459G>A	uc003qne.2	+	7	835	c.802G>A	c.(802-804)GGG>AGG	p.G268R	PCMT1_uc003qna.2_Missense_Mutation_p.G268R|PCMT1_uc003qnb.2_Missense_Mutation_p.G268R|PCMT1_uc011eeg.1_Missense_Mutation_p.G233R|PCMT1_uc003qnc.2_Missense_Mutation_p.G147R|PCMT1_uc003qnd.2_Missense_Mutation_p.G233R|PCMT1_uc003qnf.2_Missense_Mutation_p.G233R	NM_005389	NP_005380			protein-L-isoaspartate (D-aspartate)											ovary(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		GCCTCTGATGGGGGTGATATA	0.443												
ZBTB2	57621	broad.mit.edu	37	6	151687158	151687158	+	Missense_Mutation	SNP	T	T	C	rs149628106		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:151687158T>C	uc003qoh.2	-	3	1178	c.1043A>G	c.(1042-1044)AAC>AGC	p.N348S		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	348					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)		CTGCTCCAGGTTGTCAATGTC	0.537												
ZBTB2	57621	broad.mit.edu	37	6	151687648	151687648	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:151687648C>T	uc003qoh.2	-	3	688	c.553G>A	c.(553-555)GCC>ACC	p.A185T		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	185					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)		TTCACCTGGGCCAGATTTGAA	0.587												
ARID1B	57492	broad.mit.edu	37	6	157488172	157488172	+	Splice_Site	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:157488172A>G	uc003qqn.2	+	9	2819	c.2667_splice	c.e9-2	p.R889_splice	ARID1B_uc003qqo.2_Splice_Site_p.R902_splice|ARID1B_uc003qqp.2_Splice_Site_p.R889_splice|ARID1B_uc010kjl.2_Splice_Site_p.R87_splice	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)						chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTCTTCCTGTAGGCAAGGCAG	0.512												
IGF2R	3482	broad.mit.edu	37	6	160494972	160494972	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:160494972G>A	uc003qta.2	+	35	5279	c.5131G>A	c.(5131-5133)GCT>ACT	p.A1711T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1711	Lumenal (Potential).|12.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGCCGGAGCCGCTGTGTGCAA	0.463												
T	6862	broad.mit.edu	37	6	166579295	166579295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:166579295G>A	uc003quu.1	-	4	998	c.505C>T	c.(505-507)CGA>TGA	p.R169*	T_uc003qut.1_Nonsense_Mutation_p.R169*|T_uc003quv.1_Nonsense_Mutation_p.R169*	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	169	T-box.				anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		ATGTGGATTCGAGGCTCATAC	0.498									Chordoma_Familial_Clustering_of			
TTLL2	83887	broad.mit.edu	37	6	167753909	167753909	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:167753909T>C	uc003qvs.1	+	3	609	c.521T>C	c.(520-522)CTG>CCG	p.L174P	TTLL2_uc011egr.1_RNA	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	174	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGCACTTCCCTGTACCAGTTC	0.522												
MLLT4	4301	broad.mit.edu	37	6	168352326	168352326	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:168352326C>T	uc003qwd.2	+	29	4410	c.4268C>T	c.(4267-4269)GCC>GTC	p.A1423V	MLLT4_uc003qwb.1_Missense_Mutation_p.A1408V|MLLT4_uc003qwc.1_Missense_Mutation_p.A1424V|MLLT4_uc003qwg.1_Missense_Mutation_p.A733V	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1424	Potential.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAGGAGAAGGCCCGCCTGGAG	0.602			T	MLL	AL							
THBS2	7058	broad.mit.edu	37	6	169637357	169637357	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:169637357C>T	uc003qwt.2	-	10	1633	c.1385G>A	c.(1384-1386)CGT>CAT	p.R462H		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	462	TSP type-1 2.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTTGCAGAGACGGATGCGTGT	0.602												
C6orf70	55780	broad.mit.edu	37	6	170162628	170162628	+	Splice_Site	SNP	G	G	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:170162628G>C	uc003qxg.1	+	9	993	c.960_splice	c.e9+1	p.E320_splice	C6orf70_uc011ehb.1_Splice_Site_p.E194_splice|C6orf70_uc003qxh.1_Splice_Site_p.E320_splice|C6orf70_uc010kky.1_Splice_Site_p.E194_splice	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780							integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		GACTGCTGAGGTAAGCTTGTT	0.348												
HEATR2	54919	broad.mit.edu	37	7	813802	813802	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:813802G>A	uc010krz.1	+	10	2069	c.2049G>A	c.(2047-2049)GCG>GCA	p.A683A	HEATR2_uc003siz.2_Silent_p.A551A|HEATR2_uc003sjb.2_Silent_p.A63A|HEATR2_uc003sjc.2_Silent_p.A108A	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	683							protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GCCTCTGGGCGCTCACCAGCA	0.706												
CYP2W1	54905	broad.mit.edu	37	7	1026290	1026290	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:1026290C>A	uc003sjq.1	+	5	689	c.676C>A	c.(676-678)CTG>ATG	p.L226M	CYP2W1_uc003sjr.1_Missense_Mutation_p.L226M	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W,	226					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCTCGGGGCCCTGCTCCAGCT	0.697												
PSMG3	84262	broad.mit.edu	37	7	1608845	1608845	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:1608845G>A	uc003skx.2	-	1	785	c.131C>T	c.(130-132)ACC>ATC	p.T44I	PSMG3_uc011jvx.1_Missense_Mutation_p.T44I|KIAA1908_uc003sla.2_5'Flank|KIAA1908_uc003sky.1_5'Flank|KIAA1908_uc003skz.1_5'Flank	NM_032302	NP_115678	Q9BT73	PSMG3_HUMAN	proteasome assembling chaperone 3	44											0		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		GGAGACCAGGGTGCCCATCTT	0.597												
EIF3B	8662	broad.mit.edu	37	7	2405962	2405962	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:2405962A>T	uc003slx.2	+	7	1251	c.1168A>T	c.(1168-1170)ACC>TCC	p.T390S	EIF3B_uc003sly.2_Missense_Mutation_p.T390S|EIF3B_uc003sma.2_Missense_Mutation_p.T118S	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	390	Sufficient for interaction with EIF3E.|WD 2.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTACCTGGTGACCTTTAGCCC	0.547												
CARD11	84433	broad.mit.edu	37	7	2976790	2976790	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:2976790G>A	uc003smv.2	-	9	1626	c.1222C>T	c.(1222-1224)CGC>TGC	p.R408C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	408	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCAGCTCGCGGATCTGCTTC	0.587			Mis		DLBCL							
RNF216	54476	broad.mit.edu	37	7	5751450	5751450	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:5751450G>A	uc003soy.1	-	13	2022	c.1832C>T	c.(1831-1833)CCG>CTG	p.P611L	RNF216_uc010ksz.1_Missense_Mutation_p.P233L|RNF216_uc010kta.1_Missense_Mutation_p.P233L|RNF216_uc011jwj.1_Missense_Mutation_p.P233L|RNF216_uc003sox.1_Missense_Mutation_p.P668L	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	611	IBR-type.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CAACAGAGCCGGAAAGCTACA	0.453												
USP42	84132	broad.mit.edu	37	7	6189484	6189484	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:6189484G>A	uc011jwo.1	+	13	1780	c.1657G>A	c.(1657-1659)GTT>ATT	p.V553I	USP42_uc010kth.1_Missense_Mutation_p.V486I|USP42_uc011jwp.1_Missense_Mutation_p.V553I|USP42_uc011jwq.1_Missense_Mutation_p.V360I|USP42_uc011jwr.1_Missense_Mutation_p.V398I	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	553					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TACCAAGCCCGTTCCCTCTTC	0.433												
DAGLB	221955	broad.mit.edu	37	7	6449982	6449982	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:6449982G>A	uc003sqa.2	-	14	1769	c.1599C>T	c.(1597-1599)TAC>TAT	p.Y533Y	DAGLB_uc003spy.2_Silent_p.Y79Y|DAGLB_uc003spz.2_Silent_p.Y230Y|DAGLB_uc011jwt.1_Silent_p.Y347Y|DAGLB_uc011jwu.1_Silent_p.Y404Y|DAGLB_uc003sqb.2_Silent_p.Y252Y|DAGLB_uc003sqc.2_Silent_p.Y252Y|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.Y492Y	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	533	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CAAACAGTTCGTACCACAAAC	0.567												
MIOS	54468	broad.mit.edu	37	7	7612652	7612652	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:7612652A>G	uc003srf.2	+	4	854	c.546A>G	c.(544-546)GGA>GGG	p.G182G	MIOS_uc010ktp.1_Silent_p.G182G	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	182	WD 3.										0						ATGAGTTAGGACAGAATGATG	0.383												
TWIST1	7291	broad.mit.edu	37	7	19156645	19156645	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:19156645C>T	uc003sum.2	-	1	651	c.300G>A	c.(298-300)CCG>CCA	p.P100P		NM_000474	NP_000465	Q15672	TWST1_HUMAN	twist	100					aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0						CGTAAGACTGCGGACTCccgc	0.522									Saethre-Chotzen_syndrome			
SP4	6671	broad.mit.edu	37	7	21550662	21550662	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:21550662G>A	uc003sva.2	+	6	2311	c.2130G>A	c.(2128-2130)CCG>CCA	p.P710P	SP4_uc003svb.2_Silent_p.P397P	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	710	C2H2-type 3.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5						TTGAATGCCCGGAATGTTCTA	0.368												
GPNMB	10457	broad.mit.edu	37	7	23309629	23309629	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:23309629G>A	uc003swc.2	+	9	1461	c.1300G>A	c.(1300-1302)GAG>AAG	p.E434K	GPNMB_uc003swb.2_Missense_Mutation_p.E422K|GPNMB_uc011jyy.1_Missense_Mutation_p.E376K|GPNMB_uc011jyz.1_Missense_Mutation_p.E323K	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	434	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			CCCCACCTGCGAGATCACCCA	0.577												
TRA2A	29896	broad.mit.edu	37	7	23545380	23545380	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:23545380G>A	uc003swi.2	-	7	1037	c.823C>T	c.(823-825)CGT>TGT	p.R275C	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R174C|TRA2A_uc011jzd.1_Missense_Mutation_p.R174C	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	275	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						CTGTAGGAACGAGATCTTGAT	0.338												
NPY	4852	broad.mit.edu	37	7	24324899	24324899	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:24324899C>A	uc003sww.1	+	2	126	c.40C>A	c.(40-42)CTC>ATC	p.L14I		NM_000905	NP_000896	P01303	NPY_HUMAN	neuropeptide Y precursor	14					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity				0						CGGACTGACCCTCGCCCTGTC	0.677												
C7orf31	136895	broad.mit.edu	37	7	25194712	25194712	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:25194712C>T	uc003sxn.1	-	6	1074	c.513G>A	c.(511-513)ACG>ACA	p.T171T	C7orf31_uc003sxm.1_Silent_p.T13T	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	171											0						CTTTAATGCCCGTGTAGAGGT	0.527												
SFRP4	6424	broad.mit.edu	37	7	37947147	37947147	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:37947147T>C	uc003tfo.3	-	6	1361	c.975A>G	c.(973-975)CCA>CCG	p.P325P		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	325					brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						TGGGACTGGCTGGTTTGGGAG	0.502												
EPDR1	54749	broad.mit.edu	37	7	37960370	37960370	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:37960370C>T	uc003tfp.2	+	1	208	c.189C>T	c.(187-189)CGC>CGT	p.R63R	EPDR1_uc003tfq.2_Silent_p.R63R|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	Error:Variant_position_missing_in_Q9UM22_after_alignment					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						CCGGGACTCGCGCGTCCGGAT	0.677												
CDK13	8621	broad.mit.edu	37	7	40037187	40037187	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:40037187C>T	uc003thh.3	+	3	2248	c.1966C>T	c.(1966-1968)CCA>TCA	p.P656S	CDK13_uc003thi.3_Missense_Mutation_p.P656S|CDK13_uc011kbf.1_Missense_Mutation_p.P42S	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	656					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						CCCTGAGCTACCAGGAGGAGA	0.408												
INHBA	3624	broad.mit.edu	37	7	41730044	41730044	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:41730044G>T	uc003thq.2	-	2	720	c.485C>A	c.(484-486)CCC>CAC	p.P162H	INHBA_uc003thr.2_Missense_Mutation_p.P162H	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	162					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						GTTGGCCTTGGGGACTTTTAG	0.582										TSP Lung(11;0.080)		
INHBA	3624	broad.mit.edu	37	7	41739728	41739728	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:41739728G>A	uc003thq.2	-	1	480	c.245C>T	c.(244-246)GCG>GTG	p.A82V	LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.A82V|LOC285954_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	82					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						GTTCAGAAGCGCCGCCTTGGG	0.517										TSP Lung(11;0.080)		
GLI3	2737	broad.mit.edu	37	7	42005606	42005606	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:42005606G>A	uc011kbh.1	-	15	3156	c.3065C>T	c.(3064-3066)CCG>CTG	p.P1022L	GLI3_uc011kbg.1_Missense_Mutation_p.P963L	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1022					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCTGAAGCGCGGCACACGAGG	0.736									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
GLI3	2737	broad.mit.edu	37	7	42063103	42063103	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:42063103G>A	uc011kbh.1	-	10	1552	c.1461C>T	c.(1459-1461)TGC>TGT	p.C487C	GLI3_uc011kbg.1_Silent_p.C428C	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	487	C2H2-type 1.				negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						ACTCCCTCGCGCAGCCTTCCC	0.532									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
DBNL	28988	broad.mit.edu	37	7	44099737	44099737	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:44099737T>C	uc003tjp.3	+	12	1236	c.1138T>C	c.(1138-1140)TAC>CAC	p.Y380H	DBNL_uc003tjo.3_Missense_Mutation_p.Y381H|DBNL_uc003tjr.3_Missense_Mutation_p.Y253H|DBNL_uc003tjq.3_Missense_Mutation_p.Y389H|DBNL_uc011kbm.1_Missense_Mutation_p.Y356H|DBNL_uc011kbn.1_Missense_Mutation_p.Y277H|DBNL_uc011kbo.1_Missense_Mutation_p.Y281H|DBNL_uc011kbp.1_Missense_Mutation_p.Y332H|DBNL_uc011kbq.1_Missense_Mutation_p.Y305H|DBNL_uc011kbr.1_Missense_Mutation_p.Y329H|DBNL_uc011kbs.1_Missense_Mutation_p.Y285H	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	380	SH3.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1						CCGTGCCCTGTACGACTACCA	0.622												
AEBP1	165	broad.mit.edu	37	7	44152379	44152379	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:44152379T>C	uc003tkb.2	+	18	2745	c.2440T>C	c.(2440-2442)TGG>CGG	p.W814R	AEBP1_uc003tkc.3_Missense_Mutation_p.W389R|AEBP1_uc003tkd.2_Missense_Mutation_p.W64R	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	814	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CATCTTCCGGTGGCTTGCCAT	0.677												
TBRG4	9238	broad.mit.edu	37	7	45141593	45141593	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:45141593G>A	uc003tmv.2	-	8	1524	c.1398C>T	c.(1396-1398)CCC>CCT	p.P466P	TBRG4_uc003tmu.2_Silent_p.P291P|TBRG4_uc003tmw.2_Silent_p.P356P|TBRG4_uc003tmx.2_Silent_p.P356P|TBRG4_uc011kcd.1_Silent_p.P477P	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	466					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						CCGAGTACTCGGGGTACTCCA	0.612												
TNS3	64759	broad.mit.edu	37	7	47385878	47385878	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:47385878C>T	uc003tnv.2	-	18	2725	c.2358G>A	c.(2356-2358)GGG>GGA	p.G786G	TNS3_uc003tnw.2_Silent_p.G786G	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	786						focal adhesion	protein binding			ovary(4)	4						AGGGCAGCTGCCCCCCAGCAT	0.602												
PKD1L1	168507	broad.mit.edu	37	7	47920397	47920397	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:47920397G>A	uc003tny.1	-	21	3449	c.3449C>T	c.(3448-3450)ACA>ATA	p.T1150I		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1150	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						TGTCTGTTCTGTAATACCTGC	0.468												
UPP1	7378	broad.mit.edu	37	7	48142893	48142893	+	Splice_Site	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:48142893G>A	uc003toj.2	+	7	851	c.322_splice	c.e7-1	p.H108_splice	UPP1_uc003tok.2_Splice_Site_p.H108_splice|UPP1_uc003tol.2_Splice_Site_p.H108_splice|UPP1_uc011kcg.1_Splice_Site_p.H108_splice|UPP1_uc011kch.1_Intron|UPP1_uc003ton.2_Intron|UPP1_uc003too.2_Intron	NM_181597	NP_853628	Q16831	UPP1_HUMAN	uridine phosphorylase 1						nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity				0						CCTGGTTCCAGCATGGTATGG	0.453												
ABCA13	154664	broad.mit.edu	37	7	48314041	48314041	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:48314041T>C	uc003toq.2	+	17	4803	c.4778T>C	c.(4777-4779)GTA>GCA	p.V1593A	ABCA13_uc010kyr.2_Missense_Mutation_p.V1096A	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1593					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						GTAAACAGTGTAGGCAATTCC	0.323												
ABCA13	154664	broad.mit.edu	37	7	48563962	48563962	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:48563962A>G	uc003toq.2	+	54	14195	c.14170A>G	c.(14170-14172)AGT>GGT	p.S4724G	ABCA13_uc010kys.1_Missense_Mutation_p.S1799G|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.S454G	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4724	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						ATACAACCTTAGTAAACATTA	0.353												
FIGNL1	63979	broad.mit.edu	37	7	50513124	50513124	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:50513124C>T	uc003tpc.2	-	4	2239	c.1862G>A	c.(1861-1863)CGC>CAC	p.R621H	FIGNL1_uc003tpb.2_Missense_Mutation_p.R510H|FIGNL1_uc003tpd.2_Missense_Mutation_p.R621H|FIGNL1_uc003tpe.2_Missense_Mutation_p.R621H|FIGNL1_uc010kyy.2_Missense_Mutation_p.R621H	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	621					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGTAAACTGCGAATAGGACC	0.433												
SBDS	51119	broad.mit.edu	37	7	66458338	66458338	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:66458338T>C	uc003tvm.1	-	3	509	c.325A>G	c.(325-327)AGG>GGG	p.R109G		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	109					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			ovary(1)	1						GCAATGTCCCTAAACATCTGC	0.378			Gene Conversion			AML|MDS			Shwachman-Diamond_syndrome			
AUTS2	26053	broad.mit.edu	37	7	70255416	70255416	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:70255416C>T	uc003tvw.3	+	19	3957	c.3214C>T	c.(3214-3216)CGG>TGG	p.R1072W	AUTS2_uc003tvx.3_Missense_Mutation_p.R1048W|AUTS2_uc011keg.1_Missense_Mutation_p.R524W	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1072										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)		GGACCCCATCCGGGACCCCTT	0.637												
AUTS2	26053	broad.mit.edu	37	7	70255803	70255803	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:70255803G>A	uc003tvw.3	+	19	4344	c.3601G>A	c.(3601-3603)GCG>ACG	p.A1201T	AUTS2_uc003tvx.3_Missense_Mutation_p.A1177T|AUTS2_uc011keg.1_Missense_Mutation_p.A653T	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1201										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)		CAGCCCCACCGCGGGCAACCA	0.706												
SRCRB4D	136853	broad.mit.edu	37	7	76033720	76033720	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:76033720G>T	uc003ufb.2	-	2	385	c.37C>A	c.(37-39)CTG>ATG	p.L13M	ZP3_uc003ufc.3_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	13						extracellular region|membrane	scavenger receptor activity			pancreas(1)	1						TTCTCATCCAGCTGGGGACCA	0.577												
CACNA2D1	781	broad.mit.edu	37	7	81637062	81637062	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:81637062A>G	uc003uhr.1	-	16	1629	c.1373T>C	c.(1372-1374)CTT>CCT	p.L458P	uc003uhs.1_5'Flank	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	458	Extracellular (Potential).|Cache.					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AGTAATGACAAGTCCCAGTTC	0.308												
ANKIB1	54467	broad.mit.edu	37	7	92021605	92021605	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:92021605A>G	uc003ulw.2	+	17	2658	c.2282A>G	c.(2281-2283)GAG>GGG	p.E761G	ANKIB1_uc010lew.1_Intron	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	761							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATCACCAGAGGTAATTGTT	0.333												
GNGT1	2792	broad.mit.edu	37	7	93540134	93540134	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:93540134C>T	uc003unc.1	+	3	277	c.129C>T	c.(127-129)TAC>TAT	p.Y43Y	GNGT1_uc003umx.1_RNA	NM_021955	NP_068774	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein),	43					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity				0	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TAAGAGATTACGTTGAAGAAC	0.418												
CASD1	64921	broad.mit.edu	37	7	94168352	94168352	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:94168352T>C	uc003uni.3	+	10	1567	c.1340T>C	c.(1339-1341)ATT>ACT	p.I447T	CASD1_uc003unj.3_Missense_Mutation_p.I447T	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	447	Helical; (Potential).					integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTTATCACATTTCTGGAGCA	0.328												
CASD1	64921	broad.mit.edu	37	7	94168365	94168365	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:94168365T>C	uc003uni.3	+	10	1580	c.1353T>C	c.(1351-1353)AGT>AGC	p.S451S	CASD1_uc003unj.3_Silent_p.S451S	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1 precursor	451	Helical; (Potential).					integral to membrane				ovary(2)	2	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTGGAGCAAGTACAGTAAGTA	0.328												
PON3	5446	broad.mit.edu	37	7	95019491	95019491	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:95019491G>T	uc003unt.2	-	3	201	c.176C>A	c.(175-177)CCT>CAT	p.P59H	PON1_uc011kih.1_Intron|PON3_uc011kii.1_Missense_Mutation_p.P59H	NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	59				LP -> FL (in Ref. 1; AAK07629).	aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity			ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			CAGCCCACTAGGAAGTATATC	0.398												
ZKSCAN5	23660	broad.mit.edu	37	7	99129068	99129068	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:99129068T>C	uc003uqv.2	+	7	1840	c.1716T>C	c.(1714-1716)ACT>ACC	p.T572T	ZKSCAN5_uc010lfx.2_Silent_p.T572T|ZKSCAN5_uc003uqw.2_Silent_p.T572T|ZKSCAN5_uc003uqx.2_Silent_p.T499T|ZKSCAN5_uc003uqy.2_Silent_p.T308T	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	572					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GAATACACACTGGGGAGAAAC	0.463												
ZSCAN21	7589	broad.mit.edu	37	7	99655395	99655395	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:99655395G>A	uc003uso.2	+	3	618	c.474G>A	c.(472-474)CCG>CCA	p.P158P	ZSCAN21_uc003usn.1_Silent_p.P157P	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	zinc finger protein 38	158					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGGAATCCCCGAGCAGCATGC	0.537												
TAF6	6878	broad.mit.edu	37	7	99709732	99709732	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:99709732G>A	uc003uti.2	-	7	800	c.719C>T	c.(718-720)GCG>GTG	p.A240V	TAF6_uc003utg.2_Missense_Mutation_p.A162V|TAF6_uc003uth.2_Missense_Mutation_p.A297V|TAF6_uc003utk.2_Missense_Mutation_p.A240V|TAF6_uc011kji.1_Missense_Mutation_p.A277V|TAF6_uc003utj.2_Missense_Mutation_p.A230V|TAF6_uc003utl.2_Missense_Mutation_p.A240V|TAF6_uc003utm.2_Missense_Mutation_p.A240V|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	240					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCCTCACCGCCCTCTTGGC	0.657												
C7orf43	55262	broad.mit.edu	37	7	99754145	99754145	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:99754145C>T	uc003utr.2	-	8	1284	c.1104G>A	c.(1102-1104)CCG>CCA	p.P368P	C7orf43_uc010lgo.2_Translation_Start_Site|C7orf43_uc010lgp.2_Translation_Start_Site|C7orf43_uc011kjj.1_Silent_p.P136P|C7orf43_uc003uts.2_Silent_p.P99P	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	368											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCACAAAACACGGGCGGTCCA	0.562												
VGF	7425	broad.mit.edu	37	7	100806796	100806796	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:100806796G>C	uc003uxx.3	-	2	1547	c.1329C>G	c.(1327-1329)GAC>GAG	p.D443E		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	443	Asp/Glu-rich (acidic).				response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					tctcctcgtcgtcctcctcct	0.483												
ZNHIT1	10467	broad.mit.edu	37	7	100866015	100866015	+	Silent	SNP	C	C	T	rs142012618	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:100866015C>T	uc003uye.2	+	2	645	c.153C>T	c.(151-153)CTC>CTT	p.L51L	ZNHIT1_uc003uyf.2_RNA	NM_006349	NP_006340	O43257	ZNHI1_HUMAN	zinc finger, HIT domain containing 1	51							metal ion binding|protein binding			large_intestine(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCCTCAGCTCGGCAAGAGAC	0.657												
CUX1	1523	broad.mit.edu	37	7	101821799	101821799	+	Silent	SNP	C	C	T	rs139114802		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:101821799C>T	uc003uyx.3	+	11	917	c.879C>T	c.(877-879)GCC>GCT	p.A293A	CUX1_uc003uys.3_Silent_p.A304A|CUX1_uc003uyt.2_Silent_p.A304A|CUX1_uc011kkn.1_Silent_p.A265A|CUX1_uc003uyw.2_Silent_p.A258A|CUX1_uc003uyv.2_Silent_p.A288A|CUX1_uc003uyu.2_Silent_p.A302A	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	293	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TTGAGTTGGCCGCCAAGGAGC	0.617												
MLL5	55904	broad.mit.edu	37	7	104747115	104747115	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:104747115C>T	uc003vcm.2	+	20	3277	c.2743C>T	c.(2743-2745)CGG>TGG	p.R915W	MLL5_uc010ljc.2_Missense_Mutation_p.R915W|MLL5_uc010lje.1_Intron|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.2_5'Flank|MLL5_uc010ljh.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	915					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						CACGCCTCCACGGATAAAATC	0.443												
LAMB4	22798	broad.mit.edu	37	7	107671340	107671340	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:107671340G>A	uc010ljo.1	-	32	4987	c.4903C>T	c.(4903-4905)CAG>TAG	p.Q1635*	LAMB4_uc003vey.2_Nonsense_Mutation_p.Q1635*|LAMB4_uc010ljp.1_Nonsense_Mutation_p.Q604*	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1635	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						AACTTGGTCTGCAGCAGGGAA	0.488												
MET	4233	broad.mit.edu	37	7	116397718	116397718	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:116397718G>A	uc003vij.2	+	8	2179	c.1992G>A	c.(1990-1992)CCG>CCA	p.P664P	MET_uc010lkh.2_Silent_p.P664P|MET_uc011kne.1_Silent_p.P636P|MET_uc011knf.1_Silent_p.P664P|MET_uc011kng.1_Silent_p.P664P|MET_uc011knh.1_Silent_p.P664P|MET_uc011kni.1_Silent_p.P664P|MET_uc011knj.1_Silent_p.P234P	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	664	Extracellular (Potential).|IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTATTTCGCCGAAATACGGTC	0.333			Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)			
PTPRZ1	5803	broad.mit.edu	37	7	121650506	121650506	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:121650506G>A	uc003vjy.2	+	12	1801	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H	PTPRZ1_uc003vjz.2_Missense_Mutation_p.R469H|PTPRZ1_uc011knt.1_5'UTR	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	469	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CACTACAATCGCATAGGGACG	0.428												
GCC1	79571	broad.mit.edu	37	7	127225103	127225103	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:127225103A>G	uc003vma.2	-	1	552	c.134T>C	c.(133-135)CTG>CCG	p.L45P		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	45	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						CTCCTTCAGCAGGCTTTTATA	0.567											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
LEP	3952	broad.mit.edu	37	7	127894749	127894749	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:127894749C>G	uc003vml.2	+	3	494	c.437C>G	c.(436-438)GCC>GGC	p.A146G	LEP_uc003vmm.2_Missense_Mutation_p.A145G	NM_000230	NP_000221	P41159	LEP_HUMAN	leptin precursor	146					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space					0						GAGGTGGTGGCCCTGAGCAGG	0.622												
FLNC	2318	broad.mit.edu	37	7	128493526	128493526	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:128493526A>G	uc003vnz.3	+	38	6421	c.6212A>G	c.(6211-6213)TAT>TGT	p.Y2071C	FLNC_uc003voa.3_Missense_Mutation_p.Y2038C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2071	Filamin 19.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CCCCCAGGTTATGGGGGCTTG	0.577												
ZC3HC1	51530	broad.mit.edu	37	7	129662199	129662199	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:129662199G>A	uc003vpi.2	-	9	1427	c.1400C>T	c.(1399-1401)GCG>GTG	p.A467V	ZC3HC1_uc003vph.2_Missense_Mutation_p.A311V|ZC3HC1_uc010lma.2_Missense_Mutation_p.A283V	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	zinc finger, C3HC type 1	467					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)					CTGTTTGTGCGCCAAGAGGAT	0.562												
CPA5	93979	broad.mit.edu	37	7	130007750	130007750	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:130007750G>A	uc010lmd.1	+	13	1662	c.1042G>A	c.(1042-1044)GAT>AAT	p.D348N	CPA5_uc003vps.2_Missense_Mutation_p.D348N|CPA5_uc003vpt.2_Intron|CPA5_uc010lme.1_Missense_Mutation_p.D348N|CPA5_uc003vpu.1_Missense_Mutation_p.D348N|uc003vpv.1_RNA	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	348					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)					CTTGCAGTACGATCTTGCCAA	0.582												
AKR1B10	57016	broad.mit.edu	37	7	134225823	134225823	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:134225823C>A	uc003vrr.2	+	10	1253	c.933C>A	c.(931-933)CCC>CCA	p.P311P		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	311					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			skin(5)	5						AAGACTATCCCTTCAATGCAG	0.398												
HIPK2	28996	broad.mit.edu	37	7	139268706	139268706	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:139268706C>T	uc003vvf.3	-	13	2996	c.2822G>A	c.(2821-2823)CGT>CAT	p.R941H	HIPK2_uc003vvd.3_Missense_Mutation_p.R914H	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	941	Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).|Interaction with AXIN1 (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.R941H(1)		ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					GTGCCCAGCACGCTGCTGCAC	0.577												
DENND2A	27147	broad.mit.edu	37	7	140301369	140301369	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:140301369C>T	uc010lnj.2	-	1	974	c.829G>A	c.(829-831)GGA>AGA	p.G277R	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.G277R|DENND2A_uc003vvw.2_Missense_Mutation_p.G277R|DENND2A_uc003vvx.2_Missense_Mutation_p.G277R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	277										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					TCCCCTTCTCCGGCATGTTTG	0.438												
MGAM	8972	broad.mit.edu	37	7	141739966	141739966	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:141739966G>A	uc003vwy.2	+	20	2422	c.2368G>A	c.(2368-2370)GAG>AAG	p.E790K		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	790	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTATGACTACGAGACTGTAAG	0.418												
MGAM	8972	broad.mit.edu	37	7	141752641	141752641	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:141752641A>G	uc003vwy.2	+	26	3070	c.3016A>G	c.(3016-3018)AGT>GGT	p.S1006G		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1006	Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACTCTGTCAGTGATGTTCA	0.473												
FAM131B	9715	broad.mit.edu	37	7	143054384	143054384	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:143054384A>G	uc003wct.2	-	5	2221	c.515T>C	c.(514-516)ATG>ACG	p.M172T	FAM131B_uc010loz.2_Missense_Mutation_p.M140T|FAM131B_uc003wcu.3_Missense_Mutation_p.M172T|FAM131B_uc010lpa.2_Missense_Mutation_p.M200T	NM_014690	NP_055505	Q86XD5	F131B_HUMAN	hypothetical protein LOC9715 isoform b	172											0	Melanoma(164;0.205)					CTGACTGTCCATCAGTTCCTG	0.522												
ZYX	7791	broad.mit.edu	37	7	143079937	143079937	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:143079937G>A	uc003wcw.2	+	5	700	c.545G>A	c.(544-546)AGT>AAT	p.S182N	ZYX_uc011ktd.1_Missense_Mutation_p.S25N|ZYX_uc003wcx.2_Missense_Mutation_p.S182N|ZYX_uc011kte.1_Missense_Mutation_p.S151N|ZYX_uc011ktf.1_Missense_Mutation_p.S25N	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN	zyxin	182					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding				0	Melanoma(164;0.205)					ACTCCATTCAGTTCCAAGTCC	0.622												
OR6B1	135946	broad.mit.edu	37	7	143701249	143701249	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:143701249C>T	uc003wdt.1	+	1	160	c.160C>T	c.(160-162)CCA>TCA	p.P54S		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					GCAAAATCGGCCACTGCACAA	0.473												
CHPF2	54480	broad.mit.edu	37	7	150932678	150932678	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:150932678G>A	uc003wjr.1	+	2	2321	c.808G>A	c.(808-810)GGC>AGC	p.G270S	CHPF2_uc003wjq.1_Missense_Mutation_p.G262S|MIR671_hsa-mir-671|MI0003760_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	270	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						TCTGGGCGTCGGCTGTGTCTC	0.592												
HTR5A	3361	broad.mit.edu	37	7	154863287	154863287	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:154863287T>C	uc003wlu.1	+	1	742	c.678T>C	c.(676-678)GCT>GCC	p.A226A	uc011kvt.1_5'Flank|uc003wlt.2_5'Flank	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	226	Cytoplasmic (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TCTACAAGGCTGCCAAGTTCC	0.552												
DLGAP2	9228	broad.mit.edu	37	8	1497246	1497246	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:1497246G>A	uc003wpl.2	+	2	484	c.387G>A	c.(385-387)ACG>ACA	p.T129T	DLGAP2_uc003wpm.2_Silent_p.T129T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	208					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)		GCTTCCACACGCTGCAGTACC	0.687												
CSMD1	64478	broad.mit.edu	37	8	3046521	3046521	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:3046521C>A	uc011kwk.1	-	35	5804	c.5414G>T	c.(5413-5415)GGC>GTC	p.G1805V	CSMD1_uc011kwj.1_Missense_Mutation_p.G1197V|CSMD1_uc003wqe.2_Missense_Mutation_p.G961V|CSMD1_uc010lrg.2_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1805	Extracellular (Potential).|CUB 11.					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)		AGTGAAATTGCCACTGCAGGG	0.458												
CSMD1	64478	broad.mit.edu	37	8	3263662	3263662	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:3263662G>A	uc011kwk.1	-	15	2546	c.2156C>T	c.(2155-2157)TCG>TTG	p.S719L	CSMD1_uc011kwj.1_Missense_Mutation_p.S111L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	719	Sushi 4.|Extracellular (Potential).					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)		GAAAGAAACCGAGCTCCCGAG	0.498												
ANGPT2	285	broad.mit.edu	37	8	6366532	6366532	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:6366532G>A	uc003wqj.3	-	8	1580	c.1251C>T	c.(1249-1251)AGC>AGT	p.S417S	MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Silent_p.S416S|ANGPT2_uc010lri.2_Silent_p.S365S|ANGPT2_uc003wql.3_Silent_p.S416S	NM_001147	NP_001138	O15123	ANGP2_HUMAN	angiopoietin 2 isoform a precursor	417	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			upper_aerodigestive_tract(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TTCCTGGTTGGCTGATGCTGC	0.408												
TNKS	8658	broad.mit.edu	37	8	9413606	9413606	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:9413606C>A	uc003wss.2	+	1	162	c.157C>A	c.(157-159)CTG>ATG	p.L53M	TNKS_uc011kwv.1_Missense_Mutation_p.L53M|uc003wsr.1_RNA	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	53					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)		GGCCAGCGGCCTGGCCCCCTT	0.791												
RP1L1	94137	broad.mit.edu	37	8	10465175	10465175	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:10465175A>G	uc003wtc.2	-	4	6662	c.6433T>C	c.(6433-6435)TCA>CCA	p.S2145P		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2145					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		ACACCTTCTGACTCAGGCTGG	0.602												
RP1L1	94137	broad.mit.edu	37	8	10470245	10470245	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:10470245G>A	uc003wtc.2	-	4	1592	c.1363C>T	c.(1363-1365)CCA>TCA	p.P455S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	455					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CTGGAGGCTGGGCTGGCACTG	0.721												
DLC1	10395	broad.mit.edu	37	8	12957275	12957275	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:12957275G>A	uc003wwm.2	-	9	3015	c.2571C>T	c.(2569-2571)AGC>AGT	p.S857S	DLC1_uc003wwk.1_Silent_p.S420S|DLC1_uc003wwl.1_Silent_p.S454S|DLC1_uc011kxx.1_Silent_p.S346S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	857					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TGGGGCTGTCGCTACTGTTTT	0.582												
MTUS1	57509	broad.mit.edu	37	8	17611729	17611729	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:17611729C>T	uc003wxv.2	-	2	2062	c.1588G>A	c.(1588-1590)GTC>ATC	p.V530I	MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.V530I|MTUS1_uc010lsz.2_Missense_Mutation_p.V530I	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	530						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		CTGGGCGTGACCTTTGATAAA	0.438												
PCM1	5108	broad.mit.edu	37	8	17823525	17823525	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:17823525C>T	uc003wyi.3	+	19	3295	c.2873C>T	c.(2872-2874)CCT>CTT	p.P958L	PCM1_uc011kyh.1_Missense_Mutation_p.P958L|PCM1_uc003wyj.3_Missense_Mutation_p.P959L	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	958					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36				Colorectal(111;0.0789)		AACAATTGCCCTTTTTCGGCA	0.388			T	RET|JAK2	papillary thyroid|CML|MPD							
INTS10	55174	broad.mit.edu	37	8	19677153	19677153	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:19677153C>T	uc003wzj.2	+	3	398	c.267C>T	c.(265-267)AAC>AAT	p.N89N		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	89					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CATTAAGGAACGATTCACAGG	0.313												
FAM160B2	64760	broad.mit.edu	37	8	21958199	21958199	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:21958199G>A	uc011kyx.1	+	11	1487	c.1436G>A	c.(1435-1437)CGC>CAC	p.R479H	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	479											0						CTTGAGGGCCGCCCTTACGTG	0.622												
LGI3	203190	broad.mit.edu	37	8	22005871	22005871	+	Silent	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:22005871C>A	uc003xav.2	-	8	1738	c.1449G>T	c.(1447-1449)CTG>CTT	p.L483L	LGI3_uc010ltu.2_Silent_p.L459L	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	483	EAR 6.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		AATCACTGCCCAGTGCCAGGT	0.652												
POLR3D	661	broad.mit.edu	37	8	22106824	22106824	+	Splice_Site	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:22106824T>C	uc003xbl.2	+	7	1004	c.921_splice	c.e7+2	p.R307_splice	POLR3D_uc003xbm.2_Splice_Site_p.R307_splice|POLR3D_uc011kze.1_Intron	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide						innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AAAGACCGAGTACGCTCAGAC	0.602												
PPP3CC	5533	broad.mit.edu	37	8	22370819	22370819	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:22370819C>T	uc003xbs.2	+	6	971	c.644C>T	c.(643-645)ACG>ATG	p.T215M	PPP3CC_uc003xbr.1_Missense_Mutation_p.T215M|PPP3CC_uc011kzi.1_Missense_Mutation_p.T215M|PPP3CC_uc003xbt.2_Missense_Mutation_p.T215M	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	215					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GACAGGTTTACGGAACCTCCC	0.443												
RHOBTB2	23221	broad.mit.edu	37	8	22874896	22874896	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:22874896C>T	uc003xcq.2	+	10	2635	c.2098C>T	c.(2098-2100)CGT>TGT	p.R700C	RHOBTB2_uc003xcp.2_Missense_Mutation_p.R722C|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R707C|uc003xcr.2_Intron	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	700					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)		GCCCAAACGGCGTTGGCTCTT	0.448												
ENTPD4	9583	broad.mit.edu	37	8	23299177	23299177	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:23299177G>A	uc003xdl.2	-	8	951	c.787C>T	c.(787-789)CGT>TGT	p.R263C	ENTPD4_uc011kzu.1_Missense_Mutation_p.R263C|ENTPD4_uc003xdm.2_Missense_Mutation_p.R263C|ENTPD4_uc011kzv.1_Missense_Mutation_p.R263C	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	263	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GTCCTTTTACGGACAATGGCT	0.493												
NEFL	4747	broad.mit.edu	37	8	24811219	24811219	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:24811219G>A	uc003xee.2	-	3	1362	c.1260C>T	c.(1258-1260)GGC>GGT	p.G420G		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	420	Tail.|Tail, subdomain A.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGGCAGATCGGCCAAAGACCT	0.577												
NEFL	4747	broad.mit.edu	37	8	24813883	24813883	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:24813883G>T	uc003xee.2	-	1	249	c.147C>A	c.(145-147)TCC>TCA	p.S49S		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	49	Head.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGGACAGCGAGGAAGACACCG	0.657												
DOCK5	80005	broad.mit.edu	37	8	25253206	25253206	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:25253206G>A	uc003xeg.2	+	45	4812	c.4675G>A	c.(4675-4677)GTC>ATC	p.V1559I	PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xei.2_Missense_Mutation_p.V1129I|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1559	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGACCCGGCCGTCATGGGGGG	0.582												
EBF2	64641	broad.mit.edu	37	8	25747347	25747347	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:25747347G>T	uc003xes.1	-	8	689	c.672C>A	c.(670-672)GTC>GTA	p.V224V	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_5'Flank	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	224					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AAACAGCCAGGACGTGTCCAT	0.473												
TRIM35	23087	broad.mit.edu	37	8	27145436	27145436	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:27145436G>A	uc003xfl.1	-	6	1195	c.1113C>T	c.(1111-1113)GGC>GGT	p.G371G	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	371	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CACGTACCACGCCCACCCTCC	0.697												
TRIM35	23087	broad.mit.edu	37	8	27145561	27145561	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:27145561G>A	uc003xfl.1	-	6	1070	c.988C>T	c.(988-990)CGC>TGC	p.R330C	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	330	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ACCTGCACGCGGTAGCCATGG	0.657												
PTK2B	2185	broad.mit.edu	37	8	27297913	27297913	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:27297913A>G	uc003xfn.1	+	26	2802	c.1994A>G	c.(1993-1995)GAC>GGC	p.D665G	PTK2B_uc003xfo.1_Missense_Mutation_p.D665G|PTK2B_uc003xfp.1_Missense_Mutation_p.D665G|PTK2B_uc003xfq.1_Missense_Mutation_p.D665G|PTK2B_uc003xfr.1_Missense_Mutation_p.D411G	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	665	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGGGACTACGACCCCAGTGAC	0.652												
CHRNA2	1135	broad.mit.edu	37	8	27320707	27320707	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:27320707T>A	uc010lur.2	-	6	1862	c.1253A>T	c.(1252-1254)GAG>GTG	p.E418V	CHRNA2_uc011lal.1_Missense_Mutation_p.E403V|CHRNA2_uc010lus.2_Missense_Mutation_p.E220V	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	418	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GTCCTCCTCCTCCACCACCAC	0.657												
CHRNA2	1135	broad.mit.edu	37	8	27320973	27320973	+	Silent	SNP	G	G	A	rs147530139		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:27320973G>A	uc010lur.2	-	6	1596	c.987C>T	c.(985-987)GGC>GGT	p.G329G	CHRNA2_uc011lal.1_Silent_p.G314G|CHRNA2_uc010lus.2_Silent_p.G131G	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	329						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GCAGGTACTCGCCGATGAGCG	0.582												
SCARA5	286133	broad.mit.edu	37	8	27737278	27737278	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:27737278C>T	uc003xgj.2	-	8	1599	c.1159G>A	c.(1159-1161)GTG>ATG	p.V387M	SCARA5_uc010luz.2_Missense_Mutation_p.V162M	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	387	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGGGCCTCCACGCCACCTGCC	0.657												
KIF13B	23303	broad.mit.edu	37	8	29007824	29007824	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:29007824G>T	uc003xhh.3	-	15	1671	c.1612C>A	c.(1612-1614)CAT>AAT	p.H538N	KIF13B_uc003xhj.2_Missense_Mutation_p.H435N|KIF13B_uc010lvf.1_Missense_Mutation_p.H474N	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	538					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTGAAGAAATGATTGTTTCCC	0.368												
TEX15	56154	broad.mit.edu	37	8	30702408	30702408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:30702408G>A	uc003xil.2	-	1	4126	c.4126C>T	c.(4126-4128)CAG>TAG	p.Q1376*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1376										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTACAGCTCTGCTCACAGTGT	0.398												
TEX15	56154	broad.mit.edu	37	8	30703828	30703828	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:30703828G>T	uc003xil.2	-	1	2706	c.2706C>A	c.(2704-2706)GAC>GAA	p.D902E		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	902										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TATCATTATAGTCAGTTTTTG	0.318												
PURG	29942	broad.mit.edu	37	8	30889409	30889409	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:30889409C>T	uc003xin.2	-	1	909	c.890G>A	c.(889-891)CGT>CAT	p.R297H	WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Intron	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G isoform A	297						nucleus	DNA binding				0				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AATAGTATTACGGTAAGGTGG	0.378												
RNF122	79845	broad.mit.edu	37	8	33416236	33416236	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:33416236G>A	uc003xjo.1	-	2	481	c.79C>T	c.(79-81)CCC>TCC	p.P27S		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	ring finger protein 122	27						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		AAACTGATGGGTGGCATCGAG	0.463												
ADRB3	155	broad.mit.edu	37	8	37823915	37823915	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:37823915C>T	uc003xkr.1	-	1	270	c.73G>A	c.(73-75)GCC>ACC	p.A25T		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	25	Extracellular (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			lung(2)	2	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	CTGGTGTTGGCGGTATTGGGC	0.726												
BAG4	9530	broad.mit.edu	37	8	38065194	38065194	+	Silent	SNP	T	T	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:38065194T>G	uc003xky.1	+	3	825	c.543T>G	c.(541-543)ACT>ACG	p.T181T	BAG4_uc003xkz.1_Silent_p.T145T	NM_004874	NP_004865	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	181					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				ACAGCCCAACTCCAGTCTCTC	0.517												
FGFR1	2260	broad.mit.edu	37	8	38272116	38272116	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:38272116T>C	uc003xlp.2	-	16	2951	c.2009A>G	c.(2008-2010)GAG>GGG	p.E670G	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.E668G|FGFR1_uc011lbp.1_Missense_Mutation_p.E581G|FGFR1_uc011lbq.1_Missense_Mutation_p.E579G|FGFR1_uc010lwk.2_Missense_Mutation_p.E660G	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	670	Cytoplasmic (Potential).|Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	AAATAATGCCTCGGGTGCCAT	0.567		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome					
ANK1	286	broad.mit.edu	37	8	41542084	41542084	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:41542084C>T	uc003xok.2	-	37	4599	c.4515G>A	c.(4513-4515)TCG>TCA	p.S1505S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.S821S|ANK1_uc003xoi.2_Silent_p.S1505S|ANK1_uc003xoj.2_Silent_p.S1505S|ANK1_uc003xol.2_Silent_p.S1505S|ANK1_uc003xom.2_Silent_p.S1546S	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1505	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGGTGACAGCGAGTAGTCGC	0.612												
MYST3	7994	broad.mit.edu	37	8	41791371	41791371	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:41791371A>G	uc010lxb.2	-	18	4911	c.4367T>C	c.(4366-4368)CTG>CCG	p.L1456P	MYST3_uc010lxc.2_Missense_Mutation_p.L1456P|MYST3_uc003xon.3_Missense_Mutation_p.L1456P	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1456					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			GTAACTCTGCAGGGTCTGACA	0.527												
MYST3	7994	broad.mit.edu	37	8	41798364	41798364	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:41798364C>T	uc010lxb.2	-	16	3579	c.3035G>A	c.(3034-3036)CGA>CAA	p.R1012Q	MYST3_uc010lxc.2_Missense_Mutation_p.R1012Q|MYST3_uc003xon.3_Missense_Mutation_p.R1012Q	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1012					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CGTTACCTTTCGCTTCAGCGT	0.498												
CHRNA6	8973	broad.mit.edu	37	8	42611206	42611206	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:42611206G>A	uc003xpj.2	-	5	1182	c.1136C>T	c.(1135-1137)GCC>GTC	p.A379V	CHRNA6_uc011lcw.1_Missense_Mutation_p.A364V	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	379	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTTGCCTTTGGCAGGCCTCCT	0.537												
PXDNL	137902	broad.mit.edu	37	8	52322022	52322022	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:52322022C>T	uc003xqu.3	-	17	2263	c.2162G>A	c.(2161-2163)CGG>CAG	p.R721Q	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	721					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)				ATGGAAACACCGGTTGGAGCA	0.637												
PCMTD1	115294	broad.mit.edu	37	8	52744035	52744035	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:52744035A>G	uc003xqx.3	-	5	1016	c.675T>C	c.(673-675)AAT>AAC	p.N225N	PCMTD1_uc011ldm.1_Silent_p.N95N|PCMTD1_uc003xqw.3_Silent_p.N225N|PCMTD1_uc011ldn.1_Silent_p.N37N|PCMTD1_uc010lya.2_Silent_p.N149N	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	225						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGCCATTATCATTCTTACTTG	0.368												
OPRK1	4986	broad.mit.edu	37	8	54163444	54163444	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:54163444C>G	uc003xrh.1	-	1	529	c.154G>C	c.(154-156)GCG>CCG	p.A52P	OPRK1_uc003xri.1_Missense_Mutation_p.A52P|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	52	Extracellular (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GAGATGTGCGCGGGCTCCAGC	0.682												
ATP6V1H	51606	broad.mit.edu	37	8	54708293	54708293	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:54708293G>A	uc003xrl.2	-	9	936	c.784C>T	c.(784-786)CGC>TGC	p.R262C	ATP6V1H_uc003xrk.2_Missense_Mutation_p.R222C|ATP6V1H_uc003xrm.2_Missense_Mutation_p.R262C|ATP6V1H_uc003xrn.2_Missense_Mutation_p.R244C|ATP6V1H_uc011ldv.1_Missense_Mutation_p.R182C|ATP6V1H_uc010lyd.2_Missense_Mutation_p.R198C	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	262					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			ATATTATAGCGCCGCAGGTGT	0.408												
LYPLA1	10434	broad.mit.edu	37	8	54978307	54978307	+	Splice_Site	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:54978307C>T	uc003xry.2	-	3	361	c.167_splice	c.e3+1	p.A56_splice	LYPLA1_uc011ldx.1_Splice_Site_p.A51_splice|LYPLA1_uc003xrz.2_Splice_Site_p.A51_splice	NM_006330	NP_006321	O75608	LYPA1_HUMAN	lysophospholipase 1						fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GAAATACTCACGCATGCGGGC	0.398												
RP1	6101	broad.mit.edu	37	8	55533673	55533673	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:55533673C>T	uc003xsd.1	+	2	295	c.147C>T	c.(145-147)GGC>GGT	p.G49G	RP1_uc011ldy.1_Silent_p.G49G	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	49	Doublecortin 1.				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)			CCCAATTCGGCGGGGTCAGGG	0.547												
RP1	6101	broad.mit.edu	37	8	55541306	55541306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:55541306G>T	uc003xsd.1	+	4	5012	c.4864G>T	c.(4864-4866)GAA>TAA	p.E1622*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1622					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)			CCAAGAGAAAGAATATAACAT	0.403												
PENK	5179	broad.mit.edu	37	8	57354427	57354427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:57354427G>A	uc003xsz.2	-	2	289	c.208C>T	c.(208-210)CAG>TAG	p.Q70*	PENK_uc003xta.3_Nonsense_Mutation_p.Q70*	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	70					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTGGACAGCTGCAGGAGCTCC	0.453												
PENK	5179	broad.mit.edu	37	8	57358454	57358454	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:57358454G>A	uc003xsz.2	-	1	140	c.59C>T	c.(58-60)GCG>GTG	p.A20V	uc003xtb.1_RNA|PENK_uc003xta.3_Missense_Mutation_p.A20V|PENK_uc010lym.2_Missense_Mutation_p.A20V	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	20					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCGCACGGTCGCCAGGAGCCC	0.677												
ASPH	444	broad.mit.edu	37	8	62465665	62465665	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:62465665G>A	uc003xuj.2	-	20	1820	c.1551C>T	c.(1549-1551)TCC>TCT	p.S517S	ASPH_uc011leg.1_Silent_p.S488S	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	517	TPR 3.|Lumenal (Potential).				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CAGGATCTCCGGATTCTATTC	0.388												
TRIM55	84675	broad.mit.edu	37	8	67064625	67064625	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:67064625A>T	uc003xvv.2	+	8	1225	c.999A>T	c.(997-999)GAA>GAT	p.E333D	TRIM55_uc003xvu.2_Missense_Mutation_p.E333D|TRIM55_uc003xvw.2_Missense_Mutation_p.E333D|TRIM55_uc003xvx.2_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	333						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			atgaagatgaagaagaagaag	0.199												
VCPIP1	80124	broad.mit.edu	37	8	67547317	67547317	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:67547317G>C	uc003xwn.2	-	3	3347	c.3088C>G	c.(3088-3090)CAT>GAT	p.H1030D		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	1030					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCTAAAGAATGCCCTTTTCCC	0.413												
ARFGEF1	10565	broad.mit.edu	37	8	68179131	68179131	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:68179131G>T	uc003xxo.1	-	13	2291	c.1901C>A	c.(1900-1902)CCC>CAC	p.P634H	ARFGEF1_uc003xxl.1_Missense_Mutation_p.P88H	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	634					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTGGGAGTTGGGATTCACATA	0.363												
ARFGEF1	10565	broad.mit.edu	37	8	68213459	68213459	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:68213459C>A	uc003xxo.1	-	3	702	c.312G>T	c.(310-312)CAG>CAT	p.Q104H		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	104					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAGACATACCTGTAAGCAAT	0.353												
CPA6	57094	broad.mit.edu	37	8	68396943	68396943	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:68396943C>T	uc003xxq.3	-	7	974	c.718G>A	c.(718-720)GTC>ATC	p.V240I	CPA6_uc003xxr.3_Missense_Mutation_p.V92I|CPA6_uc003xxs.2_Missense_Mutation_p.V240I	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	240					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TATCCATCGACGTTAAACACA	0.363												
CPA6	57094	broad.mit.edu	37	8	68421815	68421815	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:68421815T>C	uc003xxq.3	-	5	727	c.471A>G	c.(469-471)TCA>TCG	p.S157S	CPA6_uc003xxr.3_Silent_p.S9S|CPA6_uc003xxs.2_Silent_p.S157S	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	157					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GAATGAGGCCTGAGTGAGTTT	0.303												
EYA1	2138	broad.mit.edu	37	8	72211324	72211324	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:72211324G>A	uc003xys.3	-	8	1071	c.784C>T	c.(784-786)CCA>TCA	p.P262S	EYA1_uc003xyr.3_Missense_Mutation_p.P257S|EYA1_uc003xyt.3_Missense_Mutation_p.P229S|EYA1_uc010lzf.2_Missense_Mutation_p.P189S|EYA1_uc003xyu.2_Missense_Mutation_p.P262S|EYA1_uc011lfe.1_Missense_Mutation_p.P256S|EYA1_uc003xyv.2_Missense_Mutation_p.P140S	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	262					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ATGCCAGATGGCGGTTCTTGA	0.448												
PI15	51050	broad.mit.edu	37	8	75737735	75737735	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:75737735C>T	uc003yal.2	+	2	430	c.251C>T	c.(250-252)CCG>CTG	p.P84L	uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.P84L	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	84						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTGTTCCCACCGGCAGCAAAT	0.398												
ZFHX4	79776	broad.mit.edu	37	8	77766976	77766976	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:77766976C>T	uc003yav.2	+	10	8071	c.7684C>T	c.(7684-7686)CGC>TGC	p.R2562C	ZFHX4_uc003yau.1_Missense_Mutation_p.R2607C|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2562C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2562	Homeobox 3.					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)			CCGAGATAAACGCTTGAGAAC	0.423										HNSCC(33;0.089)		
PEX2	5828	broad.mit.edu	37	8	77895611	77895611	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:77895611A>G	uc003yax.2	-	4	1262	c.804T>C	c.(802-804)GCT>GCC	p.A268A	PEX2_uc003yay.2_Silent_p.A268A|PEX2_uc003yaz.2_Silent_p.A268A	NM_000318	NP_000309	P28328	PEX2_HUMAN	peroxin 2	268	RING-type.				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			ovary(1)	1						AACTACTCTTAGCACAGAAAT	0.443												
FAM164A	51101	broad.mit.edu	37	8	79609706	79609706	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:79609706T>C	uc003ybd.2	+	6	671	c.569T>C	c.(568-570)TTA>TCA	p.L190S		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	190										ovary(1)	1						TCTTCACGATTACCGCAGCCA	0.388												
FAM164A	51101	broad.mit.edu	37	8	79629706	79629706	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:79629706G>A	uc003ybd.2	+	9	1058	c.956G>A	c.(955-957)GGC>GAC	p.G319D		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	319										ovary(1)	1						TGTGAATGTGGCATTCGAAGA	0.383												
HEY1	23462	broad.mit.edu	37	8	80677870	80677870	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:80677870C>T	uc003ybm.2	-	5	668	c.468G>A	c.(466-468)TCG>TCA	p.S156S	HEY1_uc010lzq.2_Silent_p.S37S|HEY1_uc003ybl.2_Silent_p.S160S	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	hairy/enhancer-of-split related with YRPW motif	156	Orange.				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding			lung(3)	3	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			TGTTGAGATGCGAAACCAGTC	0.597											OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HEY1	23462	broad.mit.edu	37	8	80677994	80677994	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:80677994G>A	uc003ybm.2	-	5	544	c.344C>T	c.(343-345)GCG>GTG	p.A115V	HEY1_uc010lzq.2_5'UTR|HEY1_uc003ybl.2_Missense_Mutation_p.A119V	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	hairy/enhancer-of-split related with YRPW motif	115	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding			lung(3)	3	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			AAGGGCGTGCGCGTCAAAGTA	0.488											OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF704	619279	broad.mit.edu	37	8	81605280	81605280	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:81605280G>A	uc003yby.1	-	3	516	c.284C>T	c.(283-285)TCG>TTG	p.S95L		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	95						intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			AGGGCTAGTCGACAAGCTGGT	0.507												
FABP9	646480	broad.mit.edu	37	8	82373717	82373717	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:82373717A>G	uc011lfo.1	-	1	42	c.42T>C	c.(40-42)AGT>AGC	p.S14S		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	14							lipid binding|transporter activity				0			Epithelial(68;0.186)			CAAAGTTTTCACTGGAGACCA	0.398												
CA13	377677	broad.mit.edu	37	8	86171714	86171714	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:86171714C>T	uc003ydg.2	+	3	642	c.300C>T	c.(298-300)TCC>TCT	p.S100S	CA13_uc003ydf.1_RNA	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	100					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0						ACTGGGGGTCCGCTGATGACC	0.483												
CNBD1	168975	broad.mit.edu	37	8	88296993	88296993	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:88296993G>A	uc003ydy.2	+	7	907	c.859G>A	c.(859-861)GAT>AAT	p.D287N		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	287										ovary(3)	3						GACAGAAGACGATTGTGAAAT	0.363												
MMP16	4325	broad.mit.edu	37	8	89068388	89068388	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:89068388G>A	uc003yeb.3	-	8	1623	c.1341C>T	c.(1339-1341)GAC>GAT	p.D447D		NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	447	Extracellular (Potential).|Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						TTTTCCCGACGTCCTCCCACC	0.413												
CALB1	793	broad.mit.edu	37	8	91095086	91095086	+	Translation_Start_Site	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:91095086G>A	uc003yel.1	-	1	22	c.-160C>T	c.(-162--158)AACGC>AATGC		CALB1_uc003yem.1_Intron	NM_004929	NP_004920	P05937	CALB1_HUMAN	calbindin 1							nucleus	calcium ion binding|vitamin D binding			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCAGCTCAGCGTTCCTCCAGA	0.667												
OTUD6B	51633	broad.mit.edu	37	8	92090768	92090768	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:92090768T>G	uc003yeu.3	+	4	689	c.590T>G	c.(589-591)CTG>CGG	p.L197R	OTUD6B_uc011lgh.1_Missense_Mutation_p.L66R	NM_016023	NP_057107	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	167	OTU.									ovary(2)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GAAGATCAACTGAAAGAAAAG	0.398												
RUNX1T1	862	broad.mit.edu	37	8	92998502	92998502	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:92998502C>T	uc003yfd.2	-	8	1213	c.1129G>A	c.(1129-1131)GTA>ATA	p.V377I	RUNX1T1_uc003yfc.1_Missense_Mutation_p.V350I|RUNX1T1_uc003yfe.1_Missense_Mutation_p.V340I|RUNX1T1_uc010mao.2_Missense_Mutation_p.V350I|RUNX1T1_uc011lgi.1_Missense_Mutation_p.V388I|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.V340I	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	377	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CGCCTTAGTACGGTGAGAGAT	0.458												
RBM12B	389677	broad.mit.edu	37	8	94746311	94746311	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:94746311C>T	uc003yfz.2	-	3	2521	c.2328G>A	c.(2326-2328)CCG>CCA	p.P776P		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	776							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGAAGTGCTCCGGGGGCGGGC	0.662												
INTS8	55656	broad.mit.edu	37	8	95892358	95892358	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:95892358G>A	uc003yhb.2	+	27	3010	c.2884G>A	c.(2884-2886)GGC>AGC	p.G962S	INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.G772S	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	962					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					CAAAGCCATCGGCCAGACAGA	0.383												
STK3	6788	broad.mit.edu	37	8	99560281	99560281	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:99560281G>T	uc003yip.2	-	9	1198	c.1057C>A	c.(1057-1059)CAT>AAT	p.H353N	STK3_uc003yio.2_Missense_Mutation_p.H381N|STK3_uc010mbm.1_Missense_Mutation_p.H242N	NM_006281	NP_006272	Q13188	STK3_HUMAN	serine/threonine kinase 3	353					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GTGCTATTATGTTCAATCATG	0.483												
FBXO43	286151	broad.mit.edu	37	8	101146188	101146188	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:101146188G>T	uc003yjd.2	-	5	2682	c.1969C>A	c.(1969-1971)CTG>ATG	p.L657M	FBXO43_uc003yje.2_Missense_Mutation_p.L623M	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	657	IBR-type.				meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CGGCTACACAGTCCCCTTTTC	0.448												
PABPC1	26986	broad.mit.edu	37	8	101730087	101730087	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:101730087G>A	uc003yjs.1	-	3	921	c.417C>T	c.(415-417)GGC>GGT	p.G139G	PABPC1_uc011lhc.1_Silent_p.G107G|PABPC1_uc011lhd.1_Silent_p.G94G|PABPC1_uc003yjt.1_Silent_p.G139G|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	139	RRM 2.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CAAATCCATAGCCCTTGGAAC	0.348												
SLC25A32	81034	broad.mit.edu	37	8	104413839	104413839	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:104413839G>A	uc003yll.2	-	6	1020	c.717C>T	c.(715-717)GTC>GTT	p.V239V	SLC25A32_uc011lhr.1_Silent_p.V107V	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	solute carrier family 25, member 32	239	Solcar 3.|Helical; Name=5; (Potential).				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	ATGTTGCTGCGACAGCAAATA	0.363												
RIMS2	9699	broad.mit.edu	37	8	104987622	104987622	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:104987622G>C	uc003yls.2	+	14	2390	c.2149G>C	c.(2149-2151)GTG>CTG	p.V717L	RIMS2_uc003ylp.2_Missense_Mutation_p.V939L|RIMS2_uc003ylw.2_Missense_Mutation_p.V731L|RIMS2_uc003ylq.2_Missense_Mutation_p.V731L|RIMS2_uc003ylr.2_Missense_Mutation_p.V778L|RIMS2_uc003ylt.2_Missense_Mutation_p.V324L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1001					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)			AACATTATCAGTGCCAGAACA	0.388										HNSCC(12;0.0054)		
TM7SF4	81501	broad.mit.edu	37	8	105361777	105361777	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:105361777G>T	uc003ylx.1	+	2	1046	c.997G>T	c.(997-999)GGG>TGG	p.G333W		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	333					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAGCTTGCCAGGGTTTGAGGT	0.373												
ANGPT1	284	broad.mit.edu	37	8	108306229	108306229	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:108306229T>C	uc003ymn.2	-	6	1441	c.973A>G	c.(973-975)ACT>GCT	p.T325A	ANGPT1_uc011lhv.1_Missense_Mutation_p.T125A|ANGPT1_uc003ymo.2_Missense_Mutation_p.T324A|ANGPT1_uc003ymp.3_Missense_Mutation_p.T124A	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	325	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGTATTACAGTCCAACCTCCC	0.343												
PKHD1L1	93035	broad.mit.edu	37	8	110477304	110477304	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:110477304G>A	uc003yne.2	+	49	8347	c.8243G>A	c.(8242-8244)CGT>CAT	p.R2748H		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2748	Extracellular (Potential).|PbH1 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACTTTGACCGTCCCAACTGT	0.473										HNSCC(38;0.096)		
SYBU	55638	broad.mit.edu	37	8	110590246	110590246	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:110590246C>A	uc003ynj.3	-	6	898	c.735G>T	c.(733-735)AGG>AGT	p.R245S	SYBU_uc003yni.3_Missense_Mutation_p.R242S|SYBU_uc003ynk.3_Missense_Mutation_p.R126S|SYBU_uc010mco.2_Missense_Mutation_p.R244S|SYBU_uc003ynl.3_Missense_Mutation_p.R244S|SYBU_uc010mcp.2_Missense_Mutation_p.R245S|SYBU_uc010mcq.2_Missense_Mutation_p.R245S|SYBU_uc003yno.3_Missense_Mutation_p.R126S|SYBU_uc010mcr.2_Missense_Mutation_p.R245S|SYBU_uc003ynm.3_Missense_Mutation_p.R244S|SYBU_uc003ynn.3_Missense_Mutation_p.R244S|SYBU_uc010mcs.2_Missense_Mutation_p.R126S|SYBU_uc010mct.2_Missense_Mutation_p.R245S|SYBU_uc010mcu.2_Missense_Mutation_p.R244S|SYBU_uc003ynp.3_Missense_Mutation_p.R177S|SYBU_uc010mcv.2_Missense_Mutation_p.R245S|SYBU_uc003ynh.3_Missense_Mutation_p.R39S|SYBU_uc011lhw.1_Missense_Mutation_p.R115S	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	245	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						TTCCAGAACGCCTGAAACAAT	0.368												
TRPS1	7227	broad.mit.edu	37	8	116599270	116599270	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:116599270C>T	uc003ynz.2	-	4	3078	c.2619G>A	c.(2617-2619)TCG>TCA	p.S873S	TRPS1_uc011lhy.1_Silent_p.S877S|TRPS1_uc003yny.2_Silent_p.S886S|TRPS1_uc010mcy.2_Silent_p.S873S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	873					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGTTTTCTCCCGATGCAGGAT	0.507									Langer-Giedion_syndrome			
ZHX2	22882	broad.mit.edu	37	8	123964842	123964842	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:123964842G>A	uc003ypk.1	+	3	1659	c.1092G>A	c.(1090-1092)ACG>ACA	p.T364T		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	364	Required for interaction with NFYA.|Required for repressor activity.|Required for nuclear localization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TCCTCCAGACGGCTCTACCGT	0.617												
ATAD2	29028	broad.mit.edu	37	8	124371574	124371574	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:124371574T>C	uc003yqh.3	-	11	1377	c.1269A>G	c.(1267-1269)GTA>GTG	p.V423V	ATAD2_uc011lii.1_Silent_p.V214V|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Silent_p.V423V	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TATCAAATCGTACCTGGTAAT	0.348												
FAM91A1	157769	broad.mit.edu	37	8	124799557	124799557	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:124799557G>A	uc003yqv.2	+	13	1196	c.1135G>A	c.(1135-1137)GCA>ACA	p.A379T	FAM91A1_uc011lik.1_Missense_Mutation_p.A379T|FAM91A1_uc011lil.1_Missense_Mutation_p.A137T	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	379										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)			GAAGCGCATCGCATTCCTGTT	0.378												
FER1L6	654463	broad.mit.edu	37	8	125078740	125078740	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:125078740C>T	uc003yqw.2	+	27	3833	c.3627C>T	c.(3625-3627)AAC>AAT	p.N1209N	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1209	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGCTGAAAACGTGATTGACT	0.483												
MTSS1	9788	broad.mit.edu	37	8	125565518	125565518	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:125565518G>T	uc003yrk.2	-	14	2517	c.1983C>A	c.(1981-1983)CCC>CCA	p.P661P	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Silent_p.P310P|MTSS1_uc011lin.1_Silent_p.P435P|MTSS1_uc011lio.1_Silent_p.P551P|MTSS1_uc003yri.2_Silent_p.P379P|MTSS1_uc003yrj.2_Silent_p.P636P|MTSS1_uc003yrl.2_Silent_p.P665P	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	661	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)			ACATTGAGGAGGGCATGCTGG	0.622												
KIAA0196	9897	broad.mit.edu	37	8	126088707	126088707	+	Silent	SNP	T	T	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:126088707T>G	uc003yrt.2	-	7	1076	c.747A>C	c.(745-747)ACA>ACC	p.T249T	KIAA0196_uc011lir.1_Silent_p.T101T	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	249					cell death	WASH complex				ovary(2)	2	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)			TTGCCAGGGCTGTGCTGCGAT	0.488												
GSDMC	56169	broad.mit.edu	37	8	130789698	130789698	+	Missense_Mutation	SNP	G	G	A	rs140640562	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:130789698G>A	uc003ysr.2	-	2	1018	c.136C>T	c.(136-138)CGT>TGT	p.R46C		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	46						mitochondrion				ovary(2)|skin(1)	3						AATGATGAACGAGAATCCTTC	0.418												
KCNQ3	3786	broad.mit.edu	37	8	133492426	133492426	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:133492426C>T	uc003ytj.2	-	1	579	c.354G>A	c.(352-354)CCG>CCA	p.P118P	KCNQ3_uc010mdt.2_Silent_p.P118P	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	118					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCCAGCCCCGCGGTCTCTCCA	0.522												
LRRC6	23639	broad.mit.edu	37	8	133623587	133623587	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:133623587C>T	uc003ytk.2	-	9	1071	c.997G>A	c.(997-999)GAT>AAT	p.D333N	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	333	CS.					cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACATCAACATCGATTAAAGAG	0.299												
SLA	6503	broad.mit.edu	37	8	134072364	134072364	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:134072364C>T	uc003ytz.2	-	3	874	c.42G>A	c.(40-42)AGG>AGA	p.R14R	TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Silent_p.R31R|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Silent_p.R31R|SLA_uc010mdy.1_Silent_p.R14R|SLA_uc010mdz.1_Silent_p.R14R|SLA_uc010mea.2_RNA|SLA_uc011ljd.1_Silent_p.R54R	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	Src-like-adaptor isoform a	14						endosome	SH3/SH2 adaptor activity			lung(1)|liver(1)	2	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TGGGCAGGGGCCTCTCGGCAG	0.582												
NDRG1	10397	broad.mit.edu	37	8	134256618	134256618	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:134256618C>T	uc003yuh.2	-	14	1457	c.871G>A	c.(871-873)GGC>AGC	p.G291S	NDRG1_uc003yue.1_Missense_Mutation_p.G6S|NDRG1_uc003yuf.1_Missense_Mutation_p.G102S|NDRG1_uc003yug.2_Missense_Mutation_p.G291S|NDRG1_uc010mee.2_Missense_Mutation_p.G210S|NDRG1_uc010mef.2_Missense_Mutation_p.G225S|NDRG1_uc011ljh.1_Missense_Mutation_p.G119S|NDRG1_uc011lji.1_Missense_Mutation_p.G38S|NDRG1_uc003yui.1_5'Flank	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	291					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)			TGCGGGAGGCCGCCACAGTCC	0.557												
ZFAT	57623	broad.mit.edu	37	8	135614640	135614640	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:135614640G>A	uc003yup.2	-	6	1497	c.1322C>T	c.(1321-1323)GCC>GTC	p.A441V	ZFAT_uc003yun.2_Missense_Mutation_p.A429V|ZFAT_uc003yuo.2_Missense_Mutation_p.A429V|ZFAT_uc010meh.2_Missense_Mutation_p.A429V|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A429V|ZFAT_uc010mej.2_Missense_Mutation_p.A379V|ZFAT_uc003yur.2_Missense_Mutation_p.A429V	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	441	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTACTTGGTGGCCCCATGGCC	0.592												
FAM135B	51059	broad.mit.edu	37	8	139155273	139155273	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:139155273A>T	uc003yuy.2	-	16	3791	c.3620T>A	c.(3619-3621)CTC>CAC	p.L1207H	FAM135B_uc003yux.2_Missense_Mutation_p.L1108H|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L769H|FAM135B_uc003yvb.2_3'UTR	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1207										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGATATGGAGAGGTTGTACAA	0.398										HNSCC(54;0.14)		
KCNK9	51305	broad.mit.edu	37	8	140630972	140630972	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:140630972C>T	uc003yvf.1	-	2	718	c.654G>A	c.(652-654)CCG>CCA	p.P218P	KCNK9_uc003yvg.1_Silent_p.P218P|KCNK9_uc003yve.1_RNA	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	218	Extracellular (Potential).					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			ovary(2)|lung(1)	3	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CCACGTAGAGCGGCTTCTTCT	0.557												
TRAPPC9	83696	broad.mit.edu	37	8	141297705	141297705	+	Splice_Site	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:141297705A>G	uc003yvj.2	-	13	2115	c.1981_splice	c.e13+1	p.G661_splice	TRAPPC9_uc003yvh.2_Splice_Site_p.G759_splice|TRAPPC9_uc010mel.1_Splice_Site_p.G82_splice|TRAPPC9_uc003yvi.1_Splice_Site_p.G652_splice	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform						cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						GACTCTCCTTACCGTTCACAG	0.592												
PTK2	5747	broad.mit.edu	37	8	141678425	141678425	+	Silent	SNP	G	G	A	rs141828978	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:141678425G>A	uc003yvu.2	-	30	3038	c.2808C>T	c.(2806-2808)ATC>ATT	p.I936I	PTK2_uc011ljp.1_Silent_p.I244I|PTK2_uc003yvo.2_Silent_p.I564I|PTK2_uc011ljq.1_Silent_p.I634I|PTK2_uc003yvp.2_Silent_p.I604I|PTK2_uc003yvq.2_Silent_p.I441I|PTK2_uc003yvr.2_Silent_p.I879I|PTK2_uc003yvs.2_Silent_p.I890I|PTK2_uc003yvt.2_Silent_p.I958I|PTK2_uc003yvv.2_Silent_p.I839I|PTK2_uc011ljr.1_Silent_p.I949I	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	936	Interaction with TGFB1I1.|Interaction with RGNEF (By similarity).				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGGACATCTCGATGACAGCTT	0.498											OREG0019022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PTK2	5747	broad.mit.edu	37	8	141727703	141727703	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:141727703C>T	uc003yvu.2	-	23	2366	c.2136G>A	c.(2134-2136)CCG>CCA	p.P712P	PTK2_uc011ljp.1_Silent_p.P20P|PTK2_uc003yvo.2_Silent_p.P340P|PTK2_uc011ljq.1_Silent_p.P407P|PTK2_uc003yvp.2_Silent_p.P380P|PTK2_uc003yvq.2_Silent_p.P238P|PTK2_uc003yvr.2_Silent_p.P652P|PTK2_uc003yvs.2_Silent_p.P712P|PTK2_uc003yvt.2_Silent_p.P734P|PTK2_uc003yvv.2_Silent_p.P612P|PTK2_uc011ljr.1_Silent_p.P712P	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	712	Pro-rich.|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTACCTTGGGCGGTGCTTCAT	0.507												
ZC3H3	23144	broad.mit.edu	37	8	144589967	144589967	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144589967G>T	uc003yyd.2	-	4	1693	c.1664C>A	c.(1663-1665)CCC>CAC	p.P555H		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	555					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CAGGGGGAAGGGCGGGGCGCT	0.667												
SCRIB	23513	broad.mit.edu	37	8	144874388	144874388	+	Splice_Site	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144874388A>G	uc003yzp.1	-	32	4521	c.4514_splice	c.e32+1	p.R1505_splice	SCRIB_uc003yzn.1_Splice_Site_p.R238_splice|SCRIB_uc003yzo.1_Splice_Site_p.R1505_splice	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b						activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACAGGGGCTCACCTGGCTGCC	0.701												
SCRIB	23513	broad.mit.edu	37	8	144877247	144877247	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144877247G>A	uc003yzp.1	-	27	3814	c.3807C>T	c.(3805-3807)CGC>CGT	p.R1269R	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Silent_p.R1269R	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1269					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGGCCAGGGCGCGGTAGTCCA	0.697												
SCRIB	23513	broad.mit.edu	37	8	144886086	144886086	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144886086G>A	uc003yzp.1	-	23	3152	c.3145C>T	c.(3145-3147)CGC>TGC	p.R1049C	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.R1049C	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1049	Interaction with ARHGEF7.|PDZ 3.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGCCGCTGCGAGCGGCCAGG	0.706												
PUF60	22827	broad.mit.edu	37	8	144898887	144898887	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144898887G>T	uc003yzs.2	-	12	1547	c.1483C>A	c.(1483-1485)CGC>AGC	p.R495S	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.R435S|PUF60_uc003yzt.2_Missense_Mutation_p.R478S|PUF60_uc003yzq.2_Missense_Mutation_p.R452S	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa isoform a	495	RRM 3; atypical.|Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding				0	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ATGATGACGCGGTTCACGGCC	0.517												
EPPK1	83481	broad.mit.edu	37	8	144942560	144942560	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144942560C>T	uc003zaa.1	-	1	4875	c.4862G>A	c.(4861-4863)CGG>CAG	p.R1621Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1621	Plectin 27.					cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R1621W(1)		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)			GGTCAGCTTCCGGTTCTCCAC	0.642												
PLEC	5339	broad.mit.edu	37	8	144990983	144990983	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144990983C>T	uc003zaf.1	-	32	13587	c.13417G>A	c.(13417-13419)GTC>ATC	p.V4473I	PLEC_uc003zab.1_Missense_Mutation_p.V4336I|PLEC_uc003zac.1_Missense_Mutation_p.V4340I|PLEC_uc003zad.2_Missense_Mutation_p.V4336I|PLEC_uc003zae.1_Missense_Mutation_p.V4304I|PLEC_uc003zag.1_Missense_Mutation_p.V4314I|PLEC_uc003zah.2_Missense_Mutation_p.V4322I|PLEC_uc003zaj.2_Missense_Mutation_p.V4363I	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4473	Globular 2.|Plectin 30.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCCTTGTTGACGGCGTCGGTG	0.647												
PLEC	5339	broad.mit.edu	37	8	145006333	145006333	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:145006333G>A	uc003zaf.1	-	17	2628	c.2458C>T	c.(2458-2460)CTG>TTG	p.L820L	PLEC_uc003zab.1_Silent_p.L683L|PLEC_uc003zac.1_Silent_p.L687L|PLEC_uc003zad.2_Silent_p.L683L|PLEC_uc003zae.1_Silent_p.L651L|PLEC_uc003zag.1_Silent_p.L661L|PLEC_uc003zah.2_Silent_p.L669L|PLEC_uc003zaj.2_Silent_p.L710L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	820	Spectrin 2.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCCTCCCGCAGCAGCCGGTCC	0.507												
PARP10	84875	broad.mit.edu	37	8	145057410	145057410	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:145057410G>A	uc003zal.3	-	8	2455	c.2347C>T	c.(2347-2349)CGC>TGC	p.R783C	PARP10_uc003zak.3_Missense_Mutation_p.R480C|PARP10_uc011lku.1_Missense_Mutation_p.R795C|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Missense_Mutation_p.R774C	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	783	Myc binding.					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)			ACCAAGTGGCGGGCAGCACGG	0.657												
EXOSC4	54512	broad.mit.edu	37	8	145135191	145135191	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:145135191C>T	uc003zau.2	+	3	535	c.425C>T	c.(424-426)GCC>GTC	p.A142V	GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	exosome component 4	142					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGAATGCAGCCACGCTGGCA	0.602												
HEATR7A	727957	broad.mit.edu	37	8	145245797	145245797	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:145245797G>A	uc003zbk.3	+	8	910	c.673G>A	c.(673-675)GAT>AAT	p.D225N	HEATR7A_uc003zbg.2_Missense_Mutation_p.D225N|HEATR7A_uc003zbh.3_Missense_Mutation_p.D225N|HEATR7A_uc003zbi.3_Missense_Mutation_p.D225N|HEATR7A_uc011lla.1_Missense_Mutation_p.D225N|HEATR7A_uc010mft.2_Missense_Mutation_p.D225N	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	HEAT repeat containing 7A isoform 1	225							binding				0						CAGCGCCTACGATGTTCTCTT	0.612												
ADCK5	203054	broad.mit.edu	37	8	145616432	145616432	+	Silent	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:145616432G>T	uc003zch.2	+	6	696	c.642G>T	c.(640-642)GTG>GTT	p.V214V	ADCK5_uc003zcg.2_RNA|ADCK5_uc003zci.2_5'Flank	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	214	Protein kinase.					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)			TGGCACAGGTGCACAGAGCCA	0.622												
ZNF517	340385	broad.mit.edu	37	8	146032665	146032665	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:146032665C>A	uc003zed.1	+	5	471	c.364C>A	c.(364-366)CTC>ATC	p.L122I	ZNF517_uc010mgd.1_Missense_Mutation_p.L28I|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Missense_Mutation_p.L28I|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GTGGGGGTGCCTCCCCTGGGG	0.677												
KANK1	23189	broad.mit.edu	37	9	742369	742369	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:742369G>A	uc003zgl.1	+	14	4510	c.3861G>A	c.(3859-3861)CTG>CTA	p.L1287L	KANK1_uc003zgn.1_Silent_p.L1287L|KANK1_uc003zgs.1_Silent_p.L1129L|KANK1_uc010mgx.1_Silent_p.L265L|KANK1_uc010mgy.1_Silent_p.L199L|KANK1_uc003zgt.1_Silent_p.L199L	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	1287	ANK 4.				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)		AGCTGCTGCTGGCCCAGCCCG	0.637												
DMRT3	58524	broad.mit.edu	37	9	977137	977137	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:977137C>T	uc003zgw.1	+	1	174	c.136C>T	c.(136-138)CGT>TGT	p.R46C		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	46	DM.				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGGCCACAAGCGTTACTGCCG	0.706												
GLIS3	169792	broad.mit.edu	37	9	3856161	3856161	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:3856161G>A	uc003zhw.1	-	8	2050	c.1856C>T	c.(1855-1857)CCT>CTT	p.P619L	GLIS3_uc003zhx.1_Missense_Mutation_p.P774L|GLIS3_uc010mhf.1_Missense_Mutation_p.P168L|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Missense_Mutation_p.P552L	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	619					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GATGTGGTGAGGAGATGGAGC	0.468												
RLN1	6013	broad.mit.edu	37	9	5339637	5339637	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:5339637C>T	uc003zjb.1	-	1	237	c.110G>A	c.(109-111)CGC>CAC	p.R37H		NM_006911	NP_008842	P04808	REL1_HUMAN	relaxin 1 preproprotein	37					female pregnancy|signal transduction	extracellular region	hormone activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		AACTAATTCGCGGCCGCATAA	0.498												
C9orf150	286343	broad.mit.edu	37	9	12821554	12821554	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:12821554G>A	uc003zkw.2	+	2	1185	c.482G>A	c.(481-483)CGT>CAT	p.R161H		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	hypothetical protein LOC286343	164											0				GBM - Glioblastoma multiforme(1;1.64e-13)		ACCTCCTTACGTGGCAGCTAC	0.542												
CNTLN	54875	broad.mit.edu	37	9	17135073	17135073	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:17135073C>T	uc003zmz.2	+	1	36	c.10C>T	c.(10-12)CGT>TGT	p.R4C	CNTLN_uc003zmx.3_Missense_Mutation_p.R4C|CNTLN_uc003zmy.2_Missense_Mutation_p.R4C|CNTLN_uc003zmw.1_Missense_Mutation_p.R4C	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	4						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CATGGCGGCGCGTTCGCCTCC	0.687												
ADAMTSL1	92949	broad.mit.edu	37	9	18777173	18777173	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:18777173G>A	uc003zne.3	+	19	3073	c.2946G>A	c.(2944-2946)GCG>GCA	p.A982A		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	982						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		AGGTGCTTGCGGGGAGGAAGG	0.667												
IFT74	80173	broad.mit.edu	37	9	26984355	26984355	+	Splice_Site	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:26984355T>C	uc010mja.2	+	5	531	c.404_splice	c.e5+2	p.R135_splice	IFT74_uc010mjb.2_Splice_Site_p.R135_splice|IFT74_uc003zqf.3_Splice_Site_p.R135_splice|IFT74_uc003zqg.3_Splice_Site_p.R135_splice	NM_001099223	NP_001092693	Q96LB3	IFT74_HUMAN	coiled-coil domain containing 2 isoform a							cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				skin(1)	1		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TGAAAAGAGGTGAGTAATAAG	0.259												
UBAP2	55833	broad.mit.edu	37	9	33996302	33996302	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:33996302A>G	uc003ztq.1	-	4	320	c.207T>C	c.(205-207)GAT>GAC	p.D69D	UBAP2_uc011loc.1_Silent_p.D31D|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Intron|UBAP2_uc011log.1_Silent_p.D68D|UBAP2_uc003ztr.2_Intron	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	69	UBA.									ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTATGCATTCATCCTGATTTT	0.348												
DCAF12	25853	broad.mit.edu	37	9	34098435	34098435	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:34098435G>A	uc003ztt.2	-	5	1024	c.682C>T	c.(682-684)CGG>TGG	p.R228W		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	228						centrosome|CUL4 RING ubiquitin ligase complex					0						ACAGGGACCCGTGACACATTG	0.517												
DNAI1	27019	broad.mit.edu	37	9	34491509	34491509	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:34491509C>T	uc003zum.2	+	8	831	c.638C>T	c.(637-639)ACG>ATG	p.T213M		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	213					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GAATGCCAGACGGAGCCTCCT	0.483									Kartagener_syndrome			
GALT	2592	broad.mit.edu	37	9	34648866	34648866	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:34648866T>C	uc003zve.2	+	8	862	c.795T>C	c.(793-795)CCT>CCC	p.P265P	GALT_uc003zvf.2_Silent_p.P156P|GALT_uc003zvg.2_Silent_p.P137P|GALT_uc003zvh.2_Silent_p.P217P|GALT_uc011lop.1_Silent_p.P217P|IL11RA_uc003zvi.2_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	265					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGCGGCTACCTGAGCTGACCC	0.612									Galactosemia			
TLN1	7094	broad.mit.edu	37	9	35719202	35719202	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:35719202G>A	uc003zxt.2	-	16	2119	c.1765C>T	c.(1765-1767)CGT>TGT	p.R589C		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	589					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCACCCCACGGGACATCTCC	0.607												
RNF38	152006	broad.mit.edu	37	9	36357922	36357922	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:36357922G>A	uc003zzh.2	-	5	779	c.588C>T	c.(586-588)GTC>GTT	p.V196V	RNF38_uc003zzi.2_Silent_p.V146V|RNF38_uc003zzj.2_Silent_p.V113V|RNF38_uc003zzk.2_Silent_p.V113V|RNF38_uc003zzl.2_Silent_p.V120V|RNF38_uc003zzm.2_Silent_p.V113V	NM_022781	NP_073618	Q9H0F5	RNF38_HUMAN	ring finger protein 38 isoform 1	196							zinc ion binding			central_nervous_system(1)	1			STAD - Stomach adenocarcinoma(86;0.228)			AAGAAACAGGGACTGTTCCTT	0.403												
MELK	9833	broad.mit.edu	37	9	36671000	36671000	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:36671000G>A	uc003zzn.2	+	16	1649	c.1511G>A	c.(1510-1512)CGC>CAC	p.R504H	MELK_uc011lpm.1_Missense_Mutation_p.R373H|MELK_uc011lpn.1_Missense_Mutation_p.R463H|MELK_uc011lpo.1_Missense_Mutation_p.R310H|MELK_uc010mll.2_Missense_Mutation_p.R472H|MELK_uc011lpp.1_Missense_Mutation_p.R456H|MELK_uc010mlm.2_Missense_Mutation_p.R433H|MELK_uc011lpq.1_Missense_Mutation_p.R310H|MELK_uc011lpr.1_Missense_Mutation_p.R433H|MELK_uc011lps.1_Missense_Mutation_p.R424H	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	504						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TTCAGGTGCCGCTCAGTGGAA	0.488												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478												
TJP2	9414	broad.mit.edu	37	9	71831301	71831301	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:71831301A>C	uc004ahe.2	+	3	361	c.161A>C	c.(160-162)AAC>ACC	p.N54T	TJP2_uc011lrs.1_Missense_Mutation_p.N31T|TJP2_uc004ahb.1_Missense_Mutation_p.N31T|TJP2_uc011lrt.1_Missense_Mutation_p.N31T|TJP2_uc004ahd.2_Missense_Mutation_p.N54T|TJP2_uc004ahf.2_Missense_Mutation_p.N54T|TJP2_uc011lru.1_Missense_Mutation_p.N58T|TJP2_uc011lrv.1_Missense_Mutation_p.N76T	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	54	PDZ 1.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GGCAGAGACAACCCCCACTTT	0.488												
TJP2	9414	broad.mit.edu	37	9	71866280	71866280	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:71866280G>T	uc004ahe.2	+	21	3521	c.3321G>T	c.(3319-3321)AGG>AGT	p.R1107S	TJP2_uc011lrs.1_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Missense_Mutation_p.R1074S|TJP2_uc011lrv.1_Missense_Mutation_p.R1129S|TJP2_uc010mom.1_Intron	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	1107					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						AGAATGCAAGGGTAATTGTTT	0.418												
TRPM6	140803	broad.mit.edu	37	9	77353400	77353400	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:77353400A>C	uc004ajl.1	-	36	5937	c.5699T>G	c.(5698-5700)CTG>CGG	p.L1900R	TRPM6_uc004ajk.1_Missense_Mutation_p.L1895R|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.L851R|TRPM6_uc010mpd.1_Missense_Mutation_p.L733R|TRPM6_uc010mpe.1_Missense_Mutation_p.L447R|TRPM6_uc004ajj.1_Missense_Mutation_p.L856R	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1900	Alpha-type protein kinase.|Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						CAGCTCCTCCAGGGTGTTGGT	0.468												
PRUNE2	158471	broad.mit.edu	37	9	79320305	79320305	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:79320305G>A	uc010mpk.2	-	8	7009	c.6885C>T	c.(6883-6885)AGC>AGT	p.S2295S	PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2295					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						AGGCAGCTTCGCTTATATCCA	0.468												
RMI1	80010	broad.mit.edu	37	9	86617331	86617331	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:86617331G>A	uc004anq.3	+	3	1838	c.1430G>A	c.(1429-1431)AGC>AAC	p.S477N	RMI1_uc004anr.3_Missense_Mutation_p.S477N|RMI1_uc004anp.3_Missense_Mutation_p.S477N|RMI1_uc004ans.3_Missense_Mutation_p.S477N	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	RMI1, RecQ mediated genome instability 1,	477					DNA replication	nucleus					0						TCAGAGAATAGCATTAATCTT	0.338												
AGTPBP1	23287	broad.mit.edu	37	9	88257780	88257780	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:88257780A>G	uc011ltd.1	-	12	1297	c.1264T>C	c.(1264-1266)TAT>CAT	p.Y422H	AGTPBP1_uc004aod.3_Missense_Mutation_p.Y48H|AGTPBP1_uc011ltc.1_Missense_Mutation_p.Y320H|AGTPBP1_uc010mqc.2_Missense_Mutation_p.Y382H|AGTPBP1_uc011lte.1_Missense_Mutation_p.Y434H	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	422					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						AGGTGTTCATACATTTTTAGA	0.294												
GAS1	2619	broad.mit.edu	37	9	89560899	89560899	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:89560899C>T	uc004aox.3	-	1	1206	c.796G>A	c.(796-798)GAT>AAT	p.D266N	uc004aoy.2_5'Flank	NM_002048	NP_002039	P54826	GAS1_HUMAN	growth arrest-specific 1 precursor	266					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane					0						TAGTCCTCATCGTAGTAGTCG	0.731												
CDK20	23552	broad.mit.edu	37	9	90589374	90589374	+	Translation_Start_Site	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:90589374G>A	uc004apr.2	-	1	294	c.-12C>T	c.(-14--10)CACGA>CATGA		CDK20_uc004aps.2_Translation_Start_Site|CDK20_uc004apt.2_Translation_Start_Site|CDK20_uc004apu.2_Translation_Start_Site	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3						cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						CGCTGCAGTCGTGGGCCTGTG	0.652												
ROR2	4920	broad.mit.edu	37	9	94495526	94495526	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:94495526C>T	uc004arj.1	-	6	1014	c.815G>A	c.(814-816)CGC>CAC	p.R272H	ROR2_uc004ari.1_Missense_Mutation_p.R132H|ROR2_uc004ark.2_Missense_Mutation_p.R272H	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	272	FZ.|Extracellular (Potential).				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						CGGGTTGGAGCGGGCGATGGT	0.677												
FGD3	89846	broad.mit.edu	37	9	95784613	95784613	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:95784613C>T	uc004asw.2	+	14	2127	c.1499C>T	c.(1498-1500)ACG>ATG	p.T500M	FGD3_uc004asx.2_Missense_Mutation_p.T500M|FGD3_uc004asz.2_Missense_Mutation_p.T500M|FGD3_uc011luc.1_Missense_Mutation_p.T103M	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	500					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						TTCTAGATCACGAGCACCAGC	0.637												
NINJ1	4814	broad.mit.edu	37	9	95888893	95888893	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:95888893G>A	uc004atg.3	-	2	174	c.103C>T	c.(103-105)CCC>TCC	p.P35S	NINJ1_uc004ath.3_5'UTR	NM_004148	NP_004139	Q92982	NINJ1_HUMAN	ninjurin 1	35	Extracellular (Potential).				cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)	1						ACGTTGATGGGCCCGTGCCTC	0.682												
PTCH1	5727	broad.mit.edu	37	9	98215807	98215807	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:98215807C>T	uc004avk.3	-	20	3590	c.3402G>A	c.(3400-3402)CTG>CTA	p.L1134L	PTCH1_uc010mro.2_Silent_p.L983L|PTCH1_uc010mrp.2_Silent_p.L983L|PTCH1_uc010mrq.2_Silent_p.L983L|PTCH1_uc004avl.3_Silent_p.L983L|PTCH1_uc010mrr.2_Silent_p.L1068L|PTCH1_uc004avm.3_Silent_p.L1133L	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	1134	Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCACTCCCAGCAGAGTGGACA	0.547									Basal_Cell_Nevus_syndrome			
PTCH1	5727	broad.mit.edu	37	9	98239083	98239083	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:98239083G>A	uc004avk.3	-	11	1748	c.1560C>T	c.(1558-1560)CAC>CAT	p.H520H	PTCH1_uc010mro.2_Silent_p.H369H|PTCH1_uc010mrp.2_Silent_p.H369H|PTCH1_uc010mrq.2_Silent_p.H369H|PTCH1_uc004avl.3_Silent_p.H369H|PTCH1_uc010mrr.2_Silent_p.H454H|PTCH1_uc004avm.3_Silent_p.H519H|PTCH1_uc010mrs.1_Silent_p.H188H	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	520	SSD.|Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.H520fs*4(1)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACTGAAGGCGTGGGCCAGAA	0.443									Basal_Cell_Nevus_syndrome			
ZNF782	158431	broad.mit.edu	37	9	99607190	99607190	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:99607190T>C	uc004awp.1	-	4	405	c.124A>G	c.(124-126)AGC>GGC	p.S42G	ZNF782_uc011lup.1_Intron	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				ACGAGGTGGCTGTAGTTCTCC	0.542												
TDRD7	23424	broad.mit.edu	37	9	100249529	100249529	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:100249529C>T	uc004axj.2	+	16	3216	c.2991C>T	c.(2989-2991)CAC>CAT	p.H997H	TDRD7_uc011lux.1_Silent_p.H923H|TDRD7_uc011luy.1_Silent_p.H317H	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	997	Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				ATGGCAAACACGAATTAGTCA	0.428												
ANKS6	203286	broad.mit.edu	37	9	101540525	101540525	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:101540525G>T	uc004ayu.2	-	7	1571	c.1550C>A	c.(1549-1551)CCT>CAT	p.P517H	ANKS6_uc004ayt.2_Missense_Mutation_p.P216H|ANKS6_uc004ayv.1_5'Flank|ANKS6_uc004ayw.1_Missense_Mutation_p.P99H|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	517										ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				TTTGGTCACAGGGGCCGCATC	0.557												
INVS	27130	broad.mit.edu	37	9	103002432	103002432	+	Missense_Mutation	SNP	G	G	A	rs150883233	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:103002432G>A	uc004bap.1	+	6	918	c.706G>A	c.(706-708)GTG>ATG	p.V236M	INVS_uc010mta.1_Missense_Mutation_p.V140M|INVS_uc011lve.1_Missense_Mutation_p.V140M|INVS_uc004bao.1_Missense_Mutation_p.V236M|INVS_uc004baq.1_Missense_Mutation_p.V140M|INVS_uc004bar.1_Missense_Mutation_p.V140M|INVS_uc010mtb.1_Translation_Start_Site	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	236	ANK 7.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)				GAATGTGACCGTGGTTGATGT	0.448												
KLF4	9314	broad.mit.edu	37	9	110249393	110249393	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:110249393C>T	uc004bdh.2	-	3	1876	c.1255G>A	c.(1255-1257)GCC>ACC	p.A419T	KLF4_uc004bdf.1_Missense_Mutation_p.A344T|KLF4_uc004bdg.2_Missense_Mutation_p.A394T	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	428					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(2)|lung(1)	3						GTGTGGGTGGCGGTCCTTTTC	0.592												
C9orf4	23732	broad.mit.edu	37	9	111899876	111899876	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:111899876C>T	uc004bdw.1	-	5	894	c.894G>A	c.(892-894)CCG>CCA	p.P298P		NM_014334	NP_055149	Q9P0K9	CI004_HUMAN	hypothetical protein LOC23732	298						integral to membrane					0						CTGAAGCCGGCGGTGAGTCTA	0.388												
PTPN3	5774	broad.mit.edu	37	9	112141873	112141873	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:112141873T>C	uc004bed.2	-	26	2817	c.2705A>G	c.(2704-2706)TAT>TGT	p.Y902C	PTPN3_uc004beb.2_Missense_Mutation_p.Y771C|PTPN3_uc004bec.2_Missense_Mutation_p.Y726C|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.Y857C|PTPN3_uc011lwh.1_Missense_Mutation_p.Y748C|PTPN3_uc011lwd.1_Missense_Mutation_p.Y370C|PTPN3_uc011lwe.1_Missense_Mutation_p.Y615C|PTPN3_uc011lwf.1_Missense_Mutation_p.Y570C	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	902					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						ACCTTCTTCATACACACGAAG	0.443												
ZNF483	158399	broad.mit.edu	37	9	114304406	114304406	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:114304406A>G	uc004bff.2	+	6	1415	c.1191A>G	c.(1189-1191)ATA>ATG	p.I397M	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	397					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						AGTGTGGGATAATCTTTATTA	0.403												
SLC46A2	57864	broad.mit.edu	37	9	115651926	115651926	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:115651926G>A	uc004bgk.2	-	1	1268	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	346	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						GTGGTGTCCCGAAAGCAGCGG	0.522												
AKNA	80709	broad.mit.edu	37	9	117104360	117104360	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:117104360G>A	uc004biq.3	-	19	3938	c.3803C>T	c.(3802-3804)ACC>ATC	p.T1268I	AKNA_uc004bin.3_Missense_Mutation_p.T515I|AKNA_uc004bio.3_Missense_Mutation_p.T728I|AKNA_uc004bip.3_Missense_Mutation_p.T1187I|AKNA_uc004bir.3_Missense_Mutation_p.T1268I|AKNA_uc004bis.3_Missense_Mutation_p.T1268I|AKNA_uc010mve.2_Missense_Mutation_p.T1149I	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6						ACACTGAAGGGTATCAGCGGG	0.547												
TRIM32	22954	broad.mit.edu	37	9	119460614	119460614	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:119460614A>G	uc004bjx.2	+	2	751	c.593A>G	c.(592-594)GAG>GGG	p.E198G	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.E198G	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	198					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3						GTCCAGGATGAGCTGGCTCGC	0.532									Bardet-Biedl_syndrome			
CEP110	11064	broad.mit.edu	37	9	123907626	123907626	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:123907626T>C	uc004bkx.1	+	20	3304	c.3273T>C	c.(3271-3273)ATT>ATC	p.I1091I	CEP110_uc004bky.1_Silent_p.I695I|CEP110_uc004bla.1_Silent_p.I539I|CEP110_uc010mvo.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	1091	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						GGACAGAGATTGCAAGGCTGC	0.403												
PTGS1	5742	broad.mit.edu	37	9	125141066	125141066	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:125141066T>G	uc004bmg.1	+	5	500	c.365T>G	c.(364-366)CTT>CGT	p.L122R	PTGS1_uc011lys.1_Missense_Mutation_p.L97R|PTGS1_uc010mwb.1_Missense_Mutation_p.L13R|PTGS1_uc004bmf.1_Missense_Mutation_p.L122R|PTGS1_uc004bmh.1_Missense_Mutation_p.L13R|PTGS1_uc011lyt.1_Missense_Mutation_p.L13R	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	122					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CGCTCCAACCTTATCCCCAGT	0.532												
PTGS1	5742	broad.mit.edu	37	9	125154761	125154761	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:125154761C>T	uc004bmg.1	+	11	1873	c.1738C>T	c.(1738-1740)CGT>TGT	p.R580C	PTGS1_uc011lys.1_Missense_Mutation_p.R518C|PTGS1_uc010mwb.1_Missense_Mutation_p.R434C|PTGS1_uc004bmf.1_Missense_Mutation_p.R543C|PTGS1_uc004bmh.1_Missense_Mutation_p.R471C|PTGS1_uc011lyt.1_Missense_Mutation_p.R471C	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	580					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CGTTTCCTTCCGTGTGCCGGA	0.572												
PDCL	5082	broad.mit.edu	37	9	125582522	125582522	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:125582522G>A	uc004bmz.1	-	4	844	c.748C>T	c.(748-750)CGT>TGT	p.R250C	uc004bmy.2_5'Flank|PDCL_uc004bna.2_3'UTR	NM_005388	NP_005379	Q13371	PHLP_HUMAN	phosducin-like	250					signal transduction|visual perception						0						TCAGTAACACGAACAAAATTG	0.493												
ZBTB6	10773	broad.mit.edu	37	9	125673316	125673316	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:125673316G>A	uc004bnh.2	-	2	1125	c.1036C>T	c.(1036-1038)CGA>TGA	p.R346*		NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	346	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATGTGTCCTCGGATGTGTCGG	0.428												
ZNF79	7633	broad.mit.edu	37	9	130191185	130191185	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:130191185A>G	uc004bqw.3	+	2	505	c.91A>G	c.(91-93)ACA>GCA	p.T31A	ZNF79_uc011maf.1_Missense_Mutation_p.T7A|ZNF79_uc011mag.1_Missense_Mutation_p.T7A	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TGGTCTCCTCACAGCTGGGCC	0.468												
ZNF79	7633	broad.mit.edu	37	9	130207427	130207427	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:130207427G>A	uc004bqw.3	+	5	1862	c.1448G>A	c.(1447-1449)CGG>CAG	p.R483Q	ZNF79_uc011maf.1_Missense_Mutation_p.R459Q|ZNF79_uc011mag.1_Missense_Mutation_p.R459Q	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	483	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						AAGGCCTTCCGGTGCAGCTCT	0.537												
ST6GALNAC6	30815	broad.mit.edu	37	9	130653012	130653012	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:130653012G>A	uc004bso.1	-	5	727	c.608C>T	c.(607-609)GCG>GTG	p.A203V	ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.A169V|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.A203V|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.A169V|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.A169V|ST6GALNAC6_uc010mxp.1_RNA	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN	sialytransferase 7F	203	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane|plasma membrane					0						CACCAGGCCCGCTCGCTGGAT	0.622												
SET	6418	broad.mit.edu	37	9	131455933	131455933	+	Missense_Mutation	SNP	C	C	T	rs142648600	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:131455933C>T	uc004bvt.3	+	6	789	c.548C>T	c.(547-549)TCG>TTG	p.S183L	SET_uc004bvu.3_Missense_Mutation_p.S170L|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.S159L	NM_001122821	NP_001116293	Q01105	SET_HUMAN	SET translocation (myeloid leukemia-associated)	183					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		ACGAAACGTTCGAGTCAAACG	0.418			T	NUP214	AML							
PKN3	29941	broad.mit.edu	37	9	131475348	131475348	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:131475348C>A	uc004bvw.2	+	7	1246	c.853C>A	c.(853-855)CTC>ATC	p.L285I	PKN3_uc010myh.2_Missense_Mutation_p.L285I|PKN3_uc011mbk.1_5'UTR	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	285					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						GCAGGTCCGCCTCCTGGGCTG	0.677												
LRRC8A	56262	broad.mit.edu	37	9	131670480	131670480	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:131670480G>A	uc004bwl.3	+	3	1291	c.1037G>A	c.(1036-1038)CGC>CAC	p.R346H	LRRC8A_uc010myp.2_Missense_Mutation_p.R346H|LRRC8A_uc010myq.2_Missense_Mutation_p.R346H	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	346					pre-B cell differentiation	integral to membrane					0						ATGCTACGGCGCTCCCTCAAG	0.542												
ABL1	25	broad.mit.edu	37	9	133755916	133755916	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:133755916G>A	uc004bzw.2	+	10	1546	c.1543G>A	c.(1543-1545)GTC>ATC	p.V515I	ABL1_uc004bzv.2_Missense_Mutation_p.V534I	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	515					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GAAACAAGGCGTCCGTGGGGC	0.562			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL							
LAMC3	10319	broad.mit.edu	37	9	133901842	133901842	+	Missense_Mutation	SNP	G	G	A	rs141325432		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:133901842G>A	uc004caa.1	+	2	642	c.544G>A	c.(544-546)GGC>AGC	p.G182S		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	182	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCTGCGCCCCGGCGAGGACGA	0.706												
LAMC3	10319	broad.mit.edu	37	9	133928327	133928327	+	Silent	SNP	C	C	T	rs142915387		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:133928327C>T	uc004caa.1	+	11	2012	c.1914C>T	c.(1912-1914)CGC>CGT	p.R638R		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	638	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCCGCCTCCGCGTCAGTCCCG	0.682											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RXRA	6256	broad.mit.edu	37	9	137313626	137313626	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:137313626C>T	uc004cfb.2	+	6	1047	c.885C>T	c.(883-885)GAC>GAT	p.D295D	RXRA_uc004cfc.1_Silent_p.D198D|RXRA_uc004cfd.1_Silent_p.D66D	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	295	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	TGCCCCTGGACGACCAGGTCA	0.627												
COL5A1	1289	broad.mit.edu	37	9	137622298	137622298	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:137622298G>A	uc004cfe.2	+	7	1523	c.1141G>A	c.(1141-1143)GCC>ACC	p.A381T		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	381	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CACCAGCACCGCCGACACCTC	0.622												
KIAA0649	9858	broad.mit.edu	37	9	138378033	138378033	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:138378033G>A	uc004cfr.1	+	4	2226	c.1677G>A	c.(1675-1677)CCG>CCA	p.P559P		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	559						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		AGAGCTGCCCGCAGGCTGCCC	0.617												
NOTCH1	4851	broad.mit.edu	37	9	139393380	139393380	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:139393380C>A	uc004chz.2	-	33	6151	c.6151G>T	c.(6151-6153)GGG>TGG	p.G2051W		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	2051	Cytoplasmic (Potential).|ANK 4.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTGTTAGCCCCGTTCTTCAGG	0.592			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
C9orf86	55684	broad.mit.edu	37	9	139726288	139726288	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:139726288C>T	uc004cji.1	+	6	842	c.574C>T	c.(574-576)CGT>TGT	p.R192C	C9orf86_uc004cjm.2_Missense_Mutation_p.R192C|C9orf86_uc004cjh.2_Missense_Mutation_p.R192C|C9orf86_uc004cjj.1_Missense_Mutation_p.R192C|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.R192C|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.R77C	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	192	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		GGACGACGTGCGTGACTTCAT	0.672												
C9orf172	389813	broad.mit.edu	37	9	139741054	139741054	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:139741054G>A	uc011meh.1	+	1	2188	c.2188G>A	c.(2188-2190)GGC>AGC	p.G730S	PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	730											0						CCGCGACAGCGGCCCGGTGCA	0.726												
TUBB2C	10383	broad.mit.edu	37	9	140137440	140137440	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:140137440T>C	uc004cmh.1	+	4	872	c.770T>C	c.(769-771)ATG>ACG	p.M257T	TUBB2C_uc004cmg.1_Missense_Mutation_p.M111T	NM_006088	NP_006079	P68371	TBB2C_HUMAN	tubulin, beta, 2	257					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCTGTGAACATGGTCCCGTTT	0.652												
TUBB2C	10383	broad.mit.edu	37	9	140137949	140137949	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:140137949G>A	uc004cmh.1	+	4	1381	c.1279G>A	c.(1279-1281)GAT>AAT	p.D427N	TUBB2C_uc004cmg.1_Missense_Mutation_p.D281N	NM_006088	NP_006079	P68371	TBB2C_HUMAN	tubulin, beta, 2	427					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGTACCAGGATGCCACAGC	0.602												
ZBED1	9189	broad.mit.edu	37	X	2408490	2408490	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:2408490C>T	uc004cqg.2	-	2	472	c.271G>A	c.(271-273)GCC>ACC	p.A91T	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.A91T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	91						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGGCGGTGGCGAAGGCTTCA	0.627												
ARSE	415	broad.mit.edu	37	X	2856237	2856237	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:2856237G>A	uc004crc.3	-	9	1438	c.1188C>T	c.(1186-1188)CCC>CCT	p.P396P	ARSE_uc011mhi.1_Silent_p.P342P|ARSE_uc011mhh.1_Silent_p.P421P	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	396					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		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)				GGAGCACCCCGGGCCAGCGGA	0.647												
MXRA5	25878	broad.mit.edu	37	X	3261813	3261813	+	Missense_Mutation	SNP	G	G	A	rs146747759	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:3261813G>A	uc004crg.3	-	2	219	c.62C>T	c.(61-63)CCG>CTG	p.P21L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	21						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGCCACTCGCGGATGGCCCCA	0.657												
NLGN4X	57502	broad.mit.edu	37	X	5827119	5827119	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:5827119A>G	uc010ndh.2	-	4	1288	c.787T>C	c.(787-789)TTG>CTG	p.L263L	NLGN4X_uc004crp.2_Silent_p.L283L|NLGN4X_uc004crq.2_Silent_p.L263L|NLGN4X_uc010ndi.2_Silent_p.L300L|NLGN4X_uc004crr.2_Silent_p.L263L|NLGN4X_uc010ndj.2_Silent_p.L263L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	263	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						GACAGGGTCAACAGGCTGACA	0.562												
KAL1	3730	broad.mit.edu	37	X	8553428	8553428	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:8553428C>T	uc004csf.2	-	6	886	c.736G>A	c.(736-738)GAG>AAG	p.E246K		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	246	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						TGAACTCGCTCGTCTGTGGTC	0.488												
WWC3	55841	broad.mit.edu	37	X	10077879	10077879	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:10077879G>A	uc004csx.3	+	9	991	c.793G>A	c.(793-795)GAG>AAG	p.E265K	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	265	Potential.									ovary(4)	4						AAGCACGGCCGAGGCTGACAG	0.622												
ARHGAP6	395	broad.mit.edu	37	X	11187743	11187743	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:11187743T>C	uc004cup.1	-	9	2564	c.1691A>G	c.(1690-1692)CAC>CGC	p.H564R	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.H564R|ARHGAP6_uc004cum.1_Missense_Mutation_p.H361R|ARHGAP6_uc004cun.1_Missense_Mutation_p.H384R|ARHGAP6_uc010neb.1_Missense_Mutation_p.H386R|ARHGAP6_uc011mif.1_Missense_Mutation_p.H361R	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	564	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						CTTCTGCTTGTGCAGCAGGTT	0.438												
PIGA	5277	broad.mit.edu	37	X	15349840	15349840	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:15349840G>A	uc004cwr.2	-	2	313	c.213C>T	c.(211-213)ACC>ACT	p.T71T	PIGA_uc004cwq.2_5'UTR|PIGA_uc010nev.2_Silent_p.T71T|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Silent_p.T71T	NM_002641	NP_002632	P37287	PIGA_HUMAN	phosphatidylinositol	71	Cytoplasmic (Potential).				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding				0	Hepatocellular(33;0.183)					CATAAGCATGGGTGACAATTA	0.448												
AP1S2	8905	broad.mit.edu	37	X	15845479	15845479	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:15845479C>T	uc004cxi.2	-	5	733	c.443G>A	c.(442-444)CGT>CAT	p.R148H	AP1S2_uc004cxh.2_3'UTR|AP1S2_uc010nex.2_Missense_Mutation_p.R193H	NM_003916	NP_003907	P56377	AP1S2_HUMAN	adaptor-related protein complex 1 sigma 2	148					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity				0	Hepatocellular(33;0.183)					AAGAACACTACGTGGGGTTTC	0.453												
BEND2	139105	broad.mit.edu	37	X	18221769	18221769	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:18221769A>G	uc004cyj.3	-	5	913	c.759T>C	c.(757-759)GCT>GCC	p.A253A	BEND2_uc010nfb.2_Silent_p.A253A	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	253										ovary(3)|kidney(1)|central_nervous_system(1)	5						CTGCTGTAGTAGCATTGGCAA	0.448												
PHKA2	5256	broad.mit.edu	37	X	18923920	18923920	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:18923920A>G	uc004cyv.3	-	26	3294	c.2864T>C	c.(2863-2865)CTG>CCG	p.L955P	PHKA2_uc004cyu.3_Missense_Mutation_p.L253P|PHKA2_uc010nfe.1_Missense_Mutation_p.L5P|PHKA2_uc010nff.1_RNA	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	955					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)					AATATGGTGCAGGAGATTTTT	0.438												
GPR64	10149	broad.mit.edu	37	X	19028804	19028804	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:19028804C>T	uc004cyx.2	-	17	1356	c.1192G>A	c.(1192-1194)GCA>ACA	p.A398T	GPR64_uc004cyy.2_Missense_Mutation_p.A395T|GPR64_uc004cyz.2_Missense_Mutation_p.A384T|GPR64_uc004czb.2_Missense_Mutation_p.A398T|GPR64_uc004czc.2_Missense_Mutation_p.A382T|GPR64_uc004czd.2_Missense_Mutation_p.A374T|GPR64_uc004cze.2_Missense_Mutation_p.A368T|GPR64_uc004czf.2_Missense_Mutation_p.A360T|GPR64_uc004cza.2_Missense_Mutation_p.A376T|GPR64_uc004cyw.2_Missense_Mutation_p.A382T|GPR64_uc010nfj.2_Missense_Mutation_p.A368T	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	398	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					ATTTCTCCTGCGAGGTTAGGC	0.517												
YY2	404281	broad.mit.edu	37	X	21875040	21875040	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:21875040C>T	uc011mjp.1	+	1	438	c.438C>T	c.(436-438)AGC>AGT	p.S146S	MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Silent_p.S364S|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						aaaagcccagcGGCAAGAGTG	0.512												
YY2	404281	broad.mit.edu	37	X	21875629	21875629	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:21875629T>C	uc011mjp.1	+	1	1027	c.1027T>C	c.(1027-1029)TGC>CGC	p.C343R	MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.C561R|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	343	Mediates transcriptional repression.|C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GCCCTTCGTGTGCCCCTTCGA	0.498												
KLHL15	80311	broad.mit.edu	37	X	24006748	24006748	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:24006748G>A	uc004dba.3	-	4	1361	c.1105C>T	c.(1105-1107)CGC>TGC	p.R369C		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	369	Kelch 1.									ovary(1)|breast(1)	2						AATTCAGAGCGTGGTACAGAC	0.468												
FAM48B2	170067	broad.mit.edu	37	X	24331377	24331377	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:24331377G>A	uc011mjw.1	-	1	56	c.56C>T	c.(55-57)GCC>GTC	p.A19V		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	family with sequence similarity 48, member B2	19											0						TCTCTGTTGGGCAATTTCAGT	0.443												
MAGEB1	4112	broad.mit.edu	37	X	30269562	30269562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:30269562C>T	uc004dcc.2	+	4	1272	c.952C>T	c.(952-954)CGA>TGA	p.R318*	MAGEB1_uc004dcd.2_Nonsense_Mutation_p.R318*|MAGEB1_uc004dce.2_Nonsense_Mutation_p.R318*	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	318											0						AGCCCAAGTCCGATCCAGTGT	0.542												
DMD	1756	broad.mit.edu	37	X	31198593	31198593	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:31198593C>A	uc004dda.1	-	69	10224	c.9980G>T	c.(9979-9981)AGG>ATG	p.R3327M	DMD_uc004dcq.1_Missense_Mutation_p.R598M|DMD_uc004dcr.1_Missense_Mutation_p.R867M|DMD_uc004dcs.1_Missense_Mutation_p.R867M|DMD_uc004dct.1_Missense_Mutation_p.R867M|DMD_uc004dcu.1_Missense_Mutation_p.R867M|DMD_uc004dcv.1_Missense_Mutation_p.R867M|DMD_uc004dcw.2_Missense_Mutation_p.R1983M|DMD_uc004dcx.2_Missense_Mutation_p.R1986M|DMD_uc004dcz.2_Missense_Mutation_p.R3204M|DMD_uc004dcy.1_Missense_Mutation_p.R3323M|DMD_uc004ddb.1_Missense_Mutation_p.R3319M|DMD_uc004dcm.1_Missense_Mutation_p.R259M|DMD_uc004dcn.1_Missense_Mutation_p.R259M|DMD_uc004dco.1_Missense_Mutation_p.R259M|DMD_uc004dcp.1_Missense_Mutation_p.R259M|DMD_uc011mkb.1_Missense_Mutation_p.R259M|DMD_uc010ngm.2_Missense_Mutation_p.R259M	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3327	Interaction with SYNM (By similarity).|ZZ-type.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTAGACTCCTGTACCTGAT	0.368												
FAM47B	170062	broad.mit.edu	37	X	34962518	34962518	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:34962518C>T	uc004ddi.1	+	1	1588	c.1570C>T	c.(1570-1572)CGG>TGG	p.R524W		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	524										ovary(3)|breast(1)	4						CGAATTCTTACGGATAAAATA	0.493												
FAM47C	442444	broad.mit.edu	37	X	37027784	37027784	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:37027784G>A	uc004ddl.1	+	1	1315	c.1301G>A	c.(1300-1302)CGC>CAC	p.R434H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	434										ovary(3)	3						CCCAAGACTCGCGGATCTCAT	0.617												
USP9X	8239	broad.mit.edu	37	X	41060361	41060361	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:41060361G>A	uc004dfb.2	+	31	5285	c.4652G>A	c.(4651-4653)CGC>CAC	p.R1551H	USP9X_uc004dfc.2_Missense_Mutation_p.R1551H	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1551					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						GTTGGACCCCGCCCACCCAAA	0.473												
DDX3X	1654	broad.mit.edu	37	X	41202520	41202520	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:41202520C>T	uc004dfe.2	+	7	1450	c.595C>T	c.(595-597)CGT>TGT	p.R199C	DDX3X_uc010nhf.1_Missense_Mutation_p.R183C|DDX3X_uc004dff.2_Missense_Mutation_p.R199C|DDX3X_uc011mkq.1_Missense_Mutation_p.R183C|DDX3X_uc011mkr.1_Missense_Mutation_p.R199C|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	199	Q motif.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TGAGCTTACTCGTTATACTCG	0.398										HNSCC(61;0.18)		
KDM6A	7403	broad.mit.edu	37	X	44879906	44879906	+	Silent	SNP	A	A	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:44879906A>C	uc004dge.3	+	6	870	c.495A>C	c.(493-495)CGA>CGC	p.R165R	KDM6A_uc010nhk.2_Silent_p.R165R|KDM6A_uc011mkz.1_Silent_p.R165R|KDM6A_uc011mla.1_Silent_p.R165R|KDM6A_uc011mlb.1_Silent_p.R165R|KDM6A_uc011mlc.1_Intron	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	165					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(4)|p.?(1)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GCTTTTGTCGAGCCAAGGAAA	0.363			D|N|F|S		renal|oesophageal SCC|MM							
RBM10	8241	broad.mit.edu	37	X	47028858	47028858	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:47028858G>T	uc004dhf.2	+	3	541	c.162G>T	c.(160-162)AAG>AAT	p.K54N	RBM10_uc004dhe.1_Missense_Mutation_p.S52I|RBM10_uc004dhg.2_Missense_Mutation_p.K54N|RBM10_uc004dhh.2_Missense_Mutation_p.K54N|RBM10_uc010nhq.2_Missense_Mutation_p.K54N|RBM10_uc004dhi.2_Missense_Mutation_p.K119N	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	54					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						AGGAGGGCAAGCATGACTATG	0.637												
ZNF41	7592	broad.mit.edu	37	X	47307606	47307606	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:47307606T>G	uc004dhs.3	-	4	1756	c.1689A>C	c.(1687-1689)AAA>AAC	p.K563N	ZNF41_uc004dhu.3_Missense_Mutation_p.K555N|ZNF41_uc004dht.3_Missense_Mutation_p.K435N|ZNF41_uc004dhv.3_Missense_Mutation_p.K531N|ZNF41_uc004dhw.3_Missense_Mutation_p.K523N|ZNF41_uc004dhy.3_Missense_Mutation_p.K521N|ZNF41_uc004dhx.3_Missense_Mutation_p.K521N|ZNF41_uc011mlm.1_Missense_Mutation_p.K435N	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	563						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)				ACATATAGGGTTTTTCCCCAG	0.418												
KCND1	3750	broad.mit.edu	37	X	48826003	48826003	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:48826003G>A	uc004dlx.1	-	1	2249	c.676C>T	c.(676-678)CGC>TGC	p.R226C	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	226						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						TGTGGGAAGCGTTCGCCACAG	0.607												
CACNA1F	778	broad.mit.edu	37	X	49086760	49086760	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:49086760C>T	uc004dnb.2	-	6	801	c.739G>A	c.(739-741)GTC>ATC	p.V247I	CACNA1F_uc010nip.2_Missense_Mutation_p.V247I	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	247	I.|Helical; Name=S5 of repeat I; (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	ATGATGATGACGAAGAGCACG	0.567												
PPP1R3F	89801	broad.mit.edu	37	X	49142794	49142794	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:49142794G>A	uc004dnh.1	+	4	1658	c.1642G>A	c.(1642-1644)GCC>ACC	p.A548T	PPP1R3F_uc011mnd.1_Missense_Mutation_p.A219T|PPP1R3F_uc004dni.2_Missense_Mutation_p.A202T|PPP1R3F_uc004dnj.1_Missense_Mutation_p.A202T	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	548	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					CCTGAACAGCGCCCTGGCTGA	0.637												
SHROOM4	57477	broad.mit.edu	37	X	50350731	50350731	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:50350731C>T	uc004dpe.2	-	6	3437	c.3411G>A	c.(3409-3411)GAG>GAA	p.E1137E	SHROOM4_uc004dpd.3_RNA	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1137	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					cttcttcttcctcctcctcct	0.219												
SHROOM4	57477	broad.mit.edu	37	X	50377272	50377272	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:50377272C>T	uc004dpe.2	-	4	1827	c.1801G>A	c.(1801-1803)GCC>ACC	p.A601T	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.A485T	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	601					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					TGGAGCTGGGCCTTCCTCCTC	0.572												
NUDT11	55190	broad.mit.edu	37	X	51239179	51239179	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:51239179G>A	uc010njt.2	-	1	281	c.118C>T	c.(118-120)CGG>TGG	p.R40W		NM_018159	NP_060629	Q96G61	NUD11_HUMAN	nudix-type motif 11	40	Nudix hydrolase.	Substrate (By similarity).				cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding				0	Ovarian(276;0.236)					TCCGGGTACCGGCTGCTACTC	0.692										HNSCC(48;0.14)		
HUWE1	10075	broad.mit.edu	37	X	53575177	53575177	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:53575177G>A	uc004dsp.2	-	68	10495	c.10093C>T	c.(10093-10095)CGG>TGG	p.R3365W	HUWE1_uc004dsn.2_Missense_Mutation_p.R2173W	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3365					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						CCCCTTTCCCGATCACTCTCA	0.512												
FAM120C	54954	broad.mit.edu	37	X	54209078	54209078	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:54209078C>A	uc004dsz.3	-	1	637	c.554G>T	c.(553-555)CGT>CTT	p.R185L	FAM120C_uc011moh.1_Missense_Mutation_p.R185L|FAM120C_uc004dta.2_Missense_Mutation_p.R185L	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	185										ovary(1)|central_nervous_system(1)	2						CTGGCACCGACGGCCCCACTC	0.721												
USP51	158880	broad.mit.edu	37	X	55514297	55514297	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:55514297G>A	uc004dun.1	-	2	1155	c.1076C>T	c.(1075-1077)ACT>ATT	p.T359I	USP51_uc011moo.1_Missense_Mutation_p.T63I	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	359					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						CAGGCCTACAGTATAGACTGA	0.403												
FAM123B	139285	broad.mit.edu	37	X	63412443	63412443	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:63412443T>A	uc004dvo.2	-	2	997	c.724A>T	c.(724-726)ACA>TCA	p.T242S		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	242					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						GGTTCTGGTGTTGGAGAAACT	0.542												
PJA1	64219	broad.mit.edu	37	X	68382056	68382056	+	Silent	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:68382056T>C	uc004dxh.2	-	2	1312	c.1026A>G	c.(1024-1026)CGA>CGG	p.R342R	PJA1_uc011mpi.1_Silent_p.R60R|PJA1_uc004dxg.2_Silent_p.R154R|PJA1_uc004dxi.2_Silent_p.R287R	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	342	Poly-Arg.						zinc ion binding				0						CCATGGTGCGTCGTCGTCTCG	0.532												
TAF1	6872	broad.mit.edu	37	X	70604865	70604865	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:70604865T>A	uc004dzu.3	+	14	2240	c.2189T>A	c.(2188-2190)TTC>TAC	p.F730Y	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.F751Y	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	730					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				ACATCTCCTTTCCTGGGTTCT	0.413												
TAF1	6872	broad.mit.edu	37	X	70608209	70608209	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:70608209C>T	uc004dzu.3	+	16	2598	c.2547C>T	c.(2545-2547)TGC>TGT	p.C849C	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.C870C|TAF1_uc004dzv.3_Silent_p.C23C	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	849					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				TAAAGCTCTGCGCTGACTTCA	0.418												
RLIM	51132	broad.mit.edu	37	X	73815739	73815739	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:73815739C>T	uc004ebu.2	-	3	364	c.74G>A	c.(73-75)CGA>CAA	p.R25Q	RLIM_uc004ebw.2_Missense_Mutation_p.R25Q	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	25					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TCGATCCAATCGGTCCATCTG	0.408												
MAGT1	84061	broad.mit.edu	37	X	77131013	77131013	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:77131013G>A	uc004fof.2	-	2	342	c.280C>T	c.(280-282)CGT>TGT	p.R94C	MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Missense_Mutation_p.R94C	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	62					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				upper_aerodigestive_tract(1)	1						ACAAGGCGACGGAACTTGTCT	0.423												
TBX22	50945	broad.mit.edu	37	X	79282759	79282759	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:79282759C>T	uc010nmg.1	+	7	937	c.803C>T	c.(802-804)ACG>ATG	p.T268M	TBX22_uc004edi.1_Missense_Mutation_p.T148M|TBX22_uc004edj.1_Missense_Mutation_p.T268M	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	268	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						CCATAGATTACGAAACTAAAA	0.343												
POU3F4	5456	broad.mit.edu	37	X	82763700	82763700	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:82763700C>T	uc004eeg.2	+	1	432	c.368C>T	c.(367-369)TCT>TTT	p.S123F		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	123					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCGAACCCGTCTATCACGTCA	0.662												
KLHL4	56062	broad.mit.edu	37	X	86880677	86880677	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:86880677A>G	uc004efb.2	+	6	1387	c.1205A>G	c.(1204-1206)GAA>GGA	p.E402G	KLHL4_uc004efa.2_Missense_Mutation_p.E402G	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	402						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CTCCTGATGGAAGCTATGAAG	0.433												
GLA	2717	broad.mit.edu	37	X	100662741	100662741	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:100662741T>C	uc004ehl.1	-	1	261	c.151A>G	c.(151-153)ATG>GTG	p.M51V	HNRNPH2_uc004ehm.2_5'Flank|HNRNPH2_uc004ehn.2_5'Flank|GLA_uc011mrj.1_Missense_Mutation_p.M51V	NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	51					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding				0					Agalsidase beta(DB00103)	AGGTTGCACATGAAGCGCTCC	0.547												
PLP1	5354	broad.mit.edu	37	X	103045491	103045491	+	Missense_Mutation	SNP	G	G	A	rs137966879		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:103045491G>A	uc010nov.2	+	8	1079	c.799G>A	c.(799-801)GTC>ATC	p.V267I	RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.V267I|PLP1_uc004elj.2_Missense_Mutation_p.V232I|PLP1_uc011msf.1_Missense_Mutation_p.V212I|PLP1_uc010nox.2_Missense_Mutation_p.V221I	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	proteolipid protein 1 isoform 1	267	Cytoplasmic (Probable).				cell death|synaptic transmission	integral to membrane				ovary(1)	1						CAACTTTGCCGTCCTTAAACT	0.488												
COL4A5	1287	broad.mit.edu	37	X	107938087	107938087	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:107938087C>T	uc004enz.1	+	50	4959	c.4757C>T	c.(4756-4758)ACG>ATG	p.T1586M	COL4A5_uc011mso.1_Missense_Mutation_p.T1583M|COL4A5_uc011msp.1_Missense_Mutation_p.T262M	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1580	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						CACAGTCAGACGATCCAGATT	0.448									Alport_syndrome_with_Diffuse_Leiomyomatosis			
IRS4	8471	broad.mit.edu	37	X	107976681	107976681	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:107976681C>G	uc004eoc.2	-	1	2927	c.2894G>C	c.(2893-2895)GGA>GCA	p.G965A		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	965						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						AAATGGCACTCCAAACTCAAC	0.468												
ACSL4	2182	broad.mit.edu	37	X	108906627	108906627	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:108906627A>G	uc004eoi.2	-	14	2023	c.1518T>C	c.(1516-1518)GGT>GGC	p.G506G	ACSL4_uc004eoj.2_Silent_p.G465G|ACSL4_uc004eok.2_Silent_p.G465G|ACSL4_uc010npp.1_Silent_p.G506G	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	506	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	TAATTGTATAACCGCCTGGAA	0.323												
RGAG1	57529	broad.mit.edu	37	X	109694182	109694182	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:109694182C>T	uc004eor.1	+	3	583	c.337C>T	c.(337-339)CTG>TTG	p.L113L	RGAG1_uc011msr.1_Silent_p.L113L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	113										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CTCTGGGGCACTGTCCCCATT	0.537												
CHRDL1	91851	broad.mit.edu	37	X	109924728	109924728	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:109924728C>T	uc004eou.3	-	10	1487	c.1138G>A	c.(1138-1140)GTT>ATT	p.V380I	CHRDL1_uc004eov.2_Missense_Mutation_p.V369I|CHRDL1_uc004eow.2_Missense_Mutation_p.V378I|CHRDL1_uc010nps.2_Missense_Mutation_p.V379I|CHRDL1_uc004eot.2_Missense_Mutation_p.V299I|CHRDL1_uc011mss.1_Missense_Mutation_p.V294I	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	372					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						ATAGTCCAAACGTGGACCTCT	0.443												
ALG13	79868	broad.mit.edu	37	X	110925365	110925365	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:110925365C>T	uc011msy.1	+	2	121	c.87C>T	c.(85-87)ATC>ATT	p.I29I	ALG13_uc004epi.1_Silent_p.I29I|ALG13_uc011msw.1_5'UTR|ALG13_uc011msx.1_Intron|ALG13_uc011msz.1_5'UTR|ALG13_uc011mta.1_Intron|ALG13_uc011mtb.1_5'UTR			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	29					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						TTCAGAAAATCGAGAGCCTTG	0.438												
AMOT	154796	broad.mit.edu	37	X	112024224	112024224	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:112024224A>G	uc004epr.2	-	9	2363	c.2363T>C	c.(2362-2364)CTG>CCG	p.L788P	AMOT_uc004eps.2_Missense_Mutation_p.L379P|AMOT_uc011mtc.1_Missense_Mutation_p.L28P|hsa-mir-4329|MI0015901_5'Flank	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	788					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						AATGGACATCAGAGACTTCGC	0.542												
WDR44	54521	broad.mit.edu	37	X	117512387	117512387	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:117512387C>A	uc004eqn.2	+	2	508	c.83C>A	c.(82-84)CCA>CAA	p.P28Q	WDR44_uc004eqo.2_Missense_Mutation_p.P28Q|WDR44_uc011mtr.1_Missense_Mutation_p.P28Q	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	28	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						AACAGGTCTCCAGGAAAAGTT	0.318												
LONRF3	79836	broad.mit.edu	37	X	118147118	118147118	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:118147118G>A	uc004eqw.2	+	9	1959	c.1928G>A	c.(1927-1929)CGG>CAG	p.R643Q	LONRF3_uc004eqx.2_Missense_Mutation_p.R602Q|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.R387Q	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger	643	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2						CAGAGCCAGCGGGATGGCTAC	0.498												
NKRF	55922	broad.mit.edu	37	X	118724535	118724535	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:118724535G>A	uc004erq.2	-	2	1506	c.853C>T	c.(853-855)CGG>TGG	p.R285W	NKRF_uc004err.2_Missense_Mutation_p.R285W	NM_017544	NP_060014	O15226	NKRF_HUMAN	transcription factor NRF	285	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			ovary(1)|central_nervous_system(1)	2						TTGAATTTCCGCCGGACAACT	0.483												
ZBTB33	10009	broad.mit.edu	37	X	119389084	119389084	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:119389084G>A	uc004esn.1	+	2	2042	c.1814G>A	c.(1813-1815)AGC>AAC	p.S605N	ZBTB33_uc010nqm.1_Missense_Mutation_p.S605N	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	kaiso	605	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						GATAGATCAAGCACTATTCCT	0.413												
ODZ1	10178	broad.mit.edu	37	X	123615689	123615689	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:123615689T>A	uc004euj.2	-	21	3885	c.3821A>T	c.(3820-3822)AAG>ATG	p.K1274M	ODZ1_uc011muj.1_Missense_Mutation_p.K1280M|ODZ1_uc010nqy.2_Missense_Mutation_p.K1281M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1274	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TTCAAAATTCTTGGACAGATC	0.468												
DCAF12L2	340578	broad.mit.edu	37	X	125299723	125299723	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:125299723G>A	uc004euk.1	-	1	212	c.185C>T	c.(184-186)GCG>GTG	p.A62V		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	62										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						TGGGCCCCGCGCTCCTACCTC	0.736												
DCAF12L1	139170	broad.mit.edu	37	X	125685267	125685267	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:125685267T>G	uc004eul.2	-	1	1576	c.1325A>C	c.(1324-1326)AAG>ACG	p.K442T		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	442										skin(3)|ovary(1)	4						CACAAAGAGCTTCATCTCAGG	0.542												
HS6ST2	90161	broad.mit.edu	37	X	131762995	131762995	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:131762995G>A	uc011mve.1	-	4	1490	c.1074C>T	c.(1072-1074)TCC>TCT	p.S358S	HS6ST2_uc011mvb.1_Silent_p.S252S|HS6ST2_uc011mvc.1_Silent_p.S212S|HS6ST2_uc011mvd.1_Silent_p.S398S|HS6ST2_uc011mva.1_Silent_p.S84S	NM_147175	NP_671704	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2 isoform	358	Lumenal (Potential).					integral to membrane	sulfotransferase activity				0	Acute lymphoblastic leukemia(192;0.000127)					GCAGCTCTTCGGAGGTTGGAG	0.577												
MAP7D3	79649	broad.mit.edu	37	X	135318440	135318440	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:135318440C>T	uc004ezt.2	-	7	790	c.699G>A	c.(697-699)TCG>TCA	p.S233S	MAP7D3_uc004ezs.2_Silent_p.S197S|MAP7D3_uc011mwc.1_Silent_p.S215S|MAP7D3_uc010nsa.1_Silent_p.S232S	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	233						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TATCAGTAGACGAATGTAGGT	0.318												
GPR101	83550	broad.mit.edu	37	X	136113787	136113787	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:136113787T>C	uc011mwh.1	-	1	47	c.47A>G	c.(46-48)CAC>CGC	p.H16R		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	16	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					CATGCACGTGTGGCTGCTGTT	0.627												
MCF2	4168	broad.mit.edu	37	X	138678734	138678734	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:138678734A>G	uc004fau.2	-	19	2545	c.2251T>C	c.(2251-2253)TCA>CCA	p.S751P	MCF2_uc004fav.2_Missense_Mutation_p.S767P|MCF2_uc011mwl.1_Missense_Mutation_p.S728P|MCF2_uc010nsh.1_Missense_Mutation_p.S751P|MCF2_uc011mwm.1_Missense_Mutation_p.S712P|MCF2_uc011mwn.1_Missense_Mutation_p.S896P|MCF2_uc004faw.2_Missense_Mutation_p.S811P|MCF2_uc011mwo.1_Missense_Mutation_p.S827P	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	751	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					AAACTGTATGACGGGTATCTG	0.378												
MAGEC1	9947	broad.mit.edu	37	X	140993325	140993325	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:140993325C>T	uc004fbt.2	+	4	421	c.135C>T	c.(133-135)GAC>GAT	p.D45D	MAGEC1_uc010nsl.1_Translation_Start_Site	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	45							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGAGCGACGACACCCTGT	0.587										HNSCC(15;0.026)		
AFF2	2334	broad.mit.edu	37	X	148037280	148037280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:148037280C>T	uc004fcp.2	+	11	2184	c.1705C>T	c.(1705-1707)CAG>TAG	p.Q569*	AFF2_uc004fcq.2_Nonsense_Mutation_p.Q559*|AFF2_uc004fcr.2_Nonsense_Mutation_p.Q530*|AFF2_uc011mxb.1_Nonsense_Mutation_p.Q534*|AFF2_uc004fcs.2_Nonsense_Mutation_p.Q536*|AFF2_uc011mxc.1_Nonsense_Mutation_p.Q210*	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	569					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					AATGGAAGTCCAGATGAAAGT	0.488												
MAMLD1	10046	broad.mit.edu	37	X	149671788	149671788	+	Splice_Site	SNP	G	G	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:149671788G>C	uc004fee.1	+	5	2360	c.2284_splice	c.e5+1	p.A762_splice	MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Splice_Site_p.A737_splice|MAMLD1_uc011mxw.1_Splice_Site_p.A648_splice	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1						male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					gacgccacaggtaagtcactt	0.159												
CD99L2	83692	broad.mit.edu	37	X	149983348	149983348	+	Silent	SNP	A	A	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:149983348A>G	uc004fel.2	-	4	382	c.264T>C	c.(262-264)GGT>GGC	p.G88G	CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Intron|CD99L2_uc004fen.2_Intron|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Silent_p.G88G	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN	CD99 antigen-like 2 isoform E3'-E4'-E3-E4	88	Extracellular (Potential).				cell adhesion	cell junction|integral to membrane				large_intestine(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTCCTATACCCGGTTTCC	0.473												
MAGEA6	4105	broad.mit.edu	37	X	151870140	151870140	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:151870140C>T	uc004ffq.1	+	3	1024	c.830C>T	c.(829-831)GCC>GTC	p.A277V	MAGEA6_uc004ffr.1_Missense_Mutation_p.A277V|MAGEA2_uc010nto.2_Intron	NM_005363	NP_005354	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	277	MAGE.						protein binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCAAGGGCCCTCATTGAA	0.527												
PDZD4	57595	broad.mit.edu	37	X	153070218	153070218	+	Silent	SNP	G	G	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:153070218G>A	uc004fiz.1	-	8	1150	c.900C>T	c.(898-900)GAC>GAT	p.D300D	PDZD4_uc004fiy.1_Silent_p.D225D|PDZD4_uc004fix.2_Silent_p.D204D|PDZD4_uc004fja.1_Silent_p.D306D|PDZD4_uc011mze.1_Silent_p.D191D	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	300						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)					TCGGGGGTTCGTCCCCCAGCA	0.662												
L1CAM	3897	broad.mit.edu	37	X	153137620	153137620	+	Silent	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:153137620C>T	uc004fjb.2	-	4	495	c.387G>A	c.(385-387)CGG>CGA	p.R129R	L1CAM_uc004fjc.2_Silent_p.R129R|L1CAM_uc010nuo.2_Silent_p.R124R|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Silent_p.R124R	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	129	Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGCCATGAGCCGGATCTCAT	0.617												
RPL10	6134	broad.mit.edu	37	X	153628830	153628830	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:153628830T>C	uc004fkm.2	+	6	543	c.355T>C	c.(355-357)TTT>CTT	p.F119L	uc010nuv.1_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.F119L|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.F44L	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	119					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGAGGTGCCTTTGGAAAGCC	0.537												
CLIC2	1193	broad.mit.edu	37	X	154507295	154507295	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:154507295C>T	uc004fnf.2	-	6	891	c.641G>A	c.(640-642)CGT>CAT	p.R214H		NM_001289	NP_001280	O15247	CLIC2_HUMAN	chloride intracellular channel 2	214	GST C-terminal.|C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			large_intestine(1)|ovary(1)|skin(1)	3	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTGGAGATAACGCCAGACTCC	0.403												
EPPK1	83481	broad.mit.edu	37	8	144940071	144940081	+	Splice_Site	DEL	AAAAAAAAAAC	AAAAAAAAAAC	-	rs72444649		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144940071_144940081delAAAAAAAAAAC	uc003zaa.1	-	3	15358	c.15345_splice	c.e3-1			NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1							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)			aagaatgacaaaaaaaaaaacaaaaaaaaaa	0.346												
KIF17	57576	broad.mit.edu	37	1	21016831	21016831	+	Splice_Site	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:21016830_21016830TG>T	uc001bdr.4	-	7	1352	c.1234_splice	c.e7-1	p.E412_splice	KIF17_uc009vpx.3_Splice_Site|KIF17_uc001bds.4_Splice_Site_p.E412_splice	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	412					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TTCATACTCCTGGGGGGGTGG	0.527												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
USP34	9736	broad.mit.edu	37	2	61577527	61577527	+	Splice_Site	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACAGTGTCTAAAAAAAAGA	0.338												
SCAP	22937	broad.mit.edu	37	3	47458613	47458613	+	Splice_Site	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:47458612_47458612CT>C	uc003crh.1	-	18	3311	c.3056_splice	c.e18+1	p.R1019_splice	SCAP_uc011baz.1_Splice_Site_p.R763_splice|SCAP_uc003crg.2_Splice_Site_p.R626_splice	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	1019	Interaction with SREBF2 (By similarity).			R -> G (in Ref. 6; BAC11673).	cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCACGCTCACCTTTTGTCCAA	0.567												
TF	7018	broad.mit.edu	37	3	133494278	133494278	+	Splice_Site	DEL	A	A	-	rs145306578		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:133494277_133494277GA>G	uc003epu.2	+	20	3416	c.1688_splice	c.e20-1	p.G563_splice	TF_uc011blt.2_Splice_Site_p.G436_splice|TF_uc003epw.2_Intron|TF_uc003epv.2_Splice_Site_p.G563_splice	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	563	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.G563E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CTGTCCCTAGGAAAAAACCCT	0.512												
PLRG1	5356	broad.mit.edu	37	4	155468219	155468219	+	Splice_Site	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:155468218_155468218TA>T	uc003iny.3	-	4	385	c.260_splice	c.e4-1	p.G87_splice	PLRG1_uc003inz.3_Splice_Site_p.G87_splice|PLRG1_uc011cil.2_Splice_Site	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	87						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CTTCTTGTCCTAAAAAAACAC	0.308												
KIAA1324L	222223	broad.mit.edu	37	7	86542523	86542523	+	Splice_Site	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:86542522_86542522TA>T	uc011kha.2	-	14	1917	c.1732_splice	c.e14-1	p.N578_splice	KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	578						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCGTCTATTCTAAAAAAAAGA	0.413												
SLC39A4	55630	broad.mit.edu	37	8	145640283	145640283	+	Splice_Site	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:145640282_145640282TG>T	uc003zcq.3	-	5	905	c.805_splice	c.e5-1	p.V269_splice	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'UTR|SLC39A4_uc003zcp.3_Splice_Site_p.V244_splice	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	269						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGGCATACCTGGGGGGTGGC	0.672												
ZFP91	80829	broad.mit.edu	37	11	58377810	58377811	+	Splice_Site	INS	-	-	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:58377809_58377810T>TA	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)				TGGCATTAGGTAAAAAAAACAT	0.312												
SF3B2	10992	broad.mit.edu	37	11	65836146	65836146	+	Splice_Site	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65836145_65836145CA>C	uc001ogy.1	+	22	2657	c.2617_splice	c.e22-1	p.Q873_splice	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	873					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACG	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DZIP1	22873	broad.mit.edu	37	13	96241464	96241464	+	Splice_Site	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:96241463_96241463TA>T	uc001vmk.3	-	19	2826	c.1974_splice	c.e19-1	p.K658_splice	DZIP1_uc001vmj.3_Splice_Site_p.K134_splice|DZIP1_uc001vml.3_Splice_Site_p.K639_splice	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	658					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCTTAATTCTAAAAAAACAA	0.279												
C14orf149	112849	broad.mit.edu	37	14	59946072	59946072	+	Splice_Site	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333												
TLE2	7089	broad.mit.edu	37	19	3028804	3028804	+	Splice_Site	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:3028803_3028803TG>T	uc010dth.3	-	2	288	c.25_splice	c.e2-1	p.T9_splice	TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	9	Gln-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GAGCGGGGTCTGGGGGGGGTG	0.622												
NDRG3	57446	broad.mit.edu	37	20	35284817	35284817	+	Splice_Site	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:35284816_35284816TG>T	uc002xfw.3	-	15	1037	c.895_splice	c.e15-1	p.P299_splice	NDRG3_uc002xfx.3_Splice_Site_p.P287_splice|NDRG3_uc010zvq.2_Splice_Site_p.P204_splice|NDRG3_uc010zvr.2_Splice_Site_p.P187_splice	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	299					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CTTCCCAGGCTGGGGGGATAA	0.423												
SOX13	9580	broad.mit.edu	37	1	204091508	204091508	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:204091508delC	uc001ham.2	+	9	1600	c.1005delC	c.(1003-1005)AGCfs	p.S335fs	SOX13_uc010pqp.1_Frame_Shift_Del_p.S334fs|SOX13_uc010pqq.1_Frame_Shift_Del_p.S202fs	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	335	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCAGTCCAGCCCCCCGAGCC	0.622												
UBQLN3	50613	broad.mit.edu	37	11	5529402	5529402	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:5529402delA	uc001may.1	-	2	1473	c.1387delT	c.(1387-1389)TCCfs	p.S463fs	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	463										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCGTGGGGGAAAAAGATAAG	0.547												
ILK	3611	broad.mit.edu	37	11	6629692	6629692	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:6629692delT	uc001mee.2	+	4	459	c.324delT	c.(322-324)TGTfs	p.C108fs	ILK_uc001mef.2_Frame_Shift_Del_p.C108fs|ILK_uc010rap.1_5'UTR|ILK_uc010raq.1_Frame_Shift_Del_p.C108fs|ILK_uc001meg.2_5'UTR|ILK_uc001meh.2_Frame_Shift_Del_p.C108fs|ILK_uc001mei.2_5'Flank	NM_001014794	NP_001014794	Q13418	ILK_HUMAN	integrin-linked kinase	108	Interaction with LIMS1.|ANK 4.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		ACTATGCCTGTTTTTGGGGCC	0.502												
LTBP3	4054	broad.mit.edu	37	11	65321358	65321358	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:65321358delG	uc001oej.2	-	3	947	c.678delC	c.(676-678)CCCfs	p.P226fs	LTBP3_uc010roi.1_Frame_Shift_Del_p.P109fs|LTBP3_uc001oei.2_Frame_Shift_Del_p.P226fs|LTBP3_uc010roj.1_Intron|LTBP3_uc010rok.1_Frame_Shift_Del_p.P137fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	226						extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						CATTCACCACGGGGGGCGGGG	0.746												
GRIP1	23426	broad.mit.edu	37	12	66786223	66786223	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:66786223delC	uc001stk.2	-	18	2414	c.2173delG	c.(2173-2175)GATfs	p.D725fs	GRIP1_uc010sta.1_Frame_Shift_Del_p.D669fs|GRIP1_uc001stj.2_Frame_Shift_Del_p.D507fs|GRIP1_uc001stl.1_Frame_Shift_Del_p.D617fs|GRIP1_uc001stm.2_Frame_Shift_Del_p.D725fs	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	777					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			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCTCCACATCCCCCAGGTCA	0.517												
SBNO1	55206	broad.mit.edu	37	12	123798171	123798171	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:123798171delA	uc010tap.1	-	23	3216	c.3216delT	c.(3214-3216)TTTfs	p.F1072fs	SBNO1_uc010tao.1_Frame_Shift_Del_p.F1071fs|SBNO1_uc010taq.1_Frame_Shift_Del_p.F23fs|SBNO1_uc001ues.1_Frame_Shift_Del_p.F23fs	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1072							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGTTACCTTTAAAAAATTCTC	0.313												
FLJ10357	55701	broad.mit.edu	37	14	21550248	21550248	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:21550248delC	uc001vzp.2	+	14	3250	c.3221delC	c.(3220-3222)ACCfs	p.T1074fs	FLJ10357_uc001vzo.1_Frame_Shift_Del_p.T153fs|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Frame_Shift_Del_p.T360fs	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	1074					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		GGAGTAGGCACCCCCCGGATG	0.622												
INF2	64423	broad.mit.edu	37	14	105174185	105174185	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:105174185delC	uc001ypb.2	+	8	1724	c.1581delC	c.(1579-1581)AGCfs	p.S527fs	INF2_uc010tyi.1_Frame_Shift_Del_p.S527fs|INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	527					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GCACCTGCAGCCCCCCCGTGG	0.562												
CYTSB	92521	broad.mit.edu	37	17	20135668	20135668	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:20135668delG	uc002gwq.2	+	7	2446	c.2301delG	c.(2299-2301)CTGfs	p.L767fs	CYTSB_uc010cqx.2_Frame_Shift_Del_p.L767fs|CYTSB_uc002gwr.2_Frame_Shift_Del_p.L767fs|CYTSB_uc002gws.2_Frame_Shift_Del_p.L767fs|CYTSB_uc002gwv.2_Frame_Shift_Del_p.L686fs|CYTSB_uc010vzf.1_Frame_Shift_Del_p.L107fs|CYTSB_uc002gww.2_Frame_Shift_Del_p.L543fs|CYTSB_uc002gwt.2_Frame_Shift_Del_p.L686fs|CYTSB_uc002gwu.2_Frame_Shift_Del_p.L686fs	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	767	Potential.					nucleus					0						AGAAGGAGCTGGGGGATGTGC	0.612												
CSF3	1440	broad.mit.edu	37	17	38171995	38171995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:38171995delC	uc002htp.2	+	2	132	c.92delC	c.(91-93)ACCfs	p.T31fs	CSF3_uc002hto.2_Frame_Shift_Del_p.T31fs|CSF3_uc002htq.2_Frame_Shift_Del_p.T27fs|CSF3_uc010wep.1_Frame_Shift_Del_p.T27fs	NM_000759	NP_000750	P09919	CSF3_HUMAN	colony stimulating factor 3 isoform a precursor	31					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			ovary(1)	1	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CAGGAAGCCACCCCCCTGGGC	0.642												
STRADA	92335	broad.mit.edu	37	17	61781804	61781804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:61781804delG	uc002jbm.2	-	11	1156	c.997delC	c.(997-999)CGGfs	p.R333fs	STRADA_uc002jbn.2_Frame_Shift_Del_p.R275fs|STRADA_uc002jbo.2_Frame_Shift_Del_p.R296fs|STRADA_uc002jbp.2_Frame_Shift_Del_p.R296fs|STRADA_uc002jbq.2_Frame_Shift_Del_p.R275fs|STRADA_uc010wpq.1_Frame_Shift_Del_p.R289fs|STRADA_uc010wpr.1_Frame_Shift_Del_p.R304fs|STRADA_uc010ddw.2_Frame_Shift_Del_p.R304fs|STRADA_uc002jbr.2_3'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	333	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						TTGGAGGGCCGGGGGGTGCTG	0.647												
ATP8B3	148229	broad.mit.edu	37	19	1785177	1785177	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:1785177delG	uc002ltw.2	-	27	3747	c.3513delC	c.(3511-3513)CCCfs	p.P1171fs	ATP8B3_uc002ltv.2_Frame_Shift_Del_p.P1134fs|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	1171	Extracellular (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGGTCGTGGGGGATACTC	0.567												
LENG9	94059	broad.mit.edu	37	19	54973589	54973589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:54973589delG	uc010yez.1	-	1	1306	c.1187delC	c.(1186-1188)CCTfs	p.P396fs		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	396					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GCTCAGCCGAGGGGGTGCATT	0.662												
SPDYA	245711	broad.mit.edu	37	2	29052084	29052084	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:29052084delA	uc002rmj.2	+	6	657	c.451delA	c.(451-453)AAAfs	p.K151fs	SPDYA_uc002rmi.2_Frame_Shift_Del_p.K151fs|SPDYA_uc002rmk.2_Frame_Shift_Del_p.K151fs|SPDYA_uc002rml.2_Frame_Shift_Del_p.K151fs	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	speedy homolog A isoform 1	151	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			upper_aerodigestive_tract(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					GGCTTTAGGGAAAAACTGGAG	0.338												
EIF5B	9669	broad.mit.edu	37	2	99976805	99976805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:99976805delA	uc002tab.2	+	2	326	c.142delA	c.(142-144)AAAfs	p.K48fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	48	Poly-Lys.				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						GAAAAAAGAGAAAAAAAAGCA	0.338												
EIF5B	9669	broad.mit.edu	37	2	99977878	99977878	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:99977878delA	uc002tab.2	+	4	698	c.514delA	c.(514-516)AAAfs	p.K172fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	172					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						GGATAACAGTAAAAAAATTAA	0.323												
UPP2	151531	broad.mit.edu	37	2	158980303	158980303	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:158980303delA	uc002tzp.2	+	6	901	c.707delA	c.(706-708)GAAfs	p.E236fs	UPP2_uc002tzo.2_Frame_Shift_Del_p.E293fs	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	236					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0						TTTTCCAGAGAAAAAAAGTTA	0.468												
LRRN4	164312	broad.mit.edu	37	20	6025207	6025208	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:6025207_6025208delTT	uc002wmo.2	-	4	1203_1204	c.979_980delAA	c.(979-981)AAGfs	p.K327fs		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	327	Extracellular (Potential).					integral to membrane				skin(3)	3						GACAGTTCTCTTTGCATCCGTG	0.520												
OSBP2	23762	broad.mit.edu	37	22	31289928	31289930	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:31289928_31289930delAGC	uc003aiy.1	+	12	2419_2421	c.2315_2317delAGC	c.(2314-2319)AAGCAG>AAG	p.Q773del	OSBP2_uc011ala.1_In_Frame_Del_p.Q607del|OSBP2_uc010gwc.1_In_Frame_Del_p.Q600del|OSBP2_uc011alb.1_In_Frame_Del_p.Q724del|OSBP2_uc003aiz.1_In_Frame_Del_p.Q772del|OSBP2_uc003aja.1_In_Frame_Del_p.Q406del|OSBP2_uc011alc.1_In_Frame_Del_p.Q515del|OSBP2_uc003ajb.2_In_Frame_Del_p.Q318del|OSBP2_uc011ald.1_In_Frame_Del_p.Q317del|OSBP2_uc010gwd.1_Intron	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	773					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						TCTGACGGGAAGCAGAAGACAGT	0.611												
PNPLA5	150379	broad.mit.edu	37	22	44285694	44285694	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:44285694delG	uc003beg.2	-	3	574	c.477delC	c.(475-477)CCCfs	p.P159fs	PNPLA5_uc011aqc.1_Frame_Shift_Del_p.R34fs|PNPLA5_uc003beh.2_Intron	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	159	Patatin.				lipid catabolic process		hydrolase activity				0		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTCTGAACTCGGGGGGGATCA	0.552												
SCAP	22937	broad.mit.edu	37	3	47459816	47459816	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:47459816delG	uc003crh.1	-	15	2581	c.2326delC	c.(2326-2328)CTCfs	p.L776fs	SCAP_uc011baz.1_Frame_Shift_Del_p.L521fs|SCAP_uc003crg.2_Frame_Shift_Del_p.L384fs	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	776	Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 1.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTCACCATGAGGTGGCCGCGC	0.716												
ZBTB49	166793	broad.mit.edu	37	4	4304473	4304473	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:4304473delA	uc003ghu.2	+	3	1085	c.910delA	c.(910-912)AAAfs	p.K304fs	ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Frame_Shift_Del_p.K4fs	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						GATGAGGCTCAAAAAGGCCAT	0.488												
KLF3	51274	broad.mit.edu	37	4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:38690460delA	uc003gth.3	+	3	644	c.312delA	c.(310-312)ATAfs	p.I104fs	KLF3_uc003gtg.2_Frame_Shift_Del_p.I104fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	104	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						GCCCACCGATAAAAAAATACT	0.617												
IBTK	25998	broad.mit.edu	37	6	82891683	82891683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:82891683delT	uc003pjl.1	-	26	4165	c.3638delA	c.(3637-3639)AAGfs	p.K1213fs	IBTK_uc011dyu.1_Frame_Shift_Del_p.K164fs|IBTK_uc011dyv.1_Frame_Shift_Del_p.K1198fs|IBTK_uc011dyw.1_Frame_Shift_Del_p.K1012fs|IBTK_uc010kbi.1_Frame_Shift_Del_p.K907fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	1213					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)		AGTAACAGACTTTTTTTCTTC	0.343												
ABCA13	154664	broad.mit.edu	37	7	48317774	48317774	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:48317774delT	uc003toq.2	+	18	7008	c.6983delT	c.(6982-6984)ATTfs	p.I2328fs		NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2328					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TTGATGAACATTTTTTCAAGT	0.274												
GIMAP7	168537	broad.mit.edu	37	7	150217889	150217889	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:150217889delT	uc003whk.2	+	2	957	c.827delT	c.(826-828)GTTfs	p.V276fs		NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	276							GTP binding			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTAAAGATGTTTTTAATAGG	0.239												
EPPK1	83481	broad.mit.edu	37	8	144940071	144940081	+	Splice_Site	DEL	AAAAAAAAAAC	AAAAAAAAAAC	-	rs72444649		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144940071_144940081delAAAAAAAAAAC	uc003zaa.1	-	3	15358	c.15345_splice	c.e3-1			NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1							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)			aagaatgacaaaaaaaaaaacaaaaaaaaaa	0.346												
KIAA1539	80256	broad.mit.edu	37	9	35108148	35108148	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:35108148delC	uc003zwl.2	-	3	449	c.124delG	c.(124-126)GCGfs	p.A42fs	KIAA1539_uc003zwm.2_Frame_Shift_Del_p.A42fs|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Frame_Shift_Del_p.A42fs|KIAA1539_uc003zwp.1_Frame_Shift_Del_p.A42fs|KIAA1539_uc010mkk.1_RNA	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	42						nucleus				ovary(2)	2	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGGATGTCGCCCCCCCTGCT	0.657												
FAM69B	138311	broad.mit.edu	37	9	139616704	139616704	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:139616704delG	uc004cik.2	+	4	528	c.434delG	c.(433-435)CGGfs	p.R145fs	FAM69B_uc004cil.2_Frame_Shift_Del_p.R58fs|SNHG7_uc004cim.2_RNA	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	145	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		AAGCCCACCCGGGGCACCTCC	0.617												
PLCH2	9651	broad.mit.edu	37	1	2428286	2428288	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:2428285_2428287TGTC>T	uc001aji.1	+	14	2223_2225	c.1949_1951TGTC>T	c.(1948-1953)gtgtcg>gTcg	p.S652del	PLCH2_uc010nyz.2_In_Frame_Del_p.S441del|PLCH2_uc009vle.1_In_Frame_Del_p.S441del|PLCH2_uc001ajj.1_In_Frame_Del_p.S441del|PLCH2_uc001ajk.1_In_Frame_Del_p.S441del|PLCH2_uc001ajl.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	653	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AGCTGGCAGGTGTCGTCCTTCAG	0.665												
CLCN6	1185	broad.mit.edu	37	1	11893605	11893605	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:11893604_11893604AT>A	uc001ate.4	+	13	1394	c.1281_1281AT>A	c.(1279-1281)acafs	p.T427fs	CLCN6_uc010oat.2_Frame_Shift_Del_p.T143fs|CLCN6_uc010oau.2_Frame_Shift_Del_p.T405fs	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	427					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTATCAAGACATTTTTTTGTC	0.458												
CLCNKA	1187	broad.mit.edu	37	1	16378297	16378297	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:16378296_16378296AG>A	uc001axx.4	+	13	1525	c.1389_1389AG>A	c.(1387-1389)ccafs	p.P463fs	CLCNKA_uc021ogl.1_Frame_Shift_Del_p.P110fs|CLCNKA_uc021ogm.1_Frame_Shift_Del_p.P294fs|CLCNKA_uc001axy.4_Frame_Shift_Del_p.P294fs	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	463					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		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;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCATCATGCCAGGGGGGTATG	0.622												
KIF17	57576	broad.mit.edu	37	1	21016831	21016831	+	Splice_Site	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:21016830_21016830TG>T	uc001bdr.4	-	7	1352	c.1234_splice	c.e7-1	p.E412_splice	KIF17_uc009vpx.3_Splice_Site|KIF17_uc001bds.4_Splice_Site_p.E412_splice	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	412					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TTCATACTCCTGGGGGGGTGG	0.527												
TMEM57	55219	broad.mit.edu	37	1	25785186	25785186	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:25785185_25785185CA>C	uc001bkk.3	+	5	1158	c.956_956CA>C	c.(955-957)tcafs	p.S319fs	TMEM57_uc009vru.3_Intron|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	319						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCTTCCTCAAAAAATTAC	0.368												
RPA2	6118	broad.mit.edu	37	1	28240614	28240614	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:28240613_28240613GC>G	uc001bpe.1	-	1	360	c.78_78GC>C	c.(76-78)ggcfs	p.G26fs	RPA2_uc010ofp.1_5'UTR	NM_002946	NP_002937	P15927	RFA2_HUMAN	Homo sapiens replication protein A2, 32kDa (RPA2), mRNA.	26	Gly/Ser-rich.				DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		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;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		GCGATCCAAAGCCCCCCGGGG	0.512								Direct reversal of damage;Nucleotide excision repair (NER)				
TINAGL1	64129	broad.mit.edu	37	1	32043047	32043047	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:32043046_32043046TC>T	uc001bta.3	+	1	423	c.297_297TC>T	c.(295-297)tttfs	p.F99fs	TINAGL1_uc010ogi.1_Frame_Shift_Del_p.F99fs|TINAGL1_uc010ogj.2_Frame_Shift_Del_p.F99fs|TINAGL1_uc010ogk.1_Frame_Shift_Del_p.F99fs|TINAGL1_uc021oko.1_5'Flank	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	99					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CACCCCCTTTTCCCCCGATCC	0.592												
NCDN	23154	broad.mit.edu	37	1	36026171	36026171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:36026170_36026170CG>C	uc001bza.3	+	3	545	c.418_418CG>C	c.(418-420)cggfs	p.R140fs	KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Frame_Shift_Del_p.R140fs|NCDN_uc001bzc.3_Frame_Shift_Del_p.R123fs	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	140					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTCACAGCCCGGGGGGACCC	0.632												
THRAP3	9967	broad.mit.edu	37	1	36754831	36754832	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:36754830_36754831C>CG	uc001cae.4	+	4	1434_1435	c.1210_1211C>CG	c.(1210-1212)cggfs	p.R404fs	THRAP3_uc001caf.4_Frame_Shift_Ins_p.R404fs|THRAP3_uc001cag.1_Frame_Shift_Ins_p.R404fs	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	404					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R404W(2)|p.R404L(2)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAGCCTTTTCGGGGCAGTCAG	0.426			T	USP6	aneurysmal bone cysts							
EPHA10	284656	broad.mit.edu	37	1	38185238	38185238	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:38185237_38185237TG>T	uc009vvi.3	-	14	2691	c.2605_2605CA>A	c.(2605-2607)aggfs	p.R869fs	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	869	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACAGTTCCTGGGGGGTGGC	0.612												
KIAA0754	643314	broad.mit.edu	37	1	39877464	39877464	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:39877463_39877463AT>A	uc009vvt.1	+	0	2288	c.1526_1526AT>A	c.(1525-1527)catfs	p.H509fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	373										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTAATTAGTCATTTTTCAGGG	0.393												
GLIS1	148979	broad.mit.edu	37	1	53980428	53980429	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:53980427_53980428T>TG	uc001cvr.1	-	6	1795_1796	c.1228_1229A>CA	c.(1228-1230)catfs	p.H410fs		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	410					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AAGTCCGTTATGGGGGGTGATG	0.614												
TMEM48	55706	broad.mit.edu	37	1	54291559	54291559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:54291558_54291558GA>G	uc001cvs.3	-	4	798	c.507_507TC>C	c.(505-507)ttcfs	p.F169fs	TMEM48_uc010onu.2_Frame_Shift_Del_p.F129fs|TMEM48_uc001cvt.3_Frame_Shift_Del_p.F46fs|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	169					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						CAGTCAGTAGGAAAAAAAGAT	0.373												
DOCK7	85440	broad.mit.edu	37	1	62939733	62939733	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:62939732_62939732GA>G	uc001daq.3	-	46	6134	c.6100_6100TC>C	c.(6100-6102)ctgfs	p.L2034fs	DOCK7_uc001dan.3_Frame_Shift_Del_p.L1897fs|DOCK7_uc001dao.3_Frame_Shift_Del_p.L1895fs|DOCK7_uc001dap.3_Frame_Shift_Del_p.L2014fs|DOCK7_uc001dam.3_Frame_Shift_Del_p.L1216fs|DOCK7_uc010oov.1_Frame_Shift_Del_p.L775fs|DOCK7_uc001dar.1_Frame_Shift_Del_p.L208fs	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	2045	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATTTCAGACAGAAAAACCTGG	0.358												
GNG12	55970	broad.mit.edu	37	1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:68171150_68171150GT>G	uc001dea.2	-	3	408	c.203_203AC>C	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433												
LRRIQ3	127255	broad.mit.edu	37	1	74648381	74648381	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:74648380_74648380CT>C	uc001dfy.4	-	2	607	c.415_415AG>G	c.(415-417)ggafs	p.G139fs	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	139	LRRCT.							p.G139*(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGTCTATATCCTTTTTTAAGG	0.378												
AK5	26289	broad.mit.edu	37	1	77806069	77806069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:77806068_77806068AC>A	uc001dhn.3	+	5	1043	c.706_706AC>A	c.(706-708)accfs	p.T236fs	AK5_uc001dho.3_Frame_Shift_Del_p.T210fs	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	236					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ACAGATCTGTACCCCCGATTT	0.463												
GBP3	2635	broad.mit.edu	37	1	89478904	89478905	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:89478903_89478904TTA>T	uc001dmt.3	-	5	1037_1038	c.832_833TAA>A	c.(832-834)aaafs	p.K278fs	GBP3_uc010oss.2_Frame_Shift_Del_p.K199fs|GBP3_uc001dmu.3_Frame_Shift_Del_p.K144fs|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Frame_Shift_Del_p.K278fs	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	278						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TGAAAGAGTTTTAGTTTTGGAA	0.446												
EPHX4	253152	broad.mit.edu	37	1	92511122	92511123	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:92511121_92511122T>TG	uc001don.2	+	3	612_613	c.508_509T>TG	c.(508-510)tggfs	p.W170fs		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386												
AGL	178	broad.mit.edu	37	1	100378028	100378029	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:100378027_100378028C>CA	uc001dsi.1	+	28	4303_4304	c.3903_3904C>CA	c.(3901-3906)tccaaafs	p.S1301fs	AGL_uc001dsj.1_Frame_Shift_Ins_p.S1301fs|AGL_uc001dsk.1_Frame_Shift_Ins_p.S1301fs|AGL_uc001dsl.1_Frame_Shift_Ins_p.S1301fs|AGL_uc001dsm.1_Frame_Shift_Ins_p.S1285fs|AGL_uc001dsn.1_Frame_Shift_Ins_p.S1284fs	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1301					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGAATTATCCAAAAAAAATAT	0.322												
C1orf88	128344	broad.mit.edu	37	1	111892836	111892836	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:111892835_111892835TA>T	uc001eaw.2	+	4	577	c.497_497TA>T	c.(496-498)ctafs	p.L166fs	C1orf88_uc001eax.2_Frame_Shift_Del_p.L133fs|C1orf88_uc009wge.1_Frame_Shift_Del_p.P89fs	NM_181643	NP_857594	Q8TCI5	CA088_HUMAN	Homo sapiens chromosome 1 open reading frame 88 (C1orf88), mRNA.	166										breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)	14		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAAAGAACCCTAAAAGCTGAG	0.423												
EFNA3	1944	broad.mit.edu	37	1	155041388	155041388	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:155041387_155041387AG>A	uc001fhd.3	+	3	615	c.528_528AG>A	c.(526-528)cgafs	p.R176fs	EFNA3_uc010pew.2_Intron|EFNA3_uc001fhc.3_Intron|EFNA3_uc001fhe.3_Intron	NM_005227	NP_005218	P52797	EFNA3_HUMAN	Homo sapiens ephrin-A4 (EFNA4), transcript variant 1, mRNA.	72					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGGGTGGCGAGGGGGGGACA	0.577												
FAM189B	10712	broad.mit.edu	37	1	155223469	155223470	+	Frame_Shift_Del	DEL	GT	GT	-	rs147288480		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:155223468_155223469AGT>A	uc001fjm.3	-	4	1174_1175	c.568_569ACT>T	c.(568-570)ctcfs	p.L190fs	FAM189B_uc009wql.3_5'Flank|FAM189B_uc001fjn.3_Frame_Shift_Del_p.L94fs|FAM189B_uc001fjo.3_Frame_Shift_Del_p.L171fs|FAM189B_uc001fjp.3_Non-coding_Transcript|FAM189B_uc001fjq.1_Frame_Shift_Del_p.L190fs	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	190						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						AATAGCAGAGAGTGTACAGATT	0.574												
C1orf114	57821	broad.mit.edu	37	1	169364416	169364416	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:169364415_169364415AT>A	uc001gga.1	-	5	1568	c.1400_1400AT>T	c.(1399-1401)atgfs	p.M467fs	BLZF1_uc001gfy.3_Intron|C1orf114_uc001gfz.1_Frame_Shift_Del_p.M466fs|C1orf114_uc009wvq.1_Frame_Shift_Del_p.M466fs	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	467								p.M466fs*12(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TTGCTCTGCCATTTTTTCCAT	0.408												
ABL2	27	broad.mit.edu	37	1	179077894	179077894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:179077893_179077893AT>A	uc001gmj.4	-	11	2796	c.2509_2509AT>T	c.(2509-2511)tcafs	p.S837fs	ABL2_uc010pnf.2_Frame_Shift_Del_p.S734fs|ABL2_uc010png.2_Frame_Shift_Del_p.S713fs|ABL2_uc010pnh.2_Frame_Shift_Del_p.S816fs|ABL2_uc001gmg.4_Frame_Shift_Del_p.S719fs|ABL2_uc001gmi.4_Frame_Shift_Del_p.S822fs|ABL2_uc010pne.2_Frame_Shift_Del_p.S698fs	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	837	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTTTCCTCTGATTTTTTTGGA	0.522			T	ETV6	AML							
HMCN1	83872	broad.mit.edu	37	1	185704144	185704144	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:185704143_185704143CT>C	uc001grq.1	+	0	461	c.232_232CT>C	c.(232-234)cttfs	p.L78fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	78	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.P77T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAAAAGACCTCTTTTCAACTT	0.373												
CR2	1380	broad.mit.edu	37	1	207648182	207648182	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:207648181_207648181AC>A	uc001hfw.3	+	12	2278	c.2159_2159AC>A	c.(2158-2160)cacfs	p.H720fs	CR2_uc001hfv.3_Frame_Shift_Del_p.H779fs|CR2_uc009xch.3_Frame_Shift_Del_p.H720fs	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	720	Sushi 12.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATTCACTGTCACCCTCCACCA	0.423												
CDC42BPA	8476	broad.mit.edu	37	1	227259974	227259976	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:227259973_227259975GTTC>G	uc001hqr.3	-	19	3704_3706	c.2761_2763GAAC>C	c.(2761-2763)aac>C	p.N921del	CDC42BPA_uc001hqq.3_In_Frame_Del_p.N185del|CDC42BPA_uc001hqs.3_In_Frame_Del_p.N840del|CDC42BPA_uc009xes.3_In_Frame_Del_p.N921del|CDC42BPA_uc010pvs.2_In_Frame_Del_p.N921del|CDC42BPA_uc001hqp.3_In_Frame_Del_p.N77del|CDC42BPA_uc001hqu.1_In_Frame_Del_p.N77del	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	921					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GTAGTTCCAAGTTCTTCTTCTCT	0.374												
OBSCN	84033	broad.mit.edu	37	1	228562316	228562318	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:228562315_228562317GTCC>G	uc009xez.1	+	96	22569_22571	c.22525_22527GTCC>G	c.(22525-22527)gtc>G	p.V7509del	OBSCN_uc001hsr.1_In_Frame_Del_p.V2138del	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7509	Ig-like 55.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCAGCCGTGTCCTCATCTCTG	0.611												
CAPN9	10753	broad.mit.edu	37	1	230903351	230903351	+	Frame_Shift_Del	DEL	G	G	-	rs3828126	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:230903350_230903350TG>T	uc001htz.1	+	4	713	c.600_600TG>T	c.(598-600)actfs	p.T200fs	CAPN9_uc009xfg.1_Frame_Shift_Del_p.T137fs|CAPN9_uc001hua.1_Frame_Shift_Del_p.T200fs	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	200	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AAGACTTCACTGGGGGTGTGG	0.552												
HEATR1	55127	broad.mit.edu	37	1	236737616	236737616	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:236737615_236737615CA>C	uc001hyd.2	-	23	3498	c.3346_3346TG>G	c.(3346-3348)gcafs	p.A1116fs	HEATR1_uc009xgh.2_Frame_Shift_Del_p.A278fs	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1116					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GATATGGCTGCAAAAAATGGT	0.343												
EXO1	9156	broad.mit.edu	37	1	242042268	242042269	+	Frame_Shift_Del	DEL	AC	AC	-	rs138859903		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr1:242042267_242042268AAC>A	uc021plj.1	+	10	2045_2046	c.1731_1732AAC>A	c.(1729-1734)gcaacafs	p.A577fs	EXO1_uc001hzh.3_Frame_Shift_Del_p.A577fs|EXO1_uc009xgq.3_Frame_Shift_Del_p.A576fs|EXO1_uc021plk.1_Frame_Shift_Del_p.A577fs	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	577					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)			CAGACAAGGCAACAGTGTTTAC	0.406								Editing and processing nucleases				
RAD51AP2	729475	broad.mit.edu	37	2	17698737	17698737	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:17698736_17698736GT>G	uc002rcl.1	-	0	971	c.947_947AC>C	c.(946-948)actfs	p.T316fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	316										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGCTTCTACAGTTTTTTTATC	0.328												
NCOA1	8648	broad.mit.edu	37	2	24991211	24991211	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:24991210_24991210AC>A	uc002rfk.3	+	20	4535	c.4276_4276AC>A	c.(4276-4278)accfs	p.T1426fs	NCOA1_uc010eye.3_3'UTR|NCOA1_uc002rfi.3_3'UTR|NCOA1_uc002rfj.3_3'UTR|NCOA1_uc002rfl.3_Frame_Shift_Del_p.T1425fs|NCOA1_uc010eyf.3_3'UTR	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1426									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)					AGGACCACAGACCCCCCAGGC	0.493			T	PAX3	alveolar rhadomyosarcoma							
MAPRE3	22924	broad.mit.edu	37	2	27248517	27248518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:27248516_27248517G>GC	uc002rhw.3	+	4	688_689	c.535_536G>GC	c.(535-537)gccfs	p.A179fs		NM_012326	NP_036458	Q9UPY8	MARE3_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 3 (MAPRE3), mRNA.	179					cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity	p.C182fs*16(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCAATGTGGCCCCCCCCTGC	0.564												
RHOQ	23433	broad.mit.edu	37	2	46808174	46808174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:46808173_46808173TA>T	uc002rva.3	+	4	888	c.569_569TA>T	c.(568-570)gtafs	p.V190fs	BC048424_uc002rvb.3_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	190					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAACACACTGTAAAAAAAAGA	0.368												
MSH6	2956	broad.mit.edu	37	2	48030640	48030641	+	Frame_Shift_Ins	INS	-	-	CC	rs63749866		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:48030639_48030640A>ACC	uc002rwd.4	+	4	3405_3406	c.3253_3254A>ACC	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			
FOXN2	3344	broad.mit.edu	37	2	48602092	48602092	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:48602091_48602091CA>C	uc002rwh.1	+	6	1120	c.805_805CA>C	c.(805-807)caafs	p.Q269fs		NM_002158	NP_002149	P32314	FOXN2_HUMAN	Homo sapiens forkhead box N2 (FOXN2), mRNA.	269					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|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			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			AACAGCATTGCAAAAAAAGAG	0.383												
RANBP2	5903	broad.mit.edu	37	2	109379723	109379723	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:109379722_109379722AC>A	uc002tem.4	+	19	2853	c.2727_2727AC>A	c.(2725-2727)ccafs	p.P909fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	909					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATAGGCTTCCACCCCAACAGC	0.423												
RANBP2	5903	broad.mit.edu	37	2	109380873	109380873	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:109380872_109380872CT>C	uc002tem.4	+	19	4003	c.3877_3877CT>C	c.(3877-3879)cttfs	p.L1293fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1293	RanBD1 1.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGAAGCAGCACTTTTTAAATG	0.413												
SPOPL	339745	broad.mit.edu	37	2	139318409	139318410	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:139318408_139318409G>GT	uc002tvh.3	+	7	1148_1149	c.748_749G>GT	c.(748-750)gttfs	p.V250fs		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	250	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AGACCCTGAAGTTTTTAAAGAA	0.332												
NEB	4703	broad.mit.edu	37	2	152410393	152410393	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:152410392_152410392CG>C	uc021vrb.1	-	96	14502	c.14473_14473CG>G	c.(14473-14475)gacfs	p.D4825fs	NEB_uc002txr.3_Frame_Shift_Del_p.D1291fs|NEB_uc002txu.3_Frame_Shift_Del_p.D6526fs|NEB_uc021vrc.1_Frame_Shift_Del_p.D6526fs|NEB_uc010fnx.3_Frame_Shift_Del_p.D4813fs|NEB_uc021vrd.1_Frame_Shift_Del_p.D4825fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4825					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	p.P4824P(1)		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)		ACTTGCAAGTCGGGGTGGCAA	0.547												
XIRP2	129446	broad.mit.edu	37	2	168106361	168106361	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:168106360_168106360GA>G	uc002udx.3	+	8	8547	c.8458_8458GA>G	c.(8458-8460)gaafs	p.E2820fs	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Del_p.E2645fs|XIRP2_uc010fpq.3_Frame_Shift_Del_p.E2598fs|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2645					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGAAGTGAAGAAAAAAATCA	0.398												
ITGA6	3655	broad.mit.edu	37	2	173335733	173335733	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:173335732_173335732CT>C	uc002uhp.1	+	4	877	c.674_674CT>C	c.(673-675)actfs	p.T225fs	ITGA6_uc010fqk.1_Frame_Shift_Del_p.T111fs|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Frame_Shift_Del_p.T225fs|ITGA6_uc010fql.2_Non-coding_Transcript	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	225					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AAGAATAACACTTTTTTTGAC	0.343												
TTN	7273	broad.mit.edu	37	2	179414065	179414069	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:179414064_179414068GCTTTT>G	uc021vsy.1	-	287	84806_84810	c.84581_84585AAAAGC>C	c.(84580-84585)aaaagcfs	p.K28194fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.K21889fs|TTN_uc021vta.1_Frame_Shift_Del_p.K21822fs|TTN_uc021vtb.1_Frame_Shift_Del_p.K21697fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29121							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCATCTTGTGCTTTTCTTTTCTCT	0.420												
ANKRD44	91526	broad.mit.edu	37	2	197860118	197860119	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:197860117_197860118A>AT	uc021vuj.1	-	25	3009_3010	c.2816_2817T>AT	c.(2815-2817)aatfs	p.N939fs	ANKRD44_uc002utz.4_Frame_Shift_Ins_p.N646fs|ANKRD44_uc021vuk.1_Frame_Shift_Ins_p.N914fs	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	939							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCAGTGCATTATTTTTTTCATT	0.351												
CASP8	841	broad.mit.edu	37	2	202149961	202149962	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:202149960_202149961CTG>C	uc002uxr.1	+	8	1433_1434	c.1224_1225CTG>C	c.(1222-1227)aactgtfs	p.N408fs	CASP8_uc002uxq.1_Frame_Shift_Del_p.N393fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.N425fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.N467fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.N393fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.N324fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	408					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGTGAATAACTGTGTTTCCTA	0.495										HNSCC(4;0.00038)		
SPAG16	79582	broad.mit.edu	37	2	214727284	214727284	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:214727283_214727283CA>C	uc002veq.3	+	10	1237	c.1145_1145CA>C	c.(1144-1146)ccafs	p.P382fs	SPAG16_uc010fuz.2_Frame_Shift_Del_p.P233fs|SPAG16_uc002ver.3_Frame_Shift_Del_p.P328fs|SPAG16_uc010zjk.2_Frame_Shift_Del_p.P288fs	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	382					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTGGGCCTTCCAAAATGCAAT	0.527												
SMARCAL1	50485	broad.mit.edu	37	2	217280119	217280119	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:217280118_217280118CA>C	uc002vgc.4	+	2	1021	c.691_691CA>C	c.(691-693)caafs	p.Q231fs	SMARCAL1_uc002vgd.4_Frame_Shift_Del_p.Q231fs|SMARCAL1_uc010fvg.3_Frame_Shift_Del_p.Q231fs	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	231					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GTCCTCAGTCCAAAAAGGAGT	0.498									Schimke Immuno-Osseous Dysplasia			
SPEG	10290	broad.mit.edu	37	2	220326765	220326765	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:220326764_220326764AC>A	uc010fwg.3	+	6	2601	c.2601_2601AC>A	c.(2599-2601)gcafs	p.A867fs	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Frame_Shift_Del_p.A75fs|SPEG_uc002vln.1_Frame_Shift_Del_p.A75fs|SPEG_uc002vlp.1_Frame_Shift_Del_p.A75fs|SPEG_uc002vlq.3_Frame_Shift_Del_p.A18fs	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	867					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)		GCTCCAAGGCACCCCCCACCT	0.652												
DGKD	8527	broad.mit.edu	37	2	234365952	234365952	+	Frame_Shift_Del	DEL	G	G	-	rs35538077		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:234365951_234365951TG>T	uc002vui.1	+	20	2569	c.2557_2557TG>T	c.(2557-2559)tggfs	p.W853fs	DGKD_uc002vuj.1_Frame_Shift_Del_p.W809fs|DGKD_uc010fyh.1_Frame_Shift_Del_p.W720fs|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	853					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTAC	0.577												
HDAC4	9759	broad.mit.edu	37	2	240066299	240066299	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr2:240066298_240066298CT>C	uc002vyk.4	-	7	1638	c.846_846AG>G	c.(844-846)aagfs	p.K282fs	HDAC4_uc010fyz.1_Frame_Shift_Del_p.K277fs|HDAC4_uc010zoa.1_Frame_Shift_Del_p.K277fs|HDAC4_uc010fza.2_Frame_Shift_Del_p.K282fs|HDAC4_uc010fyy.3_Frame_Shift_Del_p.K234fs|HDAC4_uc010znz.1_Frame_Shift_Del_p.K165fs|HDAC4_uc010fzb.1_Non-coding_Transcript	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	282	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	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCAACGGACGCTTTTTTAGAG	0.572												
ZNF385D	79750	broad.mit.edu	37	3	21478597	21478598	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:21478596_21478597C>CT	uc003cce.3	-	4	946_947	c.538_539G>AG	c.(538-540)agcfs	p.S180fs	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	180	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGTCGTTGGGCTTTTTTCCACT	0.475												
TTC21A	199223	broad.mit.edu	37	3	39177852	39177852	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:39177851_39177851AT>A	uc003cjc.2	+	22	3146	c.2969_2969AT>A	c.(2968-2970)aatfs	p.N990fs	TTC21A_uc011ayx.1_Frame_Shift_Del_p.N942fs|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc003cjf.2_Frame_Shift_Del_p.N111fs	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	990							binding	p.P989T(1)|p.P989Q(1)|p.P989K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATTTTAGACAATTTTTTGGTA	0.438												
SCAP	22937	broad.mit.edu	37	3	47458613	47458613	+	Splice_Site	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:47458612_47458612CT>C	uc003crh.1	-	18	3311	c.3056_splice	c.e18+1	p.R1019_splice	SCAP_uc011baz.1_Splice_Site_p.R763_splice|SCAP_uc003crg.2_Splice_Site_p.R626_splice	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	1019	Interaction with SREBF2 (By similarity).			R -> G (in Ref. 6; BAC11673).	cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCACGCTCACCTTTTGTCCAA	0.567												
ATRIP	84126	broad.mit.edu	37	3	48505451	48505452	+	In_Frame_Ins	INS	-	-	CTG			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:48505450_48505451C>CCTG	uc003ctf.1	+	9	1925_1926	c.1893_1894C>CCTG	c.(1891-1896)ctcctg>ctCCTGtg	p.631_632LL>LL	ATRIP_uc011bbj.1_In_Frame_Ins_p.504_505LL>LL|ATRIP_uc003ctg.1_In_Frame_Ins_p.631_632LL>LL|TREX1_uc010hjy.3_5'UTR|TREX1_uc003ctj.3_5'Flank|TREX1_uc010hjz.3_5'Flank|TREX1_uc003ctk.3_5'Flank|TREX1_uc010hka.3_5'Flank	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	631					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGGCTGCCTCCTGCTGCTGCT	0.550								Other conserved DNA damage response genes				
IL17RB	55540	broad.mit.edu	37	3	53890903	53890905	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:53890902_53890904TAAG>T	uc003dha.3	+	6	600_602	c.561_563TAAG>T	c.(559-564)tgtaag>tgTg	p.K189del		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	189					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TCACTGCTTGTAAGAAGAATGAG	0.468												
MORC1	27136	broad.mit.edu	37	3	108818240	108818240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:108818239_108818239GA>G	uc003dxl.3	-	5	476	c.389_389TC>C	c.(388-390)tctfs	p.S130fs	MORC1_uc011bhn.2_Frame_Shift_Del_p.S130fs	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	130					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GAATGTCTGAGAAAAAAACAC	0.358												
MYLK	4638	broad.mit.edu	37	3	123376260	123376260	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:123376259_123376259TG>T	uc003ego.3	-	23	4284	c.4002_4002CA>A	c.(4000-4002)ccafs	p.P1334fs	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Frame_Shift_Del_p.P134fs|MYLK_uc011bjw.2_Frame_Shift_Del_p.P1334fs|MYLK_uc003egp.3_Frame_Shift_Del_p.P1265fs|MYLK_uc003egq.3_Frame_Shift_Del_p.P1334fs|MYLK_uc003egr.3_Frame_Shift_Del_p.P1265fs|MYLK_uc003egs.3_Frame_Shift_Del_p.P1158fs	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1334	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTGTGCCAGCTGGGGGGTCTG	0.527												
TF	7018	broad.mit.edu	37	3	133494278	133494278	+	Splice_Site	DEL	A	A	-	rs145306578		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:133494277_133494277GA>G	uc003epu.2	+	20	3416	c.1688_splice	c.e20-1	p.G563_splice	TF_uc011blt.2_Splice_Site_p.G436_splice|TF_uc003epw.2_Intron|TF_uc003epv.2_Splice_Site_p.G563_splice	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	563	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.G563E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CTGTCCCTAGGAAAAAACCCT	0.512												
DZIP1L	199221	broad.mit.edu	37	3	137811279	137811279	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:137811278_137811278AT>A	uc003erq.3	-	4	1180	c.817_817AT>T	c.(817-819)ttafs	p.L273fs	DZIP1L_uc003err.1_Frame_Shift_Del_p.L273fs	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	273						intracellular	zinc ion binding	p.K272Q(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCCCAAAATAATTTTTTTAGT	0.338												
RBP2	5948	broad.mit.edu	37	3	139173634	139173635	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:139173633_139173634G>GCA	uc003eth.3	-	2	342_343	c.291_292C>TGC	c.(289-294)gtgcaafs	p.V97fs		NM_004164	NP_004155	P50120	RET2_HUMAN	Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	97					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TCCCCCTTTTGCACACACACAA	0.510												
CHST2	9435	broad.mit.edu	37	3	142840276	142840276	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:142840275_142840275CG>C	uc003evm.3	+	1	1556	c.617_617CG>C	c.(616-618)ccgfs	p.P206fs	CHST2_uc021xex.1_Frame_Shift_Del_p.P206fs	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	206					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						AAACTGTATCCGGGGGACGCC	0.597												
BCHE	590	broad.mit.edu	37	3	165548196	165548196	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:165548195_165548195AT>A	uc003fem.4	-	1	787	c.627_627AT>T	c.(625-627)aatfs	p.N209fs	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	209					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	p.N209Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					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)	AGGCTGCTATATTTTTTTGAA	0.453												
SERPINI1	5274	broad.mit.edu	37	3	167507159	167507159	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:167507158_167507158TA>T	uc003ffa.4	+	1	440	c.242_242TA>T	c.(241-243)ctafs	p.L81fs	SERPINI1_uc003ffb.4_Frame_Shift_Del_p.L81fs	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	81					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.L81Q(2)|p.S80I(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TATGACAGCCTAAAAAATGGT	0.388												
FNDC3B	64778	broad.mit.edu	37	3	172070675	172070676	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:172070674_172070675ACT>A	uc003fhy.3	+	21	2768_2769	c.2596_2597ACT>A	c.(2596-2598)actfs	p.T866fs	FNDC3B_uc003fhz.4_Frame_Shift_Del_p.T866fs	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	866	Fibronectin type-III 7.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	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)		CCCCGTCTCCACTCTCTGTGTC	0.559												
LPP	4026	broad.mit.edu	37	3	188327441	188327442	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr3:188327440_188327441T>TG	uc003frs.2	+	5	1167_1168	c.921_922T>TG	c.(919-924)tatgggfs	p.Y307fs	LPP_uc011bsg.2_Intron|LPP_uc011bsi.2_Frame_Shift_Ins_p.Y307fs|LPP_uc003frt.3_Frame_Shift_Ins_p.Y307fs|LPP_uc011bsj.2_Frame_Shift_Ins_p.Y144fs	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	307	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.G308R(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GGCCAGGCTATGGGGGCAGAAA	0.559			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""							
SLC30A9	10463	broad.mit.edu	37	4	42041027	42041027	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:42041026_42041026GT>G	uc003gwl.3	+	7	839	c.693_693GT>G	c.(691-693)gtgfs	p.V231fs	SLC30A9_uc011byx.2_5'UTR	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	231					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGCATCAGTGTTTTTTAAGG	0.338												
RRH	10692	broad.mit.edu	37	4	110756541	110756542	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:110756540_110756541A>AT	uc003hzv.3	+	2	350_351	c.316_317A>AT	c.(316-318)attfs	p.I106fs		NM_006583	NP_006574	O14718	OPSX_HUMAN	Homo sapiens retinal pigment epithelium-derived rhodopsin homolog (RRH), mRNA.	106					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TGGATTGAATATTTTTTTTGGA	0.391												
ANK2	287	broad.mit.edu	37	4	114274959	114274959	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:114274958_114274958TA>T	uc003ibe.4	+	37	5284	c.5184_5184TA>T	c.(5182-5184)cttfs	p.L1728fs	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.L1743fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1695					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGCTGAACTTAAAAAAGGTA	0.413												
SH3D19	152503	broad.mit.edu	37	4	152069114	152069114	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:152069113_152069113AG>A	uc010ipl.1	-	10	2293	c.1203_1203CT>T	c.(1201-1203)cctfs	p.P401fs	SH3D19_uc003imb.2_Frame_Shift_Del_p.P179fs|SH3D19_uc003imc.2_Frame_Shift_Del_p.P365fs|SH3D19_uc003ime.2_Frame_Shift_Del_p.P401fs|SH3D19_uc010ipm.2_Frame_Shift_Del_p.P401fs	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	401					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GTTTGGGACGAGGGGGTAGCA	0.393												
PLRG1	5356	broad.mit.edu	37	4	155468219	155468219	+	Splice_Site	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:155468218_155468218TA>T	uc003iny.3	-	4	385	c.260_splice	c.e4-1	p.G87_splice	PLRG1_uc003inz.3_Splice_Site_p.G87_splice|PLRG1_uc011cil.2_Splice_Site	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	87						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CTTCTTGTCCTAAAAAAACAC	0.308												
SH3RF1	57630	broad.mit.edu	37	4	170057635	170057635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr4:170057634_170057634CT>C	uc003isa.1	-	4	1238	c.903_903AG>G	c.(901-903)aagfs	p.K301fs	SH3RF1_uc010irc.1_Frame_Shift_Del_p.A24fs	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	301						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		AGGAGTGCCGCTTTTTGGTGT	0.582												
ZFR	51663	broad.mit.edu	37	5	32355893	32355893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:32355892_32355892CT>C	uc003jhr.1	-	19	3279	c.3199_3199AG>G	c.(3199-3201)gacfs	p.D1067fs	ZFR_uc010ium.1_Frame_Shift_Del_p.D198fs|ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	1067					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCTTTTTTGTCTTTTTTCCCC	0.343												
HCN1	348980	broad.mit.edu	37	5	45262402	45262402	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:45262401_45262401AT>A	uc003jok.3	-	7	2320	c.2295_2295AT>T	c.(2293-2295)aatfs	p.N765fs		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	765						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTGCACTTCATTTTTCGGCG	0.652												
PTCD2	79810	broad.mit.edu	37	5	71648518	71648518	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:71648517_71648517TA>T	uc003kcb.3	+	8	888	c.878_878TA>T	c.(877-879)ctafs	p.L293fs	PTCD2_uc011csf.1_Frame_Shift_Del_p.L103fs|PTCD2_uc003kcc.3_Frame_Shift_Del_p.L141fs|PTCD2_uc011csg.2_Frame_Shift_Del_p.L121fs|PTCD2_uc011csh.2_Frame_Shift_Del_p.L184fs|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	293										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		ATAAAGACTCTAAAAAATGCT	0.343												
VCAN	1462	broad.mit.edu	37	5	82833368	82833368	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:82833367_82833367CA>C	uc003kii.3	+	7	4901	c.4545_4545CA>C	c.(4543-4545)gccfs	p.A1515fs	VCAN_uc003kij.3_Frame_Shift_Del_p.A528fs|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Frame_Shift_Del_p.A179fs	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1515	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.T1514T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		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)		GTGGAACAGCCAAAAAAGGGG	0.448												
CEP120	153241	broad.mit.edu	37	5	122713213	122713213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	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												
CSNK1G3	1456	broad.mit.edu	37	5	122926182	122926182	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:122926181_122926181CT>C	uc003ktm.3	+	8	1638	c.919_919CT>C	c.(919-921)cttfs	p.L307fs	CSNK1G3_uc003ktl.3_Frame_Shift_Del_p.L307fs|CSNK1G3_uc003ktn.3_Frame_Shift_Del_p.L307fs|CSNK1G3_uc003kto.3_Frame_Shift_Del_p.L307fs|CSNK1G3_uc011cwr.2_Frame_Shift_Del_p.L232fs|CSNK1G3_uc011cws.2_Frame_Shift_Del_p.L195fs|CSNK1G3_uc010jda.3_Frame_Shift_Del_p.L308fs	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	307	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		CTTAAGAAAGCTTTTTACTGA	0.264												
ZNF608	57507	broad.mit.edu	37	5	123984684	123984684	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:123984683_123984683GC>G	uc003ktq.1	-	3	1577	c.1394_1394GC>C	c.(1393-1395)gccfs	p.A465fs	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.A465fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.A465fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	465						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		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)		TTTCCCATTGGCCCCCCCTCT	0.627												
PHAX	51808	broad.mit.edu	37	5	125939712	125939713	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:125939711_125939712C>CA	uc003kua.2	+	1	594_595	c.546_547C>CA	c.(544-549)ggcaaafs	p.G182fs		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	Homo sapiens phosphorylated adaptor for RNA export (PHAX), mRNA.	182	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						TGCATGGTGGCAAAAAAATGGG	0.401												
HSPA4	3308	broad.mit.edu	37	5	132439995	132439995	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:132439994_132439994CA>C	uc003kyj.3	+	18	2670	c.2389_2389CA>C	c.(2389-2391)caafs	p.Q797fs		NM_002154	NP_002145	P34932	HSP74_HUMAN	Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.	797					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAAAGAGGAACAAAAAAATGC	0.493												
CATSPER3	347732	broad.mit.edu	37	5	134305723	134305723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:134305722_134305722GT>G	uc003lag.3	+	1	278	c.192_192GT>G	c.(190-192)gcgfs	p.A64fs		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA.	64					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATCGAATGCGTTTTTTATGG	0.388												
CTNNA1	1495	broad.mit.edu	37	5	138260955	138260955	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:138260954_138260954GT>G	uc003ldh.3	+	12	1852	c.1757_1757GT>G	c.(1756-1758)cgtfs	p.R586fs	CTNNA1_uc011cyx.2_Frame_Shift_Del_p.R483fs|CTNNA1_uc011cyy.2_Frame_Shift_Del_p.R463fs|CTNNA1_uc003ldi.3_Frame_Shift_Del_p.R284fs|CTNNA1_uc003ldj.3_Frame_Shift_Del_p.R586fs|CTNNA1_uc003ldl.3_Frame_Shift_Del_p.R216fs	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	586					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCATGCCACGTTTTACTGAG	0.542												
PCDHB3	56132	broad.mit.edu	37	5	140480418	140480418	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140480417_140480417AG>A	uc003lio.3	+	0	184	c.184_184AG>A	c.(184-186)aggfs	p.R62fs	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	62	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A61T(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGGCCGCGAGGGGGGCCCA	0.502												
PCDHB12	56124	broad.mit.edu	37	5	140588576	140588576	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140588575_140588575CT>C	uc003liz.3	+	0	285	c.96_96CT>C	c.(94-96)aacfs	p.N32fs	PCDHB12_uc011dak.2_5'UTR	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	32					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACTGGGAACTTTTTGGTGA	0.537												
PCDHGC5	56097	broad.mit.edu	37	5	140798891	140798891	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:140798890_140798890CT>C	uc003lkn.2	+	0	1631	c.1464_1464CT>C	c.(1462-1464)tccfs	p.S488fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Frame_Shift_Del_p.S488fs|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	490	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTGTCTCCTACTCTCTCA	0.637												
ARAP3	64411	broad.mit.edu	37	5	141059689	141059689	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:141059688_141059688TC>T	uc003llm.3	-	1	444	c.366_366GA>A	c.(364-366)ggafs	p.G122fs	ARAP3_uc003lln.3_Frame_Shift_Del_p.G44fs|ARAP3_uc003llo.1_Frame_Shift_Del_p.G122fs	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	122	Pro-rich.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	p.G121V(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						ACACTCCTGGTCCCCCGAGGG	0.647												
PPARGC1B	133522	broad.mit.edu	37	5	149206386	149206386	+	Frame_Shift_Del	DEL	C	C	-	rs147140005		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:149206385_149206385AC>A	uc003lrc.3	+	2	493	c.402_402AC>A	c.(400-402)gcafs	p.A134fs	PPARGC1B_uc003lrb.2_Frame_Shift_Del_p.A134fs|PPARGC1B_uc003lrd.3_Frame_Shift_Del_p.A134fs|PPARGC1B_uc021yfr.1_Frame_Shift_Del_p.A109fs|PPARGC1B_uc003lre.1_Frame_Shift_Del_p.A113fs|PPARGC1B_uc003lrf.3_Frame_Shift_Del_p.A113fs	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	134					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCTCATCTGCACCCCCCAGCC	0.617												
NSD1	64324	broad.mit.edu	37	5	176700715	176700715	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:176700714_176700714CA>C	uc003mfr.4	+	16	5689	c.5551_5551CA>C	c.(5551-5553)caafs	p.Q1851fs	NSD1_uc003mft.4_Frame_Shift_Del_p.Q1582fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.Q1748fs|NSD1_uc011dfx.2_Frame_Shift_Del_p.Q1499fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1851					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATTAAAGGCCCAAAAAGAGCT	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)		
ZNF354A	6940	broad.mit.edu	37	5	178140425	178140425	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr5:178140424_178140424AT>A	uc003mjj.3	-	4	653	c.455_455AT>T	c.(454-456)atcfs	p.I152fs		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	152					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TATAGTGGGGATTTTTTTGTG	0.358												
JARID2	3720	broad.mit.edu	37	6	15496636	15496637	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:15496635_15496636C>CG	uc003nbj.3	+	6	1423_1424	c.1179_1180C>CG	c.(1177-1182)ctcgggfs	p.L393fs	JARID2_uc011diu.1_Frame_Shift_Ins_p.L257fs|JARID2_uc011div.2_Frame_Shift_Ins_p.L221fs|JARID2_uc011diw.1_Frame_Shift_Ins_p.L355fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	393					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.L393L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGCTATCCCTCGGGGGGGCGTC	0.574												
DCDC2	51473	broad.mit.edu	37	6	24301971	24301971	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:24301970_24301970AT>A	uc003ndx.3	-	3	832	c.530_530AT>T	c.(529-531)atcfs	p.I177fs	DCDC2_uc003ndy.3_Frame_Shift_Del_p.I177fs	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	177	Doublecortin 2.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCTCAGAGTGATTTTTTCTGT	0.438												
TRIM31	11074	broad.mit.edu	37	6	30078384	30078386	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:30078383_30078385TCTC>T	uc003npg.1	-	3	694_696	c.584_586GAGA>A	c.(583-588)gagaag>gAag	p.K196del	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	196						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						AGGAAATTCTTCTCCTCCTCTAG	0.493												
SLC44A4	80736	broad.mit.edu	37	6	31833125	31833125	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:31833124_31833124AT>A	uc010jti.3	-	16	1794	c.1728_1728AT>T	c.(1726-1728)aatfs	p.N576fs	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Frame_Shift_Del_p.N500fs|SLC44A4_uc011dom.2_Frame_Shift_Del_p.N534fs	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	576						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GCATGAACGCATTTTTGGCTG	0.567												
EGFL8	80864	broad.mit.edu	37	6	32134319	32134321	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:32134318_32134320TACA>T	uc003oab.1	+	2	252_254	c.145_147TACA>T	c.(145-147)tac>T	p.Y49del	EGFL8_uc003nzy.2_Non-coding_Transcript|PPT2_uc010jtu.1_3'UTR|EGFL8_uc003oac.1_In_Frame_Del_p.Y49del	NM_030652	NP_085155	Q99944	EGFL8_HUMAN	Homo sapiens EGF-like-domain, multiple 8 (EGFL8), transcript variant 1, mRNA.	49	EMI.					extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CCCGCTCCACTACAACGAGTCCT	0.606												
B3GALT4	8705	broad.mit.edu	37	6	33245916	33245917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:33245915_33245916C>CG	uc003odr.3	+	0	999_1000	c.719_720C>CG	c.(718-720)ccgfs	p.P240fs		NM_003782	NP_003773	O96024	B3GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (B3GALT4), mRNA.	240					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|ganglioside galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TCTCGGACACCGGGGGGCAGGC	0.644												
BRPF3	27154	broad.mit.edu	37	6	36168884	36168887	+	Frame_Shift_Del	DEL	CTCC	CTCC	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:36168883_36168886TCTCC>T	uc003olv.4	+	1	1008_1011	c.784_787TCTCC>T	c.(784-789)tctcccfs	p.S262fs	BRPF3_uc010jwb.3_Frame_Shift_Del_p.S262fs|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Frame_Shift_Del_p.S262fs	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	262					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTGCCTGCAGTCTCCCTCCCGGCC	0.578												
TBC1D22B	55633	broad.mit.edu	37	6	37250063	37250063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:37250062_37250062GC>G	uc003onn.3	+	3	669	c.523_523GC>G	c.(523-525)gccfs	p.A175fs	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	175						intracellular	Rab GTPase activator activity	p.A175P(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CGCTTCTGGGGCCCCCCCAAT	0.572												
FOXP4	116113	broad.mit.edu	37	6	41555186	41555186	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:41555185_41555185AC>A	uc003oql.3	+	6	1265	c.807_807AC>A	c.(805-807)tcafs	p.S269fs	FOXP4_uc003oqm.3_Frame_Shift_Del_p.S267fs|FOXP4_uc003oqn.3_Frame_Shift_Del_p.S268fs	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	269					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAAGGTCTCACCCCCCCTCT	0.677											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
FOXP4	116113	broad.mit.edu	37	6	41557781	41557781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:41557780_41557780AC>A	uc003oql.3	+	10	1687	c.1229_1229AC>A	c.(1228-1230)cacfs	p.H410fs	FOXP4_uc003oqm.3_Frame_Shift_Del_p.H408fs|FOXP4_uc003oqn.3_Frame_Shift_Del_p.H397fs	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	410					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GGTCTCGTGCACCCCCCGACC	0.677												
RUNX2	860	broad.mit.edu	37	6	45390355	45390355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:45390354_45390354GC>G	uc011dvx.2	+	2	293	c.83_83GC>G	c.(82-84)agcfs	p.S28fs	RUNX2_uc011dvy.2_Frame_Shift_Del_p.S28fs|RUNX2_uc003oxt.3_Frame_Shift_Del_p.S14fs	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	28					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			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGCGCTTCAGCCCCCCCTCC	0.647												
DST	667	broad.mit.edu	37	6	56434717	56434717	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:56434716_56434716CT>C	uc003pcy.4	-	34	6055	c.5947_5947AG>G	c.(5947-5949)gttfs	p.V1983fs		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	4395					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	p.E1983Q(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACAATGGGAACTTTTTTTGTT	0.333												
LCA5	167691	broad.mit.edu	37	6	80228605	80228605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:80228604_80228604TC>T	uc003piy.3	-	2	620	c.8_8GA>A	c.(7-9)gaafs	p.E3fs	LCA5_uc003pix.3_Frame_Shift_Del_p.E3fs|LCA5_uc011dyr.2_Frame_Shift_Del_p.E3fs	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	3					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCCTGCTCTTTCCCCCATTGT	0.383												
SLC22A16	85413	broad.mit.edu	37	6	110763711	110763711	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:110763710_110763710AT>A	uc003puf.3	-	3	987	c.920_920AT>T	c.(919-921)atafs	p.I307fs	SLC22A16_uc003pue.3_Frame_Shift_Del_p.I288fs	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	307					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GATGTCAACTATTTTTTGTGC	0.473												
REV3L	5980	broad.mit.edu	37	6	111656711	111656711	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:111656710_111656710CA>C	uc003puy.4	-	21	7983	c.7642_7642TG>G	c.(7642-7644)ggcfs	p.G2548fs	REV3L_uc003pux.4_Frame_Shift_Del_p.G2470fs|REV3L_uc003puz.4_Frame_Shift_Del_p.G2470fs|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	2548					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)		AACTGAATGCCAAAAAGTCTA	0.408								DNA polymerases (catalytic subunits)				
FAM26E	254228	broad.mit.edu	37	6	116836954	116836955	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:116836953_116836954G>GT	uc003pwy.3	+	1	783_784	c.731_732G>GT	c.(730-732)tgtfs	p.C244fs	BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	244						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		AACCTGAAATGTTTTTTTGAAA	0.460												
PHACTR2	9749	broad.mit.edu	37	6	144086746	144086746	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:144086745_144086745GC>G	uc010khi.3	+	5	1241	c.1042_1042GC>G	c.(1042-1044)gccfs	p.A348fs	PHACTR2_uc003qjq.4_Frame_Shift_Del_p.A337fs|PHACTR2_uc010khh.3_Frame_Shift_Del_p.A257fs|PHACTR2_uc003qjr.4_Frame_Shift_Del_p.A268fs	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	337							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TTCTCCTCTGGCCCCCCCTCT	0.587												
STXBP5	134957	broad.mit.edu	37	6	147648266	147648266	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:147648265_147648265GT>G	uc003qlz.3	+	17	2108	c.1933_1933GT>G	c.(1933-1935)gttfs	p.V645fs	STXBP5_uc010khz.2_Frame_Shift_Del_p.V645fs|STXBP5_uc003qly.3_Frame_Shift_Del_p.V316fs|STXBP5_uc003qma.3_5'UTR	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	645					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCCCAGGGTGGTTTTTGGCAA	0.388												
T	6862	broad.mit.edu	37	6	166580151	166580151	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:166580150_166580150GC>G	uc003qut.1	-	1	687	c.401_401GC>C	c.(400-402)gccfs	p.A134fs	T_uc003quu.1_Frame_Shift_Del_p.A134fs|T_uc003quv.1_Frame_Shift_Del_p.A134fs	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	134					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.A134G(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CATCCAGTGGGCCCCGAAGTT	0.657									Chordoma, Familial Clustering of			
MLLT4	4301	broad.mit.edu	37	6	168315898	168315899	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr6:168315897_168315898CAG>C	uc021zik.1	+	17	2524_2525	c.2205_2206CAG>C	c.(2203-2208)tgcagafs	p.C735fs	MLLT4_uc003qwb.1_Frame_Shift_Del_p.C760fs|MLLT4_uc003qwc.2_Frame_Shift_Del_p.C776fs|MLLT4_uc021zij.1_Frame_Shift_Del_p.C760fs|MLLT4_uc021zim.1_Frame_Shift_Del_p.C322fs|MLLT4_uc003qwg.1_Frame_Shift_Del_p.C85fs	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	776	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TACGACGCTGCAGAGTCAATGC	0.535			T	MLL	AL							
POLD2	5425	broad.mit.edu	37	7	44155802	44155802	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:44155801_44155801AG>A	uc010kxz.3	-	8	1582	c.932_932CT>T	c.(931-933)ctcfs	p.L311fs	POLD2_uc010kya.3_Frame_Shift_Del_p.L311fs|POLD2_uc003tkf.4_Frame_Shift_Del_p.L311fs	NM_006230	NP_006221	P49005	DPOD2_HUMAN	Homo sapiens polymerase (DNA directed), delta 2, regulatory subunit 50kDa (POLD2), transcript variant 2, mRNA.	311					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GCAGGGGTGGAGGGGCTGCTG	0.632												
CROT	54677	broad.mit.edu	37	7	86978480	86978480	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:86978479_86978479TA>T	uc003uiu.3	+	2	340	c.95_95TA>T	c.(94-96)ttafs	p.L32fs	CROT_uc003uis.3_Frame_Shift_Del_p.L32fs|CROT_uc003uit.3_Frame_Shift_Del_p.L32fs	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	32					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAAGAATCATTAAAAAAATAC	0.318												
SAMD9L	219285	broad.mit.edu	37	7	92761061	92761062	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:92761060_92761061G>GT	uc003umh.1	-	4	5440_5441	c.4224_4225C>AC	c.(4222-4227)aaacaafs	p.K1408fs	SAMD9L_uc003umj.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc003umi.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfb.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc003umk.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfc.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfd.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc022ahh.1_Frame_Shift_Ins_p.K1408fs	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1408										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTCGGAGTTGTTTTTTTAGCG	0.406												
MET	4233	broad.mit.edu	37	7	116422111	116422111	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:116422110_116422110CA>C	uc003vij.3	+	17	3778	c.3591_3591CA>C	c.(3589-3591)agcfs	p.S1197fs	MET_uc010lkh.3_Frame_Shift_Del_p.S1215fs|MET_uc011knj.2_Frame_Shift_Del_p.S767fs	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1197	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATCTTGCAAGCAAAAAGTTTG	0.383			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)			
GRM8	2918	broad.mit.edu	37	7	126173278	126173278	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:126173277_126173277TG>T	uc003vlr.2	-	7	2470	c.2159_2159CA>A	c.(2158-2160)cacfs	p.H720fs	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Frame_Shift_Del_p.H720fs|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	720					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AATGATGATGTGGGGGGGATC	0.502										HNSCC(24;0.065)		
ZNF212	7988	broad.mit.edu	37	7	148947624	148947624	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:148947623_148947623AG>A	uc003wfp.3	+	1	526	c.398_398AG>A	c.(397-399)aagfs	p.K133fs		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CCGGGCAGCAAGGGGGAGGCC	0.567												
KCNH2	3757	broad.mit.edu	37	7	150656679	150656679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr7:150656678_150656678TG>T	uc003wic.3	-	2	855	c.454_454CA>A	c.(454-456)accfs	p.T152fs	KCNH2_uc011kux.2_Frame_Shift_Del_p.T56fs|KCNH2_uc003wie.3_Frame_Shift_Del_p.T152fs	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	152					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.T152fs*180(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGCCAGCTGGTGGGGGGGCCC	0.592												
KIAA1967	57805	broad.mit.edu	37	8	22472975	22472975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	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												
ESCO2	157570	broad.mit.edu	37	8	27645493	27645493	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:27645492_27645492TA>T	uc003xgg.3	+	5	1187	c.1104_1104TA>T	c.(1102-1104)agtfs	p.S368fs	ESCO2_uc010luy.1_Non-coding_Transcript	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	368					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GAGATACAAGTAAAAAAACAA	0.383									SC Phocomelia syndrome			
UNC5D	137970	broad.mit.edu	37	8	35583980	35583981	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:35583979_35583980C>CA	uc003xjr.2	+	9	1941_1942	c.1613_1614C>CA	c.(1612-1614)acafs	p.T538fs	UNC5D_uc003xjs.2_Frame_Shift_Ins_p.T533fs|UNC5D_uc003xju.2_Frame_Shift_Ins_p.T114fs|UNC5D_uc003xjt.1_Frame_Shift_Ins_p.T296fs	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	538					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCACTCCCCACAAGGACAGAAC	0.446												
CHD7	55636	broad.mit.edu	37	8	61765669	61765669	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:61765668_61765668TA>T	uc003xue.3	+	30	6876	c.6384_6384TA>T	c.(6382-6384)catfs	p.H2128fs	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2128					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGGATGCACATAAAAACTTTG	0.483												
CA2	760	broad.mit.edu	37	8	86386635	86386635	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:86386634_86386634AT>A	uc003ydk.2	+	3	613	c.433_433AT>A	c.(433-435)attfs	p.I145fs		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	145					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CGTTCTAGGTATTTTTTTGAA	0.388												
FBXO43	286151	broad.mit.edu	37	8	101154029	101154029	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:101154028_101154028AT>A	uc003yjd.3	-	1	1190	c.454_454AT>T	c.(454-456)tgtfs	p.C152fs	FBXO43_uc003yje.3_Frame_Shift_Del_p.C118fs|FBXO43_uc010mbp.2_Frame_Shift_Del_p.C152fs	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	152					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CGAGGTAAACATTTTTTCCCA	0.343												
SLC30A8	169026	broad.mit.edu	37	8	118183307	118183308	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:118183306_118183307AAG>A	uc003yoh.3	+	6	1093_1094	c.863_864AAG>A	c.(862-864)aaafs	p.K288fs	SLC30A8_uc010mcz.3_Frame_Shift_Del_p.K239fs|SLC30A8_uc003yog.3_Frame_Shift_Del_p.K239fs|SLC30A8_uc011lia.2_Frame_Shift_Del_p.K239fs|SLC30A8_uc022bab.1_Frame_Shift_Del_p.K239fs	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	288					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGTGGTGTGAAAGAGCTTATTT	0.441												
SLA	6503	broad.mit.edu	37	8	134063100	134063100	+	Frame_Shift_Del	DEL	G	G	-	rs143198289		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:134063099_134063099CG>C	uc011ljd.2	-	1	321	c.243_243CG>G	c.(241-243)ccgfs	p.P81fs	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Frame_Shift_Del_p.P41fs|SLA_uc011lje.2_Frame_Shift_Del_p.P58fs|SLA_uc011ljf.2_5'UTR|SLA_uc011ljg.2_Frame_Shift_Del_p.P58fs|SLA_uc010mdy.1_Frame_Shift_Del_p.P41fs|SLA_uc010mdz.1_Frame_Shift_Del_p.P41fs|SLA_uc010mea.2_Non-coding_Transcript	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	41	SH3.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GGCGGAATATCGGGGGGCTGA	0.527												
EIF2C2	27161	broad.mit.edu	37	8	141557663	141557665	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:141557662_141557664GTTC>G	uc003yvn.3	-	12	1692_1694	c.1651_1653GAAC>C	c.(1651-1653)aac>C	p.N551del	EIF2C2_uc010meo.3_In_Frame_Del_p.N551del|EIF2C2_uc010men.3_In_Frame_Del_p.N474del	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	551	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			TCCTCTGCACGTTCTTCATCTGC	0.626												
SLC45A4	57210	broad.mit.edu	37	8	142229029	142229031	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:142229028_142229030AAAG>A	uc003ywd.1	-	3	864_866	c.556_558CTTT>T	c.(556-558)ttt>T	p.F186del	SLC45A4_uc003ywc.1_In_Frame_Del_p.F186del|SLC45A4_uc010meq.1_In_Frame_Del_p.F184del	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	237					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGATGGCGGCAAAGAAGAAGAGC	0.660												
MAPK15	225689	broad.mit.edu	37	8	144804319	144804319	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:144804318_144804318AG>A	uc003yzj.3	+	13	1573	c.1532_1532AG>A	c.(1531-1533)cagfs	p.Q511fs		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	511					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			CAGGGTGCCCAGGGGGGTGCC	0.667												
SLC39A4	55630	broad.mit.edu	37	8	145640283	145640283	+	Splice_Site	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr8:145640282_145640282TG>T	uc003zcq.3	-	5	905	c.805_splice	c.e5-1	p.V269_splice	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'UTR|SLC39A4_uc003zcp.3_Splice_Site_p.V244_splice	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	269						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGGCATACCTGGGGGGTGGC	0.672												
PTCH1	5727	broad.mit.edu	37	9	98209617	98209617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:98209616_98209616TG>T	uc004avk.4	-	22	4110	c.3922_3922CA>A	c.(3922-3924)agafs	p.R1308fs	PTCH1_uc010mrn.3_Frame_Shift_Del_p.R100fs|PTCH1_uc010mro.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrp.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrq.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avl.4_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avm.4_Frame_Shift_Del_p.R1307fs|PTCH1_uc010mrr.3_Frame_Shift_Del_p.R1242fs	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1308					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.R1308G(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGCCTTCTCTGGGGGGGTCC	0.662												
TSC1	7248	broad.mit.edu	37	9	135772951	135772951	+	Frame_Shift_Del	DEL	T	T	-	rs118203724		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr9:135772950_135772950GT>G	uc004cca.2	-	20	2907	c.2673_2673AC>C	c.(2671-2673)aacfs	p.N891fs	TSC1_uc004ccb.3_Frame_Shift_Del_p.N890fs|TSC1_uc011mcq.1_Frame_Shift_Del_p.N840fs|TSC1_uc011mcr.2_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	891					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CATGGCTTCTGTTTTTTTCTA	0.378			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis			
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAG	0.353												
KIAA1217	56243	broad.mit.edu	37	10	24820809	24820809	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:24820808_24820808GC>G	uc001iru.4	+	14	3535	c.3132_3132GC>G	c.(3130-3132)tcgfs	p.S1044fs	KIAA1217_uc001irs.3_Frame_Shift_Del_p.S964fs|KIAA1217_uc001irt.4_Frame_Shift_Del_p.S1009fs|KIAA1217_uc010qcy.2_Frame_Shift_Del_p.S1008fs|KIAA1217_uc010qcz.2_Frame_Shift_Del_p.S1009fs|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Frame_Shift_Del_p.S727fs|KIAA1217_uc001irz.3_Frame_Shift_Del_p.S727fs|KIAA1217_uc001irx.3_Frame_Shift_Del_p.S727fs|KIAA1217_uc001iry.3_Frame_Shift_Del_p.S727fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1044					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGGGAAAGTCGCCCCCTCCTC	0.522												
GPR158	57512	broad.mit.edu	37	10	25886977	25886977	+	Frame_Shift_Del	DEL	A	A	-	rs150246697		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:25886976_25886976GA>G	uc001isj.3	+	10	2481	c.2421_2421GA>G	c.(2419-2421)ctgfs	p.L807fs	GPR158_uc001isk.3_Frame_Shift_Del_p.L182fs	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	807						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L807L(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGGAGACCCTGAAAAACCGAG	0.547												
MYO3A	53904	broad.mit.edu	37	10	26359089	26359090	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:26359088_26359089A>AT	uc001isn.2	+	12	1579_1580	c.1219_1220A>AT	c.(1219-1221)attfs	p.I407fs	MYO3A_uc009xko.1_Frame_Shift_Ins_p.I407fs|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Frame_Shift_Ins_p.I407fs	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	407	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCCTCCTCACATTTTTGCAATG	0.322												
C10orf68	79741	broad.mit.edu	37	10	32974953	32974953	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:32974952_32974952CA>C	uc001iwm.1	+	2	376	c.140_140CA>C	c.(139-141)tcafs	p.S47fs	C10orf68_uc001iwl.1_Frame_Shift_Del_p.S41fs|C10orf68_uc001iwn.4_Frame_Shift_Del_p.S33fs|C10orf68_uc010qei.1_5'UTR	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	33										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GAATCATTGTCAAAAACCAAA	0.279												
CUL2	8453	broad.mit.edu	37	10	35351916	35351916	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:35351915_35351915CA>C	uc010qer.2	-	2	356	c.252_252TG>G	c.(250-252)ttgfs	p.L84fs	CUL2_uc021ppa.1_Frame_Shift_Del_p.L78fs|CUL2_uc009xma.3_5'UTR|CUL2_uc001ixv.3_Frame_Shift_Del_p.L65fs|CUL2_uc001ixw.3_Frame_Shift_Del_p.L65fs|CUL2_uc010qes.2_Frame_Shift_Del_p.L65fs	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	65					G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.L65fs*10(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATGATTTTCCAAAAAAATCT	0.313												
ANKRD30A	91074	broad.mit.edu	37	10	37430790	37430791	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:37430789_37430790G>GA	uc021ppc.1	+	6	895_896	c.796_797G>GA	c.(796-798)gaafs	p.E266fs	ANKRD30A_uc001iza.1_Frame_Shift_Ins_p.E266fs	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	322						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGCTTGGTGGAAAAAACACCT	0.475												
ARID5B	84159	broad.mit.edu	37	10	63850705	63850705	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:63850704_63850704GA>G	uc001jlt.2	+	9	1938	c.1482_1482GA>G	c.(1480-1482)aagfs	p.K494fs	ARID5B_uc001jlu.2_Frame_Shift_Del_p.K251fs	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	494					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAGACATGAAGAAAAAAATAG	0.438												
DNAJC12	56521	broad.mit.edu	37	10	69565466	69565466	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:69565465_69565465AT>A	uc001jnb.3	-	3	546	c.378_378AT>T	c.(376-378)aatfs	p.N126fs	U6_uc021prq.1_5'Flank	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 12 (DNAJC12), transcript variant 1, mRNA.	126					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TACATTCCTCATTTTCCATCT	0.428												
DDX50	79009	broad.mit.edu	37	10	70666693	70666693	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:70666692_70666692GA>G	uc001jou.3	+	1	420	c.313_313GA>G	c.(313-315)gaafs	p.E105fs	DDX50_uc001jot.3_Frame_Shift_Del_p.E105fs	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	105						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AGATGAATATGAAAAAAAATC	0.308												
DDX50	79009	broad.mit.edu	37	10	70670982	70670982	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:70670981_70670981TA>T	uc001jou.3	+	3	725	c.618_618TA>T	c.(616-618)attfs	p.I206fs	DDX50_uc001jot.3_Frame_Shift_Del_p.I206fs	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	206	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAGAAACAATTAAAAAAAGCC	0.368												
LRRC20	55222	broad.mit.edu	37	10	72061118	72061119	+	Frame_Shift_Ins	INS	-	-	G	rs149973737	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:72061117_72061118A>AG	uc001jqx.1	-	4	769_770	c.547_548T>CT	c.(547-549)ctafs	p.L183fs	LRRC20_uc001jqy.1_Frame_Shift_Ins_p.L127fs|LRRC20_uc001jqz.1_Frame_Shift_Ins_p.L133fs	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA.	183								p.L183fs*>3(2)|p.P182H(1)		endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GGCCTAAGGTAGGGGGGCTCTT	0.658												
ADAMTS14	140766	broad.mit.edu	37	10	72493711	72493711	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:72493710_72493710GC>G	uc001jrg.3	+	7	1287	c.1287_1287GC>G	c.(1285-1287)gcgfs	p.A429fs	ADAMTS14_uc001jrh.3_Frame_Shift_Del_p.A426fs|ADAMTS14_uc001jri.1_5'Flank	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	426	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCGTCATGGCGCCCCTGGTGC	0.627												
NDST2	8509	broad.mit.edu	37	10	75567575	75567575	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:75567574_75567574TA>T	uc001jvk.2	-	2	1377	c.573_573TA>A	c.(571-573)ttafs	p.L191fs	NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Frame_Shift_Del_p.L68fs|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Frame_Shift_Del_p.L68fs	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	191	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L191fs*12(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGTTTGAGTGTAAAAAAAGGG	0.587												
DLG5	9231	broad.mit.edu	37	10	79581284	79581285	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:79581283_79581284T>TG	uc001jzk.3	-	14	3028_3029	c.2958_2959A>CA	c.(2956-2961)cccaaafs	p.P986fs	DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Frame_Shift_Ins_p.P590fs	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	986	Pro-rich.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TAGTCTATTTTGGGGGGTGTCT	0.559												
HTR7	3363	broad.mit.edu	37	10	92502258	92502258	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:92502257_92502257CT>C	uc001kha.3	-	3	1665	c.1422_1422AG>G	c.(1420-1422)aagfs	p.K474fs	HTR7_uc001kgz.3_Frame_Shift_Del_p.G442fs|HTR7_uc001khb.3_3'UTR	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	474					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GAATCATGACCTTTTTTTCTA	0.328												
ZDHHC16	84287	broad.mit.edu	37	10	99215505	99215507	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:99215504_99215506CAAG>C	uc001knj.3	+	9	1278_1280	c.912_914CAAG>C	c.(910-915)aacaag>aaCg	p.K306del	ZDHHC16_uc001knk.3_In_Frame_Del_p.K306del|ZDHHC16_uc001knl.3_In_Frame_Del_p.K290del|ZDHHC16_uc001knm.3_In_Frame_Del_p.K225del|ZDHHC16_uc001knn.3_In_Frame_Del_p.K267del|ZDHHC16_uc010qow.2_In_Frame_Del_p.K288del	NM_198046	NP_932163	Q969W1	ZDH16_HUMAN	Homo sapiens zinc finger, DHHC-type containing 16 (ZDHHC16), transcript variant 5, mRNA.	306					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GGCACATCAACAAGAAGGAGAGA	0.532												
SORCS1	114815	broad.mit.edu	37	10	108447970	108447971	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:108447969_108447970T>TC	uc001kyl.3	-	9	1722_1723	c.1540_1541A>GA	c.(1540-1542)gacfs	p.D514fs	SORCS1_uc021pxw.1_Frame_Shift_Ins_p.D514fs|SORCS1_uc009xxs.3_Frame_Shift_Ins_p.D514fs|SORCS1_uc001kym.3_Frame_Shift_Ins_p.D514fs|SORCS1_uc001kyn.2_Frame_Shift_Ins_p.D514fs|SORCS1_uc001kyo.3_Frame_Shift_Ins_p.D514fs	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	514						integral to membrane	neuropeptide receptor activity|protein binding	p.G513G(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTGCACGGGGTCCCCCCTTAGA	0.490												
ACSL5	51703	broad.mit.edu	37	10	114136115	114136117	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:114136114_114136116GGAA>G	uc001kzu.3	+	0	159_161	c.47_49GGAA>G	c.(46-51)gggaag>gGag	p.K18del	ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G16V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CACGAGCGAGGGAAGAAGGACAG	0.626												
BUB3	9184	broad.mit.edu	37	10	124921819	124921821	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:124921818_124921820CAGA>C	uc001lhe.2	+	5	885_887	c.643_645CAGA>C	c.(643-645)cag>C	p.Q215del	BUB3_uc009yah.2_In_Frame_Del_p.Q167del|BUB3_uc001lhf.4_In_Frame_Del_p.Q215del|BUB3_uc001lhd.2_In_Frame_Del_p.Q215del|BUB3_uc010qud.1_In_Frame_Del_p.Q135del	NM_004725	NP_004716	O43684	BUB3_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 3 homolog (yeast) (BUB3), transcript variant 1, mRNA.	215					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				CCCTGAGGTACAGAAGAAGAAGT	0.389												
C10orf137	26098	broad.mit.edu	37	10	127412385	127412385	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:127412384_127412384TA>T	uc001liq.1	+	3	682	c.389_389TA>T	c.(388-390)atafs	p.I130fs	C10orf137_uc001lin.3_Frame_Shift_Del_p.I130fs|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Frame_Shift_Del_p.I130fs	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTAAGAACATAAAAAAACTC	0.318												
MTG1	92170	broad.mit.edu	37	10	135211971	135211971	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr10:135211970_135211970TA>T	uc001lnd.3	+	3	418	c.314_314TA>T	c.(313-315)ctafs	p.L105fs	MTG1_uc010qve.2_Frame_Shift_Del_p.L21fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	105						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GGAGAAGGCCTAAAAAATGTC	0.408												
CTSD	1509	broad.mit.edu	37	11	1780830	1780831	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:1780829_1780830T>TG	uc001luc.2	-	2	401_402	c.268_269A>CA	c.(268-270)cagfs	p.Q90fs	MOB2_uc001ltq.2_Intron	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	90					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	p.Q90fs*50(2)		endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTGAAGCACTGGGGGGGCGTC	0.649												
DCHS1	8642	broad.mit.edu	37	11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-	rs143767864	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:6662141_6662141CG>C	uc001mem.1	-	1	1105	c.704_704CG>G	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587												
DENND5A	23258	broad.mit.edu	37	11	9171679	9171679	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:9171678_9171678CT>C	uc001mhl.3	-	14	2942	c.2685_2685AG>G	c.(2683-2685)aagfs	p.K895fs	DENND5A_uc001mhk.3_Frame_Shift_Del_p.K238fs|DENND5A_uc010rbw.2_Frame_Shift_Del_p.K895fs|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	895	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGAAAGTAACTTTTTTTCCA	0.517												
C11orf49	79096	broad.mit.edu	37	11	47074001	47074001	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:47074000_47074000AC>A	uc001ndr.3	+	2	317	c.211_211AC>A	c.(211-213)accfs	p.T71fs	C11orf49_uc001nds.3_Frame_Shift_Del_p.T71fs|C11orf49_uc001ndq.3_Frame_Shift_Del_p.T71fs|C11orf49_uc001ndp.3_Frame_Shift_Del_p.T71fs|C11orf49_uc010rgx.2_5'UTR|C11orf49_uc010rgy.2_Frame_Shift_Del_p.T62fs|C11orf49_uc010rgz.2_Intron	NM_001003677	NP_001003677	Q9H6J7	CK049_HUMAN	Homo sapiens chromosome 11 open reading frame 49 (C11orf49), transcript variant 2, mRNA.	71										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CGTCCAAGCCACCCCCCACAA	0.438												
NR1H3	10062	broad.mit.edu	37	11	47282887	47282888	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:47282886_47282887A>AC	uc009ylm.3	+	4	844_845	c.594_595A>AC	c.(592-597)tcacccfs	p.S198fs	NR1H3_uc010rhk.2_Frame_Shift_Ins_p.S204fs|NR1H3_uc009yll.2_Frame_Shift_Ins_p.S204fs|NR1H3_uc001nek.3_Frame_Shift_Ins_p.S153fs|NR1H3_uc001nen.4_Frame_Shift_Ins_p.S198fs|NR1H3_uc001nem.3_Frame_Shift_Ins_p.S198fs	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	198					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGGCTTCCTCACCCCCCCAAAT	0.594												
ZFP91	80829	broad.mit.edu	37	11	58377810	58377811	+	Splice_Site	INS	-	-	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:58377809_58377810T>TA	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)				TGGCATTAGGTAAAAAAAACAT	0.312												
GANAB	23193	broad.mit.edu	37	11	62407174	62407174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:62407173_62407173TA>T	uc001nua.3	-	1	102	c.69_69TA>A	c.(67-69)ttafs	p.L23fs	GANAB_uc001nub.3_Frame_Shift_Del_p.L23fs|GANAB_uc001nuc.3_5'UTR|GANAB_uc010rma.2_Intron|GANAB_uc010rmb.2_Intron	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	23					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GGCAGACCCCTAAAAAAGCCA	0.478												
PHLDB1	23187	broad.mit.edu	37	11	118509928	118509928	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr11:118509927_118509927AG>A	uc001ptr.2	+	12	3047	c.2694_2694AG>A	c.(2692-2694)acafs	p.T898fs	PHLDB1_uc001pts.3_Frame_Shift_Del_p.T898fs|PHLDB1_uc001ptt.3_Frame_Shift_Del_p.T898fs|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Frame_Shift_Del_p.T698fs|PHLDB1_uc001ptw.2_Frame_Shift_Del_p.T300fs|PHLDB1_uc009zai.2_5'UTR|PHLDB1_uc001ptx.2_5'UTR|PHLDB1_uc010ryi.1_5'Flank|PHLDB1_uc010ryj.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	898										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACTCACTCACAGGGGGCAGGC	0.567												
DYRK4	8798	broad.mit.edu	37	12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-	rs80196697		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:4719361_4719361GA>G	uc009zeh.1	+	12	1443	c.1401_1401GA>G	c.(1399-1401)gggfs	p.G467fs	DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	352						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G754G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACAACAGGGGGAAAAAAAGAT	0.393												
MAGOHB	55110	broad.mit.edu	37	12	10760484	10760484	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:10760483_10760483AT>A	uc001qyq.2	-	3	394	c.317_317AT>T	c.(316-318)atafs	p.I106fs	MAGOHB_uc001qyr.2_Non-coding_Transcript	NM_018048	NP_060518	Q96A72	MGN2_HUMAN	Homo sapiens mago-nashi homolog B (Drosophila) (MAGOHB), mRNA.	106					RNA splicing|mRNA processing|mRNA transport	nucleus	RNA binding			breast(2)|large_intestine(2)	4						AAGAGAACCTATTTTTGATGT	0.294												
ITPR2	3709	broad.mit.edu	37	12	26749901	26749901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:26749900_26749900AT>A	uc001rhg.3	-	30	4587	c.4170_4170AT>T	c.(4168-4170)aatfs	p.N1390fs		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1390					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGTGTAGACATTTTTCCCCT	0.527												
PPFIBP1	8496	broad.mit.edu	37	12	27813829	27813829	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:27813828_27813828CA>C	uc001ric.2	+	10	1293	c.916_916CA>C	c.(916-918)caafs	p.Q306fs	PPFIBP1_uc010sjr.1_Frame_Shift_Del_p.Q134fs|PPFIBP1_uc001rib.2_Frame_Shift_Del_p.Q286fs|PPFIBP1_uc001ria.3_Frame_Shift_Del_p.Q275fs|PPFIBP1_uc001rid.2_Frame_Shift_Del_p.Q153fs	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	306					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CATCGAAGTACAAAAAATGAA	0.323												
PRICKLE1	144165	broad.mit.edu	37	12	42853627	42853627	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:42853626_42853626AT>A	uc010skv.2	-	7	2768	c.2481_2481AT>T	c.(2479-2481)aatfs	p.N827fs	PRICKLE1_uc001rnl.3_Frame_Shift_Del_p.N827fs|PRICKLE1_uc010skw.2_Frame_Shift_Del_p.N827fs|PRICKLE1_uc001rnm.3_Frame_Shift_Del_p.N827fs|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	827					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AAATAATACAATTTTTGCCCT	0.398												
ARID2	196528	broad.mit.edu	37	12	46245318	46245318	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:46245317_46245317AG>A	uc001ros.1	+	14	3411	c.3411_3411AG>A	c.(3409-3411)tcafs	p.S1137fs	ARID2_uc001ror.3_Frame_Shift_Del_p.S1137fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.S593fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.S764fs|ARID2_uc001rou.1_Frame_Shift_Del_p.S471fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1137					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)		TGCCACCCTCAGGGGGAGTAC	0.512			"""N, S, F"""		hepatocellular carcinoma							
MLL2	8085	broad.mit.edu	37	12	49431874	49431874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:49431873_49431873AC>A	uc001rta.4	-	33	9266	c.9266_9266GT>T	c.(9265-9267)gtgfs	p.V3089fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3089					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.V2819fs*9(1)|p.V3089fs*9(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						TCCTGGCTCCACCCCCCGCAG	0.627			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
MLL2	8085	broad.mit.edu	37	12	49445526	49445526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:49445525_49445525TG>T	uc001rta.4	-	9	1941	c.1941_1941CA>A	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						ATACCTCAGGTGGGGGGGACA	0.632			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
KRT73	319101	broad.mit.edu	37	12	53004574	53004574	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:53004573_53004573TC>T	uc001sas.3	-	6	1192	c.1157_1157GA>A	c.(1156-1158)gacfs	p.D386fs		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	386	Coil 2.|Rod.					keratin filament	structural molecule activity	p.G385R(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGGGCACAGTCCCCCCGCTG	0.657												
OR9K2	441639	broad.mit.edu	37	12	55523807	55523808	+	Frame_Shift_Ins	INS	-	-	T	rs142523671		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:55523806_55523807A>AT	uc010spe.2	+	0	254_255	c.254_255A>AT	c.(253-255)tatfs	p.Y85fs		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ACACCAATGTATTTTTTCCTAG	0.386												
OR9K2	441639	broad.mit.edu	37	12	55524128	55524128	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:55524127_55524127CT>C	uc010spe.2	+	0	575	c.575_575CT>C	c.(574-576)tctfs	p.S192fs		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S192S(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TTTACTTTATCTTTTTGCGCT	0.413												
OR6C4	341418	broad.mit.edu	37	12	55945307	55945307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:55945306_55945306AT>A	uc010spp.2	+	0	296	c.296_296AT>A	c.(295-297)tatfs	p.Y99fs		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TTGACTCAGTATTTTTTTGCT	0.403												
MBD6	114785	broad.mit.edu	37	12	57919556	57919556	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57919555_57919555AC>A	uc001soj.1	+	5	1028	c.804_804AC>A	c.(802-804)acafs	p.T268fs	MBD6_uc001sok.1_Frame_Shift_Del_p.T135fs|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	268	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ATGCCTTAACACCCCCTCCCC	0.642												
MBD6	114785	broad.mit.edu	37	12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:57921400_57921400AC>A	uc001soj.1	+	7	2417	c.2193_2193AC>A	c.(2191-2193)agafs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAAC	0.602												
PPM1H	57460	broad.mit.edu	37	12	63195674	63195674	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:63195673_63195673TG>T	uc001srk.3	-	2	828	c.679_679CA>A	c.(679-681)acafs	p.T227fs		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	227	PP2C-like.						phosphoprotein phosphatase activity	p.T227fs*12(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AAGAAGCGTGTGGGGGGCGTG	0.642												
PTPRR	5801	broad.mit.edu	37	12	71286727	71286727	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:71286726_71286726CA>C	uc001swi.2	-	1	504	c.90_90TG>G	c.(88-90)ttgfs	p.L30fs		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	30					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GATTAATTGCCAAAAAATGAT	0.383												
BBS10	79738	broad.mit.edu	37	12	76739905	76739905	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:76739904_76739904AT>A	uc001syd.1	-	1	1945	c.1861_1861AT>T	c.(1861-1863)tgcfs	p.C621fs		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	621					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GATTGATGGCATTTTTTGGCA	0.358									Bardet-Biedl syndrome			
KIAA1033	23325	broad.mit.edu	37	12	105556575	105556575	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:105556574_105556574TA>T	uc010swr.2	+	29	3198	c.3111_3111TA>T	c.(3109-3111)aatfs	p.N1037fs	KIAA1033_uc001tld.3_Frame_Shift_Del_p.N1036fs|KIAA1033_uc010sws.2_Frame_Shift_Del_p.N848fs	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	1036					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						aaaaattaaataaaaaaaata	0.299												
TMEM132D	121256	broad.mit.edu	37	12	130184705	130184705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	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												
STX2	2054	broad.mit.edu	37	12	131283100	131283100	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr12:131283099_131283099CT>C	uc001uio.3	-	8	924	c.757_757AG>G	c.(757-759)gctfs	p.A253fs	STX2_uc001uip.3_Frame_Shift_Del_p.A253fs|STX2_uc010tbj.2_Frame_Shift_Del_p.A253fs	NM_194356	NP_919337	P32856	STX2_HUMAN	Homo sapiens syntaxin 2 (STX2), transcript variant 2, mRNA.	253	t-SNARE coiled-coil homology.				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	SNAP receptor activity|calcium-dependent protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TATTTGATAGCTTTTTTTGTT	0.338												
BRCA2	675	broad.mit.edu	37	13	32911322	32911323	+	Frame_Shift_Ins	INS	-	-	A	rs80359356		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:32911321_32911322T>TA	uc001uub.1	+	10	3056_3057	c.2829_2830T>TA	c.(2827-2832)attaaafs	p.I943fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	943	Interaction with NPM1.				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	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		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)		AAGTGTCAATTAAAAAAGATTT	0.347			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
PDS5B	23047	broad.mit.edu	37	13	33344286	33344286	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:33344285_33344285GA>G	uc010abf.3	+	31	3837	c.3651_3651GA>G	c.(3649-3651)aggfs	p.R1217fs	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	1217					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CTAGAGGCAGGAAAAAAACGC	0.388												
SPG20	23111	broad.mit.edu	37	13	36909272	36909273	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:36909271_36909272C>CA	uc001uvn.3	-	2	966_967	c.696_697G>TG	c.(694-699)tttgtafs	p.F232fs	SPG20_uc010ten.2_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvm.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvo.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvq.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvp.2_Frame_Shift_Ins_p.F232fs	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	232					cell death	cytoplasm	ubiquitin protein ligase binding	p.F231C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GCAGGATTTACAAAAAAAATCT	0.436												
DZIP1	22873	broad.mit.edu	37	13	96241464	96241464	+	Splice_Site	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:96241463_96241463TA>T	uc001vmk.3	-	19	2826	c.1974_splice	c.e19-1	p.K658_splice	DZIP1_uc001vmj.3_Splice_Site_p.K134_splice|DZIP1_uc001vml.3_Splice_Site_p.K639_splice	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	658					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCTTAATTCTAAAAAAACAA	0.279												
F7	2155	broad.mit.edu	37	13	113771113	113771114	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr13:113771112_113771113G>GA	uc001vsv.3	+	6	655_656	c.604_605G>GA	c.(604-606)gaafs	p.E202fs	F7_uc010agp.1_Frame_Shift_Ins_p.E195fs|F7_uc001vsw.3_Frame_Shift_Ins_p.E180fs|F7_uc010tjt.2_Frame_Shift_Ins_p.E133fs	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	202					anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	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;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	ACCTATTCTAGAAAAAAGAAAT	0.470												
OR4K5	79317	broad.mit.edu	37	14	20389294	20389294	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:20389293_20389293CT>C	uc010tkw.2	+	0	528	c.528_528CT>C	c.(526-528)agcfs	p.S176fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGTAGACAGCTTTTTTTGTG	0.418												
OSGEP	55644	broad.mit.edu	37	14	20915788	20915788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:20915787_20915787CA>C	uc001vxf.3	-	8	1281	c.856_856TG>G	c.(856-858)gctfs	p.A286fs		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.	286					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		TCATCTGTAGCAAAAAGCCGG	0.433												
PNN	5411	broad.mit.edu	37	14	39650339	39650344	+	In_Frame_Del	DEL	CCTCAG	CCTCAG	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:39650338_39650343ACCTCAG>A	uc001wuw.4	+	8	1522_1527	c.1425_1430ACCTCAG>A	c.(1423-1431)caacctcag>caAg	p.475_477QPQ>Q		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	475	Gln-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		CTGTGGCTcaacctcagcctcagtct	0.495												
FAM179B	23116	broad.mit.edu	37	14	45432122	45432122	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:45432121_45432121AG>A	uc001wvw.3	+	0	706	c.497_497AG>A	c.(496-498)cagfs	p.Q166fs	FAM179B_uc001wvv.3_Frame_Shift_Del_p.Q166fs|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Frame_Shift_Del_p.Q166fs|FAM179B_uc001wvu.3_Frame_Shift_Del_p.Q166fs	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	166							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTCCGGGGTCAGGGGGAGGCA	0.557												
C14orf149	112849	broad.mit.edu	37	14	59946072	59946072	+	Splice_Site	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333												
C14orf43	91748	broad.mit.edu	37	14	74206606	74206606	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:74206605_74206605TG>T	uc010tud.1	-	0	354	c.107_107CA>A	c.(106-108)cagfs	p.Q36fs	C14orf43_uc001xot.3_Frame_Shift_Del_p.Q36fs|C14orf43_uc001xou.3_Frame_Shift_Del_p.Q36fs|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GATGGACTGCTGGGGGGGCTG	0.667												
WDR20	91833	broad.mit.edu	37	14	102675067	102675068	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr14:102675066_102675067G>GC	uc010txu.2	+	3	724_725	c.652_653G>GC	c.(652-654)gccfs	p.A218fs	WDR20_uc001ylf.3_Frame_Shift_Ins_p.A199fs|WDR20_uc001ykz.3_Frame_Shift_Ins_p.A187fs|WDR20_uc001yky.2_Intron|WDR20_uc001yla.3_3'UTR|WDR20_uc001ylb.3_Frame_Shift_Ins_p.A126fs|WDR20_uc001ylc.3_Intron|WDR20_uc001yle.3_Frame_Shift_Ins_p.A126fs|WDR20_uc001yld.3_Frame_Shift_Ins_p.A187fs	NM_001242417	NP_001229346	Q8TBZ3	WDR20_HUMAN	Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA.	187										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGGCACCACAGCCCCCCACTAC	0.540												
ZSCAN29	146050	broad.mit.edu	37	15	43653444	43653445	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:43653443_43653444CCA>C	uc001zrk.1	-	4	2533_2534	c.2386_2387TGG>G	c.(2386-2388)ggafs	p.G796fs	ZSCAN29_uc001zrj.1_Frame_Shift_Del_p.G676fs|ZSCAN29_uc010bdg.1_Frame_Shift_Del_p.G406fs|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	796					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAAACTCTTTCCACAGTCAGGA	0.441												
HERC1	8925	broad.mit.edu	37	15	63922683	63922683	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:63922682_63922682TC>T	uc002amp.3	-	68	13097	c.12949_12949GA>A	c.(12949-12951)agcfs	p.S4317fs		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4317					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTGAATTGCTCCCCCAGGCA	0.438												
TBC1D2B	23102	broad.mit.edu	37	15	78317749	78317749	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:78317748_78317748AT>A	uc002bcy.4	-	4	939	c.939_939AT>T	c.(937-939)aatfs	p.N313fs	TBC1D2B_uc010bla.3_Frame_Shift_Del_p.N313fs	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	313						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TGCTGTGACGATTTTTGTACG	0.507												
CHD2	1106	broad.mit.edu	37	15	93540530	93540531	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr15:93540529_93540530T>TG	uc002bsp.3	+	29	4356_4357	c.3781_3782T>TG	c.(3781-3783)tggfs	p.W1261fs	CHD2_uc002bso.1_Frame_Shift_Ins_p.W1261fs	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1261					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGATGTAGAGTGGGGGGTGGAA	0.411												
PIGQ	9091	broad.mit.edu	37	16	633473	633473	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:633472_633472AC>A	uc002cho.3	+	9	2259	c.2121_2121AC>A	c.(2119-2121)gaafs	p.E707fs	PIGQ_uc010bqw.3_3'UTR|PIGQ_uc002chn.3_3'UTR|PIGQ_uc010uui.2_3'UTR|PIGQ_uc002chp.3_Frame_Shift_Del_p.E277fs|PIGQ_uc010uuj.2_Frame_Shift_Del_p.V105fs	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	707					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCAGGATGAACCCCCCAGTC	0.701												
JMJD8	339123	broad.mit.edu	37	16	733220	733220	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:733219_733219AC>A	uc002ciw.1	-	6	647	c.590_590GT>T	c.(589-591)gtgfs	p.V197fs	JMJD8_uc002ciy.1_Frame_Shift_Del_p.V167fs	NM_001005920	NP_001005920	Q96S16	JMJD8_HUMAN	Homo sapiens jumonji domain containing 8 (JMJD8), mRNA.	246										breast(1)	1						GTGGAAGGGCACCCCCGAGCC	0.597												
SRRM2	23524	broad.mit.edu	37	16	2813626	2813627	+	Frame_Shift_Ins	INS	-	-	CT	rs144062030	by1000genomes	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:2813625_2813626C>CCT	uc002crk.3	+	10	3645_3646	c.3096_3097C>CCT	c.(3094-3099)tccctcfs	p.S1032fs	SRRM2_uc002crj.1_Frame_Shift_Ins_p.S936fs|SRRM2_uc002crl.1_Frame_Shift_Ins_p.S1032fs|SRRM2_uc010bsu.1_Frame_Shift_Ins_p.S936fs	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1032	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCCTGGATCCCTCTCTCTCTG	0.480												
EEF2K	29904	broad.mit.edu	37	16	22262606	22262606	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:22262605_22262605TG>T	uc002dki.3	+	5	1065	c.580_580TG>T	c.(580-582)tggfs	p.W194fs	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	194	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GGCCAAGCTCTGGGGGGAGGA	0.622												
IL4R	3566	broad.mit.edu	37	16	27374719	27374719	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:27374718_27374718CG>C	uc002don.3	+	10	2287	c.2045_2045CG>C	c.(2044-2046)ccgfs	p.P682fs	IL4R_uc002dop.4_Frame_Shift_Del_p.P667fs|IL4R_uc010bxy.3_Frame_Shift_Del_p.P682fs|IL4R_uc002doo.3_Frame_Shift_Del_p.P522fs	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	682					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGTCTGGAGCCGGGGGAAAAG	0.627												
SEZ6L2	26470	broad.mit.edu	37	16	29884572	29884572	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:29884571_29884571TG>T	uc010vec.2	-	13	2723	c.2478_2478CA>A	c.(2476-2478)ccafs	p.P826fs	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Frame_Shift_Del_p.P756fs|SEZ6L2_uc002dur.4_Frame_Shift_Del_p.P756fs|SEZ6L2_uc002duq.4_Frame_Shift_Del_p.P826fs|SEZ6L2_uc010ved.2_Frame_Shift_Del_p.P782fs|SEZ6L2_uc002dus.4_Frame_Shift_Del_p.P712fs	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	826	Sushi 5.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTTGCAGAGTGGGGGCTGGC	0.617												
ALDOA	226	broad.mit.edu	37	16	30078940	30078941	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:30078939_30078940T>TC	uc010veg.2	+	3	711_712	c.443_444T>TC	c.(442-444)ttcfs	p.F148fs	BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.3_Frame_Shift_Ins_p.F94fs|ALDOA_uc002dvw.3_Frame_Shift_Ins_p.F94fs|ALDOA_uc002dvz.3_Frame_Shift_Ins_p.F94fs|ALDOA_uc002dwa.4_Frame_Shift_Ins_p.F94fs|ALDOA_uc002dwc.3_Frame_Shift_Ins_p.F94fs	NM_001243177	NP_001230106	P04075	ALDOA_HUMAN	Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript variant 6, mRNA.	94					ATP biosynthetic process|actin filament organization|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	I band|actin cytoskeleton|cytosol|extracellular vesicular exosome|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GGGCGTCCCTTCCCCCAAGTTA	0.574												
SETD1A	9739	broad.mit.edu	37	16	30995289	30995291	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:30995288_30995290GACA>G	uc002ead.1	+	18	5754_5756	c.5068_5070GACA>G	c.(5068-5070)gac>G	p.D1690del	HSD3B7_uc002eaf.2_5'Flank|HSD3B7_uc010cac.2_5'Flank|HSD3B7_uc002eag.2_5'Flank|HSD3B7_uc002eah.2_5'Flank	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1690					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCCACTGGAAGACAACAAGATCC	0.567												
ZNF668	79759	broad.mit.edu	37	16	31072706	31072707	+	Frame_Shift_Ins	INS	-	-	G	rs77284397		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:31072705_31072706T>TG	uc021tgt.1	-	3	1968_1969	c.1612_1613A>CA	c.(1612-1614)cagfs	p.Q538fs	ZNF668_uc010cag.2_Frame_Shift_Ins_p.Q515fs|ZNF668_uc010caf.3_Frame_Shift_Ins_p.Q515fs|ZNF668_uc002eao.3_Frame_Shift_Ins_p.Q515fs	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCACACAAACTGGGGGGGCTTC	0.663												
PRSS53	339105	broad.mit.edu	37	16	31098131	31098131	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:31098130_31098130AC>A	uc002eaq.3	-	3	332	c.332_332GT>T	c.(331-333)gtgfs	p.V111fs	PRSS53_uc002ear.3_5'UTR	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	Homo sapiens protease, serine, 53 (PRSS53), mRNA.	111	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CAGGGCAGCCACCCCCACCTC	0.652												
NLRC5	84166	broad.mit.edu	37	16	57060196	57060196	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:57060195_57060195GC>G	uc021tiu.1	+	4	1467	c.1340_1340GC>G	c.(1339-1341)agcfs	p.S447fs	NLRC5_uc021tit.1_Frame_Shift_Del_p.S447fs|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Frame_Shift_Del_p.S252fs|NLRC5_uc021tiw.1_Frame_Shift_Del_p.S252fs|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	447	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCGCCCTCAGCCCCCCTGGG	0.607												
CDH3	1001	broad.mit.edu	37	16	68732248	68732248	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:68732247_68732247TG>T	uc002ewf.2	+	15	3566	c.2434_2434TG>T	c.(2434-2436)tggfs	p.W812fs	CDH3_uc010vli.1_Frame_Shift_Del_p.W757fs	NM_001793	NP_001784	P22223	CADH3_HUMAN	Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA.	812					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TCTGAACGAGTGGGGCAGCCG	0.637												
DDX19B	11269	broad.mit.edu	37	16	70398964	70398964	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:70398963_70398963GA>G	uc002eys.3	+	6	665	c.536_536GA>G	c.(535-537)ggafs	p.G179fs	DDX19B_uc010cfq.1_Intron|DDX19B_uc010cfs.3_5'UTR|DDX19B_uc010vlz.2_Frame_Shift_Del_p.G147fs|DDX19B_uc002eyv.3_Frame_Shift_Del_p.G178fs|DDX19B_uc010cfr.3_Frame_Shift_Del_p.G28fs|DDX19B_uc010vma.2_Frame_Shift_Del_p.G88fs	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA.	179	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				CTTCAAACAGGAAAAGTGATT	0.458												
ZFHX3	463	broad.mit.edu	37	16	72830903	72830904	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:72830902_72830903CCT>C	uc002fck.3	-	8	6351_6352	c.5678_5679AGG>G	c.(5677-5679)aggfs	p.R1893fs	ZFHX3_uc002fcl.3_Frame_Shift_Del_p.R979fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1893					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			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGCGCTGTCCCTCTCTCTCTG	0.540												
ADAMTS18	170692	broad.mit.edu	37	16	77396098	77396109	+	In_Frame_Del	DEL	CAGACTGCCATT	CAGACTGCCATT	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:77396097_77396108GCAGACTGCCATT>G	uc002ffc.4	-	6	1529_1540	c.1110_1121AATGGCAGTCTGC>C	c.(1108-1122)caatggcagtctgcc>caCc	p.370_374QWQSA>H	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_In_Frame_Del_p.66_70QWQSA>H|ADAMTS18_uc010vni.1_Intron	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	370	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.W371L(2)|p.S373Y(2)|p.C369Y(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCCAATGAGGGCAGACTGCCATTGACAAAAAC	0.406												
KIAA0182	23199	broad.mit.edu	37	16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688												
PRPF8	10594	broad.mit.edu	37	17	1562781	1562781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:1562780_1562780TC>T	uc002fte.3	-	31	5123	c.5009_5009GA>A	c.(5008-5010)gacfs	p.D1670fs		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1670	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGAATCATAGTCCCCCCAGCG	0.532												
P2RX1	5023	broad.mit.edu	37	17	3819462	3819462	+	Frame_Shift_Del	DEL	G	G	-	rs35715771		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:3819461_3819461CG>C	uc002fww.3	-	0	500	c.59_59CG>G	c.(58-60)cgcfs	p.R20fs	P2RX1_uc010ckm.1_5'UTR	NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	20					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CAGCACCATGCGGGGGGTGTC	0.652												
PFAS	5198	broad.mit.edu	37	17	8167585	8167586	+	Frame_Shift_Ins	INS	-	-	C	rs138697840	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	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												
MYH10	4628	broad.mit.edu	37	17	8455425	8455425	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:8455424_8455424CT>C	uc002glm.3	-	8	955	c.859_859AG>G	c.(859-861)gatfs	p.D287fs	MYH10_uc002gll.3_Frame_Shift_Del_p.D277fs|MYH10_uc010cnx.3_Frame_Shift_Del_p.D286fs|MYH10_uc010cny.1_Non-coding_Transcript	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	277	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GTACGTTCATCTTTTGCTTGA	0.323												
MYH3	4621	broad.mit.edu	37	17	10555836	10555837	+	Frame_Shift_Ins	INS	-	-	G	rs139160750		TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:10555835_10555836T>TG	uc002gmq.2	-	3	337_338	c.249_250A>CA	c.(247-252)cccaagfs	p.P83fs		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	83	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.K84I(1)|p.K84K(1)|p.K84M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTCGAACTTGGGGGGGTTCA	0.495												
FOXN1	8456	broad.mit.edu	37	17	26864250	26864250	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:26864249_26864249TC>T	uc010crm.3	+	8	1940	c.1742_1742TC>T	c.(1741-1743)ttcfs	p.F581fs	FOXN1_uc002hbj.3_Frame_Shift_Del_p.F581fs	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	581					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCTCACTGCTTCCCCCCTGGG	0.647												
SSH2	85464	broad.mit.edu	37	17	27959375	27959375	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:27959374_27959374TG>T	uc002heo.1	-	14	2757	c.2757_2757CA>A	c.(2755-2757)ccafs	p.P919fs	SSH2_uc010wbh.1_Frame_Shift_Del_p.P946fs	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	919					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		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTT	0.478												
MMP28	79148	broad.mit.edu	37	17	34106048	34106049	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:34106047_34106048C>CT	uc002hjy.1	-	2	482_483	c.223_224G>AG	c.(223-225)agcfs	p.S75fs	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript|MMP28_uc002hka.3_Frame_Shift_Ins_p.S75fs	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	75					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAACACGCCGCTGACAGGTAGC	0.624												
KRT33A	3883	broad.mit.edu	37	17	39506948	39506948	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:39506947_39506947TG>T	uc002hwk.1	-	0	110	c.73_73CA>A	c.(73-75)agcfs	p.S25fs		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	25	Head.					intermediate filament	protein binding|structural molecule activity	p.P24T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CCGTGGCAGCTGGGGGGCACA	0.642												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602												
WFIKKN2	124857	broad.mit.edu	37	17	48917254	48917254	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:48917253_48917253AC>A	uc002isv.4	+	1	1298	c.604_604AC>A	c.(604-606)accfs	p.T202fs	WFIKKN2_uc010dbu.3_Frame_Shift_Del_p.T109fs	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	202						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTCCCCAGAGACCCCTGAGCT	0.632												
KIAA0195	9772	broad.mit.edu	37	17	73487871	73487871	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:73487870_73487870GC>G	uc010wsa.2	+	12	1707	c.1515_1515GC>G	c.(1513-1515)aagfs	p.K505fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.K495fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.K151fs	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	495					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGCTCCCAAGCCCCCCGAGC	0.627												
KIAA0195	9772	broad.mit.edu	37	17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:73491062_73491062TC>T	uc010wsa.2	+	18	2897	c.2705_2705TC>T	c.(2704-2706)atcfs	p.I902fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	892					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCTCCGAGATCCCCCCCTCC	0.612												
CASKIN2	57513	broad.mit.edu	37	17	73498973	73498974	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr17:73498972_73498973T>TG	uc002joc.3	-	17	2732_2733	c.2182_2183A>CA	c.(2182-2184)cagfs	p.Q728fs	CASKIN2_uc010wsc.2_Frame_Shift_Ins_p.Q646fs	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	728	Pro-rich.					cytoplasm		p.Q728fs*74(2)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTTCCTCTCCTGGGGGGGGCTG	0.649												
CTAGE1	64693	broad.mit.edu	37	18	19995553	19995553	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr18:19995552_19995552TG>T	uc002ktv.1	-	0	2327	c.2223_2223CA>A	c.(2221-2223)ccafs	p.P741fs		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	741	Pro-rich.					integral to membrane		p.P740L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATGTGGGGGCTGGGGGGAAAA	0.493												
SAFB	6294	broad.mit.edu	37	19	5667115	5667116	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:5667114_5667115T>TG	uc002mcg.3	+	17	2563_2564	c.2392_2393T>TG	c.(2392-2394)tggfs	p.W798fs	SAFB_uc002mcf.3_Frame_Shift_Ins_p.W798fs|SAFB_uc002mce.4_Frame_Shift_Ins_p.W797fs|SAFB_uc010xis.2_Frame_Shift_Ins_p.W729fs|SAFB_uc010xit.2_Frame_Shift_Ins_p.W640fs|SAFB_uc010xir.2_Frame_Shift_Ins_p.W797fs|SAFB_uc010xiu.2_Frame_Shift_Ins_p.W597fs	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	798	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CCGCGATGGCTGGGGGGGCTAT	0.644												
FUT3	2525	broad.mit.edu	37	19	5844464	5844465	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:5844463_5844464G>GC	uc002mdk.2	-	1	484_485	c.387_388C>GC	c.(385-390)gggcagfs	p.G129fs	FUT3_uc002mdm.2_Frame_Shift_Ins_p.G129fs|FUT3_uc002mdj.2_Frame_Shift_Ins_p.G129fs|FUT3_uc002mdl.2_Frame_Shift_Ins_p.G129fs|FUT3_uc021unn.1_Frame_Shift_Ins_p.G129fs	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	129					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						ATCCAGCGCTGCCCCTGCGGCC	0.594												
C3	718	broad.mit.edu	37	19	6697481	6697481	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:6697480_6697480TG>T	uc002mfm.3	-	20	2733	c.2671_2671CA>A	c.(2671-2673)aagfs	p.K891fs		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	891					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGAGGACTTGGGGGGGATG	0.577												
TIMM44	10469	broad.mit.edu	37	19	8002975	8002975	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:8002974_8002974AT>A	uc002miz.3	-	2	422	c.250_250AT>T	c.(250-252)ttcfs	p.F84fs	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	84					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCGTCACGGAATTTTTTTATA	0.413												
ZNF490	57474	broad.mit.edu	37	19	12693682	12693682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:12693681_12693681GT>G	uc002mtz.2	-	3	462	c.333_333AC>C	c.(331-333)aacfs	p.N111fs		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	111	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTCTTCCCTGGTTTTTGTGTT	0.313												
ZNF208	7757	broad.mit.edu	37	19	22157493	22157493	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:22157492_22157492AT>A	uc021urr.1	-	3	493	c.344_344AT>T	c.(343-345)attfs	p.I115fs	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGTATAACCAATTTTTAAGTG	0.368												
ZNF585A	199704	broad.mit.edu	37	19	37644081	37644082	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:37644080_37644081GTC>G	uc002ofo.1	-	4	951_952	c.720_721GAC>C	c.(718-723)agacacfs	p.R240fs	ZNF585A_uc002ofm.1_Frame_Shift_Del_p.R185fs|ZNF585A_uc002ofn.1_Frame_Shift_Del_p.R185fs	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATTCATGGTGTCTCTCTCCAG	0.421												
ZFP30	22835	broad.mit.edu	37	19	38127036	38127036	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:38127035_38127035AT>A	uc002ogv.1	-	5	923	c.407_407AT>T	c.(406-408)atgfs	p.M136fs	ZFP30_uc002ogw.1_Frame_Shift_Del_p.M136fs|ZFP30_uc002ogx.1_Frame_Shift_Del_p.M136fs|ZFP30_uc010xtt.1_Frame_Shift_Del_p.M135fs	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTAAGTAGGCATTTTTTCAGA	0.403												
CIC	23152	broad.mit.edu	37	19	42794441	42794441	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:42794440_42794440GC>G	uc002otf.1	+	9	1560	c.1520_1520GC>G	c.(1519-1521)cgcfs	p.R507fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCACTGCCGCCCCCCACTG	0.622			"""Mis, F, S"""		oligodendroglioma							
CIC	23152	broad.mit.edu	37	19	42794627	42794627	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:42794626_42794626GC>G	uc002otf.1	+	9	1746	c.1706_1706GC>G	c.(1705-1707)ggcfs	p.G569fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	569	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGCACAGCGGGCCCCCTACGG	0.677			"""Mis, F, S"""		oligodendroglioma							
ZNF180	7733	broad.mit.edu	37	19	44982020	44982020	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:44982019_44982019AT>A	uc002ozf.4	-	4	961	c.679_679AT>T	c.(679-681)tggfs	p.W227fs	ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Frame_Shift_Del_p.W200fs|ZNF180_uc002ozg.4_Frame_Shift_Del_p.W226fs|ZNF180_uc010ejm.3_Frame_Shift_Del_p.W202fs	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTAAGATGCCATTTTTTAGCA	0.368												
LMTK3	114783	broad.mit.edu	37	19	49000732	49000733	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49000731_49000732T>TG	uc002pjk.3	-	11	3681_3682	c.3681_3682A>CA	c.(3679-3684)cccaagfs	p.P1227fs		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCTCGGGCTTGGGGGGGTCCC	0.708												
NTF4	4909	broad.mit.edu	37	19	49564798	49564798	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:49564797_49564797GC>G	uc002pmf.4	-	1	594	c.458_458GC>C	c.(457-459)gcafs	p.A153fs	NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Frame_Shift_Del_p.A153fs	NM_006179	NP_006170	P34130	NTF4_HUMAN	Homo sapiens neurotrophin 4 (NTF4), mRNA.	153					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CCCTCCACCTGCCCCCGGGCC	0.652												
LILRB1	10859	broad.mit.edu	37	19	55143504	55143506	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:55143503_55143505AAGG>A	uc002qgj.3	+	5	816_818	c.476_478AAGG>A	c.(475-480)gaagga>gAga	p.G160del	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_In_Frame_Del_p.G160del|LILRB1_uc002qgk.3_In_Frame_Del_p.G160del|LILRB1_uc002qgm.3_In_Frame_Del_p.G160del|LILRB1_uc010erq.3_In_Frame_Del_p.G160del|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	160	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTGTGTAAGGAAGGAGAAGATGA	0.606										HNSCC(37;0.09)		
EPS8L1	54869	broad.mit.edu	37	19	55593836	55593837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr19:55593835_55593836C>CG	uc002qis.4	+	11	1183_1184	c.1079_1080C>CG	c.(1078-1080)tcgfs	p.S360fs	EPS8L1_uc010ess.1_Frame_Shift_Ins_p.S342fs|EPS8L1_uc010est.1_Frame_Shift_Ins_p.S360fs|EPS8L1_uc010yfr.2_Frame_Shift_Ins_p.S296fs|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Frame_Shift_Ins_p.S233fs|EPS8L1_uc002qiv.3_Frame_Shift_Ins_p.S6fs|EPS8L1_uc002qiw.3_Frame_Shift_Ins_p.S107fs	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	360						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTGAACACGTCGGGGGGGCCGG	0.663												
ISM1	140862	broad.mit.edu	37	20	13260475	13260475	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:13260474_13260474AC>A	uc010gce.1	+	2	578	c.572_572AC>A	c.(571-573)aacfs	p.N191fs	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	191						extracellular region		p.L190I(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AACTTCCTCAACCCCCCCAGG	0.552												
ESF1	51575	broad.mit.edu	37	20	13763492	13763492	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:13763491_13763491GT>G	uc002woj.3	-	1	404	c.296_296AC>C	c.(295-297)accfs	p.T99fs	ESF1_uc002wok.1_Frame_Shift_Del_p.T99fs|NDUFAF5_uc002woo.3_5'Flank|NDUFAF5_uc002wom.3_5'Flank|NDUFAF5_uc002won.3_5'Flank	NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	99	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTAGTCTGGGTTTTTTTCTT	0.323												
PLAGL2	5326	broad.mit.edu	37	20	30789952	30789952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:30789951_30789951AG>A	uc002wxn.2	-	1	248	c.31_31CT>T	c.(31-33)tggfs	p.W11fs		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	11						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTGAATCCAGGGGGGGACG	0.557												
NDRG3	57446	broad.mit.edu	37	20	35284817	35284817	+	Splice_Site	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:35284816_35284816TG>T	uc002xfw.3	-	15	1037	c.895_splice	c.e15-1	p.P299_splice	NDRG3_uc002xfx.3_Splice_Site_p.P287_splice|NDRG3_uc010zvq.2_Splice_Site_p.P204_splice|NDRG3_uc010zvr.2_Splice_Site_p.P187_splice	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	299					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CTTCCCAGGCTGGGGGGATAA	0.423												
KIAA1755	85449	broad.mit.edu	37	20	36841555	36841556	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:36841554_36841555T>TG	uc002xhy.1	-	13	3764_3765	c.3492_3493A>CA	c.(3490-3495)cccaggfs	p.P1164fs	KIAA1755_uc002xhv.1_Frame_Shift_Ins_p.P228fs|KIAA1755_uc002xhw.1_Frame_Shift_Ins_p.P219fs|KIAA1755_uc002xhx.1_Frame_Shift_Ins_p.P442fs	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	1164										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGGCTCTGCCTGGGGGGCTGCT	0.644												
ZNF334	55713	broad.mit.edu	37	20	45130769	45130769	+	Frame_Shift_Del	DEL	T	T	-	rs141823361	byFrequency	TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:45130768_45130768GT>G	uc002xsa.3	-	3	1741	c.1279_1279AC>C	c.(1279-1281)cccfs	p.P427fs	ZNF334_uc002xsb.3_Frame_Shift_Del_p.P366fs|ZNF334_uc002xsd.3_Frame_Shift_Del_p.P366fs|ZNF334_uc002xsc.3_Frame_Shift_Del_p.P404fs|ZNF334_uc010ghl.3_Frame_Shift_Del_p.P403fs			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATTCATAGGGTTTTTCCCCT	0.438												
SALL4	57167	broad.mit.edu	37	20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr20:50400982_50400982AC>A	uc002xwh.4	-	3	3085	c.2984_2984GT>T	c.(2983-2985)gttfs	p.V995fs	SALL4_uc010gii.3_Frame_Shift_Del_p.V558fs|SALL4_uc002xwi.4_Frame_Shift_Del_p.V218fs	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACT	0.562												
CCT8L2	150160	broad.mit.edu	37	22	17071787	17071788	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:17071786_17071787A>AT	uc002zlp.1	-	0	1914_1915	c.1654_1655T>AT	c.(1654-1656)atcfs	p.I552fs		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	552					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAATCCAAGGATTTTTTTTGTT	0.411												
CECR1	51816	broad.mit.edu	37	22	17662814	17662815	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:17662813_17662814C>CA	uc002zmk.1	-	7	1550_1551	c.1338_1339G>TG	c.(1336-1341)tttggtfs	p.F446fs	CECR1_uc010gqu.1_Frame_Shift_Ins_p.F446fs|CECR1_uc011agi.1_Frame_Shift_Ins_p.F404fs|CECR1_uc002zmj.1_Frame_Shift_Ins_p.F205fs	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	446					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCTTTGGCACCAAACATAGCTG	0.530												
HIC2	23119	broad.mit.edu	37	22	21800429	21800429	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:21800428_21800428AG>A	uc002zur.4	+	2	1474	c.1244_1244AG>A	c.(1243-1245)gagfs	p.E415fs	HIC2_uc002zus.4_Frame_Shift_Del_p.E415fs	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	415					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				AGCGGGAGCGAGGGGGGCAGC	0.657												
SEZ6L	23544	broad.mit.edu	37	22	26688972	26688972	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:26688971_26688971GC>G	uc003acb.3	+	1	890	c.694_694GC>G	c.(694-696)gccfs	p.A232fs	SEZ6L_uc003acd.3_Frame_Shift_Del_p.A232fs|SEZ6L_uc011akd.2_Frame_Shift_Del_p.A232fs|SEZ6L_uc003ace.3_Frame_Shift_Del_p.A232fs|SEZ6L_uc011akc.2_Frame_Shift_Del_p.A232fs|SEZ6L_uc003acc.3_Frame_Shift_Del_p.A232fs|SEZ6L_uc003acf.1_Frame_Shift_Del_p.A5fs|SEZ6L_uc010gvc.1_Frame_Shift_Del_p.A5fs	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	232						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCCCAGGAGGCCCCCCAGGA	0.642												
RNF185	91445	broad.mit.edu	37	22	31583132	31583133	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:31583131_31583132A>AG	uc003akb.3	+	1	251_252	c.51_52A>AG	c.(49-54)gcagggfs	p.A17fs	RNF185_uc010gwh.3_Non-coding_Transcript|RNF185_uc011alm.2_5'UTR|RNF185_uc003akc.3_5'UTR|RNF185_uc003ake.3_Frame_Shift_Ins_p.A17fs	NM_152267	NP_689480	Q96GF1	RN185_HUMAN	Homo sapiens ring finger protein 185 (RNF185), transcript variant 1, mRNA.	17						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						ACTCCAGTGCAGGGGGGCCCAG	0.604												
XRCC6	2547	broad.mit.edu	37	22	42024155	42024155	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:42024154_42024154AT>A	uc003bao.1	+	2	185	c.115_115AT>A	c.(115-117)attfs	p.I39fs	XRCC6_uc003bap.1_Frame_Shift_Del_p.I39fs|XRCC6_uc011apc.1_Intron|XRCC6_uc003bar.2_Frame_Shift_Del_p.I39fs	NM_001469	NP_001460	P12956	XRCC6_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6), mRNA.	39	Ser-rich (potentially targets for phosphorylation).				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGATAGTTTGATTTTTTTGGT	0.333								Non-homologous end-joining				
RRP7A	27341	broad.mit.edu	37	22	42912035	42912035	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:42912034_42912034GA>G	uc003bcp.3	-	0	888	c.394_394TC>C	c.(394-396)catfs	p.H132fs	RRP7A_uc003bcq.3_Frame_Shift_Del_p.H109fs	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA.	109							RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GGCTTGGGATGAAAAAACTTC	0.627												
SBF1	6305	broad.mit.edu	37	22	50898756	50898756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chr22:50898755_50898755TG>T	uc003blh.3	-	24	3424	c.3229_3229CA>A	c.(3229-3231)agcfs	p.S1077fs	SBF1_uc011arx.2_Frame_Shift_Del_p.S741fs	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1077					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCCCAGCTGGGGGGGTTG	0.647												
PRKX	5613	broad.mit.edu	37	X	3544540	3544540	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:3544539_3544539CA>C	uc010nde.3	-	4	1117	c.736_736TG>G	c.(736-738)gatfs	p.D246fs		NM_005044	NP_005035	P51817	PRKX_HUMAN	Homo sapiens protein kinase, X-linked (PRKX), mRNA.	246	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GGGTTGTCATCAAAAAACGGA	0.368												
HUWE1	10075	broad.mit.edu	37	X	53643948	53643950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:53643947_53643949TCTC>T	uc004dsp.3	-	20	2341_2343	c.1939_1941GAGA>A	c.(1939-1941)aga>A	p.R647del		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	647					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GATCAGAACTTCTCCTCCTCCGC	0.414												
HNRNPH2	3188	broad.mit.edu	37	X	100668112	100668112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:100668111_100668111CT>C	uc022cai.1	+	0	1135	c.1135_1135CT>C	c.(1135-1137)cttfs	p.L379fs	RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehm.3_Frame_Shift_Del_p.L379fs|HNRNPH2_uc004ehn.3_Frame_Shift_Del_p.L379fs	NM_019597	NP_062543	P55795	HNRH2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA.	379	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CTATGTAGAACTTTTTTTGAA	0.458												
ZMAT1	84460	broad.mit.edu	37	X	101139736	101139747	+	In_Frame_Del	DEL	TTGGTAAGAGTC	TTGGTAAGAGTC	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:101139735_101139746TTTGGTAAGAGTC>T	uc011mrl.2	-	6	1003_1014	c.653_664GACTCTTACCAAA>A	c.(652-666)gactcttaccaaaat>gAat	p.218_222DSYQN>E	ZMAT1_uc004eim.3_In_Frame_Del_p.47_51DSYQN>E|ZMAT1_uc004ein.3_In_Frame_Del_p.47_51DSYQN>E|ZMAT1_uc011mrm.2_In_Frame_Del_p.47_51DSYQN>E	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	47						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GCACACTCATTTTGGTAAGAGTCTTGTGTCTT	0.344												
GPRASP1	9737	broad.mit.edu	37	X	101912652	101912653	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:101912651_101912652TCA>T	uc010nod.3	+	2	4452_4453	c.3810_3811TCA>T	c.(3808-3813)tatcacfs	p.Y1270fs	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Frame_Shift_Del_p.Y1270fs|GPRASP1_uc004ejj.4_Frame_Shift_Del_p.Y1270fs|GPRASP1_uc004eji.4_Frame_Shift_Del_p.Y1270fs|GPRASP1_uc022cbd.1_Frame_Shift_Del_p.Y1270fs	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	1270	OPRD1-binding.					cytoplasm	protein binding	p.Y1270*(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTACTGACTATCACACACTGGT	0.406												
COL4A5	1287	broad.mit.edu	37	X	107827718	107827718	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:107827717_107827717CA>C	uc022ccg.1	+	17	1196	c.994_994CA>C	c.(994-996)caafs	p.Q332fs	COL4A5_uc004enz.1_Frame_Shift_Del_p.Q332fs|COL4A5_uc004eob.1_5'UTR	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	332	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.Q332H(1)|p.G331V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGAACAGGGCCAAAAAGGTGA	0.333									Alport syndrome with Diffuse Leiomyomatosis			
MAP7D3	79649	broad.mit.edu	37	X	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:135314193_135314193TG>T	uc004ezt.3	-	7	1144	c.923_923CA>A	c.(922-924)cagfs	p.Q308fs	MAP7D3_uc004ezs.3_Frame_Shift_Del_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.Q266fs	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537												
AFF2	2334	broad.mit.edu	37	X	148037653	148037655	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-8602-01A-11D-2394-08	TCGA-HU-8602-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f2fc4-7e4c-4ebe-9915-b7f1409fb497	e6844a18-1303-4185-83d0-080c428d27f4	g.chrX:148037652_148037654GAGA>G	uc004fcp.3	+	10	2556_2558	c.2077_2079GAGA>G	c.(2077-2079)gag>G	p.E693del	AFF2_uc004fcq.3_In_Frame_Del_p.E683del|AFF2_uc004fcr.3_In_Frame_Del_p.E654del|AFF2_uc011mxb.2_In_Frame_Del_p.E658del|AFF2_uc004fcs.3_In_Frame_Del_p.E660del|AFF2_uc011mxc.2_In_Frame_Del_p.E334del	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	693					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.E693*(3)|p.E334*(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGGCTCCCGAGAAGAAGAAGT	0.498												
