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
DVL1	1855	broad.mit.edu	37	1	1273751	1273751	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:1273751T>C	uc001aer.3	-	13	1377	c.1330A>G	c.(1330-1332)AAG>GAG	p.K444E	DVL1_uc002quu.2_Missense_Mutation_p.K186E|DVL1_uc009vka.2_Missense_Mutation_p.K127E|DVL1_uc001aeu.1_Missense_Mutation_p.K203E	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	469	DEP.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGGCGTACTTCCGGGCCTCC	0.652												
MXRA8	54587	broad.mit.edu	37	1	1290093	1290093	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:1290093G>A	uc001aew.2	-	5	949	c.918C>T	c.(916-918)AAC>AAT	p.N306N	MXRA8_uc001aex.3_Silent_p.N306N|MXRA8_uc001aey.3_Silent_p.N306N|MXRA8_uc010nyl.1_Silent_p.N306N|MXRA8_uc001aez.2_Silent_p.N205N|MXRA8_uc001afa.2_Silent_p.N297N	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	306	Extracellular (Potential).					integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCTGGAGCCGTTGCCCGGAG	0.741												
ATAD3A	55210	broad.mit.edu	37	1	1455603	1455603	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:1455603C>T	uc001afz.1	+	6	835	c.741C>T	c.(739-741)GCC>GCT	p.A247A	ATAD3A_uc001aga.1_Silent_p.A199A|ATAD3A_uc001agb.1_Silent_p.A120A	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	247	Potential.						ATP binding|nucleoside-triphosphatase activity|protein binding			skin(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GCGCCAAGGCCGAGCGGGAGA	0.677												
CDK11B	984	broad.mit.edu	37	1	1575703	1575703	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:1575703C>T	uc001agv.1	-	15	1297	c.1186G>A	c.(1186-1188)GAC>AAC	p.D396N	CDK11B_uc009vkj.2_Missense_Mutation_p.D53N|CDK11B_uc001ags.1_Missense_Mutation_p.D254N|CDK11B_uc001agt.1_Missense_Mutation_p.D179N|CDK11B_uc001aha.1_Missense_Mutation_p.D362N|CDK11B_uc001agw.1_Missense_Mutation_p.D351N|CDK11B_uc001agy.1_Missense_Mutation_p.D394N|CDK11B_uc001agx.1_Missense_Mutation_p.D385N|CDK11B_uc001agz.1_Missense_Mutation_p.D140N	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	409					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			skin(1)	1						GCAGGGGAGTCGGGCACATAG	0.667												
PANK4	55229	broad.mit.edu	37	1	2451312	2451312	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:2451312C>T	uc001ajm.1	-	6	790	c.781G>A	c.(781-783)GCC>ACC	p.A261T	PANK4_uc010nza.1_Missense_Mutation_p.A222T	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	261					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)		GTCTGGTGGGCGCCGCCGTAG	0.682												
PANK4	55229	broad.mit.edu	37	1	2453179	2453179	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:2453179C>T	uc001ajm.1	-	2	194	c.185G>A	c.(184-186)CGG>CAG	p.R62Q	PANK4_uc010nza.1_Missense_Mutation_p.R62Q	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	62					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)		GTCGAAAGACCGCACCTTGGC	0.607												
PRDM16	63976	broad.mit.edu	37	1	3342201	3342201	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:3342201G>A	uc001akf.2	+	13	3076	c.2996G>A	c.(2995-2997)CGG>CAG	p.R999Q	PRDM16_uc001akc.2_Missense_Mutation_p.R998Q|PRDM16_uc001akd.2_Missense_Mutation_p.R998Q|PRDM16_uc001ake.2_Missense_Mutation_p.R999Q|PRDM16_uc009vlh.2_Missense_Mutation_p.R699Q	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	999	C2H2-type 9.|Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGCACGTCCGGAACATCCAC	0.617			T	EVI1	MDS|AML							
TP73	7161	broad.mit.edu	37	1	3646621	3646621	+	Silent	SNP	C	C	T	rs139554277	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:3646621C>T	uc001akp.2	+	11	1364	c.1254C>T	c.(1252-1254)CAC>CAT	p.H418H	TP73_uc001akq.2_Intron|TP73_uc001akr.2_Silent_p.H369H|TP73_uc009vlk.1_Intron|TP73_uc001aks.2_Silent_p.H369H|TP73_uc010nzk.1_Silent_p.H347H|TP73_uc010nzl.1_Intron	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	418					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		ACAAGGTGCACGGGGGCATGA	0.667												
NPHP4	261734	broad.mit.edu	37	1	5964781	5964781	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:5964781G>A	uc001alq.1	-	16	2305	c.2039C>T	c.(2038-2040)ACG>ATG	p.T680M	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	680					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTCGTGGCGTCGTTGCGGG	0.597												
CHD5	26038	broad.mit.edu	37	1	6186673	6186673	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:6186673C>T	uc001amb.1	-	26	4137	c.4037G>A	c.(4036-4038)CGC>CAC	p.R1346H	CHD5_uc001alz.1_Missense_Mutation_p.R203H|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	1346					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)		GACCTGCTTGCGGATGCGCTT	0.667												
DNAJC11	55735	broad.mit.edu	37	1	6706012	6706012	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:6706012T>C	uc001aof.2	-	8	837	c.731A>G	c.(730-732)CAG>CGG	p.Q244R	DNAJC11_uc010nzt.1_Missense_Mutation_p.Q206R|DNAJC11_uc001aog.2_Missense_Mutation_p.Q244R|DNAJC11_uc010nzu.1_Missense_Mutation_p.Q154R	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	244					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGAAAACTGCAGAGCACA	0.542												
PER3	8863	broad.mit.edu	37	1	7887444	7887444	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:7887444G>A	uc001aoo.2	+	17	2606	c.2431G>A	c.(2431-2433)GGA>AGA	p.G811R	PER3_uc009vmg.1_Missense_Mutation_p.G819R|PER3_uc009vmh.1_Missense_Mutation_p.G812R|PER3_uc001aop.2_Missense_Mutation_p.G819R|PER3_uc010nzw.1_Missense_Mutation_p.G500R	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	811	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTCACCCGGAAGAGAATA	0.647												
PARK7	11315	broad.mit.edu	37	1	8025395	8025395	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:8025395C>T	uc001aou.3	+	3	207	c.102C>T	c.(100-102)ACC>ACT	p.T34T	PARK7_uc001aow.3_Silent_p.T34T|PARK7_uc001aox.3_Silent_p.T34T|PARK7_uc001aov.3_Silent_p.T34T	NM_001123377	NP_001116849	Q99497	PARK7_HUMAN	Parkinson disease protein 7	34					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity				0	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		TTAAGGTCACCGTTGCAGGCC	0.368												
CLSTN1	22883	broad.mit.edu	37	1	9795564	9795564	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:9795564G>A	uc001aqh.2	-	13	2603	c.1844C>T	c.(1843-1845)ACG>ATG	p.T615M	CLSTN1_uc001aqi.2_Missense_Mutation_p.T605M|CLSTN1_uc010oag.1_Missense_Mutation_p.T596M|CLSTN1_uc001aqf.2_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	615	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)		AATTCCGGGCGTGGGGAACTG	0.507												
CLSTN1	22883	broad.mit.edu	37	1	9811556	9811556	+	Silent	SNP	G	G	A	rs140241620		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:9811556G>A	uc001aqh.2	-	5	1383	c.624C>T	c.(622-624)GAC>GAT	p.D208D	CLSTN1_uc001aqi.2_Silent_p.D198D|CLSTN1_uc010oag.1_Silent_p.D208D	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	208	Cadherin 2.|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)		TAAAGGGCACGTCTGGAGTGA	0.532												
TARDBP	23435	broad.mit.edu	37	1	11082644	11082644	+	Missense_Mutation	SNP	C	C	T	rs80356743		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:11082644C>T	uc001art.2	+	6	1312	c.1178C>T	c.(1177-1179)TCG>TTG	p.S393L	TARDBP_uc010oap.1_Missense_Mutation_p.S277L	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	393	Gly-rich.		S -> L (in ALS10).		3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AATGCAGGGTCGGGCAGTGGT	0.498												
EXOSC10	5394	broad.mit.edu	37	1	11141137	11141137	+	Splice_Site	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:11141137A>G	uc001asa.2	-	11	1487	c.1437_splice	c.e11+1	p.K479_splice	EXOSC10_uc001asb.2_Splice_Site_p.K479_splice|EXOSC10_uc009vmy.1_Splice_Site_p.K479_splice	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1						CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			upper_aerodigestive_tract(1)	1	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCTGAGGTGTACCTTGAGGCA	0.557												
MTOR	2475	broad.mit.edu	37	1	11181345	11181345	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:11181345G>A	uc001asd.2	-	49	7012	c.6891C>T	c.(6889-6891)GAC>GAT	p.D2297D	MTOR_uc001asc.2_Silent_p.D502D	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2297	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						TGGCCAGGTCGTCCCCAGCTG	0.577												
FBXO44	93611	broad.mit.edu	37	1	11716013	11716013	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:11716013A>G	uc001asm.2	+	2	247	c.121A>G	c.(121-123)ATC>GTC	p.I41V	FBXO2_uc001asj.2_5'Flank|FBXO2_uc009vna.2_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.2_Missense_Mutation_p.I41V|FBXO44_uc010oaq.1_Missense_Mutation_p.I41V|FBXO44_uc001asl.2_Missense_Mutation_p.I41V|FBXO44_uc001asn.2_Missense_Mutation_p.I41V|FBXO44_uc010oar.1_Missense_Mutation_p.I41V|FBXO44_uc010oas.1_5'UTR	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN	F-box protein 44 isoform 1	41	F-box.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-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;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGGACCTCATCGACCTCGT	0.632												
MTHFR	4524	broad.mit.edu	37	1	11854864	11854864	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:11854864C>T	uc001atc.1	-	7	1272	c.1088G>A	c.(1087-1089)CGT>CAT	p.R363H	MTHFR_uc001atb.1_Missense_Mutation_p.R386H	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	363					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|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)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GAAGATGGGACGTACATCTTC	0.602												
MFN2	9927	broad.mit.edu	37	1	12059112	12059112	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:12059112G>A	uc001atn.3	+	8	1229	c.776G>A	c.(775-777)CGC>CAC	p.R259H	MFN2_uc009vni.2_Missense_Mutation_p.R259H	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	259	Cytoplasmic (Potential).|GTP (Probable).			R->L: Does not affect its ability to cluster mitochondria; when overexpressed.	blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTGAACAACCGCTGGGATGCA	0.552												
MFN2	9927	broad.mit.edu	37	1	12065913	12065913	+	Silent	SNP	C	C	T	rs140924661	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:12065913C>T	uc001atn.3	+	15	2094	c.1641C>T	c.(1639-1641)CTC>CTT	p.L547L	MFN2_uc009vni.2_Silent_p.L547L	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	547	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ATTTCTCTCTCGGATGGACCA	0.532												
PRAMEF10	343071	broad.mit.edu	37	1	12954550	12954550	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:12954550G>A	uc001auo.2	-	3	806	c.733C>T	c.(733-735)CGT>TGT	p.R245C		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	PRAME family member 10	245											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TACAACTCACGCTCATAACCG	0.468												
PRAMEF20	645425	broad.mit.edu	37	1	13743058	13743058	+	Missense_Mutation	SNP	G	G	A	rs149822615	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:13743058G>A	uc009voa.1	+	2	346	c.247G>A	c.(247-249)GAT>AAT	p.D83N		NM_001099852	NP_001093322	Q5VT98	PRA20_HUMAN	PRAME family member 20	83										ovary(1)	1	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGTGCTCGATGGGCTTGA	0.607												
PRDM2	7799	broad.mit.edu	37	1	14108525	14108525	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:14108525T>C	uc001avi.2	+	8	5091	c.4235T>C	c.(4234-4236)ATG>ACG	p.M1412T	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.M1412T|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.M1211T|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	1412	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTCAGCAAAATGTCGTCGAAT	0.403												
CTRC	11330	broad.mit.edu	37	1	15769935	15769935	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:15769935G>T	uc001awi.1	+	5	401	c.378G>T	c.(376-378)AAG>AAT	p.K126N	CTRC_uc001awj.1_Missense_Mutation_p.K126N	NM_007272	NP_009203	Q99895	CTRC_HUMAN	chymotrypsin C preproprotein	126	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCATCAAGCTTGCAGAGC	0.602												
SPEN	23013	broad.mit.edu	37	1	16256120	16256120	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:16256120G>A	uc001axk.1	+	11	3589	c.3385G>A	c.(3385-3387)GTT>ATT	p.V1129I	SPEN_uc010obp.1_Missense_Mutation_p.V1088I	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1129					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGAGAAGACGTTAGGAAAAA	0.393												
CLCNKB	1188	broad.mit.edu	37	1	16377094	16377094	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:16377094G>A	uc001axw.3	+	11	1132	c.1052G>A	c.(1051-1053)CGG>CAG	p.R351Q	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.R351Q|CLCNKB_uc001axy.3_Missense_Mutation_p.R182Q	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	351					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		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)		CTAGCTTCTCGGGTAAGGGGC	0.493												
PADI2	11240	broad.mit.edu	37	1	17402299	17402299	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:17402299T>C	uc001baf.2	-	12	1412	c.1330A>G	c.(1330-1332)ACC>GCC	p.T444A	PADI2_uc010ocm.1_Missense_Mutation_p.T328A	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	444					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACCACCTTGGTCATCCTCCGA	0.597											OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KLHDC7A	127707	broad.mit.edu	37	1	18809344	18809344	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:18809344C>T	uc001bax.2	+	1	1921	c.1869C>T	c.(1867-1869)TTC>TTT	p.F623F	KLHDC7A_uc009vpg.2_Silent_p.F405F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	623	Kelch 4.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACACGTTCGCCCTGGCGC	0.667												
PAX7	5081	broad.mit.edu	37	1	19029646	19029646	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:19029646C>T	uc001bay.2	+	7	1609	c.1011C>T	c.(1009-1011)GGC>GGT	p.G337G	PAX7_uc001baz.2_Silent_p.G335G|PAX7_uc010oct.1_Silent_p.G337G	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	337					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1)	203		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TGCACCAGGGCGGGCTGGCTG	0.657			T	FOXO1A	alveolar rhabdomyosarcoma							
UBR4	23352	broad.mit.edu	37	1	19499498	19499498	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:19499498C>T	uc001bbi.2	-	25	3385	c.3381G>A	c.(3379-3381)GCG>GCA	p.A1127A	UBR4_uc001bbm.1_Silent_p.A338A	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1127					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)		CCTTTGAGATCGCGGCATCAA	0.448												
HTR6	3362	broad.mit.edu	37	1	20005415	20005415	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:20005415G>A	uc001bcl.2	+	3	1344	c.877G>A	c.(877-879)GTG>ATG	p.V293M		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	293	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CCCCCAGGCCGTGTGCGACTG	0.607												
TMCO4	255104	broad.mit.edu	37	1	20009614	20009614	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:20009614G>A	uc001bcn.2	-	16	2066	c.1824C>T	c.(1822-1824)TGC>TGT	p.C608C	TMCO4_uc001bcm.2_Silent_p.C439C|TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	608						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGCCATGGCTGCAGATGGGGG	0.672												
KIF17	57576	broad.mit.edu	37	1	21016737	21016737	+	Missense_Mutation	SNP	C	C	T	rs140125368		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:21016737C>T	uc001bdr.3	-	7	1443	c.1325G>A	c.(1324-1326)CGC>CAC	p.R442H	KIF17_uc009vpx.2_5'UTR|KIF17_uc001bds.3_Missense_Mutation_p.R442H	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	442	Potential.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		ATATGAGTTGCGCATGGCAGT	0.642												
EIF4G3	8672	broad.mit.edu	37	1	21137375	21137375	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:21137375C>T	uc001bec.2	-	31	4688	c.4432G>A	c.(4432-4434)GAC>AAC	p.D1478N	EIF4G3_uc010odi.1_Missense_Mutation_p.D1082N|EIF4G3_uc010odj.1_Missense_Mutation_p.D1477N|EIF4G3_uc009vpz.2_Missense_Mutation_p.D1198N|EIF4G3_uc001bed.2_Missense_Mutation_p.D1478N|EIF4G3_uc001bef.2_Missense_Mutation_p.D1514N|EIF4G3_uc001bee.2_Missense_Mutation_p.D1484N	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1478	EIF4A-binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTAGAAGAGTCGGCTAAAGGT	0.323												
HNRNPR	10236	broad.mit.edu	37	1	23637727	23637727	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:23637727C>T	uc001bgr.3	-	10	1415	c.1256G>A	c.(1255-1257)CGC>CAC	p.R419H	HNRNPR_uc001bgo.2_Missense_Mutation_p.R29H|HNRNPR_uc001bgp.3_Missense_Mutation_p.R422H|HNRNPR_uc009vqk.2_Missense_Mutation_p.R321H|HNRNPR_uc001bgs.3_Missense_Mutation_p.R318H|HNRNPR_uc010odw.1_Missense_Mutation_p.R381H|HNRNPR_uc010odx.1_Missense_Mutation_p.R259H|HNRNPR_uc009vql.2_Missense_Mutation_p.R280H	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	419						catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		AGCAGCTTGGCGCTCTTTCCT	0.388												
TCEB3	6924	broad.mit.edu	37	1	24080742	24080742	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:24080742G>A	uc001bho.2	+	6	1828	c.1768G>A	c.(1768-1770)GAT>AAT	p.D590N		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	590	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AAACAACATCGATTGTAAGTC	0.458												
TCEB3	6924	broad.mit.edu	37	1	24086058	24086058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:24086058C>T	uc001bho.2	+	11	2452	c.2392C>T	c.(2392-2394)CGA>TGA	p.R798*		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	798					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ATTCTCCCGACGATAAACTGA	0.483												
SLC30A2	7780	broad.mit.edu	37	1	26365783	26365783	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:26365783G>A	uc001blh.1	-	7	1057	c.840C>T	c.(838-840)GAC>GAT	p.D280D	SLC30A2_uc001blg.1_Silent_p.D329D	NM_032513	NP_115902	Q9BRI3	ZNT2_HUMAN	solute carrier family 30, member 2 isoform 2	280	Vacuolar (Potential).				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity				0		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;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCTGGGCGTCTGTATTCT	0.587												
RPS6KA1	6195	broad.mit.edu	37	1	26881658	26881658	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:26881658G>A	uc001bmr.1	+	10	936	c.773G>A	c.(772-774)GGC>GAC	p.G258D	RPS6KA1_uc010ofe.1_Missense_Mutation_p.G166D|RPS6KA1_uc010off.1_Missense_Mutation_p.G242D|RPS6KA1_uc001bms.1_Missense_Mutation_p.G267D|RPS6KA1_uc009vsl.1_Missense_Mutation_p.G101D	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	258	Protein kinase 1.				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)		ATGCTGACGGGCTCCCTGCCC	0.597												
ARID1A	8289	broad.mit.edu	37	1	27101350	27101350	+	Silent	SNP	G	G	A	rs146171057		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:27101350G>A	uc001bmv.1	+	18	5005	c.4632G>A	c.(4630-4632)TCG>TCA	p.S1544S	ARID1A_uc001bmt.1_Silent_p.S1543S|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Silent_p.S1161S|ARID1A_uc001bmx.1_Silent_p.S390S|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_Translation_Start_Site	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1544					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACGAAGGCTCGTGGCCTTCCC	0.642			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
PIGV	55650	broad.mit.edu	37	1	27120642	27120642	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:27120642A>C	uc001bmz.2	+	3	448	c.117A>C	c.(115-117)GAA>GAC	p.E39D	PIGV_uc001bmy.2_Missense_Mutation_p.K3T|PIGV_uc009vso.2_Missense_Mutation_p.E39D|PIGV_uc010ofg.1_Missense_Mutation_p.K3T|PIGV_uc001bna.2_Missense_Mutation_p.E39D	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	39	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ACCATGCAGAAGCCTTCTCTC	0.408												
FAM46B	115572	broad.mit.edu	37	1	27332928	27332928	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:27332928C>T	uc010ofj.1	-	2	957	c.785G>A	c.(784-786)CGG>CAG	p.R262Q		NM_052943	NP_443175	Q96A09	FA46B_HUMAN	hypothetical protein LOC115572	262										central_nervous_system(1)	1		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GACACGGTGCCGCAGGTGCTC	0.672												
YTHDF2	51441	broad.mit.edu	37	1	29070322	29070322	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:29070322C>T	uc001brc.2	+	4	2037	c.1540C>T	c.(1540-1542)CGC>TGC	p.R514C	YTHDF2_uc001brd.2_Missense_Mutation_p.R511C|YTHDF2_uc010ofx.1_Missense_Mutation_p.R464C|YTHDF2_uc001bre.2_Missense_Mutation_p.R464C	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	514	YTH.				humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCGACACATTCGCCTAGAGAA	0.478												
BAI2	576	broad.mit.edu	37	1	32198645	32198645	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:32198645C>A	uc001btn.2	-	26	3906	c.3552G>T	c.(3550-3552)CAG>CAT	p.Q1184H	BAI2_uc001btm.2_Missense_Mutation_p.Q178H|BAI2_uc001btp.1_Missense_Mutation_p.Q178H|BAI2_uc010ogn.1_Missense_Mutation_p.Q154H|BAI2_uc010ogo.1_Missense_Mutation_p.Q793H|BAI2_uc010ogp.1_Missense_Mutation_p.Q1117H|BAI2_uc010ogq.1_Missense_Mutation_p.Q1151H|BAI2_uc001bto.2_Missense_Mutation_p.Q1184H	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1184	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAAAGAGGGCCTGGAAGAGGA	0.652												
SPOCD1	90853	broad.mit.edu	37	1	32262281	32262281	+	Silent	SNP	C	C	T	rs146160927		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:32262281C>T	uc001bts.1	-	10	2239	c.2181G>A	c.(2179-2181)CCG>CCA	p.P727P	SPOCD1_uc001btt.2_Silent_p.P33P|SPOCD1_uc001btu.2_Silent_p.P727P|SPOCD1_uc001btv.2_Silent_p.P220P|SPOCD1_uc001btw.1_Silent_p.P71P	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	727	TFIIS central.				transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GAAGTCTGCACGGCTCCTTCT	0.527												
PTP4A2	8073	broad.mit.edu	37	1	32377335	32377335	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:32377335A>G	uc001bty.1	-	4	1276	c.282T>C	c.(280-282)GGT>GGC	p.G94G	PTP4A2_uc010ogs.1_Silent_p.G63G|PTP4A2_uc001btz.1_Intron	NM_080391	NP_536316	Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	94	Tyrosine-protein phosphatase.					early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity				0		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				CAACACAGCAACCTGGCTCTT	0.403												
ZBTB8A	653121	broad.mit.edu	37	1	33059218	33059218	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:33059218G>A	uc001bvn.2	+	3	1171	c.686G>A	c.(685-687)CGA>CAA	p.R229Q	ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.R229Q	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCAAGCAAACGAGAAGTACGA	0.423												
PHC2	1912	broad.mit.edu	37	1	33820015	33820015	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:33820015C>T	uc001bxg.1	-	8	1596	c.1542G>A	c.(1540-1542)CCG>CCA	p.P514P	PHC2_uc001bxh.1_Silent_p.P486P|PHC2_uc009vuh.1_Silent_p.P515P	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	514					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGCTGGGGACGGCTGGATGT	0.607												
GRIK3	2899	broad.mit.edu	37	1	37346337	37346337	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:37346337C>T	uc001caz.2	-	3	583	c.448G>A	c.(448-450)GTG>ATG	p.V150M	GRIK3_uc001cba.1_Missense_Mutation_p.V150M	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	150	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TAGAGGTTCACGTAGAAGGTG	0.602												
INPP5B	3633	broad.mit.edu	37	1	38409479	38409479	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:38409479G>A	uc001ccg.1	-	4	333	c.239C>T	c.(238-240)ACG>ATG	p.T80M	INPP5B_uc009vvk.1_Missense_Mutation_p.T21M|INPP5B_uc001cch.2_Missense_Mutation_p.T21M	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	80					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCTTCCAGCGTAAAATCCCG	0.582												
POU3F1	5453	broad.mit.edu	37	1	38512161	38512161	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:38512161G>A	uc001ccp.1	-	1	290	c.255C>T	c.(253-255)GCC>GCT	p.A85A		NM_002699	NP_002690	Q03052	PO3F1_HUMAN	POU domain, class 3, transcription factor 1	85	Gly-rich.				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)				GCGGGCCGCCGGCCCAATCGC	0.582												
MACF1	23499	broad.mit.edu	37	1	39827081	39827081	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:39827081G>A	uc010oiu.1	+	13	7954	c.7823G>A	c.(7822-7824)CGT>CAT	p.R2608H	MACF1_uc010ois.1_Missense_Mutation_p.R2106H|MACF1_uc001cda.1_Missense_Mutation_p.R2014H|MACF1_uc001cdc.1_Missense_Mutation_p.R1193H|MACF1_uc001cdb.1_Missense_Mutation_p.R1193H	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4173					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGGCCACCCGTGAGATGGTG	0.532												
MACF1	23499	broad.mit.edu	37	1	39888117	39888117	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:39888117A>G	uc010oiu.1	+	23	11339	c.11208A>G	c.(11206-11208)TTA>TTG	p.L3736L	MACF1_uc010ois.1_Silent_p.L3234L|MACF1_uc001cda.1_Silent_p.L3121L|MACF1_uc001cdc.1_Silent_p.L2300L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5301	Spectrin 6.|LRR 21.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCAGGGATTAATTCAGAGTG	0.388												
MACF1	23499	broad.mit.edu	37	1	39914383	39914383	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:39914383C>T	uc010oiu.1	+	49	15666	c.15535C>T	c.(15535-15537)CTA>TTA	p.L5179L	MACF1_uc010ois.1_Silent_p.L4677L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	6743	Spectrin 16.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGACAATTTCCTAGGAGAAGT	0.473												
NT5C1A	84618	broad.mit.edu	37	1	40129013	40129013	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:40129013G>A	uc001cdq.1	-	4	527	c.527C>T	c.(526-528)GCG>GTG	p.A176V		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	176					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)			CACTTTTTCCGCATCGGCTGA	0.537												
RLF	6018	broad.mit.edu	37	1	40704193	40704193	+	Silent	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:40704193A>C	uc001cfc.3	+	8	3850	c.3819A>C	c.(3817-3819)TCA>TCC	p.S1273S	RLF_uc001cfd.3_Silent_p.S964S	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1273					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ACATTTCATCACCAATAGGCA	0.378												
COL9A2	1298	broad.mit.edu	37	1	40769618	40769618	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:40769618G>A	uc001cfh.1	-	26	1420	c.1350C>T	c.(1348-1350)CCC>CCT	p.P450P	COL9A2_uc001cfi.1_Silent_p.P269P	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	450	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				ovary(2)	2	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CTTTCTCTCCGGGGAGGCCGG	0.736												
EBNA1BP2	10969	broad.mit.edu	37	1	43634636	43634636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:43634636G>A	uc001cin.2	-	5	708	c.511C>T	c.(511-513)CGA>TGA	p.R171*	EBNA1BP2_uc001cio.2_Nonsense_Mutation_p.R226*|EBNA1BP2_uc001cim.2_Nonsense_Mutation_p.R66*|EBNA1BP2_uc010ojx.1_Nonsense_Mutation_p.R226*	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2	171					ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTAAGTGCTCGCAGTTGCTTA	0.468												
WDR65	149465	broad.mit.edu	37	1	43652399	43652399	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:43652399A>G	uc001cip.1	+	6	1112	c.991A>G	c.(991-993)AAT>GAT	p.N331D	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.N320D|WDR65_uc001ciq.1_Missense_Mutation_p.N331D	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	331										skin(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCGCAGAGCAATGATCCAAG	0.478												
HYI	81888	broad.mit.edu	37	1	43917505	43917505	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:43917505T>C	uc001cjo.2	-	5	689	c.519A>G	c.(517-519)TTA>TTG	p.L173L	KIAA0467_uc001cjk.1_3'UTR|KIAA0467_uc001cjl.1_3'UTR|HYI_uc001cjm.2_Silent_p.L100L|HYI_uc001cjn.2_Silent_p.L173L|HYI_uc001cjp.2_Silent_p.L100L	NM_031207	NP_112484	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase homolog	173							hydroxypyruvate isomerase activity			ovary(1)	1	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTACCTTCTGTAAGATGGCTG	0.567												
PTPRF	5792	broad.mit.edu	37	1	44083122	44083122	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:44083122G>A	uc001cjr.2	+	24	4418	c.4078G>A	c.(4078-4080)GAC>AAC	p.D1360N	PTPRF_uc001cjs.2_Missense_Mutation_p.D1351N|PTPRF_uc001cju.2_Missense_Mutation_p.D749N|PTPRF_uc009vwt.2_Missense_Mutation_p.D920N|PTPRF_uc001cjv.2_Missense_Mutation_p.D831N|PTPRF_uc001cjw.2_Missense_Mutation_p.D586N	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1360	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAGTCCATCGACCCTGGACA	0.567												
ST3GAL3	6487	broad.mit.edu	37	1	44386553	44386553	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:44386553G>A	uc001ckc.2	+	11	1168	c.991G>A	c.(991-993)GCA>ACA	p.A331T	ST3GAL3_uc001cjz.2_Missense_Mutation_p.A346T|ST3GAL3_uc001cka.2_Intron|ST3GAL3_uc001ckb.2_Missense_Mutation_p.A400T|ST3GAL3_uc001ckd.2_Missense_Mutation_p.A385T|ST3GAL3_uc001cke.2_Missense_Mutation_p.A315T|ST3GAL3_uc001ckf.2_Missense_Mutation_p.A369T|ST3GAL3_uc001ckg.2_Intron|ST3GAL3_uc001ckh.2_Intron|ST3GAL3_uc001cki.2_Intron|ST3GAL3_uc009vwv.2_Missense_Mutation_p.A301T|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Missense_Mutation_p.A300T|ST3GAL3_uc009vwy.2_Missense_Mutation_p.A237T|ST3GAL3_uc009vwx.2_Intron|ST3GAL3_uc001ckm.2_Intron|ST3GAL3_uc001ckl.2_Intron|ST3GAL3_uc009vwz.2_Missense_Mutation_p.A105T|ST3GAL3_uc001ckn.2_Intron|ST3GAL3_uc001ckp.2_Intron|ST3GAL3_uc001cko.2_Intron|ST3GAL3_uc009vxa.2_Missense_Mutation_p.A118T|ST3GAL3_uc001ckq.2_Intron|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Intron	NM_006279	NP_006270	Q11203	SIAT6_HUMAN	sialyltransferase 6 isoform j	331	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			ovary(3)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CACACCCAACGCACCCCTGCA	0.597												
IPO13	9670	broad.mit.edu	37	1	44432283	44432283	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:44432283C>T	uc001ckx.2	+	16	3229	c.2434C>T	c.(2434-2436)CGA>TGA	p.R812*	IPO13_uc001cky.2_Nonsense_Mutation_p.R30*	NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	812	HEAT 14.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCTGTGTGAACGATTGGATGT	0.582												
ATP6V0B	533	broad.mit.edu	37	1	44442832	44442832	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:44442832G>A	uc001cld.2	+	7	646	c.535G>A	c.(535-537)GTG>ATG	p.V179M	ATP6V0B_uc001clc.2_Missense_Mutation_p.V179M|ATP6V0B_uc001cle.2_Missense_Mutation_p.V132M|ATP6V0B_uc001clf.2_Missense_Mutation_p.V132M|B4GALT2_uc001clg.2_5'Flank|B4GALT2_uc001clh.2_5'Flank|B4GALT2_uc010okl.1_5'Flank	NM_004047	NP_004038	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	179	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GATTCTCATCGTGGAGATCTT	0.567												
SLC6A9	6536	broad.mit.edu	37	1	44466866	44466866	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:44466866G>A	uc001cll.2	-	10	1716	c.1524C>T	c.(1522-1524)GGC>GGT	p.G508G	SLC6A9_uc009vxe.2_Silent_p.G364G|SLC6A9_uc010okm.1_Silent_p.G435G|SLC6A9_uc001clm.2_Silent_p.G454G|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Silent_p.G439G|SLC6A9_uc001cln.2_Silent_p.G435G|SLC6A9_uc010oko.1_Silent_p.G324G|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	508	Helical; Name=9; (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCAGCAGGAAGCCAGCCACAG	0.622												
HPDL	84842	broad.mit.edu	37	1	45793666	45793666	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:45793666T>C	uc001cne.2	+	1	1122	c.846T>C	c.(844-846)GCT>GCC	p.A282A		NM_032756	NP_116145	Q96IR7	HPDL_HUMAN	glyoxalase domain containing 1	282					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	Acute lymphoblastic leukemia(166;0.155)					AGTTCCTGGCTCCCCCTGGGG	0.637												
TMEM69	51249	broad.mit.edu	37	1	46159219	46159219	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:46159219A>G	uc001cor.1	+	3	582	c.386A>G	c.(385-387)CAG>CGG	p.Q129R		NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	129	Helical; (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCTTTTACTCAGATGGCTTAT	0.443												
ELAVL4	1996	broad.mit.edu	37	1	50659494	50659494	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:50659494G>A	uc001csb.2	+	4	680	c.412G>A	c.(412-414)GGC>AGC	p.G138S	ELAVL4_uc001cry.3_Missense_Mutation_p.G141S|ELAVL4_uc001crz.3_Missense_Mutation_p.G138S|ELAVL4_uc001csa.3_Missense_Mutation_p.G155S|ELAVL4_uc001csc.3_Missense_Mutation_p.G138S|ELAVL4_uc009vyu.2_Missense_Mutation_p.G143S|ELAVL4_uc010omz.1_Missense_Mutation_p.G143S	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	138	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						CTATGTTAGCGGCCTTCCCAA	0.488												
NRD1	4898	broad.mit.edu	37	1	52275032	52275032	+	Missense_Mutation	SNP	C	C	T	rs149040151	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:52275032C>T	uc001ctc.3	-	19	2471	c.2149G>A	c.(2149-2151)GAA>AAA	p.E717K	NRD1_uc009vzb.2_Missense_Mutation_p.E412K|NRD1_uc001ctd.3_Missense_Mutation_p.E649K|NRD1_uc001cte.2_Missense_Mutation_p.E585K|NRD1_uc001ctf.2_Missense_Mutation_p.E649K|NRD1_uc010ong.1_RNA	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	648					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						GGATTTAATTCGAAATTACTA	0.313												
PODN	127435	broad.mit.edu	37	1	53544191	53544191	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:53544191T>C	uc001cuv.2	+	8	1160	c.1153T>C	c.(1153-1155)TAC>CAC	p.Y385H	PODN_uc001cuw.2_Missense_Mutation_p.Y366H|PODN_uc010onr.1_Missense_Mutation_p.Y366H|PODN_uc010ons.1_Missense_Mutation_p.Y243H	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	podocan	337	LRR 11.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			ovary(1)|pancreas(1)	2						CAGCCTGGAGTACCTGCTGCT	0.657												
PCSK9	255738	broad.mit.edu	37	1	55529119	55529119	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:55529119C>A	uc001cyf.1	+	12	2232	c.1941C>A	c.(1939-1941)GCC>GCA	p.A647A	PCSK9_uc010oom.1_RNA	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	647					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TCCTGGGGGCCTACGCCGTAG	0.662												
USP24	23358	broad.mit.edu	37	1	55604663	55604663	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:55604663A>C	uc001cyg.3	-	22	2291	c.2291T>G	c.(2290-2292)ATT>AGT	p.I764S		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	924					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						CAATCTCTCAATTATTACAAG	0.219												
C8B	732	broad.mit.edu	37	1	57420486	57420486	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:57420486G>A	uc001cyp.2	-	4	473	c.406C>T	c.(406-408)CGC>TGC	p.R136C	C8B_uc010oon.1_Missense_Mutation_p.R74C|C8B_uc010ooo.1_Missense_Mutation_p.R84C	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	136	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						AGAAGTCTGCGGTTTACACAC	0.423												
DOCK7	85440	broad.mit.edu	37	1	63119694	63119694	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:63119694C>T	uc001daq.2	-	3	315	c.281G>A	c.(280-282)CGG>CAG	p.R94Q	DOCK7_uc001dan.2_5'Flank|DOCK7_uc001dao.2_5'Flank|DOCK7_uc001dap.2_Missense_Mutation_p.R94Q|DOCK7_uc009wah.1_Missense_Mutation_p.R94Q	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	94					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						TCTGCAGTCCCGAGGACTATA	0.403												
JAK1	3716	broad.mit.edu	37	1	65303751	65303751	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:65303751G>A	uc001dbu.1	-	22	3253	c.3004C>T	c.(3004-3006)CGG>TGG	p.R1002W	JAK1_uc009wam.1_Missense_Mutation_p.R990W|JAK1_uc009wal.1_Missense_Mutation_p.R179W	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	1002	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)		GCCAAGTCCCGGTGAACGTAT	0.408			Mis		ALL							
LRRC7	57554	broad.mit.edu	37	1	70505179	70505179	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:70505179G>A	uc001dep.2	+	19	3588	c.3558G>A	c.(3556-3558)GCG>GCA	p.A1186A	LRRC7_uc009wbg.2_Silent_p.A470A|LRRC7_uc001deq.2_Silent_p.A427A	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1186						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AAGCTCAGGCGGGAAGTTTTC	0.488												
TTLL7	79739	broad.mit.edu	37	1	84408246	84408246	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:84408246A>G	uc001djc.2	-	7	1019	c.623T>C	c.(622-624)ATT>ACT	p.I208T	TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_Intron|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	208	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TGTAACCAGAATATAAATTCG	0.368												
CLCA4	22802	broad.mit.edu	37	1	87045205	87045205	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:87045205C>T	uc009wcs.2	+	13	2335	c.2291C>T	c.(2290-2292)ACA>ATA	p.T764I	CLCA4_uc009wct.2_Missense_Mutation_p.T527I|CLCA4_uc009wcu.2_Missense_Mutation_p.T584I	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	764						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTGATGCCACAGTTCATGAG	0.438												
GBP1	2633	broad.mit.edu	37	1	89525080	89525080	+	Silent	SNP	G	G	A	rs150201512	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:89525080G>A	uc001dmx.2	-	4	568	c.348C>T	c.(346-348)TTC>TTT	p.F116F		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	116					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CGGCCAGGGCGAAGATCCAGG	0.498												
HFM1	164045	broad.mit.edu	37	1	91739282	91739282	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:91739282T>G	uc001doa.3	-	34	3859	c.3759A>C	c.(3757-3759)GAA>GAC	p.E1253D	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.E932D|HFM1_uc001dob.3_Missense_Mutation_p.E441D|HFM1_uc010osv.1_Missense_Mutation_p.E937D	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1253							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGTCTTGATATTCAGATGGTT	0.338												
GFI1	2672	broad.mit.edu	37	1	92941611	92941611	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:92941611C>T	uc001dou.3	-	7	1408	c.1244G>A	c.(1243-1245)CGG>CAG	p.R415Q	GFI1_uc001dov.3_Missense_Mutation_p.R415Q|GFI1_uc001dow.3_Missense_Mutation_p.R415Q	NM_001127215	NP_001120687	Q99684	GFI1_HUMAN	growth factor independent 1	415	C2H2-type 6.				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(1)	1		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CTGCGTCTCCCGGTGCCTTCG	0.607												
ABCA4	24	broad.mit.edu	37	1	94586671	94586671	+	Translation_Start_Site	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:94586671G>A	uc001dqh.2	-	1	35	c.-69C>T	c.(-71--67)AACGG>AATGG		ABCA4_uc010otn.1_Translation_Start_Site	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4						phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATAAACGCCGTTAAGAGCGC	0.498												
ABCD3	5825	broad.mit.edu	37	1	94964360	94964360	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:94964360C>T	uc001dqn.3	+	18	1588	c.1486C>T	c.(1486-1488)CGT>TGT	p.R496C	ABCD3_uc010oto.1_Missense_Mutation_p.R520C|ABCD3_uc010otp.1_Missense_Mutation_p.R423C|ABCD3_uc009wdr.2_Missense_Mutation_p.R386C|ABCD3_uc001dqo.3_Missense_Mutation_p.R184C	NM_002858	NP_002849	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D, member 3	496	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(1)	1		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTTGGAGGACGTCTAACTAA	0.318												
DPYD	1806	broad.mit.edu	37	1	97981499	97981499	+	Splice_Site	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:97981499T>C	uc001drv.2	-	13	1662	c.1525_splice	c.e13-1	p.S509_splice		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1						'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATATTGTGACTGCAAAATACA	0.363												
S1PR1	1901	broad.mit.edu	37	1	101705311	101705311	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:101705311C>T	uc001dud.2	+	2	1285	c.771C>T	c.(769-771)ACC>ACT	p.T257T	S1PR1_uc009weg.2_Silent_p.T257T	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	257	Helical; Name=6; (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						TGCTCAAGACCGTAATTATCG	0.587												
COL11A1	1301	broad.mit.edu	37	1	103428218	103428218	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:103428218T>A	uc001dul.2	-	39	3333	c.3015A>T	c.(3013-3015)GAA>GAT	p.E1005D	COL11A1_uc001duk.2_Missense_Mutation_p.E201D|COL11A1_uc001dum.2_Missense_Mutation_p.E1017D|COL11A1_uc001dun.2_Missense_Mutation_p.E966D|COL11A1_uc009weh.2_Missense_Mutation_p.E889D	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1005	Triple-helical region.				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)		CCTTTGCACCTTCTTTTCCTG	0.473												
NTNG1	22854	broad.mit.edu	37	1	107937908	107937908	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:107937908A>G	uc001dvh.3	+	4	1738	c.1020A>G	c.(1018-1020)CCA>CCG	p.P340P	NTNG1_uc001dvf.3_Silent_p.P340P|NTNG1_uc010out.1_Silent_p.P340P|NTNG1_uc001dvc.3_Silent_p.P340P|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Missense_Mutation_p.R13G|NTNG1_uc001dvd.1_Silent_p.P340P	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	340	Laminin EGF-like 1.				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)		CTTGGAGTCCAGGCTCCTATC	0.473												
AKNAD1	254268	broad.mit.edu	37	1	109377642	109377642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:109377642G>A	uc001dwa.2	-	8	1842	c.1573C>T	c.(1573-1575)CGA>TGA	p.R525*	AKNAD1_uc010ovb.1_Nonsense_Mutation_p.R232*|AKNAD1_uc001dwb.2_Intron	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	525										ovary(3)	3						CCTGAGCCTCGAGGCCCAGAA	0.622												
CELSR2	1952	broad.mit.edu	37	1	109801082	109801082	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:109801082C>T	uc001dxa.3	+	2	3400	c.3339C>T	c.(3337-3339)TGC>TGT	p.C1113C		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1113	Cadherin 9.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCGCCCAGTGCGCGCTGCGTG	0.622												
CELSR2	1952	broad.mit.edu	37	1	109810236	109810236	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:109810236C>T	uc001dxa.3	+	16	6141	c.6080C>T	c.(6079-6081)TCC>TTC	p.S2027F		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2027	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AACTGCACGTCCATCACCTTC	0.587												
ATXN7L2	127002	broad.mit.edu	37	1	110031653	110031653	+	Missense_Mutation	SNP	C	C	T	rs145282300	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:110031653C>T	uc001dxr.2	+	7	983	c.968C>T	c.(967-969)GCG>GTG	p.A323V	ATXN7L2_uc001dxs.2_5'UTR|ATXN7L2_uc001dxt.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	323										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTTGTAGCAGCGGTGGCTGCT	0.612												
AMIGO1	57463	broad.mit.edu	37	1	110050334	110050334	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:110050334G>A	uc001dxx.3	-	2	1583	c.1201C>T	c.(1201-1203)CGG>TGG	p.R401W		NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	AMIGO protein precursor	401	Cytoplasmic (Potential).				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				ovary(1)|breast(1)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TCTACACCCCGGCACCAGCAG	0.547												
GNAI3	2773	broad.mit.edu	37	1	110116577	110116577	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:110116577A>G	uc001dxz.2	+	3	378	c.221A>G	c.(220-222)TAC>TGC	p.Y74C		NM_006496	NP_006487	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein),	74					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			ovary(1)	1		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GTAGTTGTCTACAGCAATACT	0.388												
AMPD2	271	broad.mit.edu	37	1	110170832	110170832	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:110170832G>A	uc009wfh.1	+	11	1912	c.1370G>A	c.(1369-1371)CGG>CAG	p.R457Q	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.R376Q|AMPD2_uc001dyc.1_Missense_Mutation_p.R457Q|AMPD2_uc010ovr.1_Missense_Mutation_p.R382Q|AMPD2_uc010ovs.1_Missense_Mutation_p.R339Q|AMPD2_uc001dyd.1_Missense_Mutation_p.R338Q|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	457					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGACGCTGCGGGAGGTCTTT	0.602												
GSTM4	2948	broad.mit.edu	37	1	110200445	110200445	+	Missense_Mutation	SNP	C	C	A	rs142265412	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:110200445C>A	uc001dyf.2	+	5	625	c.311C>A	c.(310-312)GCT>GAT	p.A104D	GSTM4_uc001dyg.2_5'UTR|GSTM4_uc009wfj.2_Intron|GSTM4_uc001dyh.2_Missense_Mutation_p.A104D|GSTM2_uc001dyi.2_Intron	NM_000850	NP_000841	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4 isoform 1	104	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity				0		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GAGAACCAGGCTATGGACGTC	0.537												
GSTM5	2949	broad.mit.edu	37	1	110259968	110259968	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:110259968A>G	uc001dyn.2	+	8	648	c.577A>G	c.(577-579)AAG>GAG	p.K193E	GSTM5_uc010ovu.1_3'UTR	NM_000851	NP_000842	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	193	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			central_nervous_system(6)	6		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GGGTTTGAAGAAGATCTCTGC	0.547												
KCNA3	3738	broad.mit.edu	37	1	111216190	111216190	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:111216190G>A	uc001dzv.1	-	1	1466	c.1242C>T	c.(1240-1242)AGC>AGT	p.S414S		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	414	Helical; Name=Segment S5; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTAGACCGCGCTGGAGAAAA	0.572												
SLC16A1	6566	broad.mit.edu	37	1	113456694	113456694	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:113456694A>G	uc001ecx.2	-	5	2154	c.1322T>C	c.(1321-1323)ATG>ACG	p.M441T	SLC16A1_uc001ecy.2_Missense_Mutation_p.M441T	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	441	Helical; (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	ATTGATGCCCATGCCAATGAA	0.413												
DENND2C	163259	broad.mit.edu	37	1	115130548	115130548	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:115130548G>A	uc001efd.1	-	19	3159	c.2457C>T	c.(2455-2457)TCC>TCT	p.S819S	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Silent_p.S762S	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	819	dDENN.									skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAATGCTTCGGACACCAGAG	0.423												
CD101	9398	broad.mit.edu	37	1	117554380	117554380	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:117554380C>A	uc010oxb.1	+	3	691	c.633C>A	c.(631-633)CCC>CCA	p.P211P	CD101_uc009whd.2_Silent_p.P211P|CD101_uc010oxc.1_Silent_p.P211P|CD101_uc010oxd.1_Silent_p.P149P	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	211	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TCCCTGGGCCCTTGTATACAG	0.507												
HAO2	51179	broad.mit.edu	37	1	119934795	119934795	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:119934795C>T	uc001ehq.1	+	7	1186	c.834C>T	c.(832-834)GGC>GGT	p.G278G	HAO2_uc001ehr.1_Silent_p.G278G	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2	278	FMN hydroxy acid dehydrogenase.|FMN (By similarity).				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			ovary(2)|skin(2)	4	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ACCTGGATGGCGGGGTCCGAA	0.507												
NBPF7	343505	broad.mit.edu	37	1	120386967	120386967	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:120386967T>C	uc010oxk.1	-	1	813	c.192A>G	c.(190-192)GTA>GTG	p.V64V		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	hypothetical protein LOC343505	64						cytoplasm				ovary(1)|skin(1)	2	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CCATTTGAGTTACAAGAAATT	0.423											OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GJA5	2702	broad.mit.edu	37	1	147231086	147231086	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:147231086C>T	uc001eps.1	-	2	402	c.261G>A	c.(259-261)ACG>ACA	p.T87T	GJA5_uc001ept.1_Silent_p.T87T	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	87	Helical; (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCAGAGAGGGCGTGGAGACGA	0.602												
GJA8	2703	broad.mit.edu	37	1	147380398	147380398	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:147380398C>T	uc001epu.1	+	2	379	c.316C>T	c.(316-318)CGC>TGC	p.R106C		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	106	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					GGAGGAGAAGCGCAAAAGCCG	0.652												
GJA8	2703	broad.mit.edu	37	1	147380608	147380608	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:147380608C>T	uc001epu.1	+	2	589	c.526C>T	c.(526-528)CGG>TGG	p.R176W		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	176	Extracellular (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					GTACGGGTTCCGGATCCTGCC	0.587												
TMOD4	29765	broad.mit.edu	37	1	151144226	151144226	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:151144226A>G	uc001exc.3	-	6	691	c.501T>C	c.(499-501)CCT>CCC	p.P167P	TMOD4_uc001exb.2_Silent_p.P31P|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Silent_p.P98P	NM_013353	NP_037485	Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	167					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATACTTGTCAGGCTGTACCA	0.453												
LINGO4	339398	broad.mit.edu	37	1	151774250	151774250	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:151774250A>G	uc001ezf.1	-	2	1121	c.931T>C	c.(931-933)TGC>CGC	p.C311R		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	311	Extracellular (Potential).|LRR 10.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGTGAGGCATGCCCCTGAC	0.602												
TCHHL1	126637	broad.mit.edu	37	1	152060619	152060619	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:152060619T>G	uc001ezo.1	-	2	66	c.1A>C	c.(1-3)ATG>CTG	p.M1L		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	1							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTGAGGCATCTTTACAAAC	0.453												
HRNR	388697	broad.mit.edu	37	1	152191657	152191657	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:152191657A>G	uc001ezt.1	-	3	2524	c.2448T>C	c.(2446-2448)GGT>GGC	p.G816G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	816	8.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGCCCAAAACCAGAAGCCT	0.577												
HRNR	388697	broad.mit.edu	37	1	152191665	152191665	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:152191665C>T	uc001ezt.1	-	3	2516	c.2440G>A	c.(2440-2442)GCT>ACT	p.A814T		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	814	8.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAACCAGAAGCCTGGCCTGAG	0.567												
HRNR	388697	broad.mit.edu	37	1	152191750	152191750	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:152191750T>C	uc001ezt.1	-	3	2431	c.2355A>G	c.(2353-2355)TCA>TCG	p.S785S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	785	8.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGAGTGCCCTGAACTGGACC	0.607												
HRNR	388697	broad.mit.edu	37	1	152191755	152191755	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:152191755T>C	uc001ezt.1	-	3	2426	c.2350A>G	c.(2350-2352)AGT>GGT	p.S784G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	784	8.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCCTGAACTGGACCCATGT	0.602												
IVL	3713	broad.mit.edu	37	1	152882759	152882759	+	Missense_Mutation	SNP	C	C	G	rs12045716		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:152882759C>G	uc001fau.2	+	2	532	c.486C>G	c.(484-486)CAC>CAG	p.H162Q		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	162	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|1.				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			aggaggggcacctgaagcacc	0.199												
GATAD2B	57459	broad.mit.edu	37	1	153800617	153800617	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:153800617G>A	uc001fdb.3	-	2	451	c.207C>T	c.(205-207)GGC>GGT	p.G69G		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	69						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGACACCACTGCCATCCTGTT	0.478												
CHRNB2	1141	broad.mit.edu	37	1	154544436	154544436	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:154544436C>A	uc001ffg.2	+	5	1401	c.1137C>A	c.(1135-1137)CGC>CGA	p.R379R		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	379	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TCTTCTTCCGCGAAGCCCCAG	0.721												
HCN3	57657	broad.mit.edu	37	1	155257872	155257872	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:155257872G>A	uc001fjz.1	+	8	1951	c.1943G>A	c.(1942-1944)CGC>CAC	p.R648H	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R343H	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	648	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTGCTTGGCGCTCAGCAGGC	0.697												
FDPS	2224	broad.mit.edu	37	1	155290332	155290332	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:155290332T>C	uc001fkc.2	+	11	1411	c.1192T>C	c.(1192-1194)TAC>CAC	p.Y398H	RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.Y332H|FDPS_uc001fke.2_Missense_Mutation_p.Y398H|FDPS_uc001fkf.2_Missense_Mutation_p.Y332H|C1orf104_uc001fkh.1_Intron|C1orf104_uc001fki.2_3'UTR|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank	NM_002004	NP_001995	P14324	FPPS_HUMAN	farnesyl diphosphate synthase isoform a	398					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding				0	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CATTGAACAGTACGCAGCACC	0.557												
MEX3A	92312	broad.mit.edu	37	1	156046378	156046378	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:156046378C>T	uc001fnd.3	-	2	1550	c.1550G>A	c.(1549-1551)CGA>CAA	p.R517Q		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	517						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					GGAGAATATTCGGATGGCTTG	0.587												
BCAN	63827	broad.mit.edu	37	1	156618653	156618653	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:156618653G>T	uc001fpp.2	+	6	1399	c.1063G>T	c.(1063-1065)GAC>TAC	p.D355Y	BCAN_uc001fpo.2_Missense_Mutation_p.D355Y	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	355					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGCTTCCGAGGTGAGCCCAC	0.547												
C1orf92	149499	broad.mit.edu	37	1	156899080	156899080	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:156899080C>A	uc001fqm.2	+	10	1177	c.1005C>A	c.(1003-1005)TCC>TCA	p.S335S	C1orf92_uc001fql.2_Silent_p.S120S	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	hypothetical protein LOC149499	335											0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCCCTCCTCCTCTCGACACG	0.547												
PFDN2	5202	broad.mit.edu	37	1	161071865	161071865	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:161071865C>T	uc001fxu.2	-	3	311	c.261G>A	c.(259-261)CTG>CTA	p.L87L		NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	87					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding				0	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCAAAGCGGGCAGCACCTCTT	0.383												
PFDN2	5202	broad.mit.edu	37	1	161072148	161072148	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:161072148G>A	uc001fxu.2	-	2	143	c.93C>T	c.(91-93)AAC>AAT	p.N31N		NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	31				GFNRLR -> SFNAF (in Ref. 3; AAF36151).	'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding				0	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCCGAAGGCGGTTGAAGCCAG	0.522												
C1orf226	400793	broad.mit.edu	37	1	162353090	162353090	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:162353090A>G	uc001gby.2	+	2	608	c.436A>G	c.(436-438)AGC>GGC	p.S146G	C1orf226_uc010pkt.1_Missense_Mutation_p.S189G	NM_001085375	NP_001078844	A1L170	CA226_HUMAN	hypothetical protein LOC400793 isoform 2	146										ovary(1)	1						GCCTGTCCTCAGCAGTCTGGA	0.612												
LRRC52	440699	broad.mit.edu	37	1	165514118	165514118	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:165514118C>T	uc001gde.2	+	1	641	c.585C>T	c.(583-585)TTC>TTT	p.F195F	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	195	Extracellular (Potential).|LRRCT.					integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TCCTGGACTTCGCCATCTTCT	0.512												
GPA33	10223	broad.mit.edu	37	1	167038311	167038311	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:167038311C>T	uc001gea.1	-	3	607	c.263G>A	c.(262-264)CGC>CAC	p.R88H		NM_005814	NP_005805	Q99795	GPA33_HUMAN	transmembrane glycoprotein A33 precursor	88	Ig-like V-type.|Extracellular (Potential).					integral to plasma membrane	receptor activity				0						TATGCTGACGCGATTCTTATA	0.498												
DUSP27	92235	broad.mit.edu	37	1	167095203	167095203	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:167095203A>G	uc001geb.1	+	5	835	c.835A>G	c.(835-837)ATG>GTG	p.M279V		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	279					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						TGAGAAGTTGATGGAGGAGAG	0.617												
DUSP27	92235	broad.mit.edu	37	1	167095706	167095706	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:167095706C>T	uc001geb.1	+	5	1338	c.1338C>T	c.(1336-1338)CAC>CAT	p.H446H		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	446					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						TGAGCAGCCACGACATCTGGG	0.622												
FMO4	2329	broad.mit.edu	37	1	171303826	171303826	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:171303826C>T	uc001gho.2	+	8	1321	c.1104C>T	c.(1102-1104)ATC>ATT	p.I368I		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	368					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TAGCCATCATCGGCCTTATCG	0.423												
MYOC	4653	broad.mit.edu	37	1	171621376	171621376	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:171621376G>A	uc001ghu.2	-	1	398	c.376C>T	c.(376-378)CGG>TGG	p.R126W	MYOC_uc010pmk.1_Intron	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	126	Potential.		R -> W (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCCCGCTCCCGCCTCAGGGTG	0.622												
TNR	7143	broad.mit.edu	37	1	175355239	175355239	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:175355239C>T	uc001gkp.1	-	6	1787	c.1706G>A	c.(1705-1707)CGA>CAA	p.R569Q	TNR_uc009wwu.1_Missense_Mutation_p.R569Q	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	569	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CACCTCGTATCGGGAGCCAGG	0.627												
RASAL2	9462	broad.mit.edu	37	1	178427092	178427092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:178427092C>T	uc001glr.2	+	12	2367	c.2242C>T	c.(2242-2244)CAG>TAG	p.Q748*	RASAL2_uc001glq.2_Nonsense_Mutation_p.Q889*|RASAL2_uc009wxc.2_Nonsense_Mutation_p.Q262*	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	748					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						CAGCATCAAACAGCTGCGGGA	0.572												
CEP350	9857	broad.mit.edu	37	1	180063631	180063631	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:180063631A>G	uc001gnt.2	+	34	8774	c.8391A>G	c.(8389-8391)ACA>ACG	p.T2797T	CEP350_uc009wxl.2_Silent_p.T2796T|CEP350_uc001gnv.2_Silent_p.T932T|CEP350_uc001gnw.1_Silent_p.T554T|CEP350_uc001gnx.1_Silent_p.T554T	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2797						centrosome|nucleus|spindle				ovary(4)	4						AGAAAGTAACACCCCAAGACC	0.398												
ZNF648	127665	broad.mit.edu	37	1	182026138	182026138	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:182026138C>T	uc001goz.2	-	2	1216	c.1008G>A	c.(1006-1008)CCG>CCA	p.P336P		NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	zinc finger protein 648	336	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGTCTGGACACGGGTAGGGTT	0.632												
LAMC1	3915	broad.mit.edu	37	1	183079647	183079647	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:183079647C>T	uc001gpy.3	+	4	1136	c.879C>T	c.(877-879)AGC>AGT	p.S293S		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	293	Laminin EGF-like 1.				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)	GACACGCAAGCGAGTGTATGA	0.403												
RGL1	23179	broad.mit.edu	37	1	183881272	183881272	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:183881272A>T	uc001gqo.2	+	15	1776	c.1619A>T	c.(1618-1620)AAG>ATG	p.K540M	RGL1_uc010pof.1_Missense_Mutation_p.K345M|RGL1_uc001gqm.2_Missense_Mutation_p.K575M|RGL1_uc010pog.1_Missense_Mutation_p.K538M|RGL1_uc010poh.1_Missense_Mutation_p.K538M|RGL1_uc010poi.1_Missense_Mutation_p.K511M	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	540					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11						GAGCAGCCCAAGTCCACTGCC	0.532												
HMCN1	83872	broad.mit.edu	37	1	186113349	186113349	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:186113349G>A	uc001grq.1	+	90	14198	c.13969G>A	c.(13969-13971)GAA>AAA	p.E4657K	HMCN1_uc001grs.1_Missense_Mutation_p.E226K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4657	TSP type-1 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AACATGCAGCGAAAGTTGTGG	0.488												
ASPM	259266	broad.mit.edu	37	1	197071243	197071243	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:197071243G>A	uc001gtu.2	-	18	7395	c.7138C>T	c.(7138-7140)CAT>TAT	p.H2380Y	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.H228Y	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2380					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CTGAGATAATGCTGCCTCTGC	0.438												
ASPM	259266	broad.mit.edu	37	1	197071489	197071489	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:197071489C>T	uc001gtu.2	-	18	7149	c.6892G>A	c.(6892-6894)GCA>ACA	p.A2298T	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.A146T	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2298					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						CAAAGATGTGCCCGATATTTT	0.368												
CAMSAP1L1	23271	broad.mit.edu	37	1	200708978	200708978	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:200708978G>T	uc001gvl.2	+	1	293	c.23G>T	c.(22-24)AGG>ATG	p.R8M	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.R8M|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.R8M	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	8						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GCAGACCCCAGGGAGATGAGA	0.607												
CAMSAP1L1	23271	broad.mit.edu	37	1	200817781	200817781	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:200817781G>A	uc001gvl.2	+	12	2187	c.1917G>A	c.(1915-1917)TCG>TCA	p.S639S	CAMSAP1L1_uc001gvk.2_Silent_p.S628S|CAMSAP1L1_uc001gvm.2_Silent_p.S612S	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	639						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						AAGATTCTTCGTTGAGAGATT	0.408												
KIF21B	23046	broad.mit.edu	37	1	200969558	200969558	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:200969558C>T	uc001gvs.1	-	11	1962	c.1645G>A	c.(1645-1647)GAG>AAG	p.E549K	KIF21B_uc001gvr.1_Missense_Mutation_p.E549K|KIF21B_uc009wzl.1_Missense_Mutation_p.E549K|KIF21B_uc010ppn.1_Missense_Mutation_p.E549K	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	549	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						TTTAGCCGCTCCAGGTCCTGC	0.687												
CACNA1S	779	broad.mit.edu	37	1	201009086	201009086	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:201009086A>G	uc001gvv.2	-	44	5722	c.5495T>C	c.(5494-5496)CTA>CCA	p.L1832P		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1832	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCTTTCAGTAGCTCTGTTGC	0.607												
CACNA1S	779	broad.mit.edu	37	1	201043696	201043696	+	Silent	SNP	C	C	T	rs61734612		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:201043696C>T	uc001gvv.2	-	14	2228	c.2001G>A	c.(1999-2001)GCG>GCA	p.A667A		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	667	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCAGGCTCTCCGCCTCGGCCA	0.567												
LGR6	59352	broad.mit.edu	37	1	202276473	202276473	+	Silent	SNP	C	C	T	rs146190126	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:202276473C>T	uc001gxu.2	+	14	1224	c.1224C>T	c.(1222-1224)AAC>AAT	p.N408N	LGR6_uc001gxv.2_Silent_p.N356N|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Silent_p.N269N	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	408	LRR 14.|Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						TTAGCTGGAACGCCATCCGGT	0.607												
SYT2	127833	broad.mit.edu	37	1	202568417	202568417	+	Missense_Mutation	SNP	C	C	T	rs142292654	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:202568417C>T	uc001gye.2	-	8	1175	c.982G>A	c.(982-984)GTG>ATG	p.V328M	SYT2_uc010pqb.1_Missense_Mutation_p.V328M|SYT2_uc009xaf.2_Missense_Mutation_p.V158M	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	328	Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TTCTTCTTCACGGTTGTCTTC	0.542												
PPFIA4	8497	broad.mit.edu	37	1	203014629	203014629	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:203014629G>A	uc009xaj.2	+	11	1241	c.1241G>A	c.(1240-1242)CGC>CAC	p.R414H	PPFIA4_uc010pqf.1_5'UTR			O75335	LIPA4_HUMAN	SubName: Full=Liprin alpha4;	178					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						GGCACGGCCCGCCGGGACCTC	0.632												
SLC41A1	254428	broad.mit.edu	37	1	205764134	205764134	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:205764134C>T	uc001hdh.1	-	10	2092	c.1220G>A	c.(1219-1221)CGC>CAC	p.R407H	SLC41A1_uc001hdg.1_Missense_Mutation_p.R28H	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	407						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			skin(2)	2	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCGGGCTGAGCGAGAATTCAC	0.582												
PLXNA2	5362	broad.mit.edu	37	1	208255757	208255757	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:208255757C>A	uc001hgz.2	-	11	3153	c.2395G>T	c.(2395-2397)GTC>TTC	p.V799F		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	799	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGCCGCTTACCTTTCAGGTCC	0.517												
LOC642587	642587	broad.mit.edu	37	1	209605620	209605620	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:209605620G>A	uc009xcn.2	+	4	618	c.235G>A	c.(235-237)GCC>ACC	p.A79T		NM_001104548	NP_001098018			hypothetical protein LOC642587												0				OV - Ovarian serous cystadenocarcinoma(81;0.0422)		cgccaccaccgccgccgccac	0.289												
LAMB3	3914	broad.mit.edu	37	1	209807874	209807874	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:209807874C>T	uc001hhg.2	-	5	872	c.482G>A	c.(481-483)CGC>CAC	p.R161H	LAMB3_uc009xco.2_Missense_Mutation_p.R161H|LAMB3_uc001hhh.2_Missense_Mutation_p.R161H|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Intron	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	161	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCGACCCTGGCGGACCCGAGG	0.627												
RCOR3	55758	broad.mit.edu	37	1	211444619	211444619	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:211444619G>T	uc001hig.2	+	2	264	c.95G>T	c.(94-96)TGG>TTG	p.W32L	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.W90L|RCOR3_uc010psw.1_Missense_Mutation_p.W90L|RCOR3_uc001hif.2_Missense_Mutation_p.W90L	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	32	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)		ATGCTTGTATGGTCTCCATAT	0.353												
TRAF5	7188	broad.mit.edu	37	1	211526725	211526725	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:211526725C>T	uc001hih.2	+	2	204	c.144C>T	c.(142-144)TGC>TGT	p.C48C	TRAF5_uc001hii.2_Silent_p.C48C|TRAF5_uc010psx.1_Silent_p.C48C|TRAF5_uc010psy.1_Silent_p.C48C|TRAF5_uc001hij.2_Silent_p.C48C	NM_004619	NP_004610	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	48	RING-type.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(2)|ovary(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GTGCCTTCTGCCACTCGGTGC	0.572												
TRAF5	7188	broad.mit.edu	37	1	211545647	211545647	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:211545647T>C	uc001hih.2	+	11	1337	c.1277T>C	c.(1276-1278)GTG>GCG	p.V426A	TRAF5_uc001hii.2_Missense_Mutation_p.V426A|TRAF5_uc010psx.1_Missense_Mutation_p.V437A|TRAF5_uc010psy.1_Missense_Mutation_p.V320A|TRAF5_uc001hij.2_Missense_Mutation_p.V426A	NM_004619	NP_004610	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	426	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(2)|ovary(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GGGCACACAGTGTCCATCTTC	0.527												
EPRS	2058	broad.mit.edu	37	1	220191833	220191833	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:220191833G>A	uc001hly.1	-	12	1722	c.1452C>T	c.(1450-1452)GTC>GTT	p.V484V	EPRS_uc010puf.1_Silent_p.V235V|EPRS_uc001hlz.1_Silent_p.V484V|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	484	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CCATGTTCACGACTGAACGTG	0.363												
IARS2	55699	broad.mit.edu	37	1	220300109	220300109	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:220300109C>A	uc001hmc.2	+	14	1865	c.1761C>A	c.(1759-1761)GCC>GCA	p.A587A		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	587					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GCCCTGATGCCTTGGAATATG	0.383												
LEFTY1	10637	broad.mit.edu	37	1	226109287	226109287	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:226109287G>A	uc010pvj.1	-	4	531	c.376C>T	c.(376-378)CGC>TGC	p.R126C	PYCR2_uc001hpp.2_Intron|PYCR2_uc001hpq.2_Missense_Mutation_p.R200C|PYCR2_uc001hpr.2_Missense_Mutation_p.R153C			O75610	LFTY1_HUMAN	SubName: Full=cDNA FLJ54750, moderately similar to Pyrroline-5-carboxylate reductase 2 (EC 1.5.1.2);	Error:Variant_position_missing_in_O75610_after_alignment					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					ATTGCCAGGCGCCGTGGCAAA	0.577												
OBSCN	84033	broad.mit.edu	37	1	228444455	228444455	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:228444455G>A	uc009xez.1	+	15	4457	c.4413G>A	c.(4411-4413)ACG>ACA	p.T1471T	OBSCN_uc001hsn.2_Silent_p.T1471T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1471	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGCCCAGACGGAGGTGATGT	0.652												
OBSCN	84033	broad.mit.edu	37	1	228503650	228503650	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:228503650C>T	uc009xez.1	+	50	13159	c.13115C>T	c.(13114-13116)ACC>ATC	p.T4372I	OBSCN_uc001hsn.2_Missense_Mutation_p.T4372I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4372	Ig-like 45.				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)				GCCGCCCACACCTGGCTGCTG	0.667												
OBSCN	84033	broad.mit.edu	37	1	228550295	228550295	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:228550295C>T	uc009xez.1	+	80	18724	c.18680C>T	c.(18679-18681)GCG>GTG	p.A6227V	OBSCN_uc001hsr.1_Missense_Mutation_p.A856V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6227					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)				CTGGAGCGAGCGGACCAGGAG	0.677												
COG2	22796	broad.mit.edu	37	1	230827305	230827305	+	Missense_Mutation	SNP	G	G	A	rs140155560		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:230827305G>A	uc001htw.2	+	17	2261	c.2110G>A	c.(2110-2112)GAG>AAG	p.E704K	COG2_uc001htx.2_Missense_Mutation_p.E703K|COG2_uc010pwc.1_Missense_Mutation_p.E577K	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	704					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTACTTGGGAGAGCAGGTAAC	0.587												
C1orf198	84886	broad.mit.edu	37	1	230975636	230975636	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:230975636C>T	uc001hub.2	-	4	990	c.946G>A	c.(946-948)GTC>ATC	p.V316I	C1orf198_uc009xfh.1_Missense_Mutation_p.V186I|C1orf198_uc001huc.1_Missense_Mutation_p.V99I|C1orf198_uc001hud.1_Missense_Mutation_p.V278I	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	316											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTCTTCAAGACGACATTACTT	0.358												
TTC13	79573	broad.mit.edu	37	1	231060635	231060635	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:231060635C>A	uc001huf.3	-	14	1704	c.1673G>T	c.(1672-1674)CGG>CTG	p.R558L	TTC13_uc009xfi.2_Missense_Mutation_p.R505L|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.R505L|TTC13_uc009xfk.1_Missense_Mutation_p.R448L	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	558							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTGCATCAACCGTGTCTTCCC	0.418												
PCNXL2	80003	broad.mit.edu	37	1	233152878	233152878	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:233152878G>A	uc001hvl.2	-	27	4863	c.4628C>T	c.(4627-4629)ACG>ATG	p.T1543M	PCNXL2_uc001hvk.1_Missense_Mutation_p.T195M|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1543						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TTTGGGAGACGTTACCATATA	0.388												
ZP4	57829	broad.mit.edu	37	1	238050695	238050695	+	Silent	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:238050695A>C	uc001hym.2	-	5	720	c.720T>G	c.(718-720)ACT>ACG	p.T240T	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	240	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGCCACAGGAAGTAAATGGAA	0.502												
GREM2	64388	broad.mit.edu	37	1	240656370	240656370	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:240656370C>T	uc001hys.2	-	2	686	c.406G>A	c.(406-408)GAG>AAG	p.E136K		NM_022469	NP_071914	Q9H772	GREM2_HUMAN	gremlin 2 precursor	136	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CCGGGGCACTCGAGCTCCACG	0.622												
SDCCAG8	10806	broad.mit.edu	37	1	243433519	243433519	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:243433519C>T	uc001hzw.2	+	2	336	c.180C>T	c.(178-180)GAC>GAT	p.D60D	SDCCAG8_uc010pyk.1_Intron|SDCCAG8_uc010pyl.1_Intron	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	60					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GAAATGAGGACGCCAGGACAG	0.458												
KIF26B	55083	broad.mit.edu	37	1	245847561	245847561	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:245847561G>T	uc001ibf.1	+	11	2725	c.2285G>T	c.(2284-2286)CGG>CTG	p.R762L	KIF26B_uc001ibg.1_Missense_Mutation_p.R380L|KIF26B_uc001ibh.1_Missense_Mutation_p.R4L	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	762					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)			ATGTTGCTGCGGGAGTCTCTG	0.602												
OR2W3	343171	broad.mit.edu	37	1	248059406	248059406	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:248059406A>T	uc001idp.1	+	3	787	c.518A>T	c.(517-519)GAG>GTG	p.E173V	OR2W3_uc010pzb.1_Missense_Mutation_p.E173V	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGCACCACGAGGTGGACCAC	0.652												
OR2T4	127074	broad.mit.edu	37	1	248525177	248525177	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:248525177T>C	uc001ieh.1	+	1	295	c.295T>C	c.(295-297)TCT>CCT	p.S99P		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	99	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGTCAATTGTCTCTCATGGA	0.507												
GDI2	2665	broad.mit.edu	37	10	5827990	5827990	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:5827990G>A	uc001iil.3	-	5	703	c.412C>T	c.(412-414)CGT>TGT	p.R138C	GDI2_uc001iim.3_Missense_Mutation_p.R93C|GDI2_uc009xid.2_Missense_Mutation_p.R142C	NM_001494	NP_001485	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2 isoform 1	138					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity				0						CTGAAGCGACGTTTTTCAAAC	0.368												
UPF2	26019	broad.mit.edu	37	10	11994153	11994153	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:11994153C>T	uc001ila.2	-	14	3420	c.2946G>A	c.(2944-2946)CTG>CTA	p.L982L	UPF2_uc001ilb.2_Silent_p.L982L|UPF2_uc001ilc.2_Silent_p.L982L|UPF2_uc009xiz.1_Silent_p.L982L	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	982	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TTGGTCTTAGCAGTTCTAGTG	0.368												
SEC61A2	55176	broad.mit.edu	37	10	12206310	12206310	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:12206310G>A	uc001ile.2	+	12	1435	c.1288G>A	c.(1288-1290)GCC>ACC	p.A430T	SEC61A2_uc010qbq.1_Missense_Mutation_p.A408T|SEC61A2_uc001ilf.3_Intron|SEC61A2_uc001ilh.3_Intron|SEC61A2_uc001ilg.3_Intron	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Sec61 alpha form 2 isoform a	430	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1		Renal(717;0.228)				GTGCATTGGCGCCCTGTCAGT	0.522												
CUBN	8029	broad.mit.edu	37	10	16911647	16911647	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:16911647G>A	uc001ioo.2	-	59	9494	c.9442C>T	c.(9442-9444)CGG>TGG	p.R3148W	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.R504W	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3148	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATGTCTGCCGGAAAGACATC	0.463												
PTPLA	9200	broad.mit.edu	37	10	17645563	17645563	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:17645563T>C	uc001ipg.2	-	4	514	c.479A>G	c.(478-480)AAA>AGA	p.K160R	PTPLA_uc001iph.1_3'UTR	NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like, member A	160	Lumenal (Potential).				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			central_nervous_system(1)|skin(1)	2						ACTTACTGGTTTTATACTGTG	0.368												
ARMC3	219681	broad.mit.edu	37	10	23295876	23295876	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:23295876C>T	uc001irm.3	+	14	1878	c.1795C>T	c.(1795-1797)CGG>TGG	p.R599W	ARMC3_uc010qcv.1_Missense_Mutation_p.R599W|ARMC3_uc010qcw.1_Missense_Mutation_p.R336W	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	599							binding				0						AAGTGACCTACGGGCTGTACT	0.448												
KIAA1217	56243	broad.mit.edu	37	10	24832428	24832428	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:24832428A>G	uc001iru.3	+	19	4632	c.4229A>G	c.(4228-4230)GAC>GGC	p.D1410G	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.D1093G|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.D246G	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1410					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AAGGGAGAAGACATACAGACG	0.478												
ANKRD26	22852	broad.mit.edu	37	10	27324397	27324397	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:27324397A>G	uc001ith.2	-	24	3151	c.2979T>C	c.(2977-2979)AAT>AAC	p.N993N	ANKRD26_uc001itg.2_Silent_p.N680N|ANKRD26_uc009xku.1_Silent_p.N994N	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	993	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TTTGCTTTTCATTCTCCAGTT	0.378												
NRP1	8829	broad.mit.edu	37	10	33510760	33510760	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:33510760A>G	uc001iwx.3	-	8	1692	c.1169T>C	c.(1168-1170)GTT>GCT	p.V390A	NRP1_uc001iwv.3_Missense_Mutation_p.V390A|NRP1_uc009xlz.2_Missense_Mutation_p.V390A|NRP1_uc001iww.3_Missense_Mutation_p.V209A|NRP1_uc001iwy.3_Missense_Mutation_p.V390A|NRP1_uc001iwz.2_Missense_Mutation_p.V390A|NRP1_uc001ixa.2_Missense_Mutation_p.V390A|NRP1_uc001ixb.1_Missense_Mutation_p.V390A|NRP1_uc001ixc.1_Missense_Mutation_p.V390A	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	390	F5/8 type C 1.|Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	TGCAACCACAACATCTGTGGG	0.413												
BMS1	9790	broad.mit.edu	37	10	43285923	43285923	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:43285923G>T	uc001jaj.2	+	5	958	c.600G>T	c.(598-600)AAG>AAT	p.K200N		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	200					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						AGACAAAGAAGCGATTAAAAC	0.368												
BMS1	9790	broad.mit.edu	37	10	43318580	43318580	+	Silent	SNP	T	T	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:43318580T>A	uc001jaj.2	+	20	3505	c.3147T>A	c.(3145-3147)TCT>TCA	p.S1049S		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	1049					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						TGTTTAATTCTGCCTTGGAAG	0.403												
RBP3	5949	broad.mit.edu	37	10	48390035	48390035	+	Silent	SNP	G	G	A	rs35186791	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:48390035G>A	uc001jez.2	-	1	957	c.843C>T	c.(841-843)CCC>CCT	p.P281P		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	281	4 X approximate tandem repeats.|1.				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)	ACCTGGACACGGGCACCGTGA	0.697												
SLC18A3	6572	broad.mit.edu	37	10	50820281	50820281	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:50820281C>A	uc001jhw.2	+	1	1935	c.1495C>A	c.(1495-1497)CTG>ATG	p.L499M	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	499	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						TGCGGTGCGCCTGCGTGAGCG	0.652												
PCDH15	65217	broad.mit.edu	37	10	55698590	55698590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:55698590G>A	uc001jju.1	-	25	3753	c.3358C>T	c.(3358-3360)CGA>TGA	p.R1120*	PCDH15_uc010qhq.1_Nonsense_Mutation_p.R1125*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.R1120*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.R1132*|PCDH15_uc010qht.1_Nonsense_Mutation_p.R1127*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.R1120*|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R1120*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R1083*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R1049*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.R1125*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R1120*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R1098*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R1098*	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1120	Cadherin 10.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GAAGGAACTCGGAGATTGGCA	0.378										HNSCC(58;0.16)		
BICC1	80114	broad.mit.edu	37	10	60558307	60558307	+	Silent	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:60558307T>G	uc001jki.1	+	11	1515	c.1515T>G	c.(1513-1515)ACT>ACG	p.T505T	BICC1_uc001jkj.1_Silent_p.T146T	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	505					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						TTGCTAATACTTCAAGTGCCA	0.403												
BICC1	80114	broad.mit.edu	37	10	60588648	60588648	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:60588648G>A	uc001jki.1	+	21	2922	c.2922G>A	c.(2920-2922)TGG>TGA	p.W974*		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	974					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						GTGGCCGCTGGTAGCAGCACC	0.537												
RHOBTB1	9886	broad.mit.edu	37	10	62648131	62648131	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:62648131C>T	uc001jli.2	-	7	1733	c.1295G>A	c.(1294-1296)GGC>GAC	p.G432D	RHOBTB1_uc001jlh.2_Missense_Mutation_p.G432D|RHOBTB1_uc001jlj.2_Missense_Mutation_p.G432D|RHOBTB1_uc001jlk.2_Missense_Mutation_p.G432D|RHOBTB1_uc009xpe.1_Missense_Mutation_p.G370D|RHOBTB1_uc001jll.2_Missense_Mutation_p.G182D	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	432					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)					CTGAGCCAGGCCCACCAAATC	0.498												
HK1	3098	broad.mit.edu	37	10	71142514	71142514	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:71142514C>T	uc001jpl.3	+	10	1638	c.1537C>T	c.(1537-1539)CCC>TCC	p.P513S	HK1_uc001jpg.3_Missense_Mutation_p.P501S|HK1_uc001jph.3_Missense_Mutation_p.P517S|HK1_uc001jpi.3_Missense_Mutation_p.P517S|HK1_uc001jpj.3_Missense_Mutation_p.P548S|HK1_uc001jpk.3_Missense_Mutation_p.P512S|HK1_uc009xqd.2_Missense_Mutation_p.P391S	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	513	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						TAAGATGCTGCCCTCCTTCGT	0.637												
HK1	3098	broad.mit.edu	37	10	71154810	71154810	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:71154810C>T	uc001jpl.3	+	16	2425	c.2324C>T	c.(2323-2325)ACG>ATG	p.T775M	HK1_uc001jpg.3_Missense_Mutation_p.T763M|HK1_uc001jph.3_Missense_Mutation_p.T779M|HK1_uc001jpi.3_Missense_Mutation_p.T779M|HK1_uc001jpj.3_Missense_Mutation_p.T810M|HK1_uc001jpk.3_Missense_Mutation_p.T774M	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	775	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						ATCTCTGAGACGCTGAAGACC	0.542												
TSPAN15	23555	broad.mit.edu	37	10	71244904	71244904	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:71244904A>T	uc001jpo.1	+	3	415	c.290A>T	c.(289-291)TAC>TTC	p.Y97F		NM_012339	NP_036471	O95858	TSN15_HUMAN	transmembrane 4 superfamily member 15	97	Helical; (Potential).					integral to plasma membrane|membrane fraction					0						CAGTTCATGTACATCCTTGGG	0.507												
C10orf35	219738	broad.mit.edu	37	10	71392612	71392612	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:71392612G>A	uc001jpq.3	+	4	333	c.163G>A	c.(163-165)GCC>ACC	p.A55T		NM_145306	NP_660349	Q96D05	CJ035_HUMAN	hypothetical protein LOC219738	55						integral to membrane				ovary(1)|skin(1)	2						GCAGGCAGGTGCCAGGCTGGG	0.607												
TYSND1	219743	broad.mit.edu	37	10	71902581	71902581	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:71902581G>A	uc001jqr.2	-	3	1480	c.1326C>T	c.(1324-1326)GGC>GGT	p.G442G	TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_Intron|TYSND1_uc001jqt.2_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	442	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1						GGCCAAAGACGCCAAAGCCCA	0.592												
TYSND1	219743	broad.mit.edu	37	10	71903616	71903616	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:71903616C>T	uc001jqr.2	-	2	1433	c.1279G>A	c.(1279-1281)GCT>ACT	p.A427T	TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_Intron|TYSND1_uc001jqt.2_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	427	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1						AAGTGCTCAGCGGGCACAGGG	0.587												
PRF1	5551	broad.mit.edu	37	10	72360283	72360283	+	Missense_Mutation	SNP	G	G	A	rs34279237		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:72360283G>A	uc009xqg.2	-	2	537	c.376C>T	c.(376-378)CGC>TGC	p.R126C	PRF1_uc001jrf.3_Missense_Mutation_p.R126C	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	126	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						CAGTCGTTGCGGATGCTACGA	0.632			M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis			
ADAMTS14	140766	broad.mit.edu	37	10	72493785	72493785	+	Splice_Site	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:72493785G>A	uc001jrh.2	+	8	1352	c.1352_splice	c.e8+1	p.P451_splice	ADAMTS14_uc001jrg.2_Splice_Site_p.P454_splice|ADAMTS14_uc001jri.1_5'UTR	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1						collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCTACCTCCCGTAGGTCATTC	0.652												
PSAP	5660	broad.mit.edu	37	10	73578796	73578796	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:73578796C>T	uc001jsm.2	-	12	1527	c.1423G>A	c.(1423-1425)GTG>ATG	p.V475M	PSAP_uc001jsl.2_Missense_Mutation_p.V199M	NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	475	Saposin B-type 4.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1						ACCAAGCACACGAAGGAAGGA	0.587												
DLG5	9231	broad.mit.edu	37	10	79576827	79576827	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:79576827G>A	uc001jzk.2	-	19	3882	c.3812C>T	c.(3811-3813)GCG>GTG	p.A1271V	DLG5_uc001jzi.2_Missense_Mutation_p.A26V|DLG5_uc001jzj.2_Missense_Mutation_p.A686V|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.A875V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1271					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)			AATGCGTTCCGCCTTGAACTG	0.498												
CDHR1	92211	broad.mit.edu	37	10	85961676	85961676	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:85961676G>T	uc001kcv.2	+	7	639	c.639G>T	c.(637-639)AAG>AAT	p.K213N	CDHR1_uc001kcw.2_Missense_Mutation_p.K213N|CDHR1_uc009xst.2_Translation_Start_Site	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	213	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						TGGTCGCCAAGGTAACACAGC	0.612												
BMPR1A	657	broad.mit.edu	37	10	88679226	88679226	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:88679226G>T	uc001kdy.2	+	10	1714	c.1166G>T	c.(1165-1167)AGT>ATT	p.S389I		NM_004329	NP_004320	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	389	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8						AAATTCAACAGGTGAGTGGTT	0.373			Mis|N|F			gastrointestinal polyps			Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis			
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:89717672C>T	uc001kfb.2	+	8	1728	c.697C>T	c.(697-699)CGA>TGA	p.R233*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
CPEB3	22849	broad.mit.edu	37	10	93841161	93841161	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:93841161G>A	uc001khw.1	-	9	1958	c.1785C>T	c.(1783-1785)CGC>CGT	p.R595R	CPEB3_uc001khu.1_Silent_p.R604R|CPEB3_uc001khv.1_Silent_p.R581R|CPEB3_uc010qnn.1_Silent_p.R581R	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding	595	RRM 2.						nucleotide binding|RNA binding				0		Colorectal(252;0.0869)				AGAATGCCACGCGGCCAGCAC	0.507												
DNTT	1791	broad.mit.edu	37	10	98078230	98078230	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:98078230G>A	uc001kmf.2	+	2	495	c.325G>A	c.(325-327)GAA>AAA	p.E109K	DNTT_uc001kmg.2_Missense_Mutation_p.E109K	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	109	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CTGGCTGATCGAATGCATAAG	0.473												
CPN1	1369	broad.mit.edu	37	10	101841226	101841226	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:101841226G>A	uc001kql.2	-	1	417	c.157C>T	c.(157-159)CGC>TGC	p.R53C		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	53	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)		TCCACGCTGCGCCCAATGCTG	0.597												
POLL	27343	broad.mit.edu	37	10	103339479	103339479	+	Missense_Mutation	SNP	G	G	A	rs113383598		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:103339479G>A	uc001ktg.1	-	8	2225	c.1459C>T	c.(1459-1461)CGG>TGG	p.R487W	DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Missense_Mutation_p.R160W|POLL_uc001kte.1_Missense_Mutation_p.R179W|POLL_uc001kth.1_Missense_Mutation_p.R212W|POLL_uc001kti.1_Missense_Mutation_p.R487W|POLL_uc001ktj.1_Missense_Mutation_p.R487W|POLL_uc001ktf.2_Missense_Mutation_p.R395W|POLL_uc001ktk.1_Missense_Mutation_p.R226W|POLL_uc010qqa.1_Missense_Mutation_p.R226W|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Missense_Mutation_p.R487W|POLL_uc001ktl.2_Missense_Mutation_p.R399W|POLL_uc010qqc.1_Missense_Mutation_p.R179W	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	DNA-directed DNA polymerase lambda	487	DNA binding.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding				0		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TCCAGGCGCCGGTGCCGCCGC	0.627								DNA_polymerases_(catalytic_subunits)				
TMEM180	79847	broad.mit.edu	37	10	104233581	104233581	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:104233581G>A	uc001kvt.2	+	9	1322	c.1103G>A	c.(1102-1104)CGC>CAC	p.R368H	TMEM180_uc010qql.1_Missense_Mutation_p.R97H|TMEM180_uc010qqm.1_Missense_Mutation_p.R217H	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	368						integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGCAGCAACCGCGTCTTCACT	0.612												
CALHM1	255022	broad.mit.edu	37	10	105218347	105218347	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:105218347C>T	uc001kxe.2	-	1	302	c.162G>A	c.(160-162)GCG>GCA	p.A54A		NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	54	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			ovary(1)	1						GCAGGATGCCCGCGCTGTAGG	0.632												
SORCS3	22986	broad.mit.edu	37	10	107022147	107022147	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:107022147A>T	uc001kyi.1	+	26	3729	c.3502A>T	c.(3502-3504)ATT>TTT	p.I1168F		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1168	Cytoplasmic (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCAGGAGATGATTGGGTCAGT	0.498												
ADD3	120	broad.mit.edu	37	10	111877137	111877137	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:111877137T>C	uc001kyt.3	+	6	838	c.524T>C	c.(523-525)ATT>ACT	p.I175T	ADD3_uc001kys.3_Missense_Mutation_p.I175T|ADD3_uc001kyu.2_Missense_Mutation_p.I175T|ADD3_uc001kyv.2_Missense_Mutation_p.I175T|ADD3_uc001kyw.2_Missense_Mutation_p.I175T	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	175						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATTATAATAATTCCCAGAGGC	0.368												
PDCD4	27250	broad.mit.edu	37	10	112641119	112641119	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:112641119A>G	uc001kzh.2	+	3	415	c.172A>G	c.(172-174)AAG>GAG	p.K58E	PDCD4_uc001kzg.2_Missense_Mutation_p.K47E|PDCD4_uc010qre.1_Missense_Mutation_p.K44E	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	58	Nuclear localization signal (Potential).				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AATTAATGCCAAGGCAAAAAG	0.448												
AFAP1L2	84632	broad.mit.edu	37	10	116060074	116060074	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:116060074G>A	uc001lbn.2	-	15	2137	c.1836C>T	c.(1834-1836)ACC>ACT	p.T612T	AFAP1L2_uc001lbo.2_Silent_p.T612T|AFAP1L2_uc010qse.1_Silent_p.T665T|AFAP1L2_uc001lbp.2_Silent_p.T640T|AFAP1L2_uc001lbr.1_Silent_p.T611T|AFAP1L2_uc001lbm.2_Silent_p.T51T|AFAP1L2_uc010qsd.1_Silent_p.T178T|AFAP1L2_uc001lbq.1_Silent_p.T134T	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	612					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GGATTTTGACGGTGGTGATTC	0.607												
HSPA12A	259217	broad.mit.edu	37	10	118435931	118435931	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:118435931C>T	uc001lct.2	-	11	1474	c.1369G>A	c.(1369-1371)GAT>AAT	p.D457N	HSPA12A_uc001lcu.2_Missense_Mutation_p.D374N	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	457							ATP binding			ovary(1)	1				all cancers(201;0.0158)		ATGATGCTATCGATGGTCGGC	0.557												
EIF3A	8661	broad.mit.edu	37	10	120802226	120802226	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:120802226G>A	uc001ldu.2	-	19	2952	c.2806C>T	c.(2806-2808)CGG>TGG	p.R936W	EIF3A_uc010qsu.1_Missense_Mutation_p.R902W|EIF3A_uc009xzg.1_5'UTR	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	936	Asp-rich.|2; truncated.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CGCCGGGGCCGCTCTTCATCT	0.502												
EIF3A	8661	broad.mit.edu	37	10	120825026	120825026	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:120825026G>A	uc001ldu.2	-	7	1153	c.1007C>T	c.(1006-1008)ACG>ATG	p.T336M	EIF3A_uc010qsu.1_Missense_Mutation_p.T302M	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	336					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGCAATATCCGTACGCTCAGG	0.423												
FGFR2	2263	broad.mit.edu	37	10	123325146	123325146	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:123325146C>T	uc010qtk.1	-	3	829	c.182G>A	c.(181-183)CGC>CAC	p.R61H	FGFR2_uc010qtg.1_Missense_Mutation_p.R61H|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.R61H|FGFR2_uc010qtl.1_Missense_Mutation_p.R61H|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Missense_Mutation_p.R61H|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_Missense_Mutation_p.R80H|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.R80H|FGFR2_uc010qtp.1_Missense_Mutation_p.R80H|FGFR2_uc010qtq.1_Missense_Mutation_p.R80H	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	61	Ig-like C2-type 1.|Extracellular (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			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)	CAACAGGCAGCGCACCTCTAG	0.542		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome			
TACC2	10579	broad.mit.edu	37	10	123842358	123842358	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:123842358G>A	uc001lfv.2	+	4	703	c.343G>A	c.(343-345)GAG>AAG	p.E115K	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.E115K|TACC2_uc010qtv.1_Missense_Mutation_p.E115K	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	115						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)				GCCCTTTGCCGAGTGTCCCCC	0.647												
HTRA1	5654	broad.mit.edu	37	10	124266284	124266284	+	Silent	SNP	G	G	A	rs138702840	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:124266284G>A	uc001lgj.2	+	4	983	c.855G>A	c.(853-855)CCG>CCA	p.P285P		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	285	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TCGGAAGCCCGTTTTCCCTTC	0.612												
DMBT1	1755	broad.mit.edu	37	10	124399763	124399763	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:124399763G>A	uc001lgk.1	+	52	6869	c.6763G>A	c.(6763-6765)GTG>ATG	p.V2255M	DMBT1_uc001lgl.1_Missense_Mutation_p.V2245M|DMBT1_uc001lgm.1_Missense_Mutation_p.V1627M|DMBT1_uc009xzz.1_Missense_Mutation_p.V2254M|DMBT1_uc010qtx.1_Missense_Mutation_p.V975M|DMBT1_uc009yab.1_Missense_Mutation_p.V958M|DMBT1_uc009yac.1_Missense_Mutation_p.V549M	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2255	ZP.		V -> M.		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)				CAATTTTGACGTGAACATTTC	0.463												
STK32C	282974	broad.mit.edu	37	10	134039074	134039074	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:134039074G>A	uc001lle.1	-	6	869	c.729C>T	c.(727-729)GAC>GAT	p.D243D	STK32C_uc001lld.1_Silent_p.D126D|STK32C_uc010quu.1_Silent_p.D256D|STK32C_uc009ybc.1_Silent_p.D126D|STK32C_uc009ybd.1_Silent_p.D126D|STK32C_uc001llb.2_Translation_Start_Site|STK32C_uc001llc.1_RNA	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	243	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|breast(1)	5		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCCGCTCCCCGTCCTTGATGA	0.607												
INPP5A	3632	broad.mit.edu	37	10	134563060	134563060	+	Missense_Mutation	SNP	G	G	A	rs150116834		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:134563060G>A	uc001llp.2	+	10	1020	c.772G>A	c.(772-774)GCC>ACC	p.A258T	INPP5A_uc001llo.1_Missense_Mutation_p.A258T|INPP5A_uc001llq.2_Intron	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	258					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GGTCCGGGCCGCCGACACCAA	0.627												
VENTX	27287	broad.mit.edu	37	10	135053733	135053733	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:135053733C>T	uc010quy.1	+	3	711	c.700C>T	c.(700-702)CGG>TGG	p.R234W		NM_014468	NP_055283	O95231	VENTX_HUMAN	VENT homeobox	234					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TACCCCAGGCCGGCCTTCGCT	0.682												
B4GALNT4	338707	broad.mit.edu	37	11	377226	377226	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:377226C>T	uc001lpb.2	+	14	2112	c.2103C>T	c.(2101-2103)AAC>AAT	p.N701N		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	701	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGACTGGAACGACCTGCGAT	0.706												
RPLP2	6181	broad.mit.edu	37	11	812614	812614	+	Silent	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:812614T>G	uc001lrq.1	+	4	357	c.252T>G	c.(250-252)GCT>GCG	p.A84A	RPLP2_uc001lrr.1_Silent_p.A84A	NM_001004	NP_000995	P05387	RLA2_HUMAN	ribosomal protein P2	84					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCTGCTGCTGGTTCTGCCC	0.632												
MUC6	4588	broad.mit.edu	37	11	1017284	1017284	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:1017284G>A	uc001lsw.2	-	31	5568	c.5517C>T	c.(5515-5517)CAC>CAT	p.H1839H		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1839	Thr-rich.|2.|Approximate repeats.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGATGGAACGTGAGTGGGAA	0.542												
OR51T1	401665	broad.mit.edu	37	11	4903803	4903803	+	Missense_Mutation	SNP	G	G	A	rs144368286		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:4903803G>A	uc010qyp.1	+	1	755	c.755G>A	c.(754-756)CGT>CAT	p.R252H		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGATCCTCCGTACTGTTCTG	0.453												
OR52A5	390054	broad.mit.edu	37	11	5153372	5153372	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:5153372G>A	uc010qyx.1	-	1	501	c.501C>T	c.(499-501)TGC>TGT	p.C167C		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTTTCAGACAGCATTTGATGA	0.448												
OR51B2	79345	broad.mit.edu	37	11	5344773	5344773	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:5344773G>A	uc001mao.1	-	1	810	c.755C>T	c.(754-756)ACA>ATA	p.T252I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCATCACTGTAACATAGAA	0.393												
CCKBR	887	broad.mit.edu	37	11	6292370	6292370	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:6292370C>T	uc001mcp.2	+	5	1134	c.941C>T	c.(940-942)CCG>CTG	p.P314L	CCKBR_uc001mcq.2_Missense_Mutation_p.P242L|CCKBR_uc001mcr.2_Missense_Mutation_p.P314L|CCKBR_uc001mcs.2_Missense_Mutation_p.P383L|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	314	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTCCTGGGCCGGGATCCGGC	0.632												
SMPD1	6609	broad.mit.edu	37	11	6415560	6415560	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:6415560G>T	uc001mcw.2	+	6	1793	c.1619G>T	c.(1618-1620)AGG>ATG	p.R540M	SMPD1_uc001mcv.1_RNA|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.R496M|SMPD1_uc009yew.2_Missense_Mutation_p.R539M	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	538					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CTTCTCTACAGGGCTCGAGAA	0.577												
APBB1	322	broad.mit.edu	37	11	6431940	6431940	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:6431940C>T	uc001mdb.1	-	2	738	c.638G>A	c.(637-639)CGG>CAG	p.R213Q	APBB1_uc001mdc.1_Missense_Mutation_p.R213Q|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	213					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TGCACTGTTCCGCATGCCAAA	0.627												
TPP1	1200	broad.mit.edu	37	11	6638921	6638921	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:6638921C>T	uc001mel.1	-	4	377	c.316G>A	c.(316-318)GCC>ACC	p.A106T	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_Missense_Mutation_p.A106T	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	106					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		TGGGCTCCGGCTGCCAAGAGC	0.547												
SYT9	143425	broad.mit.edu	37	11	7334640	7334640	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:7334640G>A	uc001mfe.2	+	3	749	c.512G>A	c.(511-513)CGA>CAA	p.R171Q	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	171	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AATTCAATCCGAAGACAACTC	0.388												
MICAL2	9645	broad.mit.edu	37	11	12234823	12234823	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:12234823G>A	uc001mjz.2	+	7	1001	c.713G>A	c.(712-714)CGT>CAT	p.R238H	MICAL2_uc010rch.1_Missense_Mutation_p.R238H|MICAL2_uc001mka.2_Missense_Mutation_p.R238H|MICAL2_uc010rci.1_Missense_Mutation_p.R238H|MICAL2_uc001mkb.2_Missense_Mutation_p.R238H|MICAL2_uc001mkc.2_Missense_Mutation_p.R238H|MICAL2_uc001mkd.2_Missense_Mutation_p.R67H	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	238						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		AAAGAATTCCGTGGGAAGCTG	0.443												
ARNTL	406	broad.mit.edu	37	11	13380010	13380010	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:13380010G>A	uc001mkr.2	+	8	659	c.251G>A	c.(250-252)CGT>CAT	p.R84H	ARNTL_uc001mko.2_Missense_Mutation_p.R41H|ARNTL_uc001mkp.2_Missense_Mutation_p.R84H|ARNTL_uc001mkq.2_Missense_Mutation_p.R84H|ARNTL_uc001mks.2_Missense_Mutation_p.R41H|ARNTL_uc001mkt.2_Missense_Mutation_p.R84H|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Missense_Mutation_p.R41H|ARNTL_uc001mkv.1_Missense_Mutation_p.R41H|ARNTL_uc001mkw.2_Missense_Mutation_p.R41H|ARNTL_uc001mkx.2_Missense_Mutation_p.R82H	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	84	Basic motif.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		GAAAAGCGGCGTCGGGATAAA	0.353												
PIK3C2A	5286	broad.mit.edu	37	11	17139208	17139208	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:17139208C>A	uc001mmq.3	-	18	3112	c.3046G>T	c.(3046-3048)GAT>TAT	p.D1016Y	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.D636Y|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	phosphoinositide-3-kinase, class 2 alpha	1016					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10					Phosphatidylserine(DB00144)	TGCAGGGCATCTTTGAGAAGC	0.299												
KCNC1	3746	broad.mit.edu	37	11	17793306	17793306	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:17793306C>T	uc001mnk.3	+	2	720	c.665C>T	c.(664-666)ACG>ATG	p.T222M	KCNC1_uc009yhc.1_Missense_Mutation_p.T222M	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	222						voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						GTGAACAAGACGGAGATCGAG	0.587												
PTPN5	84867	broad.mit.edu	37	11	18750529	18750529	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:18750529G>A	uc001mpd.2	-	15	2081	c.1650C>T	c.(1648-1650)CAC>CAT	p.H550H	IGSF22_uc009yht.2_5'Flank|IGSF22_uc001mpa.2_5'Flank|PTPN5_uc001mpb.2_Silent_p.H518H|PTPN5_uc001mpc.2_Silent_p.H550H|PTPN5_uc001mpe.2_Silent_p.H518H|PTPN5_uc010rdj.1_Silent_p.H494H|PTPN5_uc001mpf.2_Silent_p.H526H|PTPN5_uc010rdk.1_Silent_p.H495H	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	550	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						GGCTCATGACGTGGTGCACAA	0.617												
PTPN5	84867	broad.mit.edu	37	11	18750571	18750571	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:18750571G>A	uc001mpd.2	-	15	2039	c.1608C>T	c.(1606-1608)GGC>GGT	p.G536G	IGSF22_uc009yht.2_5'Flank|IGSF22_uc001mpa.2_5'Flank|PTPN5_uc001mpb.2_Silent_p.G504G|PTPN5_uc001mpc.2_Silent_p.G536G|PTPN5_uc001mpe.2_Silent_p.G504G|PTPN5_uc010rdj.1_Silent_p.G480G|PTPN5_uc001mpf.2_Silent_p.G512G|PTPN5_uc010rdk.1_Silent_p.G481G	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	536	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2						GGATCATGCCGCCCCTGCCCG	0.602												
MRGPRX1	259249	broad.mit.edu	37	11	18955962	18955962	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:18955962C>T	uc001mpg.2	-	1	588	c.370G>A	c.(370-372)GTC>ATC	p.V124I		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	124	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						GGCCACAGGACGGACAGGCAG	0.602												
NAV2	89797	broad.mit.edu	37	11	20005785	20005785	+	Silent	SNP	C	C	T	rs143699420		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:20005785C>T	uc010rdm.1	+	12	3190	c.2829C>T	c.(2827-2829)GAC>GAT	p.D943D	NAV2_uc001mpp.2_Silent_p.D856D|NAV2_uc001mpr.3_Silent_p.D920D	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	943						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GCCTCGGAGACGCTGACAGGT	0.587												
LIN7C	55327	broad.mit.edu	37	11	27523054	27523054	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:27523054G>A	uc001mrl.2	-	3	243	c.216C>T	c.(214-216)AAC>AAT	p.N72N	LIN7C_uc009yii.2_Intron	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C	72					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0						TTGCAGTAGCGTTCGCTCTCA	0.313												
FJX1	24147	broad.mit.edu	37	11	35641478	35641478	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:35641478G>A	uc001mwh.2	+	1	1744	c.1294G>A	c.(1294-1296)GGC>AGC	p.G432S		NM_014344	NP_055159	Q86VR8	FJX1_HUMAN	four jointed box 1 precursor	432						extracellular space					0	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				GGCCAAGTACGGCCGCCGGTC	0.632											OREG0020887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RAG2	5897	broad.mit.edu	37	11	36614878	36614878	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:36614878T>G	uc001mwv.3	-	2	1029	c.841A>C	c.(841-843)AAT>CAT	p.N281H	C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	NM_000536	NP_000527	P55895	RAG2_HUMAN	recombination activating gene 2	281					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			skin(3)|ovary(1)|pancreas(1)	5	all_lung(20;0.226)	all_hematologic(20;0.00756)				CTTTTTTGATTTTCAAGCTGA	0.413									Familial_Hemophagocytic_Lymphohistiocytosis			
ACCSL	390110	broad.mit.edu	37	11	44080011	44080011	+	Splice_Site	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:44080011T>C	uc001mxw.1	+	12	1526	c.1470_splice	c.e12+2	p.K490_splice	ACCSL_uc009ykr.2_Splice_Site_p.K309_splice	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase								1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						TTGAAAAAGGTGTGTTCTGGG	0.532												
TP53I11	9537	broad.mit.edu	37	11	44958448	44958448	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:44958448C>T	uc001myi.2	-	8	845	c.240G>A	c.(238-240)GCG>GCA	p.A80A	TP53I11_uc001myf.1_RNA|TP53I11_uc001myj.2_Silent_p.A80A|TP53I11_uc001myk.2_Silent_p.A80A|TP53I11_uc001myl.2_Silent_p.A80A|TP53I11_uc001mym.2_Silent_p.A27A	NM_006034	NP_006025	O14683	P5I11_HUMAN	p53-induced protein	80	Helical; (Potential).				negative regulation of cell proliferation|response to stress	integral to membrane				ovary(1)	1						GGAAGGCAAGCGCCTGCGGGC	0.647											OREG0020923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PEX16	9409	broad.mit.edu	37	11	45935996	45935996	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:45935996A>G	uc001nbu.2	-	7	877	c.565T>C	c.(565-567)TGG>CGG	p.W189R	PEX16_uc001nbt.2_Missense_Mutation_p.W189R	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	189	Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)		GGAGCTCCCCAGTGCCTGGAG	0.682												
CKAP5	9793	broad.mit.edu	37	11	46818454	46818454	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:46818454C>T	uc001ndi.1	-	12	1485	c.1375G>A	c.(1375-1377)GCA>ACA	p.A459T	CKAP5_uc009ylg.1_Missense_Mutation_p.A345T|CKAP5_uc001ndj.1_Missense_Mutation_p.A459T	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	459	HEAT 3.				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						GCTTCAAATGCGGCATCTCTG	0.398												
OR4A16	81327	broad.mit.edu	37	11	55110922	55110922	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:55110922C>G	uc010rie.1	+	1	246	c.246C>G	c.(244-246)GAC>GAG	p.D82E		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						TGATGATAGACTTACTCTGTG	0.458												
OR4C15	81309	broad.mit.edu	37	11	55321970	55321970	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:55321970A>C	uc010rig.1	+	1	188	c.188A>C	c.(187-189)GAG>GCG	p.E63A		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TTTGTAACTGAGTTTGTCCTC	0.383										HNSCC(20;0.049)		
OR5AR1	219493	broad.mit.edu	37	11	56431942	56431942	+	Silent	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:56431942A>C	uc010rjm.1	+	1	781	c.781A>C	c.(781-783)AGG>CGG	p.R261R		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TATGTACCTGAGGCCAACATC	0.507												
OR5AK2	390181	broad.mit.edu	37	11	56756801	56756801	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:56756801G>A	uc010rjp.1	+	1	413	c.413G>A	c.(412-414)CGA>CAA	p.R138Q		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK,	138	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3						ATCATGTCCCGAACAGTCTGC	0.453												
TNKS1BP1	85456	broad.mit.edu	37	11	57076566	57076566	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:57076566C>T	uc001njr.2	-	5	3931	c.3619G>A	c.(3619-3621)GGC>AGC	p.G1207S	TNKS1BP1_uc001njs.2_Missense_Mutation_p.G1207S|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.G658S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1207	Gly-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				TCCAAACAGCCGGTCAGGTTC	0.577												
P2RX3	5024	broad.mit.edu	37	11	57117242	57117242	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:57117242T>G	uc001nju.2	+	7	651	c.575T>G	c.(574-576)CTT>CGT	p.L192R		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	192	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						GGAAACCTCCTTCCCAACCTG	0.612											OREG0020966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAM111B	374393	broad.mit.edu	37	11	58877138	58877138	+	Missense_Mutation	SNP	G	G	A	rs144133192		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:58877138G>A	uc001nnl.2	+	3	283	c.40G>A	c.(40-42)GCT>ACT	p.A14T	FAM111B_uc001nnm.2_Intron|FAM111B_uc010rko.1_Intron	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	14							catalytic activity			ovary(2)	2						GTCATTTAGCGCTATGGAAGA	0.303												
OR4D11	219986	broad.mit.edu	37	11	59271719	59271719	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:59271719C>T	uc001noa.1	+	1	671	c.671C>T	c.(670-672)ACG>ATG	p.T224M		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ATCCTAATGACGCTGAGGTCT	0.512												
VPS37C	55048	broad.mit.edu	37	11	60901619	60901619	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:60901619G>A	uc001nqv.1	-	3	214	c.154C>T	c.(154-156)CGG>TGG	p.R52W	VPS37C_uc001nqw.1_Missense_Mutation_p.R52W	NM_017966	NP_060436	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37C	52					cellular membrane organization|endosome transport|protein transport	late endosome membrane					0						TCCAAGTTCCGCTCTGCCAGG	0.587												
FEN1	2237	broad.mit.edu	37	11	61563897	61563897	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:61563897G>A	uc001nsg.2	+	2	1436	c.1064G>A	c.(1063-1065)CGC>CAC	p.R355H		NM_004111	NP_004102	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	355					base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			ovary(1)	1						TCAGCTAAGCGCAAGGAGCCA	0.532								Direct_reversal_of_damage|Editing_and_processing_nucleases				
HNRNPUL2	221092	broad.mit.edu	37	11	62488859	62488859	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:62488859T>C	uc001nuw.2	-	9	1712	c.1519A>G	c.(1519-1521)AGC>GGC	p.S507G	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	507					cell killing	nucleus	ATP binding|nucleic acid binding				0						AGGTCTCGGCTTTTGGGGTCC	0.423												
NXF1	10482	broad.mit.edu	37	11	62563573	62563573	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:62563573C>T	uc001nvf.1	-	16	1562	c.1426G>A	c.(1426-1428)GTC>ATC	p.V476I	NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.V519I	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	476	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						AAGGAATTGACGTCGTGCTGG	0.547												
SLC3A2	6520	broad.mit.edu	37	11	62648709	62648709	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:62648709G>A	uc001nwd.2	+	4	741	c.517G>A	c.(517-519)GCA>ACA	p.A173T	SLC3A2_uc001nwb.2_Missense_Mutation_p.A204T|SLC3A2_uc001nwc.2_Missense_Mutation_p.A174T|SLC3A2_uc001nwe.2_Missense_Mutation_p.A142T|SLC3A2_uc001nwf.2_Missense_Mutation_p.A111T|SLC3A2_uc001nwg.2_Missense_Mutation_p.A72T|SLC3A2_uc010rml.1_5'Flank	NM_002394	NP_002385	P08195	4F2_HUMAN	solute carrier family 3, member 2 isoform c	173	Cytoplasmic (Potential).				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding				0						GCTGAAGGTGGCAGGCAGCCC	0.652											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C11orf84	144097	broad.mit.edu	37	11	63594444	63594444	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:63594444C>T	uc001nxt.2	+	6	1215	c.979C>T	c.(979-981)CGC>TGC	p.R327C	C11orf84_uc001nxu.1_RNA	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	327											0						CCAGGTTATCCGCGTGCGGAT	0.677												
MARK2	2011	broad.mit.edu	37	11	63672362	63672362	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:63672362G>A	uc001nxw.2	+	16	2360	c.1781G>A	c.(1780-1782)CGA>CAA	p.R594Q	MARK2_uc001nxx.2_Missense_Mutation_p.R540Q|MARK2_uc001nxy.2_Missense_Mutation_p.R539Q|MARK2_uc001nxv.3_Missense_Mutation_p.R539Q|MARK2_uc001nxz.3_Missense_Mutation_p.R560Q|MARK2_uc009yoy.2_Missense_Mutation_p.R514Q	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	594					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						GTGTCCAGCCGAAGCACCTTC	0.667												
NAA40	79829	broad.mit.edu	37	11	63719965	63719965	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:63719965A>G	uc009yoz.2	+	5	465	c.338A>G	c.(337-339)GAA>GGA	p.E113G	NAA40_uc010rmw.1_Missense_Mutation_p.E73G|NAA40_uc010rmx.1_Missense_Mutation_p.E92G|NAA40_uc010rmy.1_5'Flank	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN	N-acetyltransferase 11	113	N-acetyltransferase.						N-acetyltransferase activity				0						ATCGCGTGGGAAAACAGCTCC	0.572												
OTUB1	55611	broad.mit.edu	37	11	63764867	63764867	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:63764867C>T	uc001nyf.1	+	7	1269	c.665C>T	c.(664-666)GCG>GTG	p.A222V	OTUB1_uc001nyg.1_Missense_Mutation_p.A265V|OTUB1_uc010rmz.1_Missense_Mutation_p.A259V|OTUB1_uc010rna.1_Missense_Mutation_p.A231V|OTUB1_uc009ypa.2_Missense_Mutation_p.A121V|OTUB1_uc009ypb.1_Missense_Mutation_p.A192V	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	otubain 1	222	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)	1						CACATCATTGCGCTGGCCCAG	0.682												
PPP1R14B	26472	broad.mit.edu	37	11	64014017	64014017	+	Silent	SNP	C	C	G	rs1063811		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:64014017C>G	uc001nza.2	-	1	397	c.129G>C	c.(127-129)GGG>GGC	p.G43G		NM_138689	NP_619634	Q96C90	PP14B_HUMAN	protein phosphatase 1 regulatory subunit 14B	43					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity				0						CATCGTCCGCCCCGCCCGGGC	0.572												
PPP1R14B	26472	broad.mit.edu	37	11	64014040	64014040	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:64014040C>T	uc001nza.2	-	1	374	c.106G>A	c.(106-108)GCC>ACC	p.A36T		NM_138689	NP_619634	Q96C90	PP14B_HUMAN	protein phosphatase 1 regulatory subunit 14B	36					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity				0						TCTCCTGCGGCCCCGGGGGGG	0.547												
PLCB3	5331	broad.mit.edu	37	11	64030200	64030200	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:64030200C>T	uc001nzb.2	+	19	2275	c.2275C>T	c.(2275-2277)CGG>TGG	p.R759W	PLCB3_uc009ypg.1_Missense_Mutation_p.R759W|PLCB3_uc009yph.1_Missense_Mutation_p.R692W|PLCB3_uc009ypi.2_Missense_Mutation_p.R759W	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	759	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						TGTTGATACGCGGCGCAAGTA	0.632												
C11orf2	738	broad.mit.edu	37	11	64877351	64877351	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:64877351G>A	uc001ocr.1	+	7	1874	c.1834G>A	c.(1834-1836)GTC>ATC	p.V612I	TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|TM7SF2_uc001ocv.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.V488I	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	612					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						TGTGCGGGCCGTCATGAAGCG	0.652												
CAPN1	823	broad.mit.edu	37	11	64974022	64974022	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:64974022G>A	uc009yqd.1	+	13	1553	c.1442G>A	c.(1441-1443)CGA>CAA	p.R481Q	CAPN1_uc001odf.1_Missense_Mutation_p.R481Q|CAPN1_uc001odg.1_Missense_Mutation_p.R481Q|CAPN1_uc010roa.1_Missense_Mutation_p.R222Q	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	481	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		ATCAACCTGCGAGAGGTCAGC	0.647												
POLA2	23649	broad.mit.edu	37	11	65055240	65055240	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:65055240A>C	uc001odj.2	+	11	1402	c.1060A>C	c.(1060-1062)AGC>CGC	p.S354R	POLA2_uc010rod.1_Missense_Mutation_p.S146R|POLA2_uc001odk.2_Missense_Mutation_p.S51R	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	354					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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)	CACATCTGACAGCATCACGTA	0.493												
FRMD8	83786	broad.mit.edu	37	11	65161866	65161866	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:65161866A>C	uc001odu.3	+	6	743	c.551A>C	c.(550-552)CAG>CCG	p.Q184P	FRMD8_uc009yqj.2_Missense_Mutation_p.Q128P|FRMD8_uc010rof.1_Missense_Mutation_p.Q150P	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	184	FERM.					cytoskeleton	binding			lung(1)|pancreas(1)	2						GGGCCCTACCAGCCCGGCCGG	0.687												
EHBP1L1	254102	broad.mit.edu	37	11	65347646	65347646	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:65347646G>A	uc001oeo.3	+	5	672	c.407G>A	c.(406-408)CGG>CAG	p.R136Q	EHBP1L1_uc001oep.1_5'Flank	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	136										central_nervous_system(1)	1						GTGAGGCTGCGGCTGAAGCCA	0.672												
KCNK7	10089	broad.mit.edu	37	11	65360996	65360996	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:65360996G>A	uc001oes.2	-	2	893	c.669C>T	c.(667-669)GGC>GGT	p.G223G	KCNK7_uc001oeq.2_Silent_p.G223G|KCNK7_uc001oer.2_Silent_p.G223G|KCNK7_uc001oeu.2_Silent_p.G223G	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7 isoform	223						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						GCAGGCTGCGGCCGCGGCCGG	0.657												
RELA	5970	broad.mit.edu	37	11	65422382	65422382	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:65422382G>A	uc001ofg.2	-	11	1263	c.1123C>T	c.(1123-1125)CAG>TAG	p.Q375*	RELA_uc001ofh.2_Nonsense_Mutation_p.Q372*|RELA_uc010ron.1_Nonsense_Mutation_p.Q386*|RELA_uc009yqr.2_Nonsense_Mutation_p.Q322*|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Nonsense_Mutation_p.Q375*	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	375				QISQASALA -> RSARPRLG (in Ref. 2; CAA80524).	anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4						gccgaggcCTGGCTGATCTGC	0.279												
SART1	9092	broad.mit.edu	37	11	65733549	65733549	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:65733549G>A	uc001ogl.2	+	8	933	c.841G>A	c.(841-843)GTG>ATG	p.V281M	SART1_uc010rot.1_Missense_Mutation_p.V123M	NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	281					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				ovary(1)	1						GCCCCCAGGCGTGCTGCAGGA	0.597												
DPP3	10072	broad.mit.edu	37	11	66260284	66260284	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:66260284C>A	uc001oig.1	+	10	1148	c.1086C>A	c.(1084-1086)ACC>ACA	p.T362T	DPP3_uc001oif.1_Silent_p.T362T|DPP3_uc010rpe.1_Silent_p.T351T	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	362					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						GGCCCCCAACCTTTGAGAAGG	0.597												
DPP3	10072	broad.mit.edu	37	11	66263135	66263135	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:66263135G>A	uc001oig.1	+	15	1674	c.1612G>A	c.(1612-1614)GTG>ATG	p.V538M	DPP3_uc001oif.1_Missense_Mutation_p.V538M|DPP3_uc010rpe.1_Missense_Mutation_p.V527M|DPP3_uc001oih.1_5'Flank	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	538					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						TGCGGAGGACGTGATCTACGT	0.617												
TCIRG1	10312	broad.mit.edu	37	11	67815010	67815010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:67815010C>T	uc001one.2	+	11	1384	c.1276C>T	c.(1276-1278)CGA>TGA	p.R426*	TCIRG1_uc001ong.2_Nonsense_Mutation_p.R210*|TCIRG1_uc001onh.2_Nonsense_Mutation_p.R128*|TCIRG1_uc001oni.2_5'UTR|TCIRG1_uc009ysd.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	426	Lumenal (Potential).				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			ovary(1)	1						TGCGGAGAACCGACCGGCTGT	0.657												
CHKA	1119	broad.mit.edu	37	11	67833931	67833931	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:67833931C>T	uc001onj.2	-	8	1195	c.981G>A	c.(979-981)ATG>ATA	p.M327I	CHKA_uc001onk.2_Missense_Mutation_p.M309I	NM_001277	NP_001268	P35790	CHKA_HUMAN	choline kinase alpha isoform a	327					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2					Choline(DB00122)	AATCAATGAGCATCAGTTTCT	0.348												
CLPB	81570	broad.mit.edu	37	11	72040798	72040798	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:72040798C>T	uc001osj.2	-	7	966	c.916G>A	c.(916-918)GCC>ACC	p.A306T	CLPB_uc010rqx.1_Missense_Mutation_p.A261T|CLPB_uc010rqy.1_Missense_Mutation_p.A247T|CLPB_uc001osk.2_Missense_Mutation_p.A276T|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.A105T	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	306	ANK 4.				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						CCTTCTCGGGCATAATCCAAG	0.512												
P2RY2	5029	broad.mit.edu	37	11	72945324	72945324	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:72945324C>T	uc001otj.2	+	3	453	c.120C>T	c.(118-120)TAC>TAT	p.Y40Y	P2RY2_uc001otk.2_Silent_p.Y40Y|P2RY2_uc001otl.2_Silent_p.Y40Y	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	40	Helical; Name=1; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	CTGTGTCCTACGGCGTGGTGT	0.582												
ARHGEF17	9828	broad.mit.edu	37	11	73076806	73076806	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:73076806G>A	uc001otu.2	+	20	5830	c.5809G>A	c.(5809-5811)GGC>AGC	p.G1937S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1937					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GCTGTGGGTGGGCACCAGTGC	0.652												
UCP3	7352	broad.mit.edu	37	11	73712551	73712551	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:73712551C>T	uc001our.2	-	7	1200	c.845G>A	c.(844-846)CGT>CAT	p.R282H		NM_003356	NP_003347	P55916	UCP3_HUMAN	uncoupling protein 3 isoform UCP3L	282	Purine nucleotide binding (By similarity).|Helical; Name=6; (Potential).|Solcar 3.				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			pancreas(1)	1	Breast(11;2.08e-05)					GGATCCCAAACGCAAAAAGGA	0.493												
P4HA3	283208	broad.mit.edu	37	11	74013510	74013510	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:74013510A>G	uc001ouz.2	-	3	514	c.471T>C	c.(469-471)GGT>GGC	p.G157G	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Silent_p.G157G	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	157						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					TCTGAAAGACACCTCGGGCCA	0.557												
MAP6	4135	broad.mit.edu	37	11	75316960	75316960	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:75316960C>T	uc001owu.2	-	3	1274	c.1209G>A	c.(1207-1209)GTG>GTA	p.V403V	MAP6_uc001owv.2_Silent_p.V403V	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	403						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					CCTGGCCTGACACCGCCTGCT	0.532												
LRRC32	2615	broad.mit.edu	37	11	76371225	76371225	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:76371225A>G	uc001oxq.3	-	3	1655	c.1412T>C	c.(1411-1413)CTG>CCG	p.L471P	LRRC32_uc001oxr.3_Missense_Mutation_p.L471P|LRRC32_uc010rsf.1_Missense_Mutation_p.L471P	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	471	LRR 17.|Extracellular (Potential).					integral to plasma membrane					0						AGAAAGGTCCAGCTCAGTCAG	0.647												
B3GNT6	192134	broad.mit.edu	37	11	76750724	76750724	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:76750724G>A	uc001oxw.2	+	2	217	c.129G>A	c.(127-129)CCG>CCA	p.P43P		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	43	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						AGAGGTCCCCGCAGGAGGAGA	0.716											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYO7A	4647	broad.mit.edu	37	11	76916549	76916549	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:76916549G>A	uc001oyb.2	+	40	5795	c.5523G>A	c.(5521-5523)ACG>ACA	p.T1841T	MYO7A_uc001oyc.2_Silent_p.T1803T|MYO7A_uc001oye.2_Intron	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1841	MyTH4 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						GGCTGTGCACGGGCCTTTTCC	0.667												
PIWIL4	143689	broad.mit.edu	37	11	94326704	94326704	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:94326704G>A	uc001pfa.2	+	9	1258	c.1047G>A	c.(1045-1047)TCG>TCA	p.S349S	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	349	PAZ.				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)				TTACTGTATCGGACCTGAATC	0.413												
DYNC2H1	79659	broad.mit.edu	37	11	103027444	103027444	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:103027444C>T	uc001pho.2	+	26	4216	c.4072C>T	c.(4072-4074)CGT>TGT	p.R1358C	DYNC2H1_uc001phn.1_Missense_Mutation_p.R1358C|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1358	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATTTTCGGCCGTGGAGCATT	0.363												
PDGFD	80310	broad.mit.edu	37	11	103866791	103866791	+	Splice_Site	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:103866791A>G	uc001phq.2	-	3	882	c.510_splice	c.e3+1	p.L170_splice	PDGFD_uc001php.2_Splice_Site_p.L164_splice	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1						positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTAAGTACTCACCAGCAAAGA	0.343												
CASP5	838	broad.mit.edu	37	11	104871161	104871161	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:104871161G>A	uc010rva.1	-	6	811	c.779C>T	c.(778-780)ACG>ATG	p.T260M	CASP5_uc010ruz.1_Missense_Mutation_p.T273M|CASP5_uc010rvb.1_Missense_Mutation_p.T202M|CASP5_uc010rvc.1_Missense_Mutation_p.T118M|CASP5_uc009yxh.2_Missense_Mutation_p.T42M|CASP5_uc010rvd.1_Missense_Mutation_p.T42M	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	260					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TACCAAGAACGTGCTGTCAGA	0.468												
RAB39	54734	broad.mit.edu	37	11	107799374	107799374	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:107799374G>A	uc001pjt.2	+	1	98	c.80G>A	c.(79-81)CGC>CAC	p.R27H		NM_017516	NP_059986	Q14964	RB39A_HUMAN	RAB39, member RAS oncogene family	27					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0				BRCA - Breast invasive adenocarcinoma(274;3.04e-05)|Epithelial(105;8.56e-05)|all cancers(92;0.00179)		CTCCTGCACCGCTTCACCCAG	0.687												
CUL5	8065	broad.mit.edu	37	11	107975052	107975052	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:107975052G>A	uc001pjv.2	+	19	2951	c.2284G>A	c.(2284-2286)GAG>AAG	p.E762K	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	762					cell cycle arrest|cell proliferation|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|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GTGGCTAATAGAGCACAAATA	0.303												
ATM	472	broad.mit.edu	37	11	108202191	108202191	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:108202191A>G	uc001pkb.1	+	51	7921	c.7536A>G	c.(7534-7536)CCA>CCG	p.P2512P	ATM_uc009yxr.1_Silent_p.P2512P|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_RNA|ATM_uc001pke.1_Silent_p.P1164P|ATM_uc001pkg.1_Silent_p.P869P	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2512	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGAAGATTCCAACATATAAAT	0.333			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
UBE4A	9354	broad.mit.edu	37	11	118245730	118245730	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:118245730C>T	uc001psw.2	+	9	1365	c.1236C>T	c.(1234-1236)GGC>GGT	p.G412G	UBE4A_uc001psv.2_Silent_p.G419G	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	412					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CAAATGCAGGCCGCACCAAGA	0.448												
MLL	4297	broad.mit.edu	37	11	118343854	118343854	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:118343854C>T	uc001pta.2	+	3	2003	c.1980C>T	c.(1978-1980)GAC>GAT	p.D660D	MLL_uc001ptb.2_Silent_p.D660D|MLL_uc001psz.1_Silent_p.D693D|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	660					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)		CTCCCGAGGACGTTGGCTTTG	0.458			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							
MLL	4297	broad.mit.edu	37	11	118379895	118379895	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:118379895C>T	uc001pta.2	+	29	10894	c.10871C>T	c.(10870-10872)GCA>GTA	p.A3624V	MLL_uc001ptb.2_Missense_Mutation_p.A3627V	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3624					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)		CAAAATCCAGCAAATGAACAA	0.269			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							
ARCN1	372	broad.mit.edu	37	11	118451978	118451978	+	Silent	SNP	G	G	A	rs142869705	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:118451978G>A	uc001ptq.2	+	2	182	c.21G>A	c.(19-21)GCG>GCA	p.A7A	ARCN1_uc009zah.2_Silent_p.A7A|ARCN1_uc010ryg.1_Intron|ARCN1_uc009zag.2_Silent_p.A48A	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	7					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGGCAGCAGCGGTCTGCACAA	0.428												
HYOU1	10525	broad.mit.edu	37	11	118922809	118922809	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:118922809C>T	uc001puu.2	-	11	1391	c.1198G>A	c.(1198-1200)GTG>ATG	p.V400M	HYOU1_uc001put.2_Missense_Mutation_p.V365M|HYOU1_uc010ryu.1_Missense_Mutation_p.V420M|HYOU1_uc010ryv.1_Missense_Mutation_p.V289M|HYOU1_uc001pux.3_Missense_Mutation_p.V400M|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.V400M	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	400						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)		CACTTGCCCACGGCCTTCAGC	0.632												
HINFP	25988	broad.mit.edu	37	11	119003254	119003254	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:119003254G>A	uc001pvp.2	+	7	914	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	HINFP_uc001pvq.2_Missense_Mutation_p.R242Q|HINFP_uc001pvr.2_5'UTR	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	242	C2H2-type 5.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						GCCACAGAGCGGCTATTGCGG	0.592												
MCAM	4162	broad.mit.edu	37	11	119183610	119183610	+	Silent	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:119183610G>T	uc001pwf.2	-	6	638	c.609C>A	c.(607-609)ACC>ACA	p.T203T	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	203	Ig-like V-type 2.|Extracellular (Potential).				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TACTCTGCAAGGTGTACAAAC	0.557												
USP2	9099	broad.mit.edu	37	11	119243475	119243475	+	Missense_Mutation	SNP	G	G	A	rs144635804	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:119243475G>A	uc001pwm.3	-	2	1011	c.716C>T	c.(715-717)ACG>ATG	p.T239M	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	239					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		ACCCTTTCCCGTCTCCCACAG	0.662												
ARHGEF12	23365	broad.mit.edu	37	11	120322250	120322250	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:120322250C>T	uc001pxl.1	+	22	1880	c.1873C>T	c.(1873-1875)CGC>TGC	p.R625C	ARHGEF12_uc009zat.2_Missense_Mutation_p.R606C|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R522C|ARHGEF12_uc009zau.1_Missense_Mutation_p.R522C	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	625					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ACAGAAGGCGCGCCACCCTAA	0.408			T	MLL	AML							
UBASH3B	84959	broad.mit.edu	37	11	122678880	122678880	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:122678880G>A	uc001pyi.3	+	13	2168	c.1808G>A	c.(1807-1809)CGA>CAA	p.R603Q		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	603	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CAAATGGTCCGAAAGGTAATT	0.473												
C11orf63	79864	broad.mit.edu	37	11	122795636	122795636	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:122795636C>T	uc001pym.2	+	4	1193	c.896C>T	c.(895-897)ACG>ATG	p.T299M		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	299										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACAGACAAGACGTCTATTCAG	0.313												
OR8D4	338662	broad.mit.edu	37	11	123777975	123777975	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:123777975C>A	uc010saa.1	+	1	837	c.837C>A	c.(835-837)ACC>ACA	p.T279T		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	279	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TATTTTATACCACTGTGATTC	0.363												
OR6T1	219874	broad.mit.edu	37	11	123814164	123814164	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:123814164G>A	uc010sab.1	-	1	382	c.382C>T	c.(382-384)CGA>TGA	p.R128*		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CGGAGTGGTCGGCAGATTGCC	0.542												
VWA5A	4013	broad.mit.edu	37	11	124006953	124006953	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:124006953A>G	uc001pzu.2	+	13	1686	c.1477A>G	c.(1477-1479)AGG>GGG	p.R493G	VWA5A_uc001pzt.2_Missense_Mutation_p.R493G	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	493										upper_aerodigestive_tract(1)|ovary(1)	2						TGTCATCTTTAGGGGTCAGAG	0.498												
SLC37A2	219855	broad.mit.edu	37	11	124951749	124951749	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:124951749G>A	uc001qbn.2	+	9	1083	c.832G>A	c.(832-834)GGG>AGG	p.G278R	SLC37A2_uc010sau.1_Missense_Mutation_p.G278R|SLC37A2_uc010sav.1_5'Flank|SLC37A2_uc001qbp.2_5'Flank	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glycerol-3-phosphate	278					carbohydrate transport|transmembrane transport	integral to membrane				ovary(2)	2	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		ATGCTCCAAGGGGCCATGCGA	0.572												
HYLS1	219844	broad.mit.edu	37	11	125769531	125769531	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:125769531C>T	uc009zbv.2	+	4	802	c.268C>T	c.(268-270)CGA>TGA	p.R90*	HYLS1_uc001qcx.3_Nonsense_Mutation_p.R90*|PUS3_uc001qcy.2_Intron	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	90						centrosome|nucleus				upper_aerodigestive_tract(1)	1	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CCAAAGACTCCGAAAGCCAGT	0.483												
C11orf45	219833	broad.mit.edu	37	11	128774454	128774454	+	Missense_Mutation	SNP	G	G	A	rs143711749		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:128774454G>A	uc001qeu.2	-	2	202	c.8C>T	c.(7-9)ACG>ATG	p.T3M	KCNJ5_uc001qet.2_Intron|KCNJ5_uc009zck.2_Intron|C11orf45_uc009zcl.2_Missense_Mutation_p.T3M|C11orf45_uc001qev.2_Missense_Mutation_p.T3M	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	hypothetical protein LOC219833 precursor	3						extracellular region					0	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		gaccagccgcgtcaacatcac	0.04												
ADAMTS15	170689	broad.mit.edu	37	11	130318984	130318984	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:130318984G>A	uc010scd.1	+	1	116	c.116G>A	c.(115-117)CGC>CAC	p.R39H		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	39					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	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;0.0631)|Lung(977;0.215)		AACGGCCGCCGCTACTACTGG	0.602												
NCAPD3	23310	broad.mit.edu	37	11	134073581	134073581	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:134073581G>A	uc001qhd.1	-	11	2042	c.1436C>T	c.(1435-1437)GCG>GTG	p.A479V	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	479					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACTCTCCGACGCACTGGTAAC	0.488												
CACNA1C	775	broad.mit.edu	37	12	2778099	2778099	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:2778099C>T	uc009zdu.1	+	40	5081	c.4768C>T	c.(4768-4770)CGC>TGC	p.R1590C	CACNA1C_uc009zdv.1_Missense_Mutation_p.R1539C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1531C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1531C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1529C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1564C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1531C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1590C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1562C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1559C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1570C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1542C|CACNA1C_uc001qki.1_Missense_Mutation_p.R1278C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R1278C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R1278C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R1267C|CACNA1C_uc010sea.1_Missense_Mutation_p.R233C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1590	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)	TCGCCTGCAGCGCCTGGTCTC	0.507												
TSPAN9	10867	broad.mit.edu	37	12	3392232	3392232	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:3392232A>G	uc001qlp.2	+	9	817	c.670A>G	c.(670-672)ATG>GTG	p.M224V		NM_006675	NP_006666	O75954	TSN9_HUMAN	tetraspanin 9	224	Helical; (Potential).					integral to plasma membrane|membrane fraction				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GGCCTTCTCCATGACCCTCTT	0.652												
FGF6	2251	broad.mit.edu	37	12	4554481	4554481	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:4554481G>A	uc001qmr.1	-	1	300	c.256C>T	c.(256-258)CGG>TGG	p.R86W		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	86					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TAGAGCCTCCGCTGCCGCTTG	0.652												
KCNA6	3742	broad.mit.edu	37	12	4920011	4920011	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:4920011G>A	uc001qng.2	+	1	1670	c.804G>A	c.(802-804)ACG>ACA	p.T268T		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	268	Helical; Name=Segment S2; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						TGGTGGAGACGCTGTGCATTG	0.562										HNSCC(72;0.22)		
ANO2	57101	broad.mit.edu	37	12	5687562	5687562	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:5687562G>A	uc001qnm.2	-	22	2428	c.2356C>T	c.(2356-2358)CGG>TGG	p.R786W		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	791	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						GCATCCGGCCGTCTCAGCTCT	0.562												
NCAPD2	9918	broad.mit.edu	37	12	6637360	6637360	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:6637360G>T	uc001qoo.2	+	25	3211	c.3165G>T	c.(3163-3165)CAG>CAT	p.Q1055H	NCAPD2_uc009zen.1_Missense_Mutation_p.Q927H|NCAPD2_uc010sfd.1_Missense_Mutation_p.Q1010H	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1055					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						GCGACTCCCAGCTTCGTCTTC	0.532												
IFFO1	25900	broad.mit.edu	37	12	6657677	6657677	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:6657677G>T	uc001qpd.1	-	6	1298	c.1264C>A	c.(1264-1266)CTG>ATG	p.L422M	IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Missense_Mutation_p.L62M|IFFO1_uc001qpb.1_Missense_Mutation_p.L99M|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.L433M|IFFO1_uc001qpf.1_Missense_Mutation_p.L425M|IFFO1_uc001qoz.1_Missense_Mutation_p.L62M|IFFO1_uc001qpc.1_Missense_Mutation_p.L425M|IFFO1_uc001qpg.2_Missense_Mutation_p.L62M	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	422						intermediate filament					0						TCCCAAGTCAGGCTGTCACAG	0.627												
C12orf53	196500	broad.mit.edu	37	12	6806943	6806943	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:6806943C>T	uc001qqf.1	-	3	109	c.33G>A	c.(31-33)CTG>CTA	p.L11L	C12orf53_uc001qqg.1_Silent_p.L11L	NM_153685	NP_710152	Q8IYJ0	CL053_HUMAN	hypothetical protein LOC196500 precursor	11						integral to membrane					0						GGAGGTGGGACAGCAGCAGCG	0.657												
COPS7A	50813	broad.mit.edu	37	12	6838466	6838466	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:6838466G>A	uc001qqj.2	+	5	620	c.381G>A	c.(379-381)CAG>CAA	p.Q127Q	COPS7A_uc009zex.2_Intron|COPS7A_uc001qqk.2_Silent_p.Q127Q|COPS7A_uc001qql.2_RNA|COPS7A_uc001qqh.2_Silent_p.Q127Q|COPS7A_uc001qqi.2_Silent_p.Q127Q|COPS7A_uc001qqm.2_RNA|COPS7A_uc001qqn.3_Silent_p.Q127Q|COPS7A_uc001qqo.2_Silent_p.Q127Q	NM_001164094	NP_001157566	Q9UBW8	CSN7A_HUMAN	COP9 complex subunit 7a	127	PCI.				cullin deneddylation	cytoplasm|signalosome				ovary(1)	1						ATGTGCGGCAGCTGGAAGACC	0.597												
A2ML1	144568	broad.mit.edu	37	12	8995814	8995814	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:8995814T>C	uc001quz.3	+	12	1431	c.1333T>C	c.(1333-1335)TTC>CTC	p.F445L	A2ML1_uc001qva.1_Missense_Mutation_p.F25L|A2ML1_uc010sgm.1_5'Flank	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	289						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						CCTGCGACCCTTCTACAGCAC	0.498												
CLEC7A	64581	broad.mit.edu	37	12	10271122	10271122	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:10271122C>T	uc001qxg.2	-	6	866	c.679G>A	c.(679-681)GTC>ATC	p.V227I	CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Missense_Mutation_p.V181I|CLEC7A_uc001qxh.2_Missense_Mutation_p.S141N|CLEC7A_uc001qxi.2_Missense_Mutation_p.S187N|CLEC7A_uc001qxj.2_Missense_Mutation_p.V148I|CLEC7A_uc009zhg.1_RNA|CLEC7A_uc001qxk.1_RNA	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	dendritic cell-associated C-type lectin 1	227	C-type lectin.|Extracellular (Potential).				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)	1						TCATAAATGACTGACACGTGA	0.383												
GABARAPL1	23710	broad.mit.edu	37	12	10370690	10370690	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:10370690G>T	uc001qxs.2	+	2	359	c.119G>T	c.(118-120)AGG>ATG	p.R40M	GABARAPL1_uc010shb.1_Missense_Mutation_p.R40M|GABARAPL1_uc001qxt.2_RNA|GABARAPL1_uc001qxu.2_RNA	NM_031412	NP_113600	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	40	Interaction with GABRG2 (By similarity).					autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding				0						CCAAAAGCCAGGGTGCCTGAT	0.473												
CSDA	8531	broad.mit.edu	37	12	10862590	10862590	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:10862590G>A	uc001qyt.2	-	6	940	c.697C>T	c.(697-699)CGG>TGG	p.R233W	CSDA_uc001qyu.2_Intron	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	233					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)					CGCCGCTGCCGGTACTGAGGG	0.607												
TAS2R19	259294	broad.mit.edu	37	12	11174837	11174837	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:11174837T>C	uc010shj.1	-	1	334	c.334A>G	c.(334-336)AAT>GAT	p.N112D	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176888	NP_795369	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	112	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1						TTGGAGAAATTGGCAATCTTG	0.413												
ETV6	2120	broad.mit.edu	37	12	12022526	12022526	+	Missense_Mutation	SNP	G	G	A	rs111871763		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:12022526G>A	uc001qzz.2	+	5	906	c.632G>A	c.(631-633)CGC>CAC	p.R211H	ETV6_uc001raa.1_Missense_Mutation_p.R4H	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	211						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ATGATCCGCCGCCTCTCCCCG	0.627			T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL							
KIAA1467	57613	broad.mit.edu	37	12	13211445	13211445	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:13211445T>C	uc001rbi.2	+	3	517	c.494T>C	c.(493-495)CTT>CCT	p.L165P	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	165						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CGTGATGTGCTTCTCTCCTTT	0.473												
ATF7IP	55729	broad.mit.edu	37	12	14591099	14591099	+	Silent	SNP	G	G	A	rs61754406		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:14591099G>A	uc001rbw.2	+	5	1985	c.1827G>A	c.(1825-1827)GCG>GCA	p.A609A	ATF7IP_uc010shs.1_Silent_p.A608A|ATF7IP_uc001rbu.2_Silent_p.A609A|ATF7IP_uc001rbv.1_Silent_p.A608A|ATF7IP_uc001rbx.2_Silent_p.A608A|ATF7IP_uc010sht.1_Silent_p.A609A|ATF7IP_uc001rby.3_Silent_p.A609A|ATF7IP_uc001rca.2_Silent_p.A609A	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	609	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						AATTGTGTGCGCTGCAGTGTG	0.368												
ATF7IP	55729	broad.mit.edu	37	12	14613453	14613453	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:14613453C>A	uc001rbw.2	+	9	2341	c.2183C>A	c.(2182-2184)CCT>CAT	p.P728H	ATF7IP_uc010shs.1_Silent_p.S697S|ATF7IP_uc001rbu.2_Missense_Mutation_p.P728H|ATF7IP_uc001rbv.1_Missense_Mutation_p.P727H|ATF7IP_uc001rbx.2_Missense_Mutation_p.P727H|ATF7IP_uc010sht.1_Silent_p.S698S|ATF7IP_uc001rby.3_Missense_Mutation_p.P728H|ATF7IP_uc001rca.2_Missense_Mutation_p.P728H	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	728	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						CTTGTCACTCCTCCAGCAGTT	0.393												
EPS8	2059	broad.mit.edu	37	12	15777192	15777192	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:15777192T>C	uc009zif.2	-	19	2288	c.2194A>G	c.(2194-2196)ACG>GCG	p.T732A	EPS8_uc001rdb.2_Missense_Mutation_p.T732A|EPS8_uc009zig.2_Missense_Mutation_p.T472A|EPS8_uc010shv.1_Missense_Mutation_p.T472A	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	732					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TGTAACCACGTCTTCACATCC	0.448												
LST-3TM12	338821	broad.mit.edu	37	12	21172239	21172239	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:21172239A>C	uc010sin.1	+	2	143	c.143A>C	c.(142-144)AAG>ACG	p.K48T	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	48						membrane	transporter activity				0						CACAGACCGAAGTTAATTGGA	0.333												
SSPN	8082	broad.mit.edu	37	12	26348818	26348818	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:26348818C>A	uc001rhe.2	+	1	313	c.213C>A	c.(211-213)GGC>GGA	p.G71G	SSPN_uc001rhd.2_Intron|SSPN_uc009zjf.2_Silent_p.G71G|SSPN_uc001rhf.3_Silent_p.G71G	NM_005086	NP_005077	Q14714	SSPN_HUMAN	sarcospan isoform 1	71	Helical; (Potential).				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle					0	Colorectal(261;0.0847)					CCGTGGTGGGCTTCCTCATGG	0.632												
ARNTL2	56938	broad.mit.edu	37	12	27533274	27533274	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:27533274G>A	uc001rht.1	+	5	439	c.421G>A	c.(421-423)GCG>ACG	p.A141T	ARNTL2_uc001rhw.2_Missense_Mutation_p.A104T|ARNTL2_uc010sjp.1_Missense_Mutation_p.A104T|ARNTL2_uc001rhu.1_Missense_Mutation_p.A127T|ARNTL2_uc009zji.1_Missense_Mutation_p.A107T|ARNTL2_uc001rhv.1_Missense_Mutation_p.A93T	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear	141	Helix-loop-helix motif.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|skin(1)	2	Colorectal(261;0.0847)|Lung SC(9;0.184)					CAACCCCATGGCGCGTAAACT	0.418												
BICD1	636	broad.mit.edu	37	12	32458629	32458629	+	Splice_Site	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:32458629A>G	uc001rku.2	+	4	661	c.580_splice	c.e4-2	p.V194_splice	BICD1_uc001rkv.2_Splice_Site_p.V194_splice|BICD1_uc010skd.1_Splice_Site	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1						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)			TGTCTGATTCAGGTTGAATAC	0.388												
LRRK2	120892	broad.mit.edu	37	12	40758785	40758785	+	Silent	SNP	T	T	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:40758785T>A	uc001rmg.3	+	49	7444	c.7323T>A	c.(7321-7323)ACT>ACA	p.T2441T	LRRK2_uc009zjw.2_Silent_p.T1279T|LRRK2_uc001rmi.2_Silent_p.T1274T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2441					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATCTTTCAACTCGTCGACTTA	0.398											OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
ANO6	196527	broad.mit.edu	37	12	45814889	45814889	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:45814889C>T	uc001roo.2	+	18	2588	c.2253C>T	c.(2251-2253)CCC>CCT	p.P751P	ANO6_uc010sld.1_Silent_p.P751P|ANO6_uc010sle.1_Silent_p.P751P|ANO6_uc010slf.1_Silent_p.P772P|ANO6_uc010slg.1_Silent_p.P733P	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	751	Extracellular (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						ACATGATCCCCCGCCTAGTGT	0.418												
FAM113B	91523	broad.mit.edu	37	12	47630017	47630017	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:47630017C>T	uc001rpn.2	+	4	1902	c.1171C>T	c.(1171-1173)CGG>TGG	p.R391W	FAM113B_uc001rpq.2_Missense_Mutation_p.R391W	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	391	Pro-rich.						hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					CCGTTATCAGCGGCCTGCCCC	0.587												
COL2A1	1280	broad.mit.edu	37	12	48376705	48376705	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:48376705G>A	uc001rqu.2	-	33	2300	c.2119C>T	c.(2119-2121)CGT>TGT	p.R707C	COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.R638C	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	707	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGAGAGCCACGTTCACCTGGG	0.637												
SENP1	29843	broad.mit.edu	37	12	48441828	48441828	+	Silent	SNP	G	G	A	rs35097848	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:48441828G>A	uc001rqx.2	-	15	2093	c.1647C>T	c.(1645-1647)TAC>TAT	p.Y549Y	SENP1_uc001rqw.2_Silent_p.Y549Y|SENP1_uc001rqy.2_Silent_p.Y350Y|SENP1_uc001rqz.2_Silent_p.Y350Y|SENP1_uc009zkx.2_Silent_p.Y549Y	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	549	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CCATGGAGTCGTAATAGGTAA	0.378												
DNAJC22	79962	broad.mit.edu	37	12	49743098	49743098	+	Missense_Mutation	SNP	G	G	A	rs140061344	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:49743098G>A	uc001rua.2	+	2	844	c.443G>A	c.(442-444)CGC>CAC	p.R148H	DNAJC22_uc001rub.2_Missense_Mutation_p.R148H	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	148	Helical; (Potential).				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						TTCTATGGCCGCCCCATAGCC	0.562												
FMNL3	91010	broad.mit.edu	37	12	50039660	50039660	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:50039660G>A	uc001ruv.1	-	26	3256	c.3022C>T	c.(3022-3024)CGC>TGC	p.R1008C	FMNL3_uc001ruw.1_Missense_Mutation_p.R957C|FMNL3_uc001rut.1_Missense_Mutation_p.R574C|FMNL3_uc001ruu.1_3'UTR	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	formin-like 3 isoform 1	1008					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(2)|pancreas(2)	4						GCTTGGTGGCGAACAACCATA	0.647												
NCKAP5L	57701	broad.mit.edu	37	12	50185747	50185747	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:50185747G>A	uc009zlk.2	-	13	4082	c.3880C>T	c.(3880-3882)CCC>TCC	p.P1294S	NCKAP5L_uc001rvc.3_Missense_Mutation_p.P498S|NCKAP5L_uc001rvb.2_3'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1290										central_nervous_system(1)	1						GAAGTGCTGGGGGTGCGGCTA	0.701												
RACGAP1	29127	broad.mit.edu	37	12	50410414	50410414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:50410414G>A	uc001rvt.2	-	4	395	c.85C>T	c.(85-87)CAA>TAA	p.Q29*	RACGAP1_uc009zlm.1_Nonsense_Mutation_p.Q29*|RACGAP1_uc001rvs.2_Nonsense_Mutation_p.Q29*|RACGAP1_uc001rvu.2_Nonsense_Mutation_p.Q29*	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	29					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1						AATGACTTACGGACTTCATTT	0.403												
KRT77	374454	broad.mit.edu	37	12	53091567	53091567	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:53091567G>A	uc001saw.2	-	2	686	c.657C>T	c.(655-657)ATC>ATT	p.I219I	KRT77_uc009zmi.2_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	219	Linker 1.|Rod.					keratin filament	structural molecule activity			ovary(1)	1						GCAGGTCACCGATGTAGTTCT	0.562												
MAP3K12	7786	broad.mit.edu	37	12	53874991	53874991	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:53874991C>T	uc001sdm.1	-	15	2653	c.2555G>A	c.(2554-2556)CGG>CAG	p.R852Q	MAP3K12_uc001sdn.1_Missense_Mutation_p.R885Q	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	852					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						AGCTGGGGGCCGCAAGGCATC	0.408												
NFE2	4778	broad.mit.edu	37	12	54686187	54686187	+	Missense_Mutation	SNP	G	G	A	rs150756699	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:54686187G>A	uc009znk.2	-	2	1603	c.1093C>T	c.(1093-1095)CGG>TGG	p.R365W	NFE2_uc001sfq.2_Missense_Mutation_p.R365W|NFE2_uc001sfr.3_Missense_Mutation_p.R365W|NFE2_uc009znl.2_Missense_Mutation_p.R365W	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	365					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						TTGGTCCCCCGGGGCACAAGG	0.562												
NFE2	4778	broad.mit.edu	37	12	54686507	54686507	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:54686507G>A	uc009znk.2	-	2	1283	c.773C>T	c.(772-774)CCG>CTG	p.P258L	NFE2_uc001sfq.2_Missense_Mutation_p.P258L|NFE2_uc001sfr.3_Missense_Mutation_p.P258L|NFE2_uc009znl.2_Missense_Mutation_p.P258L	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	258					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						CTCTGTCAGCGGGTACCTTGC	0.542												
OR6C74	254783	broad.mit.edu	37	12	55641724	55641724	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:55641724A>G	uc010spg.1	+	1	653	c.653A>G	c.(652-654)AAT>AGT	p.N218S		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	218	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TCCTACACAAATATTATCAGG	0.388												
SMARCC2	6601	broad.mit.edu	37	12	56579991	56579991	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:56579991A>G	uc001skb.2	-	3	371	c.265T>C	c.(265-267)TCC>CCC	p.S89P	SMARCC2_uc001skd.2_Missense_Mutation_p.S89P|SMARCC2_uc001ska.2_Missense_Mutation_p.S89P|SMARCC2_uc001skc.2_Missense_Mutation_p.S89P|SMARCC2_uc010sqf.1_5'UTR	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	89					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGCACAAGGAGCCTCCCGCT	0.383												
SLC39A5	283375	broad.mit.edu	37	12	56630975	56630975	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:56630975C>T	uc010sqj.1	+	12	1587	c.1330C>T	c.(1330-1332)CGG>TGG	p.R444W	SLC39A5_uc010sqk.1_Missense_Mutation_p.R444W	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	444	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						GTCCTTTCGGCGGCTGCTGCT	0.652												
ANKRD52	283373	broad.mit.edu	37	12	56638205	56638205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:56638205G>A	uc001skm.3	-	25	2827	c.2737C>T	c.(2737-2739)CGA>TGA	p.R913*		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	913	ANK 26.						protein binding			ovary(2)	2						GCCTTCCCTCGATACAGCAGA	0.517												
PAN2	9924	broad.mit.edu	37	12	56716461	56716461	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:56716461G>A	uc001skx.2	-	18	2960	c.2587C>T	c.(2587-2589)CGC>TGC	p.R863C	PAN2_uc001skw.2_Missense_Mutation_p.R11C|PAN2_uc001skz.2_Missense_Mutation_p.R862C|PAN2_uc001sky.2_Missense_Mutation_p.R859C	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	863					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						CCCCCTGTGCGTGAGTCCAGG	0.592												
MIP	4284	broad.mit.edu	37	12	56847416	56847416	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:56847416G>T	uc001slh.2	-	2	516	c.484C>A	c.(484-486)CTG>ATG	p.L162M		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	162	Helical; (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						CCAACGGCCAGGGCCACGGAG	0.592												
INHBC	3626	broad.mit.edu	37	12	57843559	57843559	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:57843559C>T	uc001snv.1	+	2	940	c.813C>T	c.(811-813)TAC>TAT	p.Y271Y		NM_005538	NP_005529	P55103	INHBC_HUMAN	inhibin beta C chain preproprotein	271					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding				0						CTGAGGGCTACGCCATGAACT	0.542												
INHBC	3626	broad.mit.edu	37	12	57843581	57843581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:57843581C>T	uc001snv.1	+	2	962	c.835C>T	c.(835-837)CAG>TAG	p.Q279*		NM_005538	NP_005529	P55103	INHBC_HUMAN	inhibin beta C chain preproprotein	279					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding				0						CTGCATAGGGCAGTGCCCACT	0.542												
DDIT3	1649	broad.mit.edu	37	12	57910662	57910662	+	Missense_Mutation	SNP	C	C	T	rs139206730		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:57910662C>T	uc001soi.2	-	4	620	c.440G>A	c.(439-441)CGC>CAC	p.R147H	MARS_uc001sof.1_Intron|DDIT3_uc009zps.2_Missense_Mutation_p.R170H|DDIT3_uc009zpt.2_Missense_Mutation_p.R170H	NM_004083	NP_004074	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	147	Leucine-zipper.				cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		FUS/DDIT3(623)|EWSR1/DDIT3(43)	soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1)	671						CCTGGTCAGGCGCTCGATTTC	0.537			T	FUS	liposarcoma							
MBD6	114785	broad.mit.edu	37	12	57919188	57919188	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:57919188G>A	uc001soj.1	+	6	661	c.437G>A	c.(436-438)CGC>CAC	p.R146H	MBD6_uc001sok.1_Missense_Mutation_p.R13H|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	146	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						CCCTCTGCCCGCCCTCCCTGT	0.592												
AGAP2	116986	broad.mit.edu	37	12	58125741	58125741	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:58125741C>T	uc001spq.2	-	8	1804	c.1804G>A	c.(1804-1806)GGG>AGG	p.G602R	AGAP2_uc001spp.2_Missense_Mutation_p.G602R|AGAP2_uc001spr.2_Missense_Mutation_p.G266R	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	602					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						GTGTGGCCCCCGTTACTAGCC	0.562												
AGAP2	116986	broad.mit.edu	37	12	58126199	58126199	+	Missense_Mutation	SNP	G	G	A	rs138992134		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:58126199G>A	uc001spq.2	-	7	1781	c.1781C>T	c.(1780-1782)CCG>CTG	p.P594L	AGAP2_uc001spp.2_Missense_Mutation_p.P594L|AGAP2_uc001spr.2_Missense_Mutation_p.P258L	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	594					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						GCCAGCTACCGGAGTGGATGC	0.612												
SRGAP1	57522	broad.mit.edu	37	12	64491076	64491076	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:64491076C>T	uc010ssp.1	+	15	1790	c.1734C>T	c.(1732-1734)GGC>GGT	p.G578G	SRGAP1_uc001srv.2_Silent_p.G515G	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	578	Rho-GAP.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGTTGCTGGCGTTCTGAAGC	0.358												
RAB3IP	117177	broad.mit.edu	37	12	70195435	70195435	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:70195435T>C	uc001svp.2	+	8	1559	c.1112T>C	c.(1111-1113)ATT>ACT	p.I371T	RAB3IP_uc001svm.2_Missense_Mutation_p.I355T|RAB3IP_uc001svn.2_Missense_Mutation_p.I355T|RAB3IP_uc001svo.2_Intron|RAB3IP_uc001svq.2_Missense_Mutation_p.I371T|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_Intron|RAB3IP_uc001svt.2_Missense_Mutation_p.I149T	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	371					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ACTCTAAGCATTGAACCAGTG	0.393												
NAV3	89795	broad.mit.edu	37	12	78513274	78513274	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:78513274G>A	uc001syp.2	+	15	3471	c.3298G>A	c.(3298-3300)GCT>ACT	p.A1100T	NAV3_uc001syo.2_Missense_Mutation_p.A1100T|NAV3_uc010sub.1_Missense_Mutation_p.A600T|NAV3_uc009zsf.2_Missense_Mutation_p.A108T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1100	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TCCAAAATCTGCTGCCATTGG	0.468										HNSCC(70;0.22)		
SLC6A15	55117	broad.mit.edu	37	12	85255760	85255760	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:85255760G>A	uc001szv.2	-	12	2337	c.1844C>T	c.(1843-1845)CCA>CTA	p.P615L	SLC6A15_uc010sul.1_Missense_Mutation_p.P508L|SLC6A15_uc001szw.1_Intron	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	615					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						TCCCCATGTTGGATAGCTCAG	0.353												
CKAP4	10970	broad.mit.edu	37	12	106633724	106633724	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:106633724A>G	uc001tlk.2	-	2	971	c.887T>C	c.(886-888)ATA>ACA	p.I296T		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	296	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						TGAGGTCTGTATCTCCTTCAC	0.517												
CMKLR1	1240	broad.mit.edu	37	12	108686697	108686697	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:108686697C>T	uc009zuw.2	-	3	234	c.43G>A	c.(43-45)GGT>AGT	p.G15S	CMKLR1_uc001tmw.2_Missense_Mutation_p.G15S|CMKLR1_uc001tmv.2_Missense_Mutation_p.G13S|CMKLR1_uc009zuv.2_Missense_Mutation_p.G15S	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	15	Extracellular (Potential).				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			lung(3)|ovary(1)|pancreas(1)	5						TATTCATCACCGTAACTGATG	0.468												
USP30	84749	broad.mit.edu	37	12	109523509	109523509	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:109523509G>A	uc010sxi.1	+	13	1431	c.1327G>A	c.(1327-1329)GTC>ATC	p.V443I	USP30_uc001tnu.3_Missense_Mutation_p.V412I|USP30_uc001tnw.3_Missense_Mutation_p.V160I	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	443	Cytoplasmic (Potential).				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(1)	1						GGCAGTTGTCGTCCACCATGG	0.483												
KCTD10	83892	broad.mit.edu	37	12	109889523	109889523	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:109889523C>A	uc001toi.1	-	7	907	c.819G>T	c.(817-819)GAG>GAT	p.E273D	KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.E247D|KCTD10_uc001toj.1_Missense_Mutation_p.E282D|KCTD10_uc001tok.1_Missense_Mutation_p.E92D	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	273					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						CGCCTGTGGCCTCCAGGAGCG	0.652												
C12orf24	29902	broad.mit.edu	37	12	110924487	110924487	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:110924487G>A	uc001tqu.3	+	5	1034	c.585G>A	c.(583-585)CAG>CAA	p.Q195Q	C12orf24_uc010sxz.1_Silent_p.Q100Q|C12orf24_uc009zvo.2_Silent_p.Q195Q|C12orf24_uc001tqt.2_RNA|C12orf24_uc001tqv.3_RNA|C12orf24_uc009zvp.2_5'Flank	NM_013300	NP_037432	Q8WUB2	CL024_HUMAN	hypothetical protein LOC29902	195											0						TGCTCATACAGCATTCCCTTT	0.428												
OAS2	4939	broad.mit.edu	37	12	113433246	113433246	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:113433246T>C	uc001tuj.2	+	3	734	c.594T>C	c.(592-594)GAT>GAC	p.D198D	OAS2_uc001tui.1_Silent_p.D198D	NM_016817	NP_058197	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2 isoform 1	198	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(1)	1						AACTAAAGGATTTGATCCTCT	0.353												
DDX54	79039	broad.mit.edu	37	12	113599728	113599728	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:113599728C>T	uc001tup.2	-	18	2298	c.2270G>A	c.(2269-2271)CGC>CAC	p.R757H	DDX54_uc001tuq.3_Missense_Mutation_p.R757H	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	757					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						GCTGATGTAGCGGCCGCTCTC	0.582												
SLC24A6	80024	broad.mit.edu	37	12	113745599	113745599	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:113745599G>A	uc001tvc.2	-	13	1518	c.1308C>T	c.(1306-1308)GCC>GCT	p.A436A	SLC24A6_uc001tuz.2_Silent_p.A141A|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Silent_p.A174A	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	solute carrier family 24 member 6 precursor	436	Helical; Name=9; (Potential).				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			central_nervous_system(1)	1						CCTCTGTGGCGGCCGCGTTGA	0.622												
TBX5	6910	broad.mit.edu	37	12	114793454	114793454	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:114793454G>A	uc001tvo.2	-	9	1935	c.1440C>T	c.(1438-1440)GGC>GGT	p.G480G	TBX5_uc001tvp.2_Silent_p.G480G|TBX5_uc001tvq.2_Silent_p.G430G	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	480					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCTGAAGGGTGCCAGGGGACT	0.622												
TBX3	6926	broad.mit.edu	37	12	115112565	115112565	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:115112565G>A	uc001tvt.1	-	7	2139	c.1175C>T	c.(1174-1176)GCG>GTG	p.A392V	TBX3_uc001tvu.1_Missense_Mutation_p.A372V	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	392					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GATCTTGGCCGCGTCGCAGGC	0.652												
VSIG10	54621	broad.mit.edu	37	12	118520178	118520178	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:118520178T>C	uc001tws.2	-	3	752	c.418A>G	c.(418-420)ACC>GCC	p.T140A		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	140	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane					0						GCGTAGAGGGTGCCGTTGGGG	0.597												
GCN1L1	10985	broad.mit.edu	37	12	120592843	120592843	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:120592843C>T	uc001txo.2	-	31	3645	c.3632G>A	c.(3631-3633)CGG>CAG	p.R1211Q		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1211					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGGCGGCCGCTGCAACAG	0.532												
C12orf43	64897	broad.mit.edu	37	12	121448671	121448671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:121448671G>A	uc001tzh.1	-	3	270	c.247C>T	c.(247-249)CGA>TGA	p.R83*	C12orf43_uc009zxa.1_Nonsense_Mutation_p.R114*|C12orf43_uc010szo.1_Nonsense_Mutation_p.R41*|C12orf43_uc010szp.1_Nonsense_Mutation_p.R83*|C12orf43_uc001tzi.1_Nonsense_Mutation_p.R83*	NM_022895	NP_075046	Q96C57	CL043_HUMAN	hypothetical protein LOC64897	83											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGTGGGCTCGGAATTCAGGG	0.438												
MORN3	283385	broad.mit.edu	37	12	122107285	122107285	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:122107285G>A	uc001uax.2	-	1	276	c.105C>T	c.(103-105)GGC>GGT	p.G35G	MORN3_uc001uay.2_RNA	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	35											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CATAGTAGTCGCCATTCACAG	0.622											OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LRRC43	254050	broad.mit.edu	37	12	122669300	122669300	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:122669300C>T	uc009zxm.2	+	2	410	c.385C>T	c.(385-387)CGG>TGG	p.R129W	LRRC43_uc001ubw.3_5'UTR|LRRC43_uc009zxl.1_RNA	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	129											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCCTACTTCCGGTCCCTGCG	0.562												
CLIP1	6249	broad.mit.edu	37	12	122839720	122839720	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:122839720G>A	uc001ucg.1	-	5	1251	c.1145C>T	c.(1144-1146)ACG>ATG	p.T382M	CLIP1_uc001uch.1_Missense_Mutation_p.T382M|CLIP1_uc001uci.1_Missense_Mutation_p.T382M|CLIP1_uc001ucj.1_Missense_Mutation_p.T83M|CLIP1_uc009zxo.1_5'Flank|CLIP1_uc010tae.1_Intron	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	382	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CACGTGGCTCGTGGCCTTGGC	0.617												
GPR109A	338442	broad.mit.edu	37	12	123187048	123187048	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:123187048C>T	uc001ucx.1	-	1	857	c.783G>A	c.(781-783)TCG>TCA	p.S261S	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	261	Extracellular (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	TCTGCGTGCCCGAAGTGTGCA	0.552												
DNAH10	196385	broad.mit.edu	37	12	124303577	124303577	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:124303577G>A	uc001uft.3	+	21	3532	c.3507G>A	c.(3505-3507)GAG>GAA	p.E1169E		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1169	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAATGTGGAGCATGCTCTTG	0.363												
CCDC92	80212	broad.mit.edu	37	12	124421949	124421949	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:124421949A>G	uc001ufw.1	-	5	799	c.652T>C	c.(652-654)TTT>CTT	p.F218L	CCDC92_uc001ufv.1_Missense_Mutation_p.F201L|CCDC92_uc001ufx.1_Missense_Mutation_p.F218L|CCDC92_uc001ufy.1_Missense_Mutation_p.F201L	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	218											0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		ACCTCTTCAAATTCCGGGTGC	0.597												
NCOR2	9612	broad.mit.edu	37	12	124915184	124915184	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:124915184G>A	uc010tba.1	-	9	1149	c.1032C>T	c.(1030-1032)CGC>CGT	p.R344R	NCOR2_uc010tay.1_Silent_p.R344R|NCOR2_uc010taz.1_Silent_p.R344R|NCOR2_uc010tbb.1_Silent_p.R344R|NCOR2_uc010tbc.1_Silent_p.R344R|NCOR2_uc001ugj.1_Silent_p.R344R|NCOR2_uc001ugk.1_Silent_p.R344R	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	344					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTGCAGCTCGCGCTGCTTGC	0.667												
TMEM132D	121256	broad.mit.edu	37	12	130184715	130184715	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:130184715A>G	uc009zyl.1	-	2	936	c.608T>C	c.(607-609)TTC>TCC	p.F203S		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	203	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGGGGGCTGAACCAGCTGGA	0.692												
EP400	57634	broad.mit.edu	37	12	132479502	132479502	+	Splice_Site	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:132479502G>A	uc001ujn.2	+	11	2862	c.2827_splice	c.e11+1	p.A943_splice	EP400_uc001ujl.2_Splice_Site_p.A942_splice|EP400_uc001ujm.2_Splice_Site_p.A943_splice|EP400_uc001ujk.2_Missense_Mutation_p.G979D	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400						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)		GCCAAGGAAGGTAGGCTGTTG	0.363												
EP400	57634	broad.mit.edu	37	12	132497672	132497672	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:132497672G>A	uc001ujn.2	+	16	3595	c.3560G>A	c.(3559-3561)CGC>CAC	p.R1187H	EP400_uc001ujl.2_Missense_Mutation_p.R1186H|EP400_uc001ujm.2_Missense_Mutation_p.R1187H	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1223	Interactions with RUVBL1 and RUVBL2.|Helicase ATP-binding.				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)		GAGATGCAGCGCGTGAAGGGC	0.557												
EP400	57634	broad.mit.edu	37	12	132504716	132504716	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:132504716G>A	uc001ujn.2	+	21	4435	c.4400G>A	c.(4399-4401)CGA>CAA	p.R1467Q	EP400_uc001ujl.2_Missense_Mutation_p.R1466Q|EP400_uc001ujm.2_Missense_Mutation_p.R1467Q	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1503					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)		GGCCCGCTTCGAGGACGGCCG	0.652												
DDX51	317781	broad.mit.edu	37	12	132628350	132628350	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:132628350T>C	uc001ujy.3	-	2	448	c.409A>G	c.(409-411)ACC>GCC	p.T137A	NOC4L_uc001ujz.1_5'Flank	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	137					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CTGGCGCTGGTGCTGCGCTCC	0.771												
POLE	5426	broad.mit.edu	37	12	133236047	133236047	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:133236047G>A	uc001uks.1	-	26	3153	c.3109C>T	c.(3109-3111)CGT>TGT	p.R1037C	POLE_uc001ukr.1_5'Flank|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R1010C	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1037					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GACATGGAACGGTTCTCAGAG	0.522								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
ZNF268	10795	broad.mit.edu	37	12	133764591	133764591	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:133764591G>A	uc010tcf.1	+	3	497	c.167G>A	c.(166-168)CGC>CAC	p.R56H	ZNF268_uc010tbv.1_5'UTR|ZNF268_uc010tbw.1_5'UTR|ZNF268_uc010tbx.1_Intron|ZNF268_uc010tby.1_Intron|ZNF268_uc010tbz.1_5'UTR|ZNF268_uc010tca.1_Intron|ZNF268_uc010tcb.1_5'UTR|ZNF268_uc010tcc.1_Intron|ZNF268_uc010tcd.1_5'UTR|ZNF268_uc010tce.1_Intron|ZNF268_uc010tcg.1_5'UTR|ZNF268_uc010tch.1_Missense_Mutation_p.R56H	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	56						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CAGAAGAGTCGCAGAATAGAG	0.483												
IFT88	8100	broad.mit.edu	37	13	21173662	21173662	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:21173662G>A	uc001unh.2	+	13	1193	c.797G>A	c.(796-798)CGA>CAA	p.R266Q	IFT88_uc001uni.2_Missense_Mutation_p.R257Q|IFT88_uc001unj.2_Missense_Mutation_p.R256Q|IFT88_uc010tcq.1_Missense_Mutation_p.R237Q|IFT88_uc001unk.2_Missense_Mutation_p.R46Q	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	266	TPR 2.				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAATTCTACCGAATGGCATTA	0.244												
LATS2	26524	broad.mit.edu	37	13	21549231	21549231	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:21549231G>A	uc009zzs.2	-	8	3410	c.3045C>T	c.(3043-3045)AGC>AGT	p.S1015S	LATS2_uc001unr.3_Silent_p.S1015S	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	1015	AGC-kinase C-terminal.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TGCTACCTTCGCTGGCATCGT	0.547												
ATP12A	479	broad.mit.edu	37	13	25284629	25284629	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:25284629C>T	uc001upp.2	+	20	2982	c.2795C>T	c.(2794-2796)ACG>ATG	p.T932M	ATP12A_uc010aaa.2_Missense_Mutation_p.T938M	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	932	Lumenal (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CTAGAATGGACGGGCTACACG	0.368												
CENPJ	55835	broad.mit.edu	37	13	25486095	25486095	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:25486095C>T	uc001upt.3	-	3	810	c.557G>A	c.(556-558)TGC>TAC	p.C186Y	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	186					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)		TGGAAGTGTGCACTGCCCAGA	0.453												
FLT1	2321	broad.mit.edu	37	13	28883002	28883002	+	Missense_Mutation	SNP	G	G	A	rs115595062	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:28883002G>A	uc001usb.3	-	28	3983	c.3698C>T	c.(3697-3699)CCG>CTG	p.P1233L	FLT1_uc010aap.2_Missense_Mutation_p.P238L|FLT1_uc010aaq.2_Missense_Mutation_p.P358L|FLT1_uc001usa.3_Missense_Mutation_p.P451L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1233	Cytoplasmic (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GGTGGCATTCGGTAAAAGTTC	0.408												
MTUS2	23281	broad.mit.edu	37	13	29855976	29855976	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:29855976C>T	uc001usl.3	+	4	2868	c.2810C>T	c.(2809-2811)GCG>GTG	p.A937V		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	927	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TTACTTCCAGCGCCAAAATCC	0.557												
HSPH1	10808	broad.mit.edu	37	13	31718004	31718004	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:31718004A>G	uc001utj.2	-	12	2039	c.1641T>C	c.(1639-1641)GAT>GAC	p.D547D	HSPH1_uc001utk.2_Intron|HSPH1_uc010aaw.2_Silent_p.D506D|HSPH1_uc001utl.2_Silent_p.D549D|HSPH1_uc010tds.1_Silent_p.D471D	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	547					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTTGTTGAGCATCAGTTTGTA	0.453												
B3GALTL	145173	broad.mit.edu	37	13	31860901	31860901	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:31860901C>T	uc010aaz.2	+	12	1119	c.1009C>T	c.(1009-1011)CGT>TGT	p.R337C	B3GALTL_uc001utn.3_RNA	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	337	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		ATTTCTGAATCGTAGCCAGGA	0.308												
FRY	10129	broad.mit.edu	37	13	32811593	32811593	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:32811593C>T	uc001utx.2	+	44	6384	c.5888C>T	c.(5887-5889)CCG>CTG	p.P1963L	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1963					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AACATGAACCCGGGAACCACC	0.493												
SMAD9	4093	broad.mit.edu	37	13	37427646	37427646	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:37427646G>A	uc001uvw.2	-	6	1513	c.1170C>T	c.(1168-1170)TTC>TTT	p.F390F	SMAD9_uc001uvx.2_Silent_p.F353F|SMAD9_uc010tep.1_Silent_p.F183F	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	390	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GGAGCTGAGCGAAGAGCTGGT	0.532												
FOXO1	2308	broad.mit.edu	37	13	41134135	41134135	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:41134135A>G	uc001uxl.3	-	2	1878	c.1493T>C	c.(1492-1494)ATG>ACG	p.M498T	FOXO1_uc010acc.1_Missense_Mutation_p.M313T	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	forkhead box O1	498					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX3/FOXO1(749)|PAX7/FOXO1(197)	soft_tissue(946)|lung(1)|central_nervous_system(1)	948		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		ATTAGGGCCCATCATGACGTT	0.527												
KIAA0564	23078	broad.mit.edu	37	13	42142385	42142385	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:42142385A>G	uc001uyj.2	-	45	5736	c.5666T>C	c.(5665-5667)ATC>ACC	p.I1889T		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1889	VWFA.					extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		AATCTGAGGGATATCCTTGGT	0.468												
ZC3H13	23091	broad.mit.edu	37	13	46559623	46559623	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:46559623C>T	uc010tfw.1	-	9	1535	c.1529G>A	c.(1528-1530)CGT>CAT	p.R510H	ZC3H13_uc001vas.1_Missense_Mutation_p.R510H|ZC3H13_uc001vat.1_Missense_Mutation_p.R510H	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	510	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCGACCTTCACGGTCCCTGTA	0.483												
ZC3H13	23091	broad.mit.edu	37	13	46616331	46616331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:46616331G>A	uc010tfw.1	-	3	313	c.307C>T	c.(307-309)CGA>TGA	p.R103*	ZC3H13_uc001vas.1_Nonsense_Mutation_p.R103*|ZC3H13_uc001vat.1_Nonsense_Mutation_p.R103*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	103							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTGTATTTCGTTTCTGGGGC	0.383												
FNDC3A	22862	broad.mit.edu	37	13	49772303	49772303	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:49772303C>A	uc001vcm.2	+	22	2981	c.2676C>A	c.(2674-2676)ATC>ATA	p.I892I	FNDC3A_uc001vcn.2_Silent_p.I892I|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Silent_p.I836I	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	892	Fibronectin type-III 7.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTTCGGAAATCCTTGCCTACA	0.388												
ARL11	115761	broad.mit.edu	37	13	50204867	50204867	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:50204867G>A	uc001vdf.1	+	2	430	c.284G>A	c.(283-285)CGC>CAC	p.R95H		NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	95					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding				0		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|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;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GATGAAGCCCGCTTACCCGAG	0.612												
DHRS12	79758	broad.mit.edu	37	13	52345977	52345977	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:52345977G>T	uc001vfq.2	-	8	734	c.686C>A	c.(685-687)CCT>CAT	p.P229H	DHRS12_uc001vfr.1_Missense_Mutation_p.P180H|DHRS12_uc001vfs.1_Missense_Mutation_p.P180H			A0PJE2	DHR12_HUMAN	RecName: Full=Dehydrogenase/reductase SDR family member 12;          EC=1.1.-.-;	229							binding|oxidoreductase activity				0		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		GGCCCAGCCAGGATGCATGGA	0.562												
THSD1	55901	broad.mit.edu	37	13	52951934	52951934	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:52951934G>T	uc001vgo.2	-	5	2716	c.2171C>A	c.(2170-2172)CCT>CAT	p.P724H	THSD1_uc001vgp.2_Missense_Mutation_p.P671H|THSD1_uc010tgz.1_Missense_Mutation_p.P345H|THSD1_uc010aea.2_Missense_Mutation_p.P185H	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	724	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)		TTTAGGGAGAGGGTTTAATGG	0.537												
PCDH17	27253	broad.mit.edu	37	13	58299228	58299228	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:58299228G>A	uc001vhq.1	+	4	4172	c.3280G>A	c.(3280-3282)GAT>AAT	p.D1094N	PCDH17_uc010aec.1_Missense_Mutation_p.D1093N|PCDH17_uc001vhr.1_Missense_Mutation_p.D183N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1094	Cytoplasmic (Potential).				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)		CATGGCTTCCGATCAGATGGC	0.542												
SLITRK5	26050	broad.mit.edu	37	13	88330268	88330268	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:88330268G>A	uc001vln.2	+	2	2844	c.2625G>A	c.(2623-2625)CCG>CCA	p.P875P	SLITRK5_uc010tic.1_Silent_p.P634P	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	875	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATAGCCTCCCGGAATATCCCA	0.602												
DZIP1	22873	broad.mit.edu	37	13	96293904	96293904	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:96293904G>A	uc001vmk.2	-	5	1094	c.242C>T	c.(241-243)GCG>GTG	p.A81V	DZIP1_uc001vml.2_Missense_Mutation_p.A81V|DZIP1_uc001vmn.2_Missense_Mutation_p.A70V	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	81					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CACAGCCCCCGCCACCTTGTC	0.657												
RNF113B	140432	broad.mit.edu	37	13	98828846	98828846	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:98828846G>A	uc001vnk.2	-	1	676	c.645C>T	c.(643-645)CAC>CAT	p.H215H	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	215	C3H1-type.						nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CGGAACGGTCGTGGAGGAATT	0.562												
SLC15A1	6564	broad.mit.edu	37	13	99376273	99376273	+	Silent	SNP	C	C	T	rs8187823	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:99376273C>T	uc001vno.2	-	5	335	c.258G>A	c.(256-258)TCG>TCA	p.S86S	SLC15A1_uc001vnp.1_Silent_p.S54S	NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	86	Helical; (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CAATGGAGAGCGACACAATGG	0.473												
LIG4	3981	broad.mit.edu	37	13	108863308	108863308	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:108863308T>C	uc001vqn.2	-	2	582	c.309A>G	c.(307-309)GGA>GGG	p.G103G	LIG4_uc001vqo.2_Silent_p.G103G|LIG4_uc010agg.1_Silent_p.G36G|LIG4_uc010agf.2_Silent_p.G103G|LIG4_uc001vqp.2_Silent_p.G103G	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	103					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding				0	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GGGCATCTTTTCCATCTCTAG	0.373								NHEJ				
MYO16	23026	broad.mit.edu	37	13	109779669	109779669	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:109779669C>A	uc001vqt.1	+	31	3882	c.3756C>A	c.(3754-3756)AGC>AGA	p.S1252R	MYO16_uc010agk.1_Missense_Mutation_p.S1274R|MYO16_uc010tjh.1_Missense_Mutation_p.S764R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1252					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)			TCCACCCCAGCTCCATGTCAG	0.587												
COL4A2	1284	broad.mit.edu	37	13	111132605	111132605	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:111132605G>A	uc001vqx.2	+	31	2915	c.2626G>A	c.(2626-2628)GCT>ACT	p.A876T		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	876	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGACACAGGCGCTCCTGGCCC	0.552												
PARP2	10038	broad.mit.edu	37	14	20822242	20822242	+	Splice_Site	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:20822242A>G	uc001vxc.2	+	8	668	c.640_splice	c.e8-2	p.D214_splice	PARP2_uc001vxd.2_Splice_Site_p.D201_splice|PARP2_uc001vxb.1_Splice_Site_p.D214_splice|PARP2_uc010tle.1_5'Flank	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase family, member 2						protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			ovary(1)|pancreas(1)	2	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TTTTTGCTATAGGATGAAGAG	0.254								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA				
TEP1	7011	broad.mit.edu	37	14	20854777	20854777	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:20854777C>T	uc001vxe.2	-	19	2730	c.2690G>A	c.(2689-2691)CGC>CAC	p.R897H	TEP1_uc010ahk.2_Missense_Mutation_p.R247H|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.R789H	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	897					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCGGATGCTGCGCCATCTGGG	0.587												
JPH4	84502	broad.mit.edu	37	14	24044957	24044957	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:24044957G>A	uc001wkq.2	-	4	2006	c.1088C>T	c.(1087-1089)GCT>GTT	p.A363V	JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Missense_Mutation_p.A363V|JPH4_uc001wks.2_Missense_Mutation_p.A363V	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	363	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCCCTCGACAGCCCTGTCCAC	0.682												
LRRC16B	90668	broad.mit.edu	37	14	24538438	24538438	+	Missense_Mutation	SNP	C	C	T	rs139310553	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:24538438C>T	uc001wlj.2	+	39	4232	c.4075C>T	c.(4075-4077)CGG>TGG	p.R1359W	LRRC16B_uc001wlk.2_Missense_Mutation_p.R412W|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1359										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		TGATAGAAGACGGCCTCCTGA	0.642												
PCK2	5106	broad.mit.edu	37	14	24567463	24567463	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:24567463G>A	uc001wlt.2	+	3	459	c.327G>A	c.(325-327)ACG>ACA	p.T109T	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Silent_p.T121T|PCK2_uc001wls.2_Silent_p.T109T|PCK2_uc010tnw.1_5'UTR|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.1_5'UTR|PCK2_uc001wlu.3_5'UTR	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	109					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		AGAGCAAGACGGTGATTGTAA	0.617												
CIDEB	27141	broad.mit.edu	37	14	24776700	24776700	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:24776700C>T	uc001won.2	-	2	187	c.63G>A	c.(61-63)TCG>TCA	p.S21S	CIDEB_uc001woo.2_Silent_p.S21S|CIDEB_uc001wop.2_Silent_p.S21S|LTB4R2_uc001woq.1_5'Flank|LTB4R2_uc010alo.2_5'Flank|LTB4R2_uc001wor.2_5'Flank	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	21					apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol					0				GBM - Glioblastoma multiforme(265;0.0181)		GTCCAAACTCCGAGCTTATAT	0.552												
KHNYN	23351	broad.mit.edu	37	14	24901776	24901776	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:24901776C>A	uc001wph.3	+	3	1511	c.1309C>A	c.(1309-1311)CTC>ATC	p.L437I	KHNYN_uc010tpc.1_Missense_Mutation_p.L478I|KHNYN_uc010alw.2_Missense_Mutation_p.L437I	NM_015299	NP_056114	O15037	KHNYN_HUMAN	hypothetical protein LOC23351	437										ovary(2)|liver(1)	3						CCAGCCAGACCTCCGCCATAT	0.612											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C14orf183	196913	broad.mit.edu	37	14	50559327	50559327	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:50559327T>C	uc010tqk.1	-	1	35	c.35A>G	c.(34-36)GAT>GGT	p.D12G		NM_001014830	NP_001014830	Q8WXQ3	CN183_HUMAN	hypothetical protein LOC196913	12											0						GGCTCTGACATCCATCTTACT	0.353												
TRIM9	114088	broad.mit.edu	37	14	51561366	51561366	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:51561366C>T	uc001wyx.3	-	1	1057	c.292G>A	c.(292-294)GGC>AGC	p.G98S	TRIM9_uc001wyy.2_Missense_Mutation_p.G98S|TRIM9_uc001wyz.3_Missense_Mutation_p.G98S	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	98					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					ACGCGGACGCCGTTGGGGGAC	0.692												
SOCS4	122809	broad.mit.edu	37	14	55510745	55510745	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:55510745G>A	uc001xbo.2	+	3	1551	c.986G>A	c.(985-987)CGT>CAT	p.R329H	SOCS4_uc001xbp.2_Missense_Mutation_p.R329H	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	329	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					ovary(1)|kidney(1)	2						CGCTATAGTCGTTCTCTTCAT	0.433												
C14orf105	55195	broad.mit.edu	37	14	57938106	57938106	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:57938106G>A	uc001xcy.2	-	6	1001	c.858C>T	c.(856-858)ATC>ATT	p.I286I	C14orf105_uc010trl.1_Silent_p.I326I|C14orf105_uc010trm.1_Silent_p.I197I|C14orf105_uc010trn.1_Silent_p.I197I|C14orf105_uc001xcz.2_Silent_p.I285I	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	hypothetical protein LOC55195	286											0						CGAAAAGTGGGATTCTCTCTG	0.428												
DHRS7	51635	broad.mit.edu	37	14	60622863	60622863	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:60622863C>T	uc001xes.2	-	2	325	c.141G>A	c.(139-141)GAG>GAA	p.E47E	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_5'UTR|DHRS7_uc001xeu.2_Silent_p.E47E	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	47							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TATCAGTCAGCTCCCATTCTA	0.408												
C14orf39	317761	broad.mit.edu	37	14	60938374	60938374	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:60938374C>T	uc001xez.3	-	6	517	c.407G>A	c.(406-408)CGT>CAT	p.R136H	C14orf39_uc010apo.2_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	136										ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATAATATTCACGTGAAAAGGG	0.274												
HIF1A	3091	broad.mit.edu	37	14	62200988	62200988	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:62200988T>C	uc001xfq.2	+	8	1417	c.1013T>C	c.(1012-1014)GTG>GCG	p.V338A	HIF1A_uc001xfr.2_Missense_Mutation_p.V338A|HIF1A_uc001xfs.2_Missense_Mutation_p.V339A	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	hypoxia-inducible factor 1, alpha subunit	338	Interaction with TSGA10 (By similarity).|PAC.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			kidney(3)|lung(1)	4				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		ATTGTATGTGTGAATTACGTT	0.348												
SYNE2	23224	broad.mit.edu	37	14	64443342	64443342	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:64443342C>A	uc001xgm.2	+	12	1420	c.1190C>A	c.(1189-1191)GCT>GAT	p.A397D	SYNE2_uc001xgl.2_Missense_Mutation_p.A397D	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	397	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAAACTGAAGCTTGGCTCCAG	0.388												
MTHFD1	4522	broad.mit.edu	37	14	64921543	64921543	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:64921543G>A	uc001xhb.2	+	26	3055	c.2668G>A	c.(2668-2670)GAC>AAC	p.D890N	MTHFD1_uc010aqf.2_Missense_Mutation_p.D946N|ZBTB25_uc001xhc.2_Intron	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	890	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)	GCCCATTCGCGACATCCGCGC	0.532												
FAM71D	161142	broad.mit.edu	37	14	67669864	67669864	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:67669864C>T	uc001xja.1	+	4	467	c.213C>T	c.(211-213)ACC>ACT	p.T71T	FAM71D_uc010aqn.1_RNA	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	hypothetical protein LOC161142	71										ovary(1)	1		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		ACTGGGTGACCGTAGGCATCT	0.473												
ARG2	384	broad.mit.edu	37	14	68112428	68112428	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:68112428C>T	uc001xjs.2	+	4	547	c.431C>T	c.(430-432)GCC>GTC	p.A144V		NM_001172	NP_001163	P78540	ARGI2_HUMAN	arginase 2 precursor	144					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)	TGGGTTGATGCCCATGCTGAC	0.498												
ADAM20	8748	broad.mit.edu	37	14	70991036	70991036	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:70991036G>A	uc001xme.2	-	2	834	c.589C>T	c.(589-591)CCA>TCA	p.P197S		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	147					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ACACTAATTGGCTTGATTTCA	0.413												
HEATR4	399671	broad.mit.edu	37	14	73989192	73989192	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:73989192C>T	uc010tub.1	-	3	987	c.665G>A	c.(664-666)CGT>CAT	p.R222H	HEATR4_uc010tua.1_Missense_Mutation_p.R175H	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCTTCGAGGACGCTTGCTCTG	0.612												
ACOT1	641371	broad.mit.edu	37	14	74008260	74008260	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:74008260G>A	uc001xol.1	+	2	719	c.521G>A	c.(520-522)CGG>CAG	p.R174Q	HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Missense_Mutation_p.R174Q	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	174					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CTGGAGTATCGGGCTAGTCTG	0.483												
PROX2	283571	broad.mit.edu	37	14	75329378	75329378	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:75329378G>A	uc001xqr.1	-	1	1160	c.1160C>T	c.(1159-1161)CCG>CTG	p.P387L	PROX2_uc001xqq.1_Intron	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	387					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CAATGGTTGCGGCTTAGTAGT	0.557												
GTF2A1	2957	broad.mit.edu	37	14	81658960	81658960	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:81658960G>A	uc001xvf.1	-	7	1268	c.836C>T	c.(835-837)ACA>ATA	p.T279I	GTF2A1_uc010atb.1_Missense_Mutation_p.T229I|GTF2A1_uc001xvg.1_Missense_Mutation_p.T240I	NM_015859	NP_056943	P52655	TF2AA_HUMAN	TFIIA alpha, p55 isoform 1	279					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0287)		ttcAGATGATGTATCCCCAGT	0.284												
KCNK10	54207	broad.mit.edu	37	14	88729604	88729604	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:88729604G>A	uc001xwo.2	-	2	786	c.329C>T	c.(328-330)GCG>GTG	p.A110V	KCNK10_uc001xwm.2_Missense_Mutation_p.A115V|KCNK10_uc001xwn.2_Missense_Mutation_p.A115V	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	110					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						CAGGAATTCCGCCTTCTCCAA	0.582												
PTPN21	11099	broad.mit.edu	37	14	88935293	88935293	+	Silent	SNP	C	C	T	rs142289734		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:88935293C>T	uc001xwv.3	-	18	3694	c.3363G>A	c.(3361-3363)TCG>TCA	p.S1121S	PTPN21_uc010twc.1_Silent_p.S917S	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	1121	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						TCATGATCTCCGACAAAATCA	0.537												
CATSPERB	79820	broad.mit.edu	37	14	92126207	92126207	+	Missense_Mutation	SNP	C	C	T	rs145060222		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:92126207C>T	uc001xzs.1	-	15	1546	c.1406G>A	c.(1405-1407)CGT>CAT	p.R469H	CATSPERB_uc010aub.1_Intron	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	469					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AACCTTTCCACGTTGAGAAAC	0.363												
SLC24A4	123041	broad.mit.edu	37	14	92958534	92958534	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:92958534C>T	uc001yak.2	+	16	1639	c.1615C>T	c.(1615-1617)CGG>TGG	p.R539W	SLC24A4_uc001yai.2_Missense_Mutation_p.R492W|SLC24A4_uc010twm.1_Missense_Mutation_p.R537W|SLC24A4_uc001yaj.2_Missense_Mutation_p.R520W|SLC24A4_uc010auj.2_Missense_Mutation_p.R428W|SLC24A4_uc010twn.1_Missense_Mutation_p.R312W|SLC24A4_uc001yan.2_Missense_Mutation_p.R250W	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	556	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GATCAACAGCCGGGGGCTGGT	0.512												
PPP4R4	57718	broad.mit.edu	37	14	94696964	94696964	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:94696964C>T	uc001ycs.1	+	4	489	c.335C>T	c.(334-336)GCT>GTT	p.A112V		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	112						cytoplasm|protein serine/threonine phosphatase complex	protein binding			skin(3)|upper_aerodigestive_tract(1)	4						CAGTTAACGGCTGCGATGTCA	0.418												
C14orf49	161176	broad.mit.edu	37	14	95884238	95884238	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:95884238G>A	uc001yei.3	-	17	2868	c.2853C>T	c.(2851-2853)CGC>CGT	p.R951R	C14orf49_uc010avi.2_Silent_p.R946R	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	951	KASH.|Perinuclear space (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GGGTGCAGCTGCGGTCCTCTT	0.473												
AK7	122481	broad.mit.edu	37	14	96924479	96924479	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:96924479G>A	uc001yfn.2	+	12	1331	c.1287G>A	c.(1285-1287)GAG>GAA	p.E429E		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	adenylate kinase 7	429	Adenylate kinase.|Potential.|Poly-Glu.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			ovary(1)	1		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		aagaggaagaggaggaggaga	0.413												
BCL11B	64919	broad.mit.edu	37	14	99640505	99640505	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:99640505G>A	uc001yga.2	-	4	2935	c.2668C>T	c.(2668-2670)CAG>TAG	p.Q890*	BCL11B_uc001ygb.2_Nonsense_Mutation_p.Q819*	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	890						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)		CTCTCGGCCTGCTCGATTTTG	0.483			T	TLX3	T-ALL							
BCL11B	64919	broad.mit.edu	37	14	99641398	99641398	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:99641398G>A	uc001yga.2	-	4	2042	c.1775C>T	c.(1774-1776)GCG>GTG	p.A592V	BCL11B_uc001ygb.2_Missense_Mutation_p.A521V	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	592	Gly-rich.					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)		CAGCACCAGCGCCTTCTCGTC	0.562			T	TLX3	T-ALL							
BCL11B	64919	broad.mit.edu	37	14	99641405	99641405	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:99641405C>T	uc001yga.2	-	4	2035	c.1768G>A	c.(1768-1770)GAG>AAG	p.E590K	BCL11B_uc001ygb.2_Missense_Mutation_p.E519K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	590	Gly-rich.					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)		AGCGCCTTCTCGTCAGCCAGC	0.562			T	TLX3	T-ALL							
BCL11B	64919	broad.mit.edu	37	14	99641702	99641702	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:99641702C>T	uc001yga.2	-	4	1738	c.1471G>A	c.(1471-1473)GGG>AGG	p.G491R	BCL11B_uc001ygb.2_Missense_Mutation_p.G420R	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	491						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)		GCCGAGAGCCCGTCGTCGGAG	0.731			T	TLX3	T-ALL							
HHIPL1	84439	broad.mit.edu	37	14	100126626	100126626	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:100126626T>C	uc010avs.2	+	5	1450	c.1385T>C	c.(1384-1386)CTG>CCG	p.L462P	HHIPL1_uc001ygl.1_Missense_Mutation_p.L462P	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	HHIP-like protein 1 isoform a	462					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			skin(2)	2		Melanoma(154;0.128)				GATGACTTGCTGCCGATTTTC	0.622												
EML1	2009	broad.mit.edu	37	14	100364621	100364621	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:100364621C>T	uc001ygs.2	+	8	948	c.879C>T	c.(877-879)GGC>GGT	p.G293G	EML1_uc010avt.1_Silent_p.G280G|EML1_uc010tww.1_Silent_p.G281G|EML1_uc001ygq.2_Silent_p.G312G|EML1_uc001ygr.2_Silent_p.G312G	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	293	WD 1.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AAGTTGCGGGCACATCGAAGG	0.373												
C14orf68	283600	broad.mit.edu	37	14	100795708	100795708	+	Missense_Mutation	SNP	C	C	T	rs149037459		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:100795708C>T	uc001yhc.2	+	6	726	c.653C>T	c.(652-654)CCG>CTG	p.P218L	C14orf68_uc001yhd.2_Missense_Mutation_p.P72L	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	chromosome 14 open reading frame 68	218	Helical; Name=5; (Potential).|Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0		Melanoma(154;0.152)				GCAGATGTCCCGGGCGTGCTG	0.687												
PPP2R5C	5527	broad.mit.edu	37	14	102376002	102376002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:102376002C>T	uc001yko.2	+	11	1368	c.1228C>T	c.(1228-1230)CAA>TAA	p.Q410*	PPP2R5C_uc010txr.1_Nonsense_Mutation_p.Q441*|PPP2R5C_uc001ykk.2_Nonsense_Mutation_p.Q465*|PPP2R5C_uc001ykn.2_Nonsense_Mutation_p.Q410*|PPP2R5C_uc001ykp.2_Nonsense_Mutation_p.Q410*|PPP2R5C_uc001ykq.2_3'UTR	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	410					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						TGACTGTACACAACAGTTCAA	0.383												
DYNC1H1	1778	broad.mit.edu	37	14	102442054	102442054	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:102442054G>A	uc001yks.2	+	2	426	c.262G>A	c.(262-264)GTC>ATC	p.V88I		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	88	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGTAGAGGACGTCGGTGATGA	0.303												
DYNC1H1	1778	broad.mit.edu	37	14	102505980	102505980	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:102505980G>A	uc001yks.2	+	62	11765	c.11601G>A	c.(11599-11601)GCG>GCA	p.A3867A		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3867					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CCCAGGTGGCGTTTAACCGAG	0.577												
CDC42BPB	9578	broad.mit.edu	37	14	103410594	103410594	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:103410594C>T	uc001ymi.1	-	30	4274	c.4042G>A	c.(4042-4044)GTG>ATG	p.V1348M	CDC42BPB_uc001ymj.1_Missense_Mutation_p.V450M	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1348	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGCCGTTTCACGGCCACAAAC	0.557												
CDC42BPB	9578	broad.mit.edu	37	14	103478524	103478524	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:103478524A>G	uc001ymi.1	-	2	409	c.177T>C	c.(175-177)GCT>GCC	p.A59A		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	59					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TAAATGGTTTAGCTACAAGTA	0.308												
CKB	1152	broad.mit.edu	37	14	103986238	103986238	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:103986238C>T	uc001ynf.1	-	8	1189	c.1109G>A	c.(1108-1110)GGC>GAC	p.G370D	CKB_uc001yne.1_Missense_Mutation_p.G192D|CKB_uc010awr.1_Missense_Mutation_p.G301D	NM_001823	NP_001814	P12277	KCRB_HUMAN	brain creatine kinase	370					creatine metabolic process	cytosol	ATP binding|creatine kinase activity				0		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GATGGCCTGGCCCTGCTCCAG	0.632												
KIF26A	26153	broad.mit.edu	37	14	104641909	104641909	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:104641909C>T	uc001yos.3	+	12	2784	c.2784C>T	c.(2782-2784)AGC>AGT	p.S928S		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	928					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGGACAGCAGCGCTTGGCCTG	0.657												
KIAA0284	283638	broad.mit.edu	37	14	105353507	105353507	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:105353507G>A	uc010axb.2	+	12	3155	c.2931G>A	c.(2929-2931)CAG>CAA	p.Q977Q	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.Q907Q|KIAA0284_uc001yps.2_Silent_p.Q883Q|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	977						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CAACCCCCCAGCCTCTGCGGG	0.706												
KIAA0284	283638	broad.mit.edu	37	14	105353894	105353894	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:105353894G>A	uc010axb.2	+	12	3542	c.3318G>A	c.(3316-3318)CCG>CCA	p.P1106P	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.P1036P|KIAA0284_uc001yps.2_Silent_p.P1012P|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1106						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		AGAAGGGGCCGCAGGCCTTGA	0.721												
PLD4	122618	broad.mit.edu	37	14	105397224	105397224	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:105397224G>A	uc001ypu.1	+	7	1004	c.863G>A	c.(862-864)CGT>CAT	p.R288H	PLD4_uc010tyl.1_Missense_Mutation_p.R295H	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	288					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|skin(1)	2		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CACTTCAACCGTTTCCAGCCC	0.577												
GPR132	29933	broad.mit.edu	37	14	105518036	105518036	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:105518036G>A	uc001yqd.2	-	4	1337	c.438C>T	c.(436-438)TAC>TAT	p.Y146Y	GPR132_uc001yqc.2_Translation_Start_Site|GPR132_uc001yqe.2_Silent_p.Y137Y	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	146	Cytoplasmic (Potential).				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCTCCAGCGCGTACACCACGG	0.622												
JAG2	3714	broad.mit.edu	37	14	105609430	105609430	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:105609430G>A	uc001yqg.2	-	26	3723	c.3319C>T	c.(3319-3321)CGC>TGC	p.R1107C	JAG2_uc010axf.2_Translation_Start_Site|JAG2_uc001yqf.2_Missense_Mutation_p.R511C|JAG2_uc001yqh.2_Missense_Mutation_p.R1069C	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	1107	Cytoplasmic (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			lung(3)|breast(2)	5		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CTGCGCTTGCGTGTCCACCAC	0.682												
JAG2	3714	broad.mit.edu	37	14	105615281	105615281	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:105615281G>A	uc001yqg.2	-	14	2303	c.1899C>T	c.(1897-1899)TGC>TGT	p.C633C	JAG2_uc010axf.2_5'Flank|JAG2_uc001yqf.2_Silent_p.C37C|JAG2_uc001yqh.2_Silent_p.C595C	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	633	Extracellular (Potential).|EGF-like 10; atypical.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			lung(3)|breast(2)	5		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CACTCTCATGGCAGTAGGTGC	0.662												
MTA1	9112	broad.mit.edu	37	14	105930455	105930455	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:105930455G>A	uc001yqx.2	+	13	1350	c.1163G>A	c.(1162-1164)GGG>GAG	p.G388E	MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.G149E	NM_004689	NP_004680	Q13330	MTA1_HUMAN	metastasis associated protein	388					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CAGAGCCCTGGGGCTGGCCGG	0.652												
TUBGCP5	114791	broad.mit.edu	37	15	22848297	22848297	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:22848297T>C	uc001yur.3	+	9	1017	c.887T>C	c.(886-888)GTG>GCG	p.V296A	TUBGCP5_uc001yuq.2_Missense_Mutation_p.V296A|TUBGCP5_uc010axz.1_5'Flank	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	296					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AAGGTAACTGTGAGAAACAAT	0.264												
NIPA1	123606	broad.mit.edu	37	15	23049054	23049054	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:23049054G>A	uc001yvc.2	-	5	790	c.765C>T	c.(763-765)TTC>TTT	p.F255F	NIPA1_uc001yvd.2_Silent_p.F85F|NIPA1_uc001yve.2_Silent_p.F180F	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN	non-imprinted in Prader-Willi/Angelman syndrome	255	Cytoplasmic (Potential).				cell death	early endosome|integral to membrane|plasma membrane					0		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCGAGGAGTCGAAGCACTCCA	0.617												
MAGEL2	54551	broad.mit.edu	37	15	23890686	23890686	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:23890686C>T	uc001ywj.3	-	1	490	c.395G>A	c.(394-396)CGC>CAC	p.R132H		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGAGGTCCTGCGCTCTTTAGA	0.577												
ATP10A	57194	broad.mit.edu	37	15	25928619	25928619	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:25928619G>A	uc010ayu.2	-	17	3412	c.3306C>T	c.(3304-3306)CTC>CTT	p.L1102L		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1102	Helical; (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACCAAAACAGGAGGCCCACGA	0.493												
GABRB3	2562	broad.mit.edu	37	15	26866506	26866506	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:26866506C>T	uc001zaz.2	-	4	558	c.416G>A	c.(415-417)CGC>CAC	p.R139H	GABRB3_uc010uae.1_Missense_Mutation_p.R54H|GABRB3_uc001zba.2_Missense_Mutation_p.R139H|GABRB3_uc001zbb.2_Missense_Mutation_p.R195H|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	139	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACGGATCATGCGGTTTTTCAC	0.488												
GABRB3	2562	broad.mit.edu	37	15	26866602	26866602	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:26866602G>A	uc001zaz.2	-	4	462	c.320C>T	c.(319-321)ACG>ATG	p.T107M	GABRB3_uc010uae.1_Missense_Mutation_p.T22M|GABRB3_uc001zba.2_Missense_Mutation_p.T107M|GABRB3_uc001zbb.2_Missense_Mutation_p.T163M|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	107	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATTGTCAAGCGTGAGGTTGAG	0.428												
HERC2	8924	broad.mit.edu	37	15	28359775	28359775	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:28359775C>T	uc001zbj.2	-	90	14002	c.13896G>A	c.(13894-13896)CGG>CGA	p.R4632R	HERC2_uc001zbi.2_Silent_p.R321R	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4632	HECT.				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)		TTATCGCCAGCCGCACGTACT	0.517												
HERC2	8924	broad.mit.edu	37	15	28386775	28386775	+	Nonsense_Mutation	SNP	G	G	A	rs149707599	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:28386775G>A	uc001zbj.2	-	78	11924	c.11818C>T	c.(11818-11820)CGA>TGA	p.R3940*		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3940	WD 5.				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)		TCATCTGGTCGCCTACAATAC	0.478												
TRPM1	4308	broad.mit.edu	37	15	31320618	31320618	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:31320618G>A	uc001zfm.2	-	24	3272	c.3144C>T	c.(3142-3144)GGC>GGT	p.G1048G	TRPM1_uc010azy.2_Silent_p.G955G|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1048	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGAGCCAGGCGCCGGGGATAC	0.502												
TRPM1	4308	broad.mit.edu	37	15	31341635	31341635	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:31341635G>A	uc001zfm.2	-	12	1577	c.1449C>T	c.(1447-1449)AAC>AAT	p.N483N	TRPM1_uc010azy.2_Silent_p.N390N|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	483	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGTTCACTCCGTTTTCAATCA	0.512												
RYR3	6263	broad.mit.edu	37	15	33954431	33954431	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:33954431C>T	uc001zhi.2	+	35	4770	c.4700C>T	c.(4699-4701)GCG>GTG	p.A1567V	RYR3_uc010bar.2_Missense_Mutation_p.A1567V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1567	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)		CTCTACAGCGCGGTGTGCGCC	0.607												
AQR	9716	broad.mit.edu	37	15	35185902	35185902	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:35185902G>A	uc001ziv.2	-	23	2714	c.2533C>T	c.(2533-2535)CCA>TCA	p.P845S		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	845						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CTCTGTTCTGGGAAGTTGTGG	0.333												
AQR	9716	broad.mit.edu	37	15	35202356	35202356	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:35202356T>C	uc001ziv.2	-	17	1824	c.1643A>G	c.(1642-1644)CAC>CGC	p.H548R		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	548						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ATCTTTGATGTGATCTCTGAC	0.388												
DISP2	85455	broad.mit.edu	37	15	40659625	40659625	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:40659625C>T	uc001zlk.1	+	8	1401	c.1312C>T	c.(1312-1314)CTC>TTC	p.L438F		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	438					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GTACAGCCTGCTCTTCCTGCC	0.582												
C15orf23	90417	broad.mit.edu	37	15	40675100	40675100	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:40675100T>A	uc001zll.2	+	1	179	c.64T>A	c.(64-66)TGC>AGC	p.C22S	C15orf23_uc010ucp.1_Missense_Mutation_p.C22S|C15orf23_uc001zlo.2_Missense_Mutation_p.C22S|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	TRAF4 associated factor 1 isoform a	22						nucleus	protein binding			ovary(1)|skin(1)	2		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GTCTACAGAGTGCGATTCCCA	0.577												
BAHD1	22893	broad.mit.edu	37	15	40756212	40756212	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:40756212C>T	uc001zlu.2	+	4	2039	c.1968C>T	c.(1966-1968)CCC>CCT	p.P656P	BAHD1_uc001zlt.2_Silent_p.P655P|BAHD1_uc010bbp.1_Silent_p.P655P|BAHD1_uc001zlv.2_Silent_p.P656P	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	656	BAH.				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)		GGGAGAACCCCGAGTCAGGTA	0.607												
DNAJC17	55192	broad.mit.edu	37	15	41068766	41068766	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:41068766G>A	uc001zms.1	-	5	366	c.355C>T	c.(355-357)CGG>TGG	p.R119W	DNAJC17_uc010bbz.1_RNA|DNAJC17_uc010bca.1_RNA|DNAJC17_uc010bcb.1_RNA	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	119					protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTGGTGCTCCGGCTCTCCTCT	0.632												
CHAC1	79094	broad.mit.edu	37	15	41247907	41247907	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:41247907G>A	uc001znh.2	+	3	750	c.730G>A	c.(730-732)GTG>ATG	p.V244M	CHAC1_uc010uct.1_Missense_Mutation_p.V199M	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	244					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding				0		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GGCAGCCATCGTGGACGCTGT	0.657												
INO80	54617	broad.mit.edu	37	15	41388423	41388423	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:41388423A>C	uc001zni.2	-	2	299	c.86T>G	c.(85-87)CTC>CGC	p.L29R	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	29	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						GTCCAACCGGAGGGCCCTCTC	0.458												
MGA	23269	broad.mit.edu	37	15	42005475	42005475	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:42005475T>C	uc001zog.1	+	9	3302	c.3211T>C	c.(3211-3213)TGC>CGC	p.C1071R	MGA_uc010ucy.1_Missense_Mutation_p.C1071R|MGA_uc010ucz.1_Missense_Mutation_p.C1071R	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 2	1071						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACCTGCTCACTGCCGCCGACC	0.468												
MAPKBP1	23005	broad.mit.edu	37	15	42067510	42067510	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:42067510A>G	uc001zok.3	+	2	323	c.37A>G	c.(37-39)AAG>GAG	p.K13E	MAPKBP1_uc001zoj.3_Missense_Mutation_p.K13E|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.K13E|MAPKBP1_uc010udb.1_5'UTR|MAPKBP1_uc010bck.2_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	13										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAGCCGGATCAAGAATCTGTT	0.552												
SPTBN5	51332	broad.mit.edu	37	15	42178461	42178461	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:42178461G>A	uc001zos.2	-	7	1220	c.887C>T	c.(886-888)GCG>GTG	p.A296V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	331	Spectrin 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AAAATCCCGCGCCTCCAGCTG	0.622												
SLTM	79811	broad.mit.edu	37	15	59181732	59181732	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:59181732G>A	uc002afp.2	-	16	2189	c.2101C>T	c.(2101-2103)CGG>TGG	p.R701W	SLTM_uc002afn.2_Missense_Mutation_p.R243W|SLTM_uc002afo.2_Missense_Mutation_p.R683W|SLTM_uc002afq.2_Missense_Mutation_p.R270W|SLTM_uc010bgd.2_Missense_Mutation_p.R270W	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	701	Arg/Glu-rich.|Potential.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						CGAGCAATCCGTTCAGCTTCC	0.403												
TLN2	83660	broad.mit.edu	37	15	63097974	63097974	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:63097974C>T	uc002alb.3	+	48	6653	c.6653C>T	c.(6652-6654)ACG>ATG	p.T2218M	TLN2_uc002alc.3_Missense_Mutation_p.T611M	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	2218					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						GATATGTTGACGGCTTGCAAG	0.527												
SNX22	79856	broad.mit.edu	37	15	64446653	64446653	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:64446653T>C	uc002anc.1	+	7	587	c.528T>C	c.(526-528)GAT>GAC	p.D176D	SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	sorting nexin 22	176					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0						TCAGCCCAGATAAAGCCCAGC	0.577											OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CSNK1G1	53944	broad.mit.edu	37	15	64508804	64508804	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:64508804C>T	uc002anf.2	-	5	881	c.401G>A	c.(400-402)CGA>CAA	p.R134Q	CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.R134Q|CSNK1G1_uc002anh.1_Missense_Mutation_p.R134Q|CSNK1G1_uc002anj.2_Missense_Mutation_p.R107Q	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	134	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0						AGTAAATGTTCGGTCACAGAG	0.468												
RASL12	51285	broad.mit.edu	37	15	65347485	65347485	+	Missense_Mutation	SNP	G	G	A	rs148588039	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:65347485G>A	uc002aoi.1	-	5	768	c.553C>T	c.(553-555)CGG>TGG	p.R185W	RASL12_uc002aoj.1_Missense_Mutation_p.R166W|RASL12_uc010uir.1_Missense_Mutation_p.R174W	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	RAS-like, family 12 protein	185					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			skin(1)	1						TCCAGCTCCCGCCGTGCCTCT	0.662												
CLPX	10845	broad.mit.edu	37	15	65445919	65445919	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:65445919C>T	uc002aom.2	-	12	1742	c.1670G>A	c.(1669-1671)CGA>CAA	p.R557Q	CLPX_uc010uiu.1_RNA	NM_006660	NP_006651	O76031	CLPX_HUMAN	ClpX caseinolytic protease X homolog precursor	557					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding				0						ACCTGTTTTTCGTTCTAGTGC	0.333												
PARP16	54956	broad.mit.edu	37	15	65559077	65559077	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:65559077A>G	uc002aoo.2	-	3	596	c.342T>C	c.(340-342)GCT>GCC	p.A114A	PARP16_uc002aop.2_Intron|PARP16_uc002aoq.2_Silent_p.A114A	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	114	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						GCGTGTGAGGAGCCCCAGTCA	0.438												
SLC24A1	9187	broad.mit.edu	37	15	65917564	65917564	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:65917564G>A	uc010ujf.1	+	2	1433	c.1146G>A	c.(1144-1146)ACG>ACA	p.T382T	SLC24A1_uc010ujd.1_Silent_p.T382T|SLC24A1_uc010uje.1_Silent_p.T382T|SLC24A1_uc010ujg.1_Silent_p.T382T|SLC24A1_uc010ujh.1_Silent_p.T382T	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	382	Extracellular (Potential).				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity				0						CAACCCCTACGGTCAGGGCAA	0.582												
C15orf39	56905	broad.mit.edu	37	15	75499165	75499165	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:75499165C>A	uc002azp.3	+	2	1096	c.776C>A	c.(775-777)CCA>CAA	p.P259Q	C15orf39_uc002azq.3_Missense_Mutation_p.P259Q|C15orf39_uc002azr.3_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	259											0						CCCCTGGGGCCACCCTGTCAG	0.532												
NEIL1	79661	broad.mit.edu	37	15	75646105	75646105	+	Silent	SNP	C	C	T	rs111431272		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:75646105C>T	uc002bad.2	+	6	1250	c.744C>T	c.(742-744)AGC>AGT	p.S248S	NEIL1_uc002bae.2_Silent_p.S334S|MIR631_hsa-mir-631|MI0003645_5'Flank	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	248					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			ovary(1)	1						GGTCAGAGAGCGGGGAGGAGG	0.632								BER_DNA_glycosylases				
RASGRF1	5923	broad.mit.edu	37	15	79320163	79320163	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:79320163C>T	uc002beq.2	-	9	1676	c.1301G>A	c.(1300-1302)CGG>CAG	p.R434Q	RASGRF1_uc002bep.2_Missense_Mutation_p.R434Q|RASGRF1_uc010blm.1_Missense_Mutation_p.R356Q|RASGRF1_uc002ber.3_Missense_Mutation_p.R434Q	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	434					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						CAGGTTTTTCCGGATGTTCTC	0.547												
BNC1	646	broad.mit.edu	37	15	83932512	83932512	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:83932512C>T	uc002bjt.1	-	4	1579	c.1491G>A	c.(1489-1491)ACG>ACA	p.T497T	BNC1_uc010uos.1_Silent_p.T485T	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	497					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CCTCGGCAGGCGTGGCTGGAC	0.522												
ZNF710	374655	broad.mit.edu	37	15	90611773	90611773	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:90611773C>T	uc002bov.1	+	2	1527	c.1404C>T	c.(1402-1404)TGC>TGT	p.C468C		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	468	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCACTGAATGCGGCATGGAGT	0.597												
ZNF774	342132	broad.mit.edu	37	15	90903589	90903589	+	Missense_Mutation	SNP	G	G	A	rs141233852	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:90903589G>A	uc002bpk.3	+	4	712	c.526G>A	c.(526-528)GAG>AAG	p.E176K		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CCACACTGGCGAGAGGCCCTA	0.498												
SLCO3A1	28232	broad.mit.edu	37	15	92459421	92459421	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:92459421G>A	uc002bqx.2	+	2	580	c.379G>A	c.(379-381)GAG>AAG	p.E127K	SLCO3A1_uc002bqy.2_Missense_Mutation_p.E127K|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.E69K	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	127	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GGCGCTGCCCGAGTTCCTGAC	0.736												
ASB7	140460	broad.mit.edu	37	15	101170038	101170038	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:101170038G>T	uc002bwk.2	+	5	1377	c.608G>T	c.(607-609)GGG>GTG	p.G203V	ASB7_uc002bwj.2_Missense_Mutation_p.G203V	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	203	ANK 6.				intracellular signal transduction					skin(1)	1	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			CTTCAGAGAGGGGCAGACACA	0.463												
PIGQ	9091	broad.mit.edu	37	16	624377	624377	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:624377C>T	uc002cho.2	+	2	405	c.303C>T	c.(301-303)GGC>GGT	p.G101G	PIGQ_uc010bqw.2_Silent_p.G101G|PIGQ_uc002chm.2_Silent_p.G101G|PIGQ_uc002chn.2_Silent_p.G101G|PIGQ_uc010uui.1_Silent_p.G115G	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	101					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)	1		Hepatocellular(780;0.00335)				GGGAGAGAGGCGGCACGTTCT	0.697												
PIGQ	9091	broad.mit.edu	37	16	628448	628448	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:628448C>T	uc002cho.2	+	5	1114	c.1012C>T	c.(1012-1014)CGT>TGT	p.R338C	PIGQ_uc010bqw.2_Missense_Mutation_p.R338C|PIGQ_uc002chn.2_Missense_Mutation_p.R338C|PIGQ_uc010uui.1_Missense_Mutation_p.R352C	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	338	Leu-rich.				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)	1		Hepatocellular(780;0.00335)				CAAGATGAACCGTGCACTGGA	0.677												
WFIKKN1	117166	broad.mit.edu	37	16	682937	682937	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:682937G>A	uc002cht.1	+	2	769	c.527G>A	c.(526-528)CGC>CAC	p.R176H	WFIKKN1_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	176						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				ACCACTGCCCGCCCCACACCT	0.751												
PRR25	388199	broad.mit.edu	37	16	857486	857486	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:857486G>A	uc010uut.1	+	2	483	c.483G>A	c.(481-483)CCG>CCA	p.P161P		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	proline rich 25	161	Pro-rich.									large_intestine(1)	1						CCTCGCCGCCGCCTCCTGCCG	0.791												
CACNA1H	8912	broad.mit.edu	37	16	1246017	1246017	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:1246017G>A	uc002cks.2	+	5	885	c.637G>A	c.(637-639)GTG>ATG	p.V213M	CACNA1H_uc002ckt.2_Missense_Mutation_p.V213M	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	213	Cytoplasmic (Potential).|I.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CATCAACCGCGTGCCTAGTAA	0.652												
CACNA1H	8912	broad.mit.edu	37	16	1270477	1270477	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:1270477G>A	uc002cks.2	+	35	6793	c.6545G>A	c.(6544-6546)CGC>CAC	p.R2182H	CACNA1H_uc002ckt.2_Missense_Mutation_p.R2176H|CACNA1H_uc002cku.2_Missense_Mutation_p.R877H|CACNA1H_uc010brj.2_Missense_Mutation_p.R893H|CACNA1H_uc002ckv.2_Missense_Mutation_p.R871H	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2182	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTGGGTGCGCGCAGAAAGAAG	0.741												
PTX4	390667	broad.mit.edu	37	16	1537733	1537733	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:1537733A>C	uc010uvf.1	-	2	365	c.365T>G	c.(364-366)CTC>CGC	p.L122R		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	127						extracellular region	metal ion binding				0						GCCCAGGGTGAGGTCCAAGGC	0.706												
CRAMP1L	57585	broad.mit.edu	37	16	1719026	1719026	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:1719026C>T	uc010uvh.1	+	18	3359	c.3359C>T	c.(3358-3360)GCA>GTA	p.A1120V	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	1120	Ser-rich.					nucleus	DNA binding				0						CTTTCTCCAGCAAAACTGAAT	0.592												
ZNF598	90850	broad.mit.edu	37	16	2048830	2048830	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:2048830C>T	uc002cof.1	-	13	2249	c.2234G>A	c.(2233-2235)CGG>CAG	p.R745Q	ZNF598_uc002coe.1_Missense_Mutation_p.R109Q	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	745						intracellular	zinc ion binding			lung(1)|breast(1)	2						TAGGTACGCCCGTGGGGCAGG	0.627												
TRAF7	84231	broad.mit.edu	37	16	2226308	2226308	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:2226308C>T	uc002cow.2	+	20	2020	c.1921C>T	c.(1921-1923)CGT>TGT	p.R641C		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	641	WD 7.				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GACCCTGCTGCGTCACCAGGG	0.657												
DCI	1632	broad.mit.edu	37	16	2290126	2290126	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:2290126T>C	uc002cpr.2	-	7	799	c.763A>G	c.(763-765)AAG>GAG	p.K255E	DCI_uc002cps.2_Missense_Mutation_p.K238E	NM_001919	NP_001910	P42126	ECI1_HUMAN	dodecenoyl-Coenzyme A delta isomerase precursor	255					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity				0						ATCATGGCCTTGGTCAGCTGT	0.522												
C16orf59	80178	broad.mit.edu	37	16	2514178	2514178	+	Missense_Mutation	SNP	C	C	T	rs11639943		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:2514178C>T	uc002cqh.2	+	9	1134	c.1103C>T	c.(1102-1104)GCG>GTG	p.A368V	C16orf59_uc002cqf.1_Missense_Mutation_p.A368V|C16orf59_uc002cqg.1_Missense_Mutation_p.A201V|C16orf59_uc002cqi.2_Missense_Mutation_p.A201V|C16orf59_uc010uwb.1_Missense_Mutation_p.R163W	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	hypothetical protein LOC80178	368											0		Ovarian(90;0.17)				CAGACCCTGGCGGCCCTCAAG	0.657												
AMDHD2	51005	broad.mit.edu	37	16	2580384	2580384	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:2580384C>T	uc010uwc.1	+	11	1506	c.1409C>T	c.(1408-1410)ACA>ATA	p.T470I	AMDHD2_uc010uwd.1_Missense_Mutation_p.T234I|CEMP1_uc002cqr.2_Missense_Mutation_p.V231M	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 2	Error:Variant_position_missing_in_Q9Y303_after_alignment					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						CCCTGGCACACACCCATGTGG	0.632												
SRRM2	23524	broad.mit.edu	37	16	2811955	2811955	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:2811955A>G	uc002crk.2	+	11	1975	c.1426A>G	c.(1426-1428)ACC>GCC	p.T476A	SRRM2_uc002crj.1_Missense_Mutation_p.T380A|SRRM2_uc002crl.1_Missense_Mutation_p.T476A|SRRM2_uc010bsu.1_Missense_Mutation_p.T380A	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	476	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						ACATTCTCATACCCCCTCCCG	0.567												
PRSS22	64063	broad.mit.edu	37	16	2905667	2905667	+	Missense_Mutation	SNP	C	C	T	rs146443197		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:2905667C>T	uc002cry.1	-	4	533	c.467G>A	c.(466-468)CGG>CAG	p.R156Q	PRSS22_uc002crz.1_Intron	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	protease, serine, 22 precursor	156	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1						GGGCAGGACCCGCTCTGAGAA	0.607												
KREMEN2	79412	broad.mit.edu	37	16	3016647	3016647	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:3016647C>T	uc002csg.2	+	5	796	c.491C>T	c.(490-492)GCG>GTG	p.A164V	KREMEN2_uc010bsw.1_Missense_Mutation_p.A164V|KREMEN2_uc002csh.2_Missense_Mutation_p.A164V|KREMEN2_uc010uwl.1_Intron|KREMEN2_uc010bsx.2_Intron|KREMEN2_uc002csi.2_Missense_Mutation_p.A164V|PAQR4_uc002csj.3_5'Flank|PAQR4_uc002csk.3_5'Flank|PAQR4_uc002csl.3_5'Flank	NM_172229	NP_757384	Q8NCW0	KREM2_HUMAN	kringle-containing transmembrane protein 2	164	Extracellular (Potential).|WSC.			Missing (in Ref. 2; BAC11365).	Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)	2						TCCCAGCTGGCGGGCGTGGAG	0.453												
CLUAP1	23059	broad.mit.edu	37	16	3576427	3576427	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:3576427C>A	uc002cvk.1	+	9	976	c.871C>A	c.(871-873)CTC>ATC	p.L291I	CLUAP1_uc002cvj.1_Missense_Mutation_p.L291I|CLUAP1_uc002cvl.1_Missense_Mutation_p.L291I|CLUAP1_uc002cvm.1_Missense_Mutation_p.L125I	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1 isoform 1	291	Potential.					nucleus	protein binding			ovary(1)|breast(1)|pancreas(1)	3						TAAAAACACTCTCTGCCTGAT	0.478												
NLRC3	197358	broad.mit.edu	37	16	3614281	3614281	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:3614281G>A	uc010btn.2	-	5	1068	c.657C>T	c.(655-657)GAC>GAT	p.D219D		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	219	NACHT.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						CATCCAAGCCGTCCAGGATCA	0.637												
DNASE1	1773	broad.mit.edu	37	16	3706754	3706754	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:3706754G>T	uc002cvr.2	+	5	2543	c.436G>T	c.(436-438)GAG>TAG	p.E146*		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	146					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity				0		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	CCGGTTCACAGGTGGGTGCTG	0.627								Direct_reversal_of_damage				
CREBBP	1387	broad.mit.edu	37	16	3778018	3778018	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:3778018G>A	uc002cvv.2	-	31	7234	c.7030C>T	c.(7030-7032)CGG>TGG	p.R2344W	CREBBP_uc002cvw.2_Missense_Mutation_p.R2306W	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2344					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)		GCTGGAGACCGCACCTGGTTA	0.652			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	4165251	4165251	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:4165251G>A	uc002cvx.2	-	2	732	c.193C>T	c.(193-195)CGG>TGG	p.R65W		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	65	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|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						CCCACTCGCCGGGGGACGCCC	0.667												
UBN1	29855	broad.mit.edu	37	16	4902935	4902935	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:4902935G>T	uc002cyb.2	+	2	356	c.17G>T	c.(16-18)AGG>ATG	p.R6M	UBN1_uc010uxw.1_Missense_Mutation_p.R6M|UBN1_uc002cyc.2_Missense_Mutation_p.R6M	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	6	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						GAGCCCCACAGGGTCCAGTTC	0.527												
UBN1	29855	broad.mit.edu	37	16	4920893	4920893	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:4920893G>A	uc002cyb.2	+	11	1818	c.1479G>A	c.(1477-1479)TCG>TCA	p.S493S	UBN1_uc010uxw.1_Silent_p.S493S|UBN1_uc002cyc.2_Silent_p.S493S	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	493	Potential.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						GGATTTGTTCGGATGAGGAAG	0.532												
PPL	5493	broad.mit.edu	37	16	4944618	4944618	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:4944618C>T	uc002cyd.1	-	12	1334	c.1244G>A	c.(1243-1245)GGC>GAC	p.G415D		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	415	Spectrin 2.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						CGAGATCAGGCCCTGGCGGGG	0.677												
USP7	7874	broad.mit.edu	37	16	8988640	8988640	+	Splice_Site	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:8988640C>T	uc002czl.2	-	29	3310	c.3111_splice	c.e29+1	p.K1037_splice	USP7_uc002czj.2_Splice_Site|USP7_uc010uyj.1_Splice_Site_p.K938_splice|USP7_uc002czk.2_Splice_Site_p.K1021_splice	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7						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						CAGCTGCACACCTTCTCAAAC	0.552												
CIITA	4261	broad.mit.edu	37	16	11001726	11001726	+	Missense_Mutation	SNP	C	C	A	rs34082539		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:11001726C>A	uc002dai.3	+	11	2510	c.2377C>A	c.(2377-2379)CTG>ATG	p.L793M	CIITA_uc002daj.3_Missense_Mutation_p.L794M|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.L793M|CIITA_uc002dah.2_Missense_Mutation_p.L745M|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	793					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						TGCGAGGTACCTGAAGCGGCT	0.692			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|							
RUNDC2A	84127	broad.mit.edu	37	16	12121270	12121270	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:12121270G>A	uc002dbw.1	+	4	278	c.216G>A	c.(214-216)CAG>CAA	p.Q72Q		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	72	RUN.									ovary(1)	1						CGATCAAGCAGGCAGCGGGCT	0.527			T	CIITA	PMBL|Hodgkin Lymphona|							
PDXDC1	23042	broad.mit.edu	37	16	15129899	15129899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:15129899C>T	uc002dda.3	+	23	2358	c.2134C>T	c.(2134-2136)CGA>TGA	p.R712*	PDXDC1_uc010uzl.1_Nonsense_Mutation_p.R697*|PDXDC1_uc010uzm.1_Nonsense_Mutation_p.R621*|PDXDC1_uc002ddb.3_Nonsense_Mutation_p.R685*|PDXDC1_uc010uzn.1_Nonsense_Mutation_p.R684*|PDXDC1_uc002ddc.2_Intron	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	712					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	AAGGTCCCTGCGAGGTTCAGA	0.522												
MYH11	4629	broad.mit.edu	37	16	15812206	15812206	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:15812206G>A	uc002ddy.2	-	37	5368	c.5261C>T	c.(5260-5262)GCC>GTC	p.A1754V	MYH11_uc002ddv.2_Missense_Mutation_p.A1761V|MYH11_uc002ddw.2_Missense_Mutation_p.A1754V|MYH11_uc002ddx.2_Missense_Mutation_p.A1761V|MYH11_uc010bvg.2_Missense_Mutation_p.A1586V|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.A460V	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1754	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						GTCGCTCATGGCCTCCATGTT	0.577			T	CBFB	AML							
CP110	9738	broad.mit.edu	37	16	19548310	19548310	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:19548310T>C	uc002dgl.3	+	4	1566	c.1319T>C	c.(1318-1320)GTT>GCT	p.V440A	CP110_uc002dgk.3_Missense_Mutation_p.V440A			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	440	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						TCAAGCAAGGTTTATGTGGGC	0.338												
ACSM5	54988	broad.mit.edu	37	16	20448594	20448594	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:20448594C>T	uc002dhe.2	+	12	1588	c.1441C>T	c.(1441-1443)CGG>TGG	p.R481W		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	481					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						TTCCAGCTACCGGATCGGGCC	0.547												
TNRC6A	27327	broad.mit.edu	37	16	24835045	24835045	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:24835045G>A	uc002dmm.2	+	25	5920	c.5806G>A	c.(5806-5808)GAC>AAC	p.D1936N	TNRC6A_uc010bxs.2_Missense_Mutation_p.D1683N|TNRC6A_uc002dmn.2_Missense_Mutation_p.D1634N|TNRC6A_uc002dmo.2_Missense_Mutation_p.D1575N|TNRC6A_uc002dmr.2_Missense_Mutation_p.D135N	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1936	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		AAGCAGCAGCGACCCCCGAGG	0.567												
XPO6	23214	broad.mit.edu	37	16	28145181	28145181	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:28145181G>A	uc002dpa.1	-	11	2018	c.1517C>T	c.(1516-1518)ACG>ATG	p.T506M	XPO6_uc002dpb.1_Missense_Mutation_p.T492M|XPO6_uc010vcp.1_Missense_Mutation_p.T506M	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	506					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						GAAGGCGTGCGTGGGCAGGAG	0.582												
SH2B1	25970	broad.mit.edu	37	16	28877882	28877882	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:28877882G>A	uc002dri.2	+	4	906	c.467G>A	c.(466-468)CGT>CAT	p.R156H	uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.R156H|SH2B1_uc002drk.2_Missense_Mutation_p.R156H|SH2B1_uc002drl.2_Missense_Mutation_p.R156H|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.R156H|SH2B1_uc002drm.2_Missense_Mutation_p.R156H	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	156	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						TTTTCCCTGCGTTCAGTGGGT	0.637												
C16orf53	79447	broad.mit.edu	37	16	29828529	29828529	+	Splice_Site	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:29828529A>G	uc002dug.3	+	2	802	c.483_splice	c.e2-2	p.K161_splice	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	PTIP-associated 1 protein												0						CACCTGTCCCAGACCACACAT	0.587											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KCTD13	253980	broad.mit.edu	37	16	29922431	29922431	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:29922431G>A	uc002duv.2	-	5	812	c.621C>T	c.(619-621)CAC>CAT	p.H207H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Intron|ASPHD1_uc010bzi.2_Intron|KCTD13_uc010vee.1_RNA	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	potassium channel tetramerisation domain	207					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity				0						GTAGCCGCCCGTGGAAGCGCA	0.602												
ZNF768	79724	broad.mit.edu	37	16	30536461	30536461	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:30536461G>A	uc002dyk.3	-	2	1176	c.1000C>T	c.(1000-1002)CGC>TGC	p.R334C	ZNF768_uc010vex.1_Missense_Mutation_p.R303C|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.R303C	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	334	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						CGCTGGTGGCGAAGCAGGTAA	0.627												
SRCAP	10847	broad.mit.edu	37	16	30750563	30750563	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:30750563C>T	uc002dze.1	+	34	9587	c.9202C>T	c.(9202-9204)CGC>TGC	p.R3068C	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2863C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3068					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CCGCCTGGCCCGCCTTCGGCT	0.622												
ZNF629	23361	broad.mit.edu	37	16	30794300	30794300	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:30794300C>T	uc002dzs.1	-	3	1557	c.1349G>A	c.(1348-1350)CGC>CAC	p.R450H		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	450	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GGTGTGGATGCGCTGGTGGCG	0.637												
SETD1A	9739	broad.mit.edu	37	16	30977324	30977324	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:30977324G>A	uc002ead.1	+	8	2808	c.2122G>A	c.(2122-2124)GGT>AGT	p.G708S		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						TGGCCCCCCCGGTGGGGCCTT	0.642												
ZNF668	79759	broad.mit.edu	37	16	31073511	31073511	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:31073511G>A	uc010caf.2	-	3	1095	c.738C>T	c.(736-738)CAC>CAT	p.H246H	ZNF668_uc002eao.2_Silent_p.H246H	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	246	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4						TCTGTGCCGCGTGGATGCGCT	0.692												
BCKDK	10295	broad.mit.edu	37	16	31120841	31120841	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:31120841C>T	uc002eaw.3	+	3	521	c.205C>T	c.(205-207)CGC>TGC	p.R69C	BCKDK_uc002eav.3_Missense_Mutation_p.R69C|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.R69C	NM_005881	NP_005872	O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	69					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			stomach(1)|breast(1)	2						GCCCTCAGTCCGCCTAACGCC	0.627												
ITGAM	3684	broad.mit.edu	37	16	31336583	31336583	+	Splice_Site	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:31336583G>A	uc002ebq.2	+	20	2462	c.2364_splice	c.e20-1	p.S788_splice	ITGAM_uc002ebr.2_Splice_Site_p.S789_splice|ITGAM_uc010can.2_Splice_Site_p.S194_splice|ITGAM_uc002ebs.1_Splice_Site_p.S194_splice|ITGAM_uc010vfj.1_RNA	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor						blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						TCTTCCCACAGCCTGGACTGC	0.587												
SALL1	6299	broad.mit.edu	37	16	51171062	51171062	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:51171062G>A	uc010vgs.1	-	3	3967	c.3936C>T	c.(3934-3936)ACC>ACT	p.T1312T	SALL1_uc010vgr.1_Silent_p.T1215T|SALL1_uc010cbv.2_Silent_p.T164T	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	1312					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCACGAAGCGGGTGAAGCGGA	0.567												
MMP2	4313	broad.mit.edu	37	16	55517983	55517983	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:55517983C>T	uc002ehz.3	+	3	747	c.436C>T	c.(436-438)CGT>TGT	p.R146C	MMP2_uc010vhd.1_Missense_Mutation_p.R70C|MMP2_uc010ccc.2_Missense_Mutation_p.R96C	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	146	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGCCTTTGCTCGTGCCTTCCA	0.473												
SLC6A2	6530	broad.mit.edu	37	16	55690841	55690841	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:55690841G>A	uc002eif.2	+	2	346	c.235G>A	c.(235-237)GTG>ATG	p.V79M	SLC6A2_uc010ccd.2_Missense_Mutation_p.V79M|SLC6A2_uc002eig.2_Missense_Mutation_p.V79M|SLC6A2_uc002eih.2_Missense_Mutation_p.V79M	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	79	Helical; Name=1; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCTGGCCAACGTGTGGCGCTT	0.667												
CES7	221223	broad.mit.edu	37	16	55903559	55903559	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:55903559A>G	uc002eip.2	-	4	664	c.515T>C	c.(514-516)GTC>GCC	p.V172A	CES7_uc002eio.2_Missense_Mutation_p.V172A|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Missense_Mutation_p.V66A	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	172						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		GTACTGGACGACCACAACCAG	0.552												
KATNB1	10300	broad.mit.edu	37	16	57789829	57789829	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:57789829C>T	uc002eml.1	+	17	2017	c.1643C>T	c.(1642-1644)GCC>GTC	p.A548V		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	katanin p80 subunit B 1	548	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity				0		all_neural(199;0.223)				AACCAGAAAGCGTAAGTGGCT	0.617												
PRSS54	221191	broad.mit.edu	37	16	58327706	58327706	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:58327706C>T	uc002enf.2	-	3	410	c.15G>A	c.(13-15)GCG>GCA	p.A5A	PRSS54_uc002eng.2_Silent_p.A5A|PRSS54_uc010vie.1_5'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	5					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CAGAGAGACCCGCCGCGGACA	0.547												
CDH8	1006	broad.mit.edu	37	16	61747860	61747860	+	Silent	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:61747860G>T	uc002eog.1	-	10	1791	c.1539C>A	c.(1537-1539)GTC>GTA	p.V513V		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	513	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAGTTTGAATGACCTGAAACA	0.398												
CDH11	1009	broad.mit.edu	37	16	65005505	65005505	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:65005505T>A	uc002eoi.2	-	11	2053	c.1619A>T	c.(1618-1620)AAT>ATT	p.N540I	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.N540I|CDH11_uc010vin.1_Missense_Mutation_p.N414I	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	540	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GACTGTGAAATTTGGATTGTG	0.413			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
LRRC36	55282	broad.mit.edu	37	16	67410687	67410687	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:67410687G>A	uc002esv.2	+	11	1737	c.1718G>A	c.(1717-1719)TGT>TAT	p.C573Y	LRRC36_uc002esw.2_RNA|LRRC36_uc002esx.2_Missense_Mutation_p.C452Y|LRRC36_uc010vjk.1_Intron|LRRC36_uc010vjl.1_Intron|LRRC36_uc002esy.2_Missense_Mutation_p.C83Y	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	573											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CAGCCGAGGTGTTGCTCACAT	0.532												
HSD11B2	3291	broad.mit.edu	37	16	67469997	67469997	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:67469997C>T	uc002etd.2	+	3	732	c.616C>T	c.(616-618)CTG>TTG	p.L206L		NM_000196	NP_000187	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	206					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	CCTCCTGCCCCTGCTGCGCAG	0.652												
VPS4A	27183	broad.mit.edu	37	16	69352776	69352776	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:69352776C>T	uc002eww.2	+	5	522	c.394C>T	c.(394-396)CTG>TTG	p.L132L		NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting factor 4A	132					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding				0		Ovarian(137;0.101)				CGTGGCCGGGCTGGAGGGGGC	0.488												
DDX19A	55308	broad.mit.edu	37	16	70404246	70404246	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:70404246G>T	uc002eyv.2	+	10	1212	c.1141G>T	c.(1141-1143)GGC>TGC	p.G381C	DDX19B_uc010vly.1_Missense_Mutation_p.G382C|DDX19A_uc002eys.2_Missense_Mutation_p.G382C|DDX19A_uc010cfq.1_Missense_Mutation_p.G136C|DDX19A_uc010cfr.2_Missense_Mutation_p.G231C|DDX19A_uc010cfs.2_Missense_Mutation_p.G204C|DDX19A_uc010vlz.1_Missense_Mutation_p.G350C|DDX19A_uc010vma.1_Missense_Mutation_p.G291C	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN	DDX19-like protein	381	Helicase C-terminal.				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding				0		Ovarian(137;0.221)				CTTCCGAGAGGGCAAAGAGAA	0.617												
FUK	197258	broad.mit.edu	37	16	70497629	70497629	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:70497629C>T	uc002eyy.2	+	3	244	c.186C>T	c.(184-186)AAC>AAT	p.N62N	FUK_uc010vmb.1_Silent_p.N62N|FUK_uc010cft.2_Silent_p.N62N|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	62						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				CCACCCTCAACGCCCTGCTGG	0.657												
MARVELD3	91862	broad.mit.edu	37	16	71668305	71668305	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:71668305A>G	uc002fat.2	+	3	868	c.805A>G	c.(805-807)ATG>GTG	p.M269V	MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	269	MARVEL.|Extracellular (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)				AAAGCTGCCCATGGTCACTGT	0.572												
RFWD3	55159	broad.mit.edu	37	16	74671848	74671848	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:74671848A>G	uc002fda.2	-	7	1198	c.1100T>C	c.(1099-1101)ATG>ACG	p.M367T	RFWD3_uc010cgq.2_Missense_Mutation_p.M367T	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	367	Potential.				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(1)	3						TTTCCTTAGCATCTGTTCCTT	0.507												
WDR59	79726	broad.mit.edu	37	16	74950079	74950079	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:74950079G>T	uc002fdh.1	-	12	1147	c.1045C>A	c.(1045-1047)CTG>ATG	p.L349M	WDR59_uc002fdi.2_Missense_Mutation_p.L349M|WDR59_uc002fdj.2_Missense_Mutation_p.L349M|WDR59_uc002fdg.1_5'Flank	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	349	WD 7.									ovary(1)|breast(1)	2						TCAGTGTGCAGGGTCTTCTCA	0.458												
WDR59	79726	broad.mit.edu	37	16	74976652	74976652	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:74976652C>A	uc002fdh.1	-	7	620	c.518G>T	c.(517-519)CGG>CTG	p.R173L	WDR59_uc002fdi.2_Missense_Mutation_p.R173L|WDR59_uc002fdj.2_Missense_Mutation_p.R173L	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	173	WD 3.									ovary(1)|breast(1)	2						ATCCCATATCCGCACATCGCC	0.473												
WDR59	79726	broad.mit.edu	37	16	74990459	74990459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:74990459G>A	uc002fdh.1	-	3	256	c.154C>T	c.(154-156)CGA>TGA	p.R52*	WDR59_uc002fdi.2_Nonsense_Mutation_p.R52*|WDR59_uc002fdj.2_Nonsense_Mutation_p.R52*	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	52										ovary(1)|breast(1)	2						GAGATCTTTCGGTGACCTTCG	0.428												
CHST6	4166	broad.mit.edu	37	16	75512692	75512692	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:75512692C>T	uc002fef.2	-	3	1215	c.1035G>A	c.(1033-1035)GTG>GTA	p.V345V	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.V345V	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	345	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						ACAGTTCCTGCACGCGGCGGA	0.657												
CHST6	4166	broad.mit.edu	37	16	75512840	75512840	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:75512840G>A	uc002fef.2	-	3	1067	c.887C>T	c.(886-888)ACG>ATG	p.T296M	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.T296M	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	296	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GAGCTGTGGCGTGAGACTGAG	0.642												
ADAT1	23536	broad.mit.edu	37	16	75634173	75634173	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:75634173G>A	uc002feo.1	-	11	1552	c.1450C>T	c.(1450-1452)CGG>TGG	p.R484W	ADAT1_uc002fep.1_Missense_Mutation_p.R335W	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	484	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)|skin(1)	2						ACCTGCTTCCGGAGTGTGCTC	0.522												
VAT1L	57687	broad.mit.edu	37	16	77859247	77859247	+	Silent	SNP	C	C	T	rs73574882	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:77859247C>T	uc002ffg.1	+	3	565	c.468C>T	c.(466-468)TCC>TCT	p.S156S		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport protein 1 homolog (T.	156							oxidoreductase activity|zinc ion binding			central_nervous_system(1)	1						TGAGCTTCTCCGAGGCTGCTG	0.532												
GAN	8139	broad.mit.edu	37	16	81399002	81399002	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:81399002G>T	uc002fgo.2	+	9	1569	c.1421G>T	c.(1420-1422)GGG>GTG	p.G474V		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	474	Kelch 5.		G -> R (in GAN).		cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				TATGTGTTTGGGGGAGTCCGA	0.502												
CMIP	80790	broad.mit.edu	37	16	81730263	81730263	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:81730263C>T	uc002fgp.2	+	14	1701	c.1629C>T	c.(1627-1629)TTC>TTT	p.F543F	CMIP_uc002fgq.1_Silent_p.F449F|CMIP_uc010vnq.1_Silent_p.F356F|CMIP_uc002fgr.1_Silent_p.F390F|CMIP_uc010vnr.1_Silent_p.F109F	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	509						cytoplasm|nucleus					0						GGGAGCTGTTCGCCAGCATGG	0.657												
CDH13	1012	broad.mit.edu	37	16	83378554	83378554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:83378554C>T	uc002fgx.2	+	6	844	c.724C>T	c.(724-726)CGA>TGA	p.R242*	CDH13_uc010vns.1_Nonsense_Mutation_p.R289*|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Nonsense_Mutation_p.R203*	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	242	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GAATGACAACCGACCGATCTT	0.498												
TAF1C	9013	broad.mit.edu	37	16	84214972	84214972	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:84214972C>T	uc002fhn.2	-	10	1432	c.1204G>A	c.(1204-1206)GTG>ATG	p.V402M	TAF1C_uc002fhm.2_Missense_Mutation_p.V309M|TAF1C_uc010vnx.1_Missense_Mutation_p.V376M|TAF1C_uc010vny.1_Translation_Start_Site|TAF1C_uc010vnz.1_Missense_Mutation_p.V70M|TAF1C_uc002fho.2_Translation_Start_Site|TAF1C_uc010voa.1_Missense_Mutation_p.V70M|TAF1C_uc002fhp.1_Intron|TAF1C_uc010vob.1_3'UTR	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	402					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						CGGTCACCCACGGTCAGCACC	0.667												
COX4I1	1327	broad.mit.edu	37	16	85839440	85839440	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:85839440G>A	uc002fje.2	+	4	507	c.343G>A	c.(343-345)GCG>ACG	p.A115T	COX4I1_uc002fjf.2_3'UTR|COX4I1_uc002fjg.1_Missense_Mutation_p.A115T|COX4I1_uc010vom.1_Missense_Mutation_p.A82T	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	115					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)				CGGTTTCACCGCGCTCGTTAT	0.567												
ZC3H18	124245	broad.mit.edu	37	16	88643735	88643735	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:88643735C>T	uc002fky.2	+	2	404	c.204C>T	c.(202-204)GAC>GAT	p.D68D	ZC3H18_uc010voy.1_Silent_p.D68D|ZC3H18_uc010voz.1_Silent_p.D68D|ZC3H18_uc010vpa.1_Silent_p.D68D	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	68						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ATCACTCCGACGAGGAGGACC	0.632												
CDT1	81620	broad.mit.edu	37	16	88874603	88874603	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:88874603T>C	uc002flu.2	+	10	1612	c.1558T>C	c.(1558-1560)TAC>CAC	p.Y520H		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	520					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)		CACCGACACCTACGTCAAGCT	0.672												
ANKRD11	29123	broad.mit.edu	37	16	89348966	89348966	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:89348966T>C	uc002fmx.1	-	9	4445	c.3984A>G	c.(3982-3984)CCA>CCG	p.P1328P	ANKRD11_uc002fmy.1_Silent_p.P1328P|ANKRD11_uc002fnc.1_Silent_p.P1328P|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.P1285P	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1328	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGTCTCCAGGTGGCTCCGTGA	0.587												
DEF8	54849	broad.mit.edu	37	16	90023996	90023996	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:90023996C>T	uc002fpn.1	+	5	572	c.483C>T	c.(481-483)CCC>CCT	p.P161P	DEF8_uc002fpl.2_Silent_p.P100P|DEF8_uc002fpm.2_Silent_p.P100P|DEF8_uc002fpo.1_Silent_p.P100P|DEF8_uc002fpp.1_Silent_p.P90P|DEF8_uc010vpq.1_Silent_p.P40P|DEF8_uc010vpr.1_Silent_p.P100P	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	161					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TGGAGCTGCCCGAGCAGTCGG	0.682												
SCARF1	8578	broad.mit.edu	37	17	1538254	1538254	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:1538254C>A	uc002fsz.1	-	11	2341	c.2291G>T	c.(2290-2292)GGG>GTG	p.G764V	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.G678V	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	764	Gly-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)		CCCTGTGGCCCCAGGAAGCCC	0.667												
SCARF1	8578	broad.mit.edu	37	17	1538786	1538786	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:1538786G>A	uc002fsz.1	-	11	1809	c.1759C>T	c.(1759-1761)CGG>TGG	p.R587W	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R501W	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	587	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)		ACCGATGGCCGCTTGGCCCGA	0.667												
SMG6	23293	broad.mit.edu	37	17	2203202	2203202	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:2203202C>T	uc002fub.1	-	2	900	c.845G>A	c.(844-846)CGA>CAA	p.R282Q	SMG6_uc002fud.1_Missense_Mutation_p.R251Q	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	282	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						CCTATCCTGTCGGCGGCGGCG	0.562												
OR1E2	8388	broad.mit.edu	37	17	3336411	3336411	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:3336411C>T	uc010vre.1	-	1	725	c.725G>A	c.(724-726)GGT>GAT	p.G242D		NM_003554	NP_003545	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E,	242	Cytoplasmic (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			large_intestine(1)	1						CTTGCAGATACCCTTAGAAGA	0.478												
P2RX5	5026	broad.mit.edu	37	17	3593950	3593950	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:3593950A>G	uc002fwi.2	-	4	669	c.385T>C	c.(385-387)TGC>CGC	p.C129R	P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.C129R|P2RX5_uc010vrx.1_Missense_Mutation_p.C69R|P2RX5_uc002fwj.2_Missense_Mutation_p.C105R|P2RX5_uc002fwk.2_Missense_Mutation_p.C129R|P2RX5_uc002fwl.2_Missense_Mutation_p.C105R|P2RX5_uc002fwm.1_Missense_Mutation_p.C129R	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	purinergic receptor P2X5 isoform A	129	Extracellular (Potential).				nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						TCCTTGGAGCACGCGCCATCA	0.642												
C17orf85	55421	broad.mit.edu	37	17	3725318	3725318	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:3725318T>G	uc010ckl.1	-	8	848	c.825A>C	c.(823-825)AGA>AGC	p.R275S	C17orf85_uc002fwr.2_5'UTR|C17orf85_uc002fwq.2_5'UTR	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN	ELG protein isoform a	275							nucleotide binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ACTGACTTCTTCTGGCTGCTC	0.328												
SPNS3	201305	broad.mit.edu	37	17	4391154	4391154	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:4391154C>T	uc002fxt.2	+	12	1548	c.1504C>T	c.(1504-1506)CTT>TTT	p.L502F	SPNS3_uc002fxu.2_Missense_Mutation_p.L375F|SPNS3_uc002fxv.2_Missense_Mutation_p.L153F|uc002fxw.1_5'Flank	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	502					lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1						ACAAGGCCTACTTTCGGGCGC	0.627												
PELP1	27043	broad.mit.edu	37	17	4575196	4575196	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:4575196C>T	uc002fyi.3	-	16	3316	c.3090G>A	c.(3088-3090)GCG>GCA	p.A1030A	PELP1_uc010vsf.1_Intron	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	1030	Glu-rich.|Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GGGAGGGGAGCGCTTCAGGGG	0.672												
ARRB2	409	broad.mit.edu	37	17	4621918	4621918	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:4621918G>A	uc002fyj.2	+	10	946	c.718G>A	c.(718-720)GCC>ACC	p.A240T	ARRB2_uc002fyk.2_Missense_Mutation_p.A225T|ARRB2_uc002fyl.2_Missense_Mutation_p.A240T|ARRB2_uc010vsg.1_Missense_Mutation_p.A261T|ARRB2_uc002fym.2_Missense_Mutation_p.A225T|ARRB2_uc002fyn.2_Missense_Mutation_p.A48T|ARRB2_uc010ckq.2_Missense_Mutation_p.A48T|ARRB2_uc002fyo.2_Missense_Mutation_p.A48T	NM_004313	NP_004304	P32121	ARRB2_HUMAN	arrestin, beta 2 isoform 1	240	Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding				0						GAGACAGTACGCCGACATCTG	0.607												
WSCD1	23302	broad.mit.edu	37	17	6013000	6013000	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:6013000A>G	uc010cli.2	+	6	1302	c.923A>G	c.(922-924)GAT>GGT	p.D308G	WSCD1_uc002gcn.2_Missense_Mutation_p.D308G|WSCD1_uc002gco.2_Missense_Mutation_p.D308G|WSCD1_uc010clj.2_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	308	WSC 2.					integral to membrane	sulfotransferase activity				0						AACCTGCGGGATGCCATGGAC	0.577												
DVL2	1856	broad.mit.edu	37	17	7129221	7129221	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:7129221A>G	uc002gez.1	-	15	2456	c.2174T>C	c.(2173-2175)ATG>ACG	p.M725T	uc002gey.1_5'Flank|MIR324_hsa-mir-324|MI0000813_5'Flank|DVL2_uc010vtr.1_Missense_Mutation_p.M719T	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	725					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						GGGATTGCCCATGGCCATGTG	0.647												
C17orf74	201243	broad.mit.edu	37	17	7329675	7329675	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:7329675G>A	uc002ggw.2	+	3	438	c.365G>A	c.(364-366)CGC>CAC	p.R122H	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	122	Arg-rich.					integral to membrane					0		Prostate(122;0.157)				AGTCTTCTTCGCTGTGTTcgt	0.428												
POLR2A	5430	broad.mit.edu	37	17	7399840	7399840	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:7399840A>G	uc002ghf.3	+	4	679	c.445A>G	c.(445-447)AAG>GAG	p.K149E	POLR2A_uc002ghe.2_Missense_Mutation_p.K149E	NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	149					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				CGACCTTTGCAAGGGCAAAAA	0.532												
POLR2A	5430	broad.mit.edu	37	17	7416809	7416809	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:7416809A>G	uc002ghf.3	+	29	5460	c.5226A>G	c.(5224-5226)TCA>TCG	p.S1742S		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1742	22.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				caagttactcacccaccagcc	0.224												
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:7578457C>T	uc002gim.2	-	5	667	c.473G>A	c.(472-474)CGC>CAC	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	158	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCCATGGCGCGGACGCGGGT	0.627		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
GUCY2D	3000	broad.mit.edu	37	17	7907207	7907207	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:7907207C>T	uc002gjt.2	+	3	833	c.759C>T	c.(757-759)GGC>GGT	p.G253G		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	253	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TGCTGGGTGGCGAGGAGCAGC	0.682												
C17orf59	54785	broad.mit.edu	37	17	8092761	8092761	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:8092761G>A	uc010vut.1	-	1	804	c.698C>T	c.(697-699)CCC>CTC	p.P233L		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	hypothetical protein LOC54785	233	Pro-rich.										0						AGAAGGCGGGGGTGGAGGCGC	0.692												
PFAS	5198	broad.mit.edu	37	17	8168254	8168254	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:8168254C>T	uc002gkr.2	+	18	2232	c.2091C>T	c.(2089-2091)TGC>TGT	p.C697C	PFAS_uc010vuv.1_Silent_p.C273C|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	697					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGCAGCAGTGCGTGGGGCCCC	0.637												
MYH4	4622	broad.mit.edu	37	17	10354694	10354694	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:10354694G>A	uc002gmn.2	-	28	3925	c.3814C>T	c.(3814-3816)CGC>TGC	p.R1272C	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1272	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						TTTATTAAGCGTTGTTGCTCT	0.433												
MYH2	4620	broad.mit.edu	37	17	10429051	10429051	+	Missense_Mutation	SNP	C	C	T	rs142908651	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:10429051C>T	uc010coi.2	-	31	4458	c.4330G>A	c.(4330-4332)GCC>ACC	p.A1444T	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A1444T|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1444	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GCGGCACAGGCGGCATTTGTC	0.493												
MYH2	4620	broad.mit.edu	37	17	10430071	10430071	+	Silent	SNP	G	G	A	rs1042074		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:10430071G>A	uc010coi.2	-	30	4160	c.4032C>T	c.(4030-4032)CAC>CAT	p.H1344H	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.H1344H|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1344	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GGTCACAGTCGTGGCGGGAAG	0.522												
C17orf48	56985	broad.mit.edu	37	17	10608783	10608783	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:10608783C>T	uc002gmt.2	+	2	615	c.540C>T	c.(538-540)TAC>TAT	p.Y180Y	C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Silent_p.Y180Y	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol pyrophosphatase	180							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding				0						CTCCAAAATACGAGCAGTGTA	0.383												
DNAH9	1770	broad.mit.edu	37	17	11757608	11757608	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:11757608T>C	uc002gne.2	+	50	9864	c.9796T>C	c.(9796-9798)TGC>CGC	p.C3266R	DNAH9_uc010coo.2_Missense_Mutation_p.C2560R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3266	Stalk (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)		TGCAGGCCTCTGCTCCTGGGT	0.537												
FAM18B2	201158	broad.mit.edu	37	17	15406410	15406410	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:15406410A>G	uc002goq.2	-	6	782	c.599T>C	c.(598-600)GTA>GCA	p.V200A	CDRT4_uc010vvw.1_Splice_Site_p.Q156_splice|FAM18B2_uc010vvx.1_Intron	NM_145301	NP_660344	Q96ET8	F18B2_HUMAN	hypothetical protein LOC201158 isoform 1	200						integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967)		ATTAATGTCTACCTGATGAAA	0.328												
PIGL	9487	broad.mit.edu	37	17	16221134	16221134	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:16221134A>G	uc002gpv.2	+	6	604	c.572A>G	c.(571-573)TAC>TGC	p.Y191C		NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	191	Cytoplasmic (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		CTGCGCAAGTACATCTCCCTT	0.532												
ULK2	9706	broad.mit.edu	37	17	19746443	19746443	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:19746443T>C	uc002gwm.3	-	8	1145	c.636A>G	c.(634-636)CCA>CCG	p.P212P	ULK2_uc002gwn.2_Silent_p.P212P	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	212	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CCTGAAAAGGTGGTTTTCCAA	0.388												
SUPT6H	6830	broad.mit.edu	37	17	27028130	27028130	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:27028130C>T	uc002hby.2	+	36	5068	c.4978C>T	c.(4978-4980)CGG>TGG	p.R1660W	SUPT6H_uc010crt.2_Missense_Mutation_p.R1660W	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1660					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					CTCCCGGCAACGGCAGCAGCA	0.632												
RAB34	83871	broad.mit.edu	37	17	27043058	27043058	+	Silent	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:27043058G>T	uc002hce.2	-	3	789	c.165C>A	c.(163-165)GTC>GTA	p.V55V	RAB34_uc002hcg.2_Silent_p.V55V|RAB34_uc002hcf.2_Silent_p.V56V|RAB34_uc010was.1_Silent_p.V112V|RAB34_uc010wat.1_Silent_p.V112V|RAB34_uc002hch.2_Silent_p.V55V|RAB34_uc010wau.1_Intron|RAB34_uc010wav.1_Silent_p.V113V	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	55				V -> I (in Ref. 3; BAC11141).	protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					CCACCACAATGACCTTGGAGA	0.582												
TRAF4	9618	broad.mit.edu	37	17	27071213	27071213	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:27071213C>A	uc002hcs.2	+	1	191	c.83C>A	c.(82-84)CCT>CAT	p.P28H	TRAF4_uc002hcq.1_Missense_Mutation_p.P28H	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	28	RING-type.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ATGCGCGAGCCTGTGCAGGTT	0.617												
ANKRD13B	124930	broad.mit.edu	37	17	27935104	27935104	+	Silent	SNP	C	C	T	rs141666210		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:27935104C>T	uc002hei.2	+	3	464	c.351C>T	c.(349-351)CCC>CCT	p.P117P	ANKRD13B_uc002heh.2_Intron|ANKRD13B_uc002hej.2_RNA	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	117											0						CGGGCATCCCCGTGCTCCTGG	0.662												
SLC6A4	6532	broad.mit.edu	37	17	28537665	28537665	+	Splice_Site	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:28537665C>T	uc002hey.3	-	11	1862	c.1318_splice	c.e11-1	p.F440_splice	SLC6A4_uc010csg.2_Splice_Site	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4						response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AGCCTGCAAACTGAGAGGTAC	0.607												
RAB11FIP4	84440	broad.mit.edu	37	17	29855737	29855737	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:29855737G>A	uc002hgn.1	+	13	1823	c.1594G>A	c.(1594-1596)GAG>AAG	p.E532K	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.E430K	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	532	Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TGGCCTAGGCGAGTTCAATGC	0.657												
C17orf75	64149	broad.mit.edu	37	17	30660531	30660531	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:30660531G>A	uc002hhg.2	-	9	911	c.880C>T	c.(880-882)CGG>TGG	p.R294W		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	hypothetical protein LOC64149	294					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCACAAAACCGGTTACTTCCT	0.264												
PSMD11	5717	broad.mit.edu	37	17	30781528	30781528	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:30781528T>C	uc010cta.1	+	3	249	c.209T>C	c.(208-210)CTG>CCG	p.L70P	PSMD11_uc010wbz.1_Missense_Mutation_p.L70P|PSMD11_uc002hhm.2_Missense_Mutation_p.L70P	NM_002815	NP_002806	O00231	PSD11_HUMAN	proteasome 26S non-ATPase subunit 11	70					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGACTCCTGAAGTATGTA	0.428												
AP2B1	163	broad.mit.edu	37	17	33954503	33954503	+	Silent	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:33954503A>C	uc002hjr.2	+	8	1227	c.1038A>C	c.(1036-1038)GCA>GCC	p.A346A	AP2B1_uc002hjq.2_Silent_p.A346A|AP2B1_uc010wci.1_Silent_p.A308A|AP2B1_uc002hjs.2_Silent_p.A289A|AP2B1_uc002hjt.2_Silent_p.A346A|AP2B1_uc010ctv.2_Silent_p.A346A|AP2B1_uc010wcj.1_Silent_p.A83A	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	346					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTCGTTTGGCATCTCAAGCCA	0.403												
MLLT6	4302	broad.mit.edu	37	17	36872835	36872835	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:36872835C>T	uc002hqi.3	+	10	1265	c.1252C>T	c.(1252-1254)CGG>TGG	p.R418W	MLLT6_uc002hqj.2_Intron|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	418					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					CAGCTCAGGCCGGGCCCGGGC	0.662			T	MLL	AL							
MLLT6	4302	broad.mit.edu	37	17	36876066	36876066	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:36876066C>T	uc002hqi.3	+	14	2086	c.2073C>T	c.(2071-2073)GGC>GGT	p.G691G	MLLT6_uc002hqj.2_Silent_p.G126G|MLLT6_uc002hqk.3_Silent_p.G22G	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	691					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					GTGGGGGCGGCCAGTTAGACC	0.687			T	MLL	AL							
CDK12	51755	broad.mit.edu	37	17	37665993	37665993	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:37665993G>A	uc010cvv.2	+	7	3231	c.2645G>A	c.(2644-2646)CGG>CAG	p.R882Q	CDK12_uc010wef.1_Missense_Mutation_p.R881Q|CDK12_uc002hrw.3_Missense_Mutation_p.R882Q	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	882	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.R882L(1)		ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						GGACTTGCTCGGCTCTATAAC	0.289										TCGA Ovarian(9;0.13)		
THRA	7067	broad.mit.edu	37	17	38244504	38244504	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:38244504G>A	uc002htw.2	+	8	1216	c.733G>A	c.(733-735)GAA>AAA	p.E245K	THRA_uc010cwp.1_Missense_Mutation_p.E245K|THRA_uc002htv.2_Missense_Mutation_p.E245K|THRA_uc002htx.2_Missense_Mutation_p.E245K	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	245	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GCTGCCTTGCGAAGACCAGAT	0.647												
THRA	7067	broad.mit.edu	37	17	38244663	38244663	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:38244663G>A	uc002htw.2	+	8	1375	c.892G>A	c.(892-894)GCC>ACC	p.A298T	THRA_uc010cwp.1_Missense_Mutation_p.A298T|THRA_uc002htv.2_Missense_Mutation_p.A298T|THRA_uc002htx.2_Missense_Mutation_p.A298T	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	298	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	AGTCTCCGACGCCATCTTTGA	0.587												
KRT23	25984	broad.mit.edu	37	17	39084602	39084602	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:39084602A>G	uc002hvm.1	-	6	1398	c.809T>C	c.(808-810)ATG>ACG	p.M270T	KRT23_uc010wfl.1_Missense_Mutation_p.M133T|KRT23_uc010cxf.1_Missense_Mutation_p.M57T|KRT23_uc010cxg.2_Missense_Mutation_p.M270T	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	270	Rod.|Coil 2.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				CTCCTGGGACATGGCTGCAGA	0.537												
KRTAP17-1	83902	broad.mit.edu	37	17	39471892	39471892	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:39471892C>T	uc002hwj.2	-	1	56	c.11G>A	c.(10-12)TGC>TAC	p.C4Y		NM_031964	NP_114170	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	4						intermediate filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GTCCCCCGGGCAGCACCCCAT	0.537												
STAT3	6774	broad.mit.edu	37	17	40474440	40474440	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:40474440A>G	uc002hzl.1	-	21	2201	c.1961T>C	c.(1960-1962)ATC>ACC	p.I654T	STAT3_uc002hzk.1_Missense_Mutation_p.I654T|STAT3_uc002hzm.1_Missense_Mutation_p.I654T|STAT3_uc010wgh.1_Missense_Mutation_p.I556T|STAT3_uc002hzn.1_Missense_Mutation_p.I654T	NM_139276	NP_644805	P40763	STAT3_HUMAN	signal transducer and activator of transcription	654	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ATAGCCCATGATGATTTCAGC	0.463									Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome			
PSMC3IP	29893	broad.mit.edu	37	17	40725023	40725023	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:40725023G>A	uc002iai.2	-	8	660	c.617C>T	c.(616-618)ACG>ATG	p.T206M	MLX_uc002iaf.2_3'UTR|MLX_uc002iag.2_3'UTR|MLX_uc002iah.2_3'UTR|PSMC3IP_uc002iaj.2_Missense_Mutation_p.T143M|PSMC3IP_uc002iak.2_Missense_Mutation_p.T194M|PSMC3IP_uc010wgn.1_Missense_Mutation_p.T127M|PSMC3IP_uc010wgo.1_RNA|PSMC3IP_uc010wgp.1_RNA	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein isoform 2	206					DNA recombination|meiosis	nucleus	DNA binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		ATCTTCATCCGTCTCTATCCC	0.527												
ATXN7L3	56970	broad.mit.edu	37	17	42274612	42274612	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:42274612G>A	uc002iga.2	-	3	431	c.340C>T	c.(340-342)CGA>TGA	p.R114*	ATXN7L3_uc010wiv.1_5'Flank|ATXN7L3_uc002ifz.2_Nonsense_Mutation_p.R114*	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	114					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TTGGCGATTCGGCTGCTGTTC	0.627												
EFTUD2	9343	broad.mit.edu	37	17	42961083	42961083	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:42961083C>T	uc002ihn.2	-	5	621	c.360G>A	c.(358-360)GCG>GCA	p.A120A	EFTUD2_uc010wje.1_Silent_p.A85A|EFTUD2_uc010wjf.1_Silent_p.A120A	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	120						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				CCATCAGATCCGCCAAGAAAC	0.438												
KIF18B	146909	broad.mit.edu	37	17	43003848	43003848	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:43003848G>A	uc010wji.1	-	15	2496	c.2395C>T	c.(2395-2397)CGC>TGC	p.R799C	KIF18B_uc002iht.2_Missense_Mutation_p.R808C|KIF18B_uc010wjh.1_Missense_Mutation_p.R796C	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				ATGCGGCTGCGGCCATGGGAG	0.612												
IMP5	162540	broad.mit.edu	37	17	43922639	43922639	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:43922639C>T	uc010wka.1	+	1	367	c.367C>T	c.(367-369)CGG>TGG	p.R123W	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	123	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		CATCGTGAGCCGGGTCAGTGA	0.642												
MAPT	4137	broad.mit.edu	37	17	44061000	44061000	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:44061000C>T	uc002ijr.3	+	6	1150	c.830C>T	c.(829-831)ACA>ATA	p.T277I	MAPT_uc010dau.2_Missense_Mutation_p.T277I|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	277					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)				AAAGTTTCCACAGAGATCCCA	0.637												
NPEPPS	9520	broad.mit.edu	37	17	45663060	45663060	+	Silent	SNP	G	G	A	rs3968301	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:45663060G>A	uc002ilr.3	+	6	1066	c.843G>A	c.(841-843)GCG>GCA	p.A281A	NPEPPS_uc010wkt.1_Silent_p.A277A|NPEPPS_uc010wku.1_Silent_p.A245A|NPEPPS_uc010dba.1_Silent_p.A126A|NPEPPS_uc010wkv.1_5'Flank	NM_006310	NP_006301	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	281					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0						GAAAATTTGCGTTAGAGGTAA	0.378												
ATP5G1	516	broad.mit.edu	37	17	46973104	46973104	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:46973104C>T	uc002iog.2	+	5	518	c.384C>T	c.(382-384)GTC>GTT	p.V128V	ATP5G1_uc002ioh.2_Silent_p.V128V	NM_005175	NP_005166	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	128	Helical; (Potential).				ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding				0						GTTTGATGGTCGCCTTCCTCA	0.572												
NXPH3	11248	broad.mit.edu	37	17	47656007	47656007	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:47656007G>A	uc002ipa.2	+	2	388	c.104G>A	c.(103-105)CGT>CAT	p.R35H	NXPH3_uc010wlw.1_Missense_Mutation_p.R35H	NM_007225	NP_009156	O95157	NXPH3_HUMAN	neurexophilin 3 precursor	35	II.				neuropeptide signaling pathway	extracellular region				pancreas(1)|skin(1)	2	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					GACCCTGAGCGTGATGACCAC	0.647												
FAM117A	81558	broad.mit.edu	37	17	47788784	47788784	+	Missense_Mutation	SNP	G	G	A	rs144428416		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:47788784G>A	uc002ipk.2	-	8	1264	c.1195C>T	c.(1195-1197)CGT>TGT	p.R399C	FAM117A_uc010wlz.1_Missense_Mutation_p.R127C	NM_030802	NP_110429	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	399										ovary(1)	1						GGGCAGTTACGGAAGATGAAG	0.617												
COL1A1	1277	broad.mit.edu	37	17	48265471	48265471	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:48265471C>T	uc002iqm.2	-	44	3373	c.3247G>A	c.(3247-3249)GCC>ACC	p.A1083T		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	1083	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)	GGGCCACGGGCGCCAACAGGG	0.637			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta					
CACNA1G	8913	broad.mit.edu	37	17	48653059	48653059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:48653059C>A	uc002irk.1	+	8	1668	c.1296C>A	c.(1294-1296)TGC>TGA	p.C432*	CACNA1G_uc002iri.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irj.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irl.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irm.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irn.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002iro.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irp.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irq.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irr.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irs.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irt.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irv.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irw.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002iru.1_Nonsense_Mutation_p.C432*|CACNA1G_uc002irx.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002iry.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002irz.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002isa.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002isb.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002isc.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002isd.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002ise.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002isf.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002isg.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002ish.1_Nonsense_Mutation_p.C345*|CACNA1G_uc002isi.1_Nonsense_Mutation_p.C345*	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	432	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCGGCAGCTGCTATGAGGAGC	0.632												
USP32	84669	broad.mit.edu	37	17	58260552	58260552	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:58260552C>A	uc002iyo.1	-	31	4383	c.4097G>T	c.(4096-4098)AGC>ATC	p.S1366I	USP32_uc002iyn.1_Missense_Mutation_p.S1036I	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1366					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GATGTTAGCGCTGAGTGAGGA	0.547												
USP32	84669	broad.mit.edu	37	17	58260568	58260568	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:58260568T>G	uc002iyo.1	-	31	4367	c.4081A>C	c.(4081-4083)AGC>CGC	p.S1361R	USP32_uc002iyn.1_Missense_Mutation_p.S1031R	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1361					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GAGGATGGGCTTTTGCTCAGG	0.572												
MRC2	9902	broad.mit.edu	37	17	60759668	60759668	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:60759668C>T	uc002jad.2	+	20	3278	c.2876C>T	c.(2875-2877)ACG>ATG	p.T959M	MRC2_uc002jae.2_Missense_Mutation_p.T30M|MRC2_uc002jaf.2_Translation_Start_Site	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	959	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACCAAAGAAACGCAGCCCCCA	0.627												
MRC2	9902	broad.mit.edu	37	17	60765721	60765721	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:60765721G>A	uc002jad.2	+	21	3420	c.3018G>A	c.(3016-3018)CAG>CAA	p.Q1006Q	MRC2_uc002jae.2_Silent_p.Q77Q|MRC2_uc002jaf.2_5'UTR	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1006	Extracellular (Potential).|C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CCTGTGAACAGCAAGAGGCCC	0.592												
TANC2	26115	broad.mit.edu	37	17	61498413	61498413	+	Silent	SNP	A	A	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:61498413A>T	uc002jal.3	+	25	5093	c.5070A>T	c.(5068-5070)GGA>GGT	p.G1690G	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Silent_p.G801G	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1690							binding			ovary(2)	2						GTCAGCATGGAGGATTGACCA	0.567												
ACE	1636	broad.mit.edu	37	17	61568704	61568704	+	Silent	SNP	C	C	T	rs148024347	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:61568704C>T	uc002jau.1	+	19	2896	c.2874C>T	c.(2872-2874)CAC>CAT	p.H958H	ACE_uc002jav.1_Silent_p.H384H|ACE_uc010ddv.1_Silent_p.H185H|ACE_uc010wpj.1_Silent_p.H384H|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Silent_p.H204H	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	958	Extracellular (Potential).|Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGGTCTGCCACGCCTCGGCCT	0.607												
STRADA	92335	broad.mit.edu	37	17	61788155	61788155	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:61788155G>A	uc002jbm.2	-	7	549	c.390C>T	c.(388-390)ATC>ATT	p.I130I	STRADA_uc002jbn.2_Silent_p.I72I|STRADA_uc002jbo.2_Silent_p.I93I|STRADA_uc002jbp.2_Silent_p.I93I|STRADA_uc002jbq.2_Silent_p.I72I|STRADA_uc010wpq.1_Silent_p.I86I|STRADA_uc010wpr.1_Silent_p.I101I|STRADA_uc010ddw.2_Silent_p.I101I|STRADA_uc002jbr.2_Silent_p.I72I	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	130	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						GATATGGCACGATATTGGGAT	0.488												
GH1	2688	broad.mit.edu	37	17	61995389	61995389	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:61995389T>C	uc002jdj.2	-	3	341	c.279A>G	c.(277-279)ACA>ACG	p.T93T	GH1_uc002jdi.2_Silent_p.T78T|GH1_uc002jdk.2_Intron|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Silent_p.T93T	NM_000515	NP_000506	P01241	SOMA_HUMAN	growth hormone 1 isoform 1	93					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding				0						ATTTCTGTTGTGTTTCCTCCC	0.567												
GH1	2688	broad.mit.edu	37	17	61995399	61995399	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:61995399C>A	uc002jdj.2	-	3	331	c.269G>T	c.(268-270)AGG>ATG	p.R90M	GH1_uc002jdi.2_Missense_Mutation_p.R75M|GH1_uc002jdk.2_Intron|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Missense_Mutation_p.R90M	NM_000515	NP_000506	P01241	SOMA_HUMAN	growth hormone 1 isoform 1	90					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding				0						TGTTTCCTCCCTGTTGGAGGG	0.557												
SCN4A	6329	broad.mit.edu	37	17	62022785	62022785	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:62022785G>A	uc002jds.1	-	19	3732	c.3655C>T	c.(3655-3657)CGC>TGC	p.R1219C		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1219	III.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	TTGAGCCAGCGGACCTGGCCT	0.582												
SCN4A	6329	broad.mit.edu	37	17	62049185	62049185	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:62049185A>C	uc002jds.1	-	4	585	c.508T>G	c.(508-510)TTT>GTT	p.F170V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	170	Helical; Name=S2 of repeat I; (Potential).|I.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	AGGGACTCAAAGGTGTAGATC	0.592												
CCDC46	201134	broad.mit.edu	37	17	64171304	64171304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:64171304G>A	uc002jfl.2	-	4	547	c.328C>T	c.(328-330)CGA>TGA	p.R110*	CCDC46_uc002jfm.2_Nonsense_Mutation_p.R110*|CCDC46_uc010dep.2_Nonsense_Mutation_p.R110*	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	110						centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			CCTTTTGCTCGTGCTGGATTT	0.358												
AMZ2	51321	broad.mit.edu	37	17	66250543	66250543	+	Splice_Site	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:66250543A>G	uc002jgs.1	+	6	704	c.587_splice	c.e6-2	p.G196_splice	AMZ2_uc002jgr.1_Splice_Site_p.G196_splice|AMZ2_uc002jgt.1_Splice_Site_p.G196_splice|AMZ2_uc002jgu.1_Splice_Site_p.G196_splice|AMZ2_uc002jgv.1_Splice_Site_p.G196_splice|AMZ2_uc002jgw.1_Splice_Site_p.G138_splice|AMZ2_uc002jgy.1_Splice_Site_p.G196_splice	NM_001033572	NP_001028744	Q86W34	AMZ2_HUMAN	archaemetzincins-2 isoform 1								metallopeptidase activity|zinc ion binding				0	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTTTTTTGTAGGTGTGGGGA	0.433												
GPR142	350383	broad.mit.edu	37	17	72366673	72366673	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:72366673A>G	uc010wqy.1	+	3	372	c.372A>G	c.(370-372)CGA>CGG	p.R124R	GPR142_uc010wqx.1_Silent_p.R36R	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	124	Extracellular (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GCCAGCCACGAGTGACCCTGC	0.642												
GPRC5C	55890	broad.mit.edu	37	17	72436770	72436770	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:72436770C>T	uc002jks.2	+	1	894	c.855C>T	c.(853-855)GCC>GCT	p.A285A	GPRC5C_uc002jkp.2_Silent_p.A330A|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Silent_p.A297A|GPRC5C_uc002jkt.2_Silent_p.A285A|GPRC5C_uc002jku.2_5'Flank	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor family C, group 5,	285	Helical; Name=7; (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						TCGCCCTCGCCGCCAATGCCT	0.602												
KIAA0195	9772	broad.mit.edu	37	17	73488759	73488759	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:73488759C>T	uc002jnz.3	+	15	2076	c.1801C>T	c.(1801-1803)CGC>TGC	p.R601C	KIAA0195_uc010wsa.1_Missense_Mutation_p.R611C|KIAA0195_uc010wsb.1_Missense_Mutation_p.R241C|KIAA0195_uc002job.3_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	601					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGTCACCGAGCGCCTGTGCCG	0.627												
ITGB4	3691	broad.mit.edu	37	17	73736900	73736900	+	Silent	SNP	C	C	T	rs148787870		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:73736900C>T	uc002jpg.2	+	22	2764	c.2577C>T	c.(2575-2577)TCC>TCT	p.S859S	ITGB4_uc002jph.2_Silent_p.S859S|ITGB4_uc010dgo.2_Silent_p.S859S|ITGB4_uc002jpi.3_Silent_p.S859S|ITGB4_uc010dgp.1_Missense_Mutation_p.R872W|ITGB4_uc002jpj.2_Silent_p.S859S	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	859	Cytoplasmic (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)			GGCAGATCTCCGGTGTACACA	0.692												
UNK	85451	broad.mit.edu	37	17	73819405	73819405	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:73819405C>T	uc002jpm.2	+	16	2307	c.2307C>T	c.(2305-2307)GGC>GGT	p.G769G		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	693	Potential.						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)			GTGCGGCGGGCGCCGAGTGCG	0.682												
UNK	85451	broad.mit.edu	37	17	73820394	73820394	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:73820394C>T	uc002jpm.2	+	17	2557	c.2557C>T	c.(2557-2559)CGG>TGG	p.R853W		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	777	RING-type; degenerate.						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)			GGAACAGAAGCGGGCAGTGCT	0.642												
EVPL	2125	broad.mit.edu	37	17	74005777	74005777	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:74005777G>A	uc002jqi.2	-	22	3737	c.3509C>T	c.(3508-3510)GCC>GTC	p.A1170V	EVPL_uc010wss.1_Missense_Mutation_p.A1192V|EVPL_uc010wst.1_Missense_Mutation_p.A640V	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1170	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CAGCTCCCTGGCCAGCGTCGC	0.627												
TNRC6C	57690	broad.mit.edu	37	17	76071268	76071268	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:76071268C>T	uc002jud.2	+	9	3569	c.2969C>T	c.(2968-2970)ACC>ATC	p.T990I	TNRC6C_uc002juf.2_Missense_Mutation_p.T987I|TNRC6C_uc002jue.2_Missense_Mutation_p.T987I	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	990	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGGGAGTGACCGACCATAAT	0.547												
TMC6	11322	broad.mit.edu	37	17	76122698	76122698	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:76122698C>T	uc002juj.1	-	2	214	c.88G>A	c.(88-90)GTG>ATG	p.V30M	TMC6_uc010dhf.1_Translation_Start_Site|TMC6_uc002juk.2_Missense_Mutation_p.V30M|TMC6_uc010dhg.1_Missense_Mutation_p.V30M|TMC6_uc002jul.1_Missense_Mutation_p.V30M|TMC6_uc002jum.3_5'Flank|TMC6_uc002jun.3_Missense_Mutation_p.V30M|TMC6_uc002juo.2_Translation_Start_Site|TMC6_uc010wtp.1_5'Flank|TMC6_uc010wtq.1_Missense_Mutation_p.V30M	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	30	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGTCGTGCACTTCGCTTTCA	0.662									Epidermodysplasia_Verruciformis_Familial_Clustering_of			
CBX2	84733	broad.mit.edu	37	17	77758364	77758364	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:77758364C>T	uc002jxc.2	+	5	1164	c.1122C>T	c.(1120-1122)CAC>CAT	p.H374H		NM_005189	NP_005180	Q14781	CBX2_HUMAN	chromobox homolog 2 isoform 1	374					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)			TTGCCCGCCACGCCACCGCCA	0.692												
GAA	2548	broad.mit.edu	37	17	78086452	78086452	+	Silent	SNP	C	C	T	rs61736896	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:78086452C>T	uc002jxo.2	+	14	2012	c.1830C>T	c.(1828-1830)GCC>GCT	p.A610A	GAA_uc002jxp.2_Silent_p.A610A|GAA_uc002jxq.2_Silent_p.A610A	NM_001079803	NP_001073271	P10253	LYAG_HUMAN	acid alpha-glucosidase preproprotein	610			Missing (in GSD2).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			ovary(1)	1	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCCGATACGCCGGCCACTGGA	0.687												
SGSH	6448	broad.mit.edu	37	17	78185909	78185909	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:78185909G>A	uc002jxz.3	-	7	997	c.910C>T	c.(910-912)CGC>TGC	p.R304C	SGSH_uc002jya.3_Missense_Mutation_p.R101C|SGSH_uc002jxy.2_3'UTR|SGSH_uc010wue.1_3'UTR	NM_000199	NP_000190	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase precursor	304			R -> L.		proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGCCCCAGCGTTTTGGGTGC	0.622												
AATK	9625	broad.mit.edu	37	17	79093370	79093370	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:79093370G>A	uc010dia.2	-	13	3974	c.3894C>T	c.(3892-3894)TTC>TTT	p.F1298F	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1298						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGTCCCACGCGAACCCACCAC	0.766												
C17orf56	146705	broad.mit.edu	37	17	79203128	79203128	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:79203128G>T	uc002jzu.1	-	12	1200	c.1178C>A	c.(1177-1179)CCT>CAT	p.P393H	C17orf56_uc002jzr.1_Missense_Mutation_p.P63H|C17orf56_uc002jzs.1_Missense_Mutation_p.P309H|C17orf56_uc002jzt.1_Missense_Mutation_p.P309H|C17orf56_uc002jzv.1_Missense_Mutation_p.P241H|uc002jzw.1_RNA	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	393	Pro-rich.					integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGAACTCAGAGGCTGCAGGAA	0.687												
C17orf70	80233	broad.mit.edu	37	17	79514613	79514613	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:79514613T>C	uc002kaq.2	-	5	1550	c.1495A>G	c.(1495-1497)AGC>GGC	p.S499G	C17orf70_uc002kao.1_Missense_Mutation_p.S148G|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.S348G	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	499					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCCGTGCCGCTTGACAGCAGT	0.597												
HGS	9146	broad.mit.edu	37	17	79668136	79668136	+	Missense_Mutation	SNP	C	C	T	rs147280688		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:79668136C>T	uc002kbg.2	+	21	2275	c.2198C>T	c.(2197-2199)GCG>GTG	p.A733V	MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	733	Interaction with NF2.|Gln-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCCTACATCGCGGGGCAGCAG	0.622												
SLC25A10	1468	broad.mit.edu	37	17	79683871	79683871	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:79683871G>A	uc002kbi.2	+	6	535	c.449G>A	c.(448-450)CGC>CAC	p.R150H	SLC25A10_uc010wut.1_Missense_Mutation_p.R305H|SLC25A10_uc010dif.2_Missense_Mutation_p.R150H|SLC25A10_uc010wuu.1_Missense_Mutation_p.R104H	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier;	150	Solcar 2.				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GGCCTGTACCGCGTAGCTCGT	0.657												
FN3KRP	79672	broad.mit.edu	37	17	80684412	80684412	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:80684412C>A	uc002kfu.2	+	5	575	c.525C>A	c.(523-525)CCC>CCA	p.P175P	FN3KRP_uc010wvr.1_Silent_p.P125P	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	175							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)			GCATTCAGCCCCAGATGGACA	0.592												
METTL4	64863	broad.mit.edu	37	18	2547407	2547407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:2547407C>A	uc002klh.3	-	6	1801	c.1021G>T	c.(1021-1023)GAA>TAA	p.E341*	METTL4_uc010dkj.2_Nonsense_Mutation_p.E138*	NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	methyltransferase like 4	341					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			kidney(1)|skin(1)	2						GGATAAAGTTCTTCCTTTATA	0.403												
MYOM1	8736	broad.mit.edu	37	18	3155028	3155028	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:3155028C>A	uc002klp.2	-	11	1894	c.1560G>T	c.(1558-1560)GAG>GAT	p.E520D	MYOM1_uc002klq.2_Missense_Mutation_p.E520D	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	520	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						CTTTGTTGGCCTCCAAGCACT	0.468												
DLGAP1	9229	broad.mit.edu	37	18	3742432	3742432	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:3742432C>T	uc002kmf.2	-	3	1320	c.1253G>A	c.(1252-1254)CGG>CAG	p.R418Q	DLGAP1_uc010wyz.1_Missense_Mutation_p.R418Q|DLGAP1_uc002kme.1_Missense_Mutation_p.R116Q|DLGAP1_uc010dkn.2_Missense_Mutation_p.R116Q|DLGAP1_uc010wyw.1_Missense_Mutation_p.R124Q|DLGAP1_uc010wyx.1_Missense_Mutation_p.R130Q|DLGAP1_uc010wyy.1_Missense_Mutation_p.R130Q|DLGAP1_uc002kmg.2_Missense_Mutation_p.R116Q|DLGAP1_uc002kmk.2_Missense_Mutation_p.R418Q	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	418					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GTCCAGGCTCCGGTTGATGGA	0.542												
ARHGAP28	79822	broad.mit.edu	37	18	6868234	6868234	+	Splice_Site	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:6868234G>A	uc010wzi.1	+	5	518	c.280_splice	c.e5+1	p.D94_splice	ARHGAP28_uc002knc.2_Splice_Site_p.D219_splice|ARHGAP28_uc002knd.2_Splice_Site_p.D112_splice|ARHGAP28_uc002kne.2_Splice_Site_p.D112_splice|ARHGAP28_uc002knf.2_Splice_Site_p.D103_splice			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;						signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				GCGATAAGTGGTGAGCGGCAT	0.468												
KIAA0802	23255	broad.mit.edu	37	18	8825125	8825125	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:8825125C>T	uc002knr.2	+	15	3759	c.3617C>T	c.(3616-3618)ACG>ATG	p.T1206M	KIAA0802_uc002knq.2_Missense_Mutation_p.T1165M|KIAA0802_uc002kns.2_Missense_Mutation_p.T546M	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1516											0						GACAGCATCACGGCGGCAGGT	0.672												
GNAL	2774	broad.mit.edu	37	18	11881066	11881066	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:11881066C>T	uc010dkz.2	+	13	1324	c.1078C>T	c.(1078-1080)CGC>TGC	p.R360C	GNAL_uc002kqc.2_Missense_Mutation_p.R437C|GNAL_uc002kqd.2_Missense_Mutation_p.R360C|GNAL_uc010wzt.1_Missense_Mutation_p.R153C	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	360					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						AGAGAACATCCGCAGGGTGTT	0.612												
SPIRE1	56907	broad.mit.edu	37	18	12506498	12506498	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:12506498C>A	uc002kre.2	-	6	997	c.950G>T	c.(949-951)AGA>ATA	p.R317I	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.R197I|SPIRE1_uc010wzx.1_Missense_Mutation_p.R120I|SPIRE1_uc010wzy.1_Missense_Mutation_p.R317I	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	317	WH2 1.					cytoskeleton|perinuclear region of cytoplasm	actin binding				0						CAAGGTGTATCTTTTGCAGCG	0.303												
C18orf19	125228	broad.mit.edu	37	18	13666626	13666626	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:13666626C>T	uc010dlh.2	-	5	1104	c.672G>A	c.(670-672)ACG>ACA	p.T224T	C18orf19_uc010dlg.2_3'UTR|C18orf19_uc010dli.2_Silent_p.T224T|C18orf19_uc002ksj.3_Silent_p.T224T|C18orf19_uc010dlj.2_RNA	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	224	DUF1279.					integral to membrane				breast(2)	2						CGGGTGGCGGCGTGGACATGT	0.468												
ROCK1	6093	broad.mit.edu	37	18	18619431	18619431	+	Splice_Site	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:18619431A>G	uc002kte.2	-	9	1992	c.1051_splice	c.e9+1	p.T351_splice		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein						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)					AAAAAAACTTACTGTCTCGGA	0.348												
LAMA3	3909	broad.mit.edu	37	18	21402305	21402305	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:21402305A>G	uc002kuq.2	+	20	2480	c.2394A>G	c.(2392-2394)GCA>GCG	p.A798A	LAMA3_uc002kur.2_Silent_p.A798A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	798	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAACTGAAGCAGTATCTGGCC	0.368												
ZNF521	25925	broad.mit.edu	37	18	22805769	22805769	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:22805769A>G	uc002kvk.2	-	4	2360	c.2113T>C	c.(2113-2115)TCA>CCA	p.S705P	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S705P|ZNF521_uc002kvl.2_Missense_Mutation_p.S485P	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	705	C2H2-type 16.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCATCCACTGATGTGAATTGC	0.438			T	PAX5	ALL							
FAM59A	64762	broad.mit.edu	37	18	29848392	29848392	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:29848392G>A	uc002kxl.2	-	6	2129	c.2073C>T	c.(2071-2073)AGC>AGT	p.S691S	FAM59A_uc002kxk.1_Silent_p.S690S	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	691										ovary(1)|skin(1)	2						AACCAGAGACGCTGCTACTGA	0.537												
SIGLEC15	284266	broad.mit.edu	37	18	43418992	43418992	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:43418992G>A	uc002lbl.1	+	4	955	c.806G>A	c.(805-807)GGC>GAC	p.G269D	SIGLEC15_uc010xcp.1_RNA	NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15 precursor	269	Helical; (Potential).					integral to membrane					0						CTCCTGCTCGGCGCTCTCGGC	0.756												
KATNAL2	83473	broad.mit.edu	37	18	44601709	44601709	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:44601709C>T	uc002lco.2	+	11	1048	c.854C>T	c.(853-855)TCG>TTG	p.S285L	KATNAL2_uc010dnq.1_Missense_Mutation_p.S64L|KATNAL2_uc002lcp.3_Missense_Mutation_p.S212L	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	357						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						GAGCTGGAGTCGGTGATGAGT	0.507												
WDR7	23335	broad.mit.edu	37	18	54424333	54424333	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:54424333C>A	uc002lgk.1	+	15	2720	c.2509C>A	c.(2509-2511)CTC>ATC	p.L837I	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.L837I	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	837										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		ATCGTTTGGCCTCTTGTCAAG	0.502												
ZNF532	55205	broad.mit.edu	37	18	56586416	56586416	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:56586416G>A	uc002lho.2	+	4	1444	c.897G>A	c.(895-897)CCG>CCA	p.P299P	ZNF532_uc002lhp.2_Silent_p.P297P|ZNF532_uc010xeg.1_Silent_p.P297P|ZNF532_uc002lhr.2_Silent_p.P297P|ZNF532_uc002lhs.2_Silent_p.P297P	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						AATCCTCCCCGTTACCAAAAG	0.542												
DOK6	220164	broad.mit.edu	37	18	67068491	67068491	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:67068491A>G	uc002lkl.2	+	1	201	c.11A>G	c.(10-12)AAC>AGC	p.N4S		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	4							insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ATGGCCTCCAACTTTAACGAC	0.677												
ZNF516	9658	broad.mit.edu	37	18	74153359	74153359	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:74153359G>A	uc010dqx.1	-	2	1887	c.1652C>T	c.(1651-1653)GCG>GTG	p.A551V	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	551					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)		GGCCCGCGCCGCCCTGTCCCC	0.701												
ZNF516	9658	broad.mit.edu	37	18	74154335	74154335	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:74154335C>T	uc010dqx.1	-	2	911	c.676G>A	c.(676-678)GCG>ACG	p.A226T	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	226					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)		GGCCCCTGCGCGGTGATGTGG	0.697												
ZNF236	7776	broad.mit.edu	37	18	74583714	74583714	+	Silent	SNP	G	G	A	rs144913116	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:74583714G>A	uc002lmi.2	+	5	792	c.594G>A	c.(592-594)TCG>TCA	p.S198S	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Silent_p.S198S	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	198	C2H2-type 6.				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)		TCACGTATTCGTGTCCGCACT	0.423												
NFATC1	4772	broad.mit.edu	37	18	77171366	77171366	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:77171366C>G	uc010xfg.1	+	2	1544	c.1091C>G	c.(1090-1092)GCC>GGC	p.A364G	NFATC1_uc002lnc.1_Missense_Mutation_p.A364G|NFATC1_uc010xff.1_Missense_Mutation_p.A364G|NFATC1_uc002lnd.2_Missense_Mutation_p.A364G|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.A364G|NFATC1_uc010xfi.1_Missense_Mutation_p.A351G|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.A351G|NFATC1_uc002lng.2_Missense_Mutation_p.A351G|NFATC1_uc010xfk.1_Missense_Mutation_p.A351G	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	364					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGCCCCCGGCCGACTTCGCG	0.697												
ODF3L2	284451	broad.mit.edu	37	19	474717	474717	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:474717G>A	uc002lor.2	-	1	267	c.31C>T	c.(31-33)CGG>TGG	p.R11W	ODF3L2_uc010drp.2_Missense_Mutation_p.R11W	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	11											0						GTGGCCAGCCGTGGGGTGGAG	0.706												
GZMM	3004	broad.mit.edu	37	19	549629	549629	+	Splice_Site	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:549629G>T	uc002low.1	+	5	658	c.613_splice	c.e5-1	p.G205_splice		NM_005317	NP_005308	P51124	GRAM_HUMAN	granzyme M precursor						apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCCCTGCAGGGTGACTCGG	0.682												
ELANE	1991	broad.mit.edu	37	19	853270	853270	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:853270G>A	uc002lqb.2	+	3	271	c.233G>A	c.(232-234)CGC>CAC	p.R78H		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	78	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGAAACGTCCGCGCGGTGCGG	0.741									Kostmann_syndrome			
C19orf22	91300	broad.mit.edu	37	19	899652	899652	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:899652C>T	uc002lqg.2	-	6	664	c.596G>A	c.(595-597)CGG>CAG	p.R199Q	C19orf22_uc002lqh.2_Missense_Mutation_p.R178Q|C19orf22_uc002lqi.2_Silent_p.S198S|C19orf22_uc002lqj.2_Missense_Mutation_p.R77Q	NM_138774	NP_620129	Q96D70	CS022_HUMAN	hypothetical protein LOC91300	199	R3H.					nucleus	nucleic acid binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGAAGAACCGAAGCAGCCG	0.692												
HMHA1	23526	broad.mit.edu	37	19	1080948	1080948	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:1080948G>A	uc002lqz.1	+	17	2306	c.2075G>A	c.(2074-2076)CGC>CAC	p.R692H	HMHA1_uc010xgd.1_Missense_Mutation_p.R708H|HMHA1_uc010xge.1_Missense_Mutation_p.R560H|HMHA1_uc002lra.1_Missense_Mutation_p.R532H|HMHA1_uc002lrb.1_Missense_Mutation_p.R575H|HMHA1_uc002lrc.1_Missense_Mutation_p.R327H|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	692					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)		GGACCGTTCCGCCACGAGGGG	0.692												
APC2	10297	broad.mit.edu	37	19	1466078	1466078	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:1466078C>T	uc002lsr.1	+	15	2986	c.2778C>T	c.(2776-2778)AGC>AGT	p.S926S	APC2_uc002lss.1_Silent_p.S508S|APC2_uc002lst.1_Silent_p.S926S|APC2_uc002lsu.1_Silent_p.S925S|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	926					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)		CCAACGACAGCCTCAACAGCG	0.741												
MBD3	53615	broad.mit.edu	37	19	1592612	1592612	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:1592612C>A	uc002ltl.1	-	1	41	c.19G>T	c.(19-21)GAG>TAG	p.E7*	MBD3_uc002ltj.2_Nonsense_Mutation_p.E7*|MBD3_uc002ltk.2_Intron	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	7	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGGCACTCCCACCTCTTC	0.448												
FAM108A1	81926	broad.mit.edu	37	19	1877672	1877672	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:1877672G>A	uc002lug.2	-	4	948	c.542C>T	c.(541-543)CCG>CTG	p.P181L	FAM108A1_uc002lud.2_Intron|FAM108A1_uc002lue.2_Missense_Mutation_p.P181L|FAM108A1_uc002luf.2_Missense_Mutation_p.P232L	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN	hypothetical protein LOC81926 isoform 2	181						extracellular region	hydrolase activity				0		Ovarian(11;0.000137)		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)		GATGCTGTCCGGGCTGATGCC	0.741												
MKNK2	2872	broad.mit.edu	37	19	2039737	2039737	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:2039737C>T	uc002lus.2	-	14	1518	c.1273G>A	c.(1273-1275)GTC>ATC	p.V425I	MKNK2_uc002luq.1_Intron|MKNK2_uc010xgu.1_Missense_Mutation_p.V264I|MKNK2_uc010xgv.1_Missense_Mutation_p.V294I|MKNK2_uc002lur.2_Intron|MKNK2_uc002lut.1_3'UTR	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	425					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(1)|breast(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGACCAGGACGGGCTGGCCC	0.701												
SLC39A3	29985	broad.mit.edu	37	19	2733465	2733465	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:2733465G>T	uc002lwg.2	-	3	483	c.229C>A	c.(229-231)CTC>ATC	p.L77I	SLC39A3_uc010xgy.1_Missense_Mutation_p.L77I	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	77	Extracellular (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter 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)		ATGTGGCCGAGGCTCAGGACC	0.637												
TLE6	79816	broad.mit.edu	37	19	2989160	2989160	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:2989160G>A	uc002lwu.2	+	11	873	c.473G>A	c.(472-474)CGG>CAG	p.R158Q	TLE6_uc002lwt.2_Missense_Mutation_p.R281Q|TLE6_uc010dtg.2_Missense_Mutation_p.R281Q|TLE6_uc002lwv.2_Missense_Mutation_p.R62Q	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	158					regulation of transcription, DNA-dependent	nucleus				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)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAAAGATGCGGATCTTGGCA	0.602												
TLE2	7089	broad.mit.edu	37	19	3009542	3009542	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3009542C>T	uc002lww.2	-	13	1434	c.1171G>A	c.(1171-1173)GTG>ATG	p.V391M	TLE2_uc010xhb.1_Missense_Mutation_p.V58M|TLE2_uc010dth.2_Missense_Mutation_p.V392M|TLE2_uc010xhc.1_Missense_Mutation_p.V269M|TLE2_uc010dti.2_Missense_Mutation_p.V405M|TLE2_uc010xhd.1_Missense_Mutation_p.V299M	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	391	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				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)		GGACTCACCACGGGGGAGCGT	0.642												
S1PR4	8698	broad.mit.edu	37	19	3179113	3179113	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3179113C>G	uc002lxg.2	+	1	348	c.323C>G	c.(322-324)GCC>GGC	p.A108G		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	108	Extracellular (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|skin(1)	2						CTGTCGGGGGCCCGCACCTTC	0.677												
S1PR4	8698	broad.mit.edu	37	19	3179520	3179520	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3179520C>T	uc002lxg.2	+	1	755	c.730C>T	c.(730-732)CGC>TGC	p.R244C		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	244	Cytoplasmic (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|skin(1)	2						AGCGGCCCGCCGCAAGGCCCG	0.697												
NCLN	56926	broad.mit.edu	37	19	3204661	3204661	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3204661C>T	uc002lxi.2	+	9	1274	c.1120C>T	c.(1120-1122)CGC>TGC	p.R374C	NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_Missense_Mutation_p.R19C	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	374	Lumenal (Potential).				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCACGAGCGCTTCGCCAT	0.687												
NFIC	4782	broad.mit.edu	37	19	3452527	3452527	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3452527A>G	uc010xhi.1	+	8	1194	c.1132A>G	c.(1132-1134)ACG>GCG	p.T378A	NFIC_uc002lxo.2_Missense_Mutation_p.T369A|NFIC_uc010xhh.1_Missense_Mutation_p.T369A|NFIC_uc002lxp.2_Missense_Mutation_p.T378A|NFIC_uc010xhj.1_Missense_Mutation_p.T378A	NM_205843	NP_995315	P08651	NFIC_HUMAN	nuclear factor I/C isoform 2	378					DNA replication|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|sequence-specific DNA binding transcription factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		TTTCCCTACGACGTCCATCCT	0.647												
DOHH	83475	broad.mit.edu	37	19	3491749	3491749	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3491749T>C	uc002lxs.2	-	5	813	c.650A>G	c.(649-651)CAG>CGG	p.Q217R	DOHH_uc010xhl.1_Missense_Mutation_p.Q217R	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	217	HEAT-like PBS-type 4.				peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTCGTGCTGCAGCTGTCC	0.731												
FZR1	51343	broad.mit.edu	37	19	3523010	3523010	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3523010G>A	uc010dtk.2	+	1	57	c.23G>A	c.(22-24)CGC>CAC	p.R8H	FZR1_uc002lxt.2_Missense_Mutation_p.R8H|FZR1_uc002lxv.2_Missense_Mutation_p.R8H	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	8					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TATGAGCGGCGCCTGCTTCGC	0.687												
TBXA2R	6915	broad.mit.edu	37	19	3595833	3595833	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3595833G>A	uc002lyg.1	-	3	1099	c.885C>T	c.(883-885)CGC>CGT	p.R295R	TBXA2R_uc002lye.1_Missense_Mutation_p.R166C	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	295	Helical; Name=7; (Potential).			R->Q: Reduces antagonist binding.	platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AGGTGGCCACGCGCAAGTAGA	0.672												
MATK	4145	broad.mit.edu	37	19	3784121	3784121	+	Splice_Site	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3784121C>T	uc002lyt.2	-	5	762	c.362_splice	c.e5+1	p.P121_splice	MATK_uc002lyv.2_Splice_Site_p.P122_splice|MATK_uc002lyu.2_Splice_Site_p.P80_splice|MATK_uc010dtq.2_Splice_Site_p.P121_splice	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform						cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCACTCACGGCATGAGGC	0.701												
KDM4B	23030	broad.mit.edu	37	19	5133979	5133979	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:5133979G>A	uc002mbq.3	+	14	2218	c.1992G>A	c.(1990-1992)GCG>GCA	p.A664A	KDM4B_uc010xim.1_Silent_p.A698A|KDM4B_uc002mbr.3_Silent_p.A422A	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	664					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						AGAACAGGGCGGCCAGCTTCC	0.632												
PTPRS	5802	broad.mit.edu	37	19	5207965	5207965	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:5207965G>A	uc002mbv.2	-	37	5980	c.5746C>T	c.(5746-5748)CGA>TGA	p.R1916*	PTPRS_uc002mbu.1_Nonsense_Mutation_p.R1485*|PTPRS_uc010xin.1_Nonsense_Mutation_p.R1458*|PTPRS_uc002mbw.2_Nonsense_Mutation_p.R1878*|PTPRS_uc002mbx.2_Nonsense_Mutation_p.R1473*|PTPRS_uc002mby.2_Nonsense_Mutation_p.R1469*	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1916	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CGCTGGGTTCGTAGCATCTTC	0.577												
FUT5	2527	broad.mit.edu	37	19	5867620	5867620	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:5867620G>A	uc002mdo.3	-	2	205	c.117C>T	c.(115-117)GAC>GAT	p.D39D	FUT5_uc010duo.2_Silent_p.D39D	NM_002034	NP_002025	Q11128	FUT5_HUMAN	fucosyltransferase 5	39	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0						CAGTGGCATCGTCTCGGGACA	0.652												
RANBP3	8498	broad.mit.edu	37	19	5923223	5923223	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:5923223C>T	uc002mdw.2	-	13	1418	c.1191G>A	c.(1189-1191)GCG>GCA	p.A397A	RANBP3_uc002mdv.2_Silent_p.A116A|RANBP3_uc002mdx.2_Silent_p.A392A|RANBP3_uc002mdy.2_Silent_p.A329A|RANBP3_uc002mdz.2_Silent_p.A324A|RANBP3_uc010duq.2_Silent_p.A302A|RANBP3_uc002mea.2_Silent_p.A264A|RANBP3_uc010xix.1_Silent_p.A269A	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	397	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						CATTGCTCTCCGCCTCCTCCC	0.622												
RANBP3	8498	broad.mit.edu	37	19	5923269	5923269	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:5923269C>T	uc002mdw.2	-	13	1372	c.1145G>A	c.(1144-1146)CGG>CAG	p.R382Q	RANBP3_uc002mdv.2_Missense_Mutation_p.R101Q|RANBP3_uc002mdx.2_Missense_Mutation_p.R377Q|RANBP3_uc002mdy.2_Missense_Mutation_p.R314Q|RANBP3_uc002mdz.2_Missense_Mutation_p.R309Q|RANBP3_uc010duq.2_Missense_Mutation_p.R287Q|RANBP3_uc002mea.2_Missense_Mutation_p.R249Q|RANBP3_uc010xix.1_Missense_Mutation_p.R254Q	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	382	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						CAAACACTTCCGCGCTGTTGC	0.567												
C3	718	broad.mit.edu	37	19	6697783	6697783	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:6697783G>A	uc002mfm.2	-	20	2525	c.2463C>T	c.(2461-2463)TTC>TTT	p.F821F		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	821					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTGTGACCTCGAAGGGGTCTG	0.562												
PNPLA6	10908	broad.mit.edu	37	19	7615275	7615275	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:7615275A>G	uc010xjq.1	+	17	2128	c.1933A>G	c.(1933-1935)ATC>GTC	p.I645V	PNPLA6_uc002mgq.1_Missense_Mutation_p.I597V|PNPLA6_uc010xjp.1_Missense_Mutation_p.I571V|PNPLA6_uc002mgr.1_Missense_Mutation_p.I597V|PNPLA6_uc002mgs.2_Missense_Mutation_p.I636V	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	636	Cytoplasmic (Potential).|cNMP 3.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						GGACTTCGCCATCGACTGGAC	0.687												
TRAPPC5	126003	broad.mit.edu	37	19	7747332	7747332	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:7747332G>A	uc002mhi.1	+	2	263	c.193G>A	c.(193-195)GTG>ATG	p.V65M	TRAPPC5_uc002mhj.1_Missense_Mutation_p.V65M|TRAPPC5_uc002mhk.1_Missense_Mutation_p.V65M	NM_001042462	NP_001035927	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	65					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding				0						GGGCGCGCGCGTGCTGGATGC	0.701												
EVI5L	115704	broad.mit.edu	37	19	7925501	7925501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:7925501C>T	uc002min.2	+	13	1550	c.1396C>T	c.(1396-1398)CAG>TAG	p.Q466*	EVI5L_uc010xjz.1_Nonsense_Mutation_p.Q477*	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	466						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						CGAGCTGGAGCAGTCGAGGCT	0.662												
LRRC8E	80131	broad.mit.edu	37	19	7965091	7965091	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:7965091A>G	uc002mir.2	+	3	1785	c.1684A>G	c.(1684-1686)AGG>GGG	p.R562G		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	562	LRR 3.					integral to membrane				lung(1)|pancreas(1)	2						CCACCTGCAGAGGCTCAGCCT	0.662												
MAP2K7	5609	broad.mit.edu	37	19	7976013	7976013	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:7976013C>T	uc002mit.2	+	7	889	c.824C>T	c.(823-825)ACG>ATG	p.T275M	MAP2K7_uc002miv.2_Missense_Mutation_p.T275M|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.T275M|MAP2K7_uc010dvv.2_Missense_Mutation_p.T150M	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	275	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	AAAGCCAAGACGCGGAGCGCC	0.701												
MAP2K7	5609	broad.mit.edu	37	19	7976364	7976364	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:7976364C>T	uc002mit.2	+	9	1045	c.980C>T	c.(979-981)ACG>ATG	p.T327M	MAP2K7_uc002miv.2_Missense_Mutation_p.T334M|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.T334M|MAP2K7_uc010dvv.2_Missense_Mutation_p.T202M	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	327	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	AACTGCAAGACGGACTTTGAG	0.592												
ELAVL1	1994	broad.mit.edu	37	19	8032648	8032648	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:8032648G>A	uc002mjb.2	-	5	624	c.457C>T	c.(457-459)CGG>TGG	p.R153W		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	153	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						TTGTCAAACCGGATAAACGCA	0.453												
MYO1F	4542	broad.mit.edu	37	19	8595190	8595190	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:8595190C>T	uc002mkg.2	-	21	2332	c.2218G>A	c.(2218-2220)GTC>ATC	p.V740I		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	740						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						TAGTCCCCGACGAAGTTCCGA	0.627												
MBD3L1	85509	broad.mit.edu	37	19	8953587	8953587	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:8953587G>T	uc002mko.2	+	1	319	c.233G>T	c.(232-234)AGC>ATC	p.S78I		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like	78	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						CAGGCTTACAGCAGTGCAGGA	0.517												
MUC16	94025	broad.mit.edu	37	19	9064269	9064269	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:9064269G>A	uc002mkp.2	-	3	23381	c.23177C>T	c.(23176-23178)GCG>GTG	p.A7726V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7728	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGTGGTTGTCGCCGGGCCAGA	0.522												
MUC16	94025	broad.mit.edu	37	19	9090001	9090001	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:9090001A>G	uc002mkp.2	-	1	2018	c.1814T>C	c.(1813-1815)GTT>GCT	p.V605A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	605	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCCAGTGGGAACAGCAAACTG	0.542												
OR1M1	125963	broad.mit.edu	37	19	9204336	9204336	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:9204336G>A	uc010xkj.1	+	1	416	c.416G>A	c.(415-417)CGC>CAC	p.R139H		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3						ATGAGCCTACGCCTCTGTCGC	0.572												
OR7G3	390883	broad.mit.edu	37	19	9237177	9237177	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:9237177G>A	uc010xkl.1	-	1	450	c.450C>T	c.(448-450)ATC>ATT	p.I150I		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GGACACTAACGATGAAGGACA	0.493												
OR7D4	125958	broad.mit.edu	37	19	9325369	9325369	+	Missense_Mutation	SNP	C	C	T	rs112089905		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:9325369C>T	uc002mla.1	-	1	145	c.145G>A	c.(145-147)GTC>ATC	p.V49I		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	49	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TCAGAGCTGACGGCCAGAATG	0.552												
ZNF426	79088	broad.mit.edu	37	19	9639964	9639964	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:9639964C>T	uc002mlq.2	-	8	1021	c.757G>A	c.(757-759)GAA>AAA	p.E253K	ZNF426_uc010dws.2_Missense_Mutation_p.E215K	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTCCTCCATTCGTAGAGTTTT	0.383												
ZNF846	162993	broad.mit.edu	37	19	9868260	9868260	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:9868260C>T	uc002mmb.1	-	6	2024	c.1493G>A	c.(1492-1494)CGA>CAA	p.R498Q	ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Missense_Mutation_p.R369Q	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	498	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGTGTGAGTTCGTGTGTGAAC	0.403												
EIF3G	8666	broad.mit.edu	37	19	10226676	10226676	+	Missense_Mutation	SNP	G	G	A	rs150270880		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:10226676G>A	uc002mnd.2	-	8	734	c.670C>T	c.(670-672)CGC>TGC	p.R224C		NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	224						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TCCCCGCGGCGGCTGGCCCCG	0.667												
ZGLP1	100125288	broad.mit.edu	37	19	10419343	10419343	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:10419343C>A	uc002mnw.3	-	1	891	c.15G>T	c.(13-15)CAG>CAT	p.Q5H	FDX1L_uc002mnx.1_Intron	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN	GATA like protein-1	5					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CACACCCCACCTGAGGTTCAG	0.577												
TYK2	7297	broad.mit.edu	37	19	10463754	10463754	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:10463754C>T	uc002moc.3	-	22	3426	c.3048G>A	c.(3046-3048)GCG>GCA	p.A1016A	TYK2_uc010dxe.2_Silent_p.A831A	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	1016	Protein kinase 2.			A -> S (in Ref. 3; AAH14243).	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)			TGTAGTGCTGCGCGTGCAGAT	0.687												
DOCK6	57572	broad.mit.edu	37	19	11312710	11312710	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:11312710C>T	uc002mqs.3	-	44	5584	c.5543G>A	c.(5542-5544)CGC>CAC	p.R1848H	DOCK6_uc002mqr.3_Missense_Mutation_p.R248H|DOCK6_uc010xlq.1_Missense_Mutation_p.R1187H	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1848	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CAGGAATGTGCGAAGCCCATA	0.602												
LPPR2	64748	broad.mit.edu	37	19	11471968	11471968	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:11471968C>A	uc002mre.1	+	6	804	c.467C>A	c.(466-468)CCA>CAA	p.P156Q	LPPR2_uc002mrf.1_Missense_Mutation_p.P131Q|LPPR2_uc010dxy.1_5'UTR	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	156						integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						AATCCCACGCCACACTTCCTG	0.652												
HOOK2	29911	broad.mit.edu	37	19	12878234	12878234	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:12878234C>T	uc002muy.2	-	14	1519	c.1348G>A	c.(1348-1350)GCA>ACA	p.A450T	HOOK2_uc010xmq.1_5'Flank|HOOK2_uc002muz.2_Missense_Mutation_p.A450T	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	450	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						AGGATCTCTGCGGCTAAGTTA	0.622												
NFIX	4784	broad.mit.edu	37	19	13192571	13192571	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:13192571C>T	uc010xmx.1	+	8	1233	c.1180C>T	c.(1180-1182)CAC>TAC	p.H394Y	NFIX_uc002mwd.2_Missense_Mutation_p.H386Y|NFIX_uc002mwe.2_Missense_Mutation_p.H378Y|NFIX_uc002mwf.2_Missense_Mutation_p.H348Y|NFIX_uc002mwg.1_Missense_Mutation_p.H385Y			Q14938	NFIX_HUMAN	RecName: Full=Nuclear factor 1;	386					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GTATTTCACGCACCCGACCAT	0.637												
NACC1	112939	broad.mit.edu	37	19	13249192	13249192	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:13249192C>T	uc002mwm.2	+	6	1724	c.1556C>T	c.(1555-1557)GCG>GTG	p.A519V		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	519					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						GAGGGCGAGGCGGGTCCCTCG	0.632												
CC2D1A	54862	broad.mit.edu	37	19	14029985	14029985	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:14029985G>A	uc002mxo.2	+	11	1491	c.1192G>A	c.(1192-1194)GTG>ATG	p.V398M	CC2D1A_uc002mxn.2_Missense_Mutation_p.V297M|CC2D1A_uc002mxp.2_Missense_Mutation_p.V398M|CC2D1A_uc010dzh.2_Silent_p.P11P|CC2D1A_uc002mxq.1_Missense_Mutation_p.V43M	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	398					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGGCCGAGCCGTGGATGTCGC	0.711												
IL27RA	9466	broad.mit.edu	37	19	14161599	14161599	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:14161599C>T	uc002mxx.2	+	11	1855	c.1432C>T	c.(1432-1434)CCT>TCT	p.P478S		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	478	Extracellular (Potential).|Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						TGTCACCCTGCCTGACCTTCC	0.488												
CCDC105	126402	broad.mit.edu	37	19	15121966	15121966	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:15121966C>T	uc002nae.2	+	1	428	c.329C>T	c.(328-330)CCG>CTG	p.P110L	SLC1A6_uc010xod.1_5'Flank	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	110					microtubule cytoskeleton organization	microtubule				ovary(1)	1						GCCCGCCTGCCGCTACCCTTG	0.736												
CIB3	117286	broad.mit.edu	37	19	16280466	16280466	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:16280466A>C	uc002nds.2	-	3	173	c.173T>G	c.(172-174)CTC>CGC	p.L58R	CIB3_uc010eae.2_5'UTR|CIB3_uc010eaf.2_Intron|CIB3_uc010eag.2_Intron	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	DNA-dependent protein kinase catalytic	58							calcium ion binding			ovary(1)	1						GCTGCCAATGAGCTCGTAGGG	0.498												
NWD1	284434	broad.mit.edu	37	19	16918919	16918919	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:16918919G>A	uc002neu.3	+	18	4681	c.4259G>A	c.(4258-4260)CGC>CAC	p.R1420H	NWD1_uc002net.3_Missense_Mutation_p.R1285H|NWD1_uc002nev.3_Missense_Mutation_p.R1214H			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	1420	WD 12.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CTGCAGGCACGCAAGTGGAAA	0.572												
CPAMD8	27151	broad.mit.edu	37	19	17085950	17085950	+	Missense_Mutation	SNP	G	G	A	rs145011766	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:17085950G>A	uc002nfb.2	-	17	2200	c.2168C>T	c.(2167-2169)CCG>CTG	p.P723L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	676						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CCAAGGCCACGGGAAGACAGA	0.567												
CPAMD8	27151	broad.mit.edu	37	19	17132959	17132959	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:17132959C>T	uc002nfb.2	-	2	298	c.266G>A	c.(265-267)CGC>CAC	p.R89H		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	42						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						CACGCCCGCGCGAAAAACAGA	0.597												
C19orf62	29086	broad.mit.edu	37	19	17387324	17387324	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:17387324C>T	uc002nfu.2	+	7	708	c.590C>T	c.(589-591)CCG>CTG	p.P197L	C19orf62_uc010xpl.1_Missense_Mutation_p.P122L|C19orf62_uc002nfv.2_Missense_Mutation_p.P197L|C19orf62_uc010ean.2_RNA|C19orf62_uc002nfw.2_Missense_Mutation_p.P197L	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN	mediator of Rap80 interactions and targeting 40	197	VWFA-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						ACTGAGCTTCCGGTCACAGAG	0.602												
JAK3	3718	broad.mit.edu	37	19	17950336	17950336	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:17950336A>G	uc002nhn.3	-	10	1491	c.1391T>C	c.(1390-1392)GTA>GCA	p.V464A	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.V464A|JAK3_uc010xpx.1_Missense_Mutation_p.V464A	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	464	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						CACCCCATCTACGTGCAGCCC	0.632		2	Mis		acute megakaryocytic leukemia|							
SLC5A5	6528	broad.mit.edu	37	19	17994765	17994765	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:17994765C>T	uc002nhr.3	+	12	1783	c.1436C>T	c.(1435-1437)TCG>TTG	p.S479L		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	479	Extracellular (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CTGCCATCGTCGGCTGCCCGC	0.697												
KIAA1683	80726	broad.mit.edu	37	19	18375782	18375782	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:18375782A>G	uc002nin.2	-	3	2784	c.2568T>C	c.(2566-2568)CGT>CGC	p.R856R	KIAA1683_uc010ebn.2_Silent_p.R856R|KIAA1683_uc010xqe.1_Silent_p.R810R	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	856						mitochondrion				ovary(2)	2						ATGGCTGGGCACGTGTGGCTC	0.652												
UPF1	5976	broad.mit.edu	37	19	18968240	18968240	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:18968240C>T	uc002nkg.2	+	15	2388	c.2113C>T	c.(2113-2115)CGG>TGG	p.R705W	UPF1_uc002nkf.2_Missense_Mutation_p.R694W|UPF1_uc002nkh.2_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	705					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCTGGGCATCCGGCCCATCCG	0.647												
TMEM161A	54929	broad.mit.edu	37	19	19245617	19245617	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:19245617G>A	uc002nlg.2	-	2	113	c.83C>T	c.(82-84)GCG>GTG	p.A28V	TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.A28V|TMEM161A_uc002nli.2_Missense_Mutation_p.A28V|TMEM161A_uc002nlj.2_Intron	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A precursor	28					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)	2			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CAGCCAGCGCGCGAAGGAGCA	0.706												
TM6SF2	53345	broad.mit.edu	37	19	19379464	19379464	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:19379464G>A	uc002nmd.1	-	6	634	c.584C>T	c.(583-585)GCG>GTG	p.A195V	HAPLN4_uc002nmc.2_Intron	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	195						integral to membrane					0			Epithelial(12;0.0151)			GCGGGTTAGCGCCCGGGGCTG	0.587												
GMIP	51291	broad.mit.edu	37	19	19745506	19745506	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:19745506C>T	uc002nnd.2	-	18	2011	c.1894G>A	c.(1894-1896)GAG>AAG	p.E632K	GMIP_uc010xrb.1_Missense_Mutation_p.E606K|GMIP_uc010xrc.1_Missense_Mutation_p.E603K	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	632	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						ATCACGGGCTCGGTGAGCTGG	0.672												
ZNF99	7652	broad.mit.edu	37	19	22940118	22940118	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:22940118A>G	uc010xrh.1	-	6	2213	c.2213T>C	c.(2212-2214)ATA>ACA	p.I738T		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTATGAATTATCTCATGTTT	0.343												
PLEKHF1	79156	broad.mit.edu	37	19	30165261	30165261	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:30165261G>A	uc002nsh.3	+	2	617	c.515G>A	c.(514-516)CGC>CAC	p.R172H	PLEKHF1_uc002nsi.3_Missense_Mutation_p.R257H	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	172	FYVE-type.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CTCACGAGGCGCCACCACTGC	0.716												
CCNE1	898	broad.mit.edu	37	19	30313457	30313457	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:30313457G>A	uc002nsn.2	+	11	1240	c.1057G>A	c.(1057-1059)GCT>ACT	p.A353T	CCNE1_uc002nso.2_Missense_Mutation_p.A338T|CCNE1_uc002nsp.2_Missense_Mutation_p.A100T	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	353					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CAGGGGCGTCGCTGATGAAGA	0.483												
ZNF536	9745	broad.mit.edu	37	19	30934952	30934952	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:30934952G>A	uc002nsu.1	+	2	621	c.483G>A	c.(481-483)CCG>CCA	p.P161P	ZNF536_uc010edd.1_Silent_p.P161P	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	161	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TCAAGTGCCCGTACTGCGACC	0.657												
ATP4A	495	broad.mit.edu	37	19	36053482	36053482	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:36053482C>T	uc002oal.1	-	4	304	c.275G>A	c.(274-276)CGG>CAG	p.R92Q		NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	92	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCGTGGTGGCCGCAGTGCGTT	0.711												
MLL4	9757	broad.mit.edu	37	19	36218396	36218396	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:36218396C>A	uc010eei.2	+	17	4175	c.4175C>A	c.(4174-4176)CCG>CAG	p.P1392Q		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1392	PHD-type 3.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACCTGCGGACCGTGTGCTGGG	0.637												
CLIP3	25999	broad.mit.edu	37	19	36515405	36515405	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:36515405C>T	uc010eeq.1	-	6	1093	c.811G>A	c.(811-813)GCC>ACC	p.A271T	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.A271T	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	271					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGGGGAGGGCGCAAGATAGT	0.617												
HKR1	284459	broad.mit.edu	37	19	37853630	37853630	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:37853630G>A	uc002ogb.2	+	6	1202	c.933G>A	c.(931-933)ACG>ACA	p.T311T	HKR1_uc002ofx.2_Silent_p.T27T|HKR1_uc002ofy.2_Silent_p.T27T|HKR1_uc002oga.2_Silent_p.T293T|HKR1_uc010xto.1_Silent_p.T293T|HKR1_uc002ogc.2_Silent_p.T292T|HKR1_uc010xtp.1_Silent_p.T250T|HKR1_uc002ogd.2_Silent_p.T250T	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	311	C2H2-type 1.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGGCTTTACGTGGAAGTCAA	0.507												
YIF1B	90522	broad.mit.edu	37	19	38800114	38800114	+	Silent	SNP	C	C	T	rs149031198		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:38800114C>T	uc002ohz.2	-	2	277	c.228G>A	c.(226-228)CCG>CCA	p.P76P	YIF1B_uc002ohw.2_Silent_p.P45P|YIF1B_uc002ohx.2_Silent_p.P61P|YIF1B_uc010xtx.1_Silent_p.P59P|YIF1B_uc010xty.1_Silent_p.P45P|YIF1B_uc002oia.2_Silent_p.P73P|YIF1B_uc002ohy.2_Silent_p.P73P|YIF1B_uc002oib.2_Silent_p.P73P	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B isoform 5	76	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGTTGGACACCGGGTCAGCCA	0.682												
MAP4K1	11184	broad.mit.edu	37	19	39101768	39101768	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:39101768C>T	uc002oix.1	-	11	841	c.733G>A	c.(733-735)GCT>ACT	p.A245T	MAP4K1_uc002oiy.1_Missense_Mutation_p.A245T|MAP4K1_uc010xug.1_Intron	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	245	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGAAGGCAGCCGACCTTGGG	0.582												
CAPN12	147968	broad.mit.edu	37	19	39232520	39232520	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:39232520C>T	uc002ojd.1	-	4	766	c.457G>A	c.(457-459)GTG>ATG	p.V153M		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	153	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCATCCACCACGACGTCCATC	0.647												
HNRNPL	3191	broad.mit.edu	37	19	39331172	39331172	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:39331172C>T	uc010xul.1	-	7	919	c.908G>A	c.(907-909)CGC>CAC	p.R303H	HNRNPL_uc010ege.1_5'Flank|HNRNPL_uc002ojj.1_5'Flank|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_5'UTR|HNRNPL_uc002ojl.2_5'UTR|HNRNPL_uc010xum.1_Missense_Mutation_p.R170H|HNRNPL_uc002ojp.1_5'Flank|HNRNPL_uc010xun.1_Missense_Mutation_p.A11T	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	303					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTGCCTCTGGCGTTTGTTGGG	0.622												
PAK4	10298	broad.mit.edu	37	19	39669209	39669209	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:39669209G>A	uc002okj.1	+	11	2227	c.1766G>A	c.(1765-1767)CGC>CAC	p.R589H	PAK4_uc002okl.1_Missense_Mutation_p.R589H|PAK4_uc002okn.1_Missense_Mutation_p.R589H|PAK4_uc002okm.1_Missense_Mutation_p.R436H|PAK4_uc002oko.1_Missense_Mutation_p.R436H|PAK4_uc002okp.1_Missense_Mutation_p.R499H	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	p21-activated kinase 4 isoform 1	589					cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CGCCAGAACCGCACCAGATGA	0.716												
SUPT5H	6829	broad.mit.edu	37	19	39964942	39964942	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:39964942G>A	uc002olo.3	+	27	2899	c.2720G>A	c.(2719-2721)AGC>AAC	p.S907N	SUPT5H_uc002olp.3_Missense_Mutation_p.S907N|SUPT5H_uc002olq.3_Missense_Mutation_p.S903N|SUPT5H_uc002oln.3_Missense_Mutation_p.S907N|SUPT5H_uc002olr.3_Missense_Mutation_p.S907N|SUPT5H_uc002ols.1_Missense_Mutation_p.S530N	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	907	CTR2-6.|10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCAGCCCCAGCCCCCAGAGC	0.617											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DLL3	10683	broad.mit.edu	37	19	39997971	39997971	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:39997971G>A	uc002olx.2	+	7	1444	c.1386G>A	c.(1384-1386)GCG>GCA	p.A462A	DLL3_uc002olw.2_Silent_p.A462A	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	462	EGF-like 6.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACATGGGAGCGCGGTGTGAGT	0.756												
FCGBP	8857	broad.mit.edu	37	19	40392595	40392595	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:40392595G>A	uc002omp.3	-	16	7917	c.7909C>T	c.(7909-7911)CCG>TCG	p.P2637S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	2637	VWFD 6.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGCTCCCCGGCGGGCAGGTG	0.662												
SPTBN4	57731	broad.mit.edu	37	19	41071343	41071343	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:41071343T>C	uc002ony.2	+	28	6016	c.5930T>C	c.(5929-5931)GTG>GCG	p.V1977A	SPTBN4_uc002onz.2_Missense_Mutation_p.V1977A|SPTBN4_uc010egx.2_Missense_Mutation_p.V720A	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1977	Spectrin 17.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGTCATCAGTGGAGGTGCTC	0.637												
SHKBP1	92799	broad.mit.edu	37	19	41089528	41089528	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:41089528G>A	uc002oob.2	+	12	1119	c.1070G>A	c.(1069-1071)CGC>CAC	p.R357H	SHKBP1_uc002ooc.2_Missense_Mutation_p.R332H|SHKBP1_uc002ood.2_Missense_Mutation_p.R357H|SHKBP1_uc010xvl.1_Missense_Mutation_p.R280H|SHKBP1_uc002ooe.2_Missense_Mutation_p.R194H|SHKBP1_uc002oof.2_Missense_Mutation_p.R194H|SHKBP1_uc010xvm.1_Missense_Mutation_p.R194H|SHKBP1_uc010xvn.1_Missense_Mutation_p.R235H	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	357	WD 3.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCCCCTTGCGCATGAAAGAC	0.622												
AXL	558	broad.mit.edu	37	19	41727914	41727914	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:41727914T>C	uc010ehj.2	+	4	729	c.539T>C	c.(538-540)CTG>CCG	p.L180P	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.L180P|AXL_uc010ehk.2_Missense_Mutation_p.L180P	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	180	Ig-like C2-type 2.|Extracellular (Potential).					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						GCTGTCCCCCTGGCCACGGCT	0.677												
BCKDHA	593	broad.mit.edu	37	19	41928266	41928266	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:41928266G>A	uc002oqq.2	+	6	873	c.844G>A	c.(844-846)GAT>AAT	p.D282N	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Missense_Mutation_p.D316N|BCKDHA_uc002oqp.1_Missense_Mutation_p.D174N|BCKDHA_uc002oqr.2_Missense_Mutation_p.D282N|BCKDHA_uc010xvz.1_Missense_Mutation_p.D260N	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	282					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						GTATCGCGGCGATGGCATTGG	0.612												
ATP1A3	478	broad.mit.edu	37	19	42489287	42489287	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:42489287C>T	uc002osg.2	-	8	930	c.776G>A	c.(775-777)CGT>CAT	p.R259H	ATP1A3_uc010xwf.1_Missense_Mutation_p.R270H|ATP1A3_uc010xwg.1_Missense_Mutation_p.R229H|ATP1A3_uc010xwh.1_Missense_Mutation_p.R272H|ATP1A3_uc002osh.2_Missense_Mutation_p.R259H	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	259	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						GGTGGCGATACGGCCCATGAC	0.662												
MEGF8	1954	broad.mit.edu	37	19	42838217	42838217	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:42838217T>C	uc002otl.3	+	3	1045	c.410T>C	c.(409-411)TTC>TCC	p.F137S	MEGF8_uc002otm.3_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	137	Extracellular (Potential).|CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				AACGCCTCATTCCGCTTCTCC	0.662												
PSG3	5671	broad.mit.edu	37	19	43243066	43243066	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:43243066T>C	uc002oue.2	-	2	372	c.240A>G	c.(238-240)ACA>ACG	p.T80T	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Silent_p.T102T	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	80	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				CTACGTATGATGTAATGTAAT	0.438												
ZNF223	7766	broad.mit.edu	37	19	44570671	44570671	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:44570671A>G	uc002oyf.1	+	5	943	c.690A>G	c.(688-690)AAA>AAG	p.K230K	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				CTGGAGAGAAACCTTTCAAAT	0.413												
ZNF223	7766	broad.mit.edu	37	19	44571426	44571426	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:44571426C>T	uc002oyf.1	+	5	1698	c.1445C>T	c.(1444-1446)ACG>ATG	p.T482M	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)				ttaaatgacacgtaagtgttg	0.169												
ZNF284	342909	broad.mit.edu	37	19	44590277	44590277	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:44590277T>C	uc002oyg.1	+	5	862	c.646T>C	c.(646-648)TCA>CCA	p.S216P	ZNF284_uc010ejd.2_RNA	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	zinc finger protein 284	216	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				TAGTCAGAACTCACAACTGCA	0.413												
ZNF229	7772	broad.mit.edu	37	19	44933612	44933612	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:44933612C>T	uc002oze.1	-	6	1778	c.1344G>A	c.(1342-1344)CTG>CTA	p.L448L	ZNF229_uc010ejk.1_Silent_p.L102L|ZNF229_uc010ejl.1_Silent_p.L442L	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	448	C2H2-type 5.				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)				GGTGTTTGTGCAGTGCAGACT	0.552												
CLPTM1	1209	broad.mit.edu	37	19	45477833	45477833	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:45477833T>C	uc002pai.2	+	4	462	c.447T>C	c.(445-447)TTT>TTC	p.F149F	CLPTM1_uc010ejv.1_Silent_p.F47F|CLPTM1_uc010xxf.1_Silent_p.F47F|CLPTM1_uc010xxg.1_Silent_p.F135F	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	149	Extracellular (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)		ACGAGCACTTTGCTGAGCTCG	0.582												
GPR4	2828	broad.mit.edu	37	19	46094297	46094297	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:46094297G>A	uc002pcm.2	-	2	1773	c.828C>T	c.(826-828)AGC>AGT	p.S276S	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	276	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CACAGTTGAGGCTGGTGAAAG	0.642												
GPR4	2828	broad.mit.edu	37	19	46095110	46095110	+	Silent	SNP	C	C	T	rs138937906	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:46095110C>T	uc002pcm.2	-	2	960	c.15G>A	c.(13-15)ACG>ACA	p.T5T	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	5	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGCCCTCCCACGTGTGGTTGC	0.692												
DMWD	1762	broad.mit.edu	37	19	46288999	46288999	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:46288999C>T	uc002pdj.1	-	3	1801	c.1755G>A	c.(1753-1755)CCG>CCA	p.P585P	DMWD_uc002pdk.1_Silent_p.P585P|DMWD_uc010eko.1_Silent_p.P270P	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	585					meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGTGGATGCGCGGGCACAGCG	0.682												
PPP5C	5536	broad.mit.edu	37	19	46857124	46857124	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:46857124G>A	uc002pem.2	+	2	301	c.241G>A	c.(241-243)GCG>ACG	p.A81T	PPP5C_uc010xya.1_5'UTR|PPP5C_uc002pen.2_Missense_Mutation_p.A81T	NM_006247	NP_006238	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	81	TPR 2.				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)		CTATGGCTACGCGCTGGGAGA	0.597												
CALM3	808	broad.mit.edu	37	19	47111800	47111800	+	Silent	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:47111800A>C	uc002pew.2	+	4	420	c.240A>C	c.(238-240)ACA>ACC	p.T80T	CALM3_uc010ekp.2_Silent_p.T44T|CALM3_uc010xyc.1_Silent_p.T80T	NM_005184	NP_005175	P62158	CALM_HUMAN	calmodulin 3	80					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			ovary(1)	1		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	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)	TGAAGGACACAGACAGTGAGG	0.577												
EHD2	30846	broad.mit.edu	37	19	48244520	48244520	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:48244520G>A	uc002phj.3	+	6	1713	c.1463G>A	c.(1462-1464)CGC>CAC	p.R488H	EHD2_uc010xyu.1_Missense_Mutation_p.R352H|EHD2_uc010xyv.1_Missense_Mutation_p.R171H	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	488	EF-hand.|EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GTGCTGGGGCGCATCTGGAAG	0.642												
CCDC114	93233	broad.mit.edu	37	19	48801561	48801561	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:48801561C>T	uc002pir.2	-	11	1849	c.1166G>A	c.(1165-1167)AGC>AAC	p.S389N	CCDC114_uc002piq.2_Missense_Mutation_p.S198N|CCDC114_uc002pio.2_Missense_Mutation_p.S426N|CCDC114_uc002pis.1_Missense_Mutation_p.S69N|CCDC114_uc002pit.1_Missense_Mutation_p.S426N	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	389										ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GATCATGCTGCTGTCGCAATG	0.622												
FAM83E	54854	broad.mit.edu	37	19	49106977	49106977	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49106977C>T	uc002pjn.2	-	4	1015	c.950G>A	c.(949-951)CGC>CAC	p.R317H		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	317										ovary(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CACGGAGCGGCGGCGGGACAC	0.796												
GYS1	2997	broad.mit.edu	37	19	49472863	49472863	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49472863C>A	uc002plp.2	-	16	2137	c.1896G>T	c.(1894-1896)CAG>CAT	p.Q632H	GYS1_uc010xzy.1_Missense_Mutation_p.Q265H|GYS1_uc010emm.2_Missense_Mutation_p.Q568H|GYS1_uc010xzz.1_Missense_Mutation_p.Q552H	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	632					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AGCGGTACCCCTGGGCCTGCA	0.667												
LIN7B	64130	broad.mit.edu	37	19	49619616	49619616	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49619616G>T	uc002pmp.2	+	4	369	c.325G>T	c.(325-327)GGT>TGT	p.G109C		NM_022165	NP_071448	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B	109	PDZ.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding				0		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		CAACATCATGGGTGGCAAAGA	0.612												
HRC	3270	broad.mit.edu	37	19	49658222	49658222	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49658222C>A	uc002pmv.2	-	1	460	c.273G>T	c.(271-273)GAG>GAT	p.E91D	TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	91					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(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;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATCTTCATCCTCCTTTTCAC	0.537												
PIH1D1	55011	broad.mit.edu	37	19	49949871	49949871	+	Silent	SNP	G	G	A	rs138938752	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49949871G>A	uc002pns.2	-	8	1052	c.768C>T	c.(766-768)GAC>GAT	p.D256D	uc002pnr.1_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	256					box C/D snoRNP assembly	pre-snoRNP complex					0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GGATATAAGCGTCTAGATGAT	0.612												
ALDH16A1	126133	broad.mit.edu	37	19	49967402	49967402	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49967402G>A	uc002pnt.2	+	10	1329	c.1213G>A	c.(1213-1215)GTG>ATG	p.V405M	ALDH16A1_uc010yar.1_Missense_Mutation_p.V354M|ALDH16A1_uc010yas.1_Missense_Mutation_p.V240M|ALDH16A1_uc010yat.1_Missense_Mutation_p.V242M	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	405							oxidoreductase activity|protein binding			skin(1)	1		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GCCTGTGGTCGTGGCCTCCCC	0.726												
SCAF1	58506	broad.mit.edu	37	19	50155690	50155690	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50155690C>T	uc002poq.2	+	7	2168	c.2044C>T	c.(2044-2046)CGC>TGC	p.R682C		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	682	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGACAGCCGCCGCCGGGGGGC	0.602												
TSKS	60385	broad.mit.edu	37	19	50249978	50249978	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50249978C>A	uc002ppm.2	-	6	752	c.741G>T	c.(739-741)GAG>GAT	p.E247D		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	247							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		cctgcttctcctccggctcct	0.303												
TSKS	60385	broad.mit.edu	37	19	50265282	50265282	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50265282G>A	uc002ppm.2	-	2	389	c.378C>T	c.(376-378)GAC>GAT	p.D126D		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	126							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TGATGTCTGCGTCATCCGGAT	0.637												
PTOV1	53635	broad.mit.edu	37	19	50357701	50357701	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50357701T>C	uc002pqf.1	+	2	380	c.210T>C	c.(208-210)GGT>GGC	p.G70G	uc002ppy.3_5'Flank|PTOV1_uc010ybf.1_Silent_p.G38G|PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.G38G|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GTCCCATCGGTCCCTCCTCAC	0.672												
IL4I1	259307	broad.mit.edu	37	19	50397670	50397670	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50397670T>C	uc002pqt.1	-	5	500	c.422A>G	c.(421-423)TAC>TGC	p.Y141C	IL4I1_uc002pqv.1_Missense_Mutation_p.Y150C|IL4I1_uc010eno.1_Missense_Mutation_p.Y149C|IL4I1_uc002pqw.1_Missense_Mutation_p.Y149C|IL4I1_uc002pqu.1_Missense_Mutation_p.Y163C	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	141						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GTTCTTGTCGTACTGGGTGAA	0.622												
MYH14	79784	broad.mit.edu	37	19	50713782	50713782	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50713782C>T	uc002prr.1	+	2	207	c.160C>T	c.(160-162)CGT>TGT	p.R54C	MYH14_uc010enu.1_Missense_Mutation_p.R54C|MYH14_uc002prq.1_Missense_Mutation_p.R54C	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	54	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GACGGCCCGGCGTCTCGTGTG	0.766												
MYH14	79784	broad.mit.edu	37	19	50804952	50804952	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50804952G>A	uc002prr.1	+	38	5428	c.5381G>A	c.(5380-5382)CGC>CAC	p.R1794H	MYH14_uc010enu.1_Missense_Mutation_p.R1835H|MYH14_uc002prq.1_Missense_Mutation_p.R1802H|MYH14_uc010ycb.1_Missense_Mutation_p.R145H|MYH14_uc002prs.1_Missense_Mutation_p.R145H	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1794	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCAGCTGAGCGCAGTTTCTCA	0.612												
KLK15	55554	broad.mit.edu	37	19	51330383	51330383	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:51330383G>A	uc002ptl.2	-	3	263	c.232C>T	c.(232-234)CGC>TGC	p.R78C	KLK15_uc002ptm.2_Missense_Mutation_p.R78C|KLK15_uc002ptn.2_Missense_Mutation_p.R78C|KLK15_uc002pto.2_Missense_Mutation_p.R77C|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Missense_Mutation_p.R77C|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	78	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TCGCGCTTGCGCAGGTTGTGC	0.632												
KLK5	25818	broad.mit.edu	37	19	51451957	51451957	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:51451957G>A	uc002pue.2	-	6	883	c.665C>T	c.(664-666)CCG>CTG	p.P222L	KLK5_uc002puf.2_Missense_Mutation_p.P222L|KLK5_uc002pug.2_Missense_Mutation_p.P222L	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	222	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TATCTGTCTCGGGTAAGCATC	0.453												
ZNF616	90317	broad.mit.edu	37	19	52619872	52619872	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:52619872T>C	uc002pym.2	-	4	828	c.545A>G	c.(544-546)GAA>GGA	p.E182G	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATACGTTTTTTCCCTAATGTG	0.373												
NLRP12	91662	broad.mit.edu	37	19	54313858	54313858	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:54313858C>T	uc002qch.3	-	3	1275	c.1055G>A	c.(1054-1056)CGT>CAT	p.R352H	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R352H|NLRP12_uc002qcj.3_Missense_Mutation_p.R352H|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R352H	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	352	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTCCAGCAGACGGTGGAGCTT	0.547												
MYADM	91663	broad.mit.edu	37	19	54377265	54377265	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:54377265G>A	uc002qcl.2	+	3	630	c.482G>A	c.(481-483)CGG>CAG	p.R161Q	MYADM_uc002qcm.2_Missense_Mutation_p.R161Q|MYADM_uc002qcn.2_Missense_Mutation_p.R161Q|MYADM_uc002qco.2_Missense_Mutation_p.R161Q|MYADM_uc002qcp.2_Missense_Mutation_p.R161Q	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	161	MARVEL 1.					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ACCCGGGCCCGGCCCGGCGAG	0.662												
PRPF31	26121	broad.mit.edu	37	19	54632444	54632444	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:54632444G>A	uc002qdh.2	+	12	1555	c.1159G>A	c.(1159-1161)GCC>ACC	p.A387T	PRPF31_uc010yek.1_Missense_Mutation_p.A387T	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	387					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGAGGAGGACGCCTACCAGGA	0.677												
LILRB5	10990	broad.mit.edu	37	19	54756410	54756410	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:54756410G>T	uc002qex.2	-	10	1585	c.1474C>A	c.(1474-1476)CAT>AAT	p.H492N	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.H484N|LILRB5_uc002qey.2_Missense_Mutation_p.H493N|LILRB5_uc002qez.2_Missense_Mutation_p.H393N|LILRB5_uc002qfa.1_3'UTR	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	492	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGGTAGAAATGGGCTGGACAG	0.602												
RDH13	112724	broad.mit.edu	37	19	55558836	55558836	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:55558836C>T	uc002qio.3	-	6	864	c.679G>A	c.(679-681)GCC>ACC	p.A227T	RDH13_uc002qip.2_Missense_Mutation_p.A156T|RDH13_uc010esr.1_RNA	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	227							binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GGGTGCAGGGCGTTGACAGTC	0.647												
RDH13	112724	broad.mit.edu	37	19	55560066	55560066	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:55560066C>T	uc002qio.3	-	4	591	c.406G>A	c.(406-408)GAG>AAG	p.E136K	RDH13_uc002qip.2_Missense_Mutation_p.E65K|RDH13_uc010esr.1_RNA	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	136							binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	AAGCCGTCCTCGGTGGTCCAG	0.512												
C19orf51	352909	broad.mit.edu	37	19	55672679	55672679	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:55672679G>A	uc002qji.1	-	7	805	c.771C>T	c.(769-771)TCC>TCT	p.S257S	C19orf51_uc002qjh.1_Silent_p.S72S|C19orf51_uc002qjj.1_Silent_p.S304S|C19orf51_uc002qjk.1_Silent_p.S203S|C19orf51_uc002qjl.1_Silent_p.S325S			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	257											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGAGGCGACCGGACGCCAGGG	0.652												
SBK2	646643	broad.mit.edu	37	19	56047629	56047629	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:56047629C>T	uc010ygc.1	-	1	33	c.33G>A	c.(31-33)GCG>GCA	p.A11A		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	SH3-binding domain kinase family, member 2	11							ATP binding|protein serine/threonine kinase activity				0						CCCCTGCCTCCGCCGGCCCTT	0.572												
U2AF2	11338	broad.mit.edu	37	19	56170618	56170618	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:56170618G>A	uc002qlu.2	+	2	1147	c.92G>A	c.(91-93)CGC>CAC	p.R31H	U2AF2_uc002qlt.2_Missense_Mutation_p.R31H	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	31	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGCCACAGCCGCTCTCGGAGC	0.711												
U2AF2	11338	broad.mit.edu	37	19	56181034	56181034	+	Silent	SNP	C	C	T	rs142476432	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:56181034C>T	uc002qlu.2	+	11	2324	c.1269C>T	c.(1267-1269)GGC>GGT	p.G423G	U2AF2_uc002qlt.2_Silent_p.G419G	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	423	RRM 3.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTGTGGACGGCGTCGAGGTGC	0.478												
ZNF835	90485	broad.mit.edu	37	19	57175913	57175913	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:57175913G>A	uc010ygo.1	-	2	720	c.720C>T	c.(718-720)GGC>GGT	p.G240G	ZNF835_uc010ygn.1_Silent_p.G218G	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						AGGGCCGCTCGCCCGTGTGCA	0.711												
ZNF835	90485	broad.mit.edu	37	19	57175984	57175984	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:57175984G>A	uc010ygo.1	-	2	649	c.649C>T	c.(649-651)CGC>TGC	p.R217C	ZNF835_uc010ygn.1_Missense_Mutation_p.R195C	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						TCGGCGCAGCGGTGCGGCTTC	0.736												
ZNF264	9422	broad.mit.edu	37	19	57723721	57723721	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:57723721G>A	uc002qob.2	+	4	1669	c.1256G>A	c.(1255-1257)CGG>CAG	p.R419Q		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	419	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AGGCACCAGCGGATTCACACT	0.522												
ZNF530	348327	broad.mit.edu	37	19	58117806	58117806	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:58117806C>T	uc002qpk.2	+	3	1133	c.913C>T	c.(913-915)CGC>TGC	p.R305C	ZNF547_uc002qpm.3_Silent_p.F287F|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	305	C2H2-type 3.				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;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAAATCCTTTCGCCAGGTATC	0.443												
ZNF8	7554	broad.mit.edu	37	19	58806624	58806624	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:58806624C>T	uc002qry.1	+	4	1580	c.1450C>T	c.(1450-1452)CGG>TGG	p.R484W	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	484	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TCACCTCATCCGGCACCAGAT	0.537												
TPO	7173	broad.mit.edu	37	2	1437209	1437209	+	Splice_Site	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:1437209G>T	uc002qww.2	+	4	271	c.180_splice	c.e4-1	p.R60_splice	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Splice_Site_p.R60_splice|TPO_uc002qwu.2_Splice_Site_p.R60_splice|TPO_uc002qwr.2_Splice_Site_p.R60_splice|TPO_uc002qwx.2_Splice_Site_p.R60_splice|TPO_uc010yio.1_Splice_Site_p.R60_splice|TPO_uc010yip.1_Splice_Site_p.R60_splice	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)	ATGTGCCATAGAAACCTCAAG	0.318												
RNASEH1	246243	broad.mit.edu	37	2	3599769	3599769	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:3599769G>A	uc002qxt.2	-	3	464	c.374C>T	c.(373-375)GCG>GTG	p.A125V	RNASEH1_uc002qxs.2_Missense_Mutation_p.A8V	NM_002936	NP_002927	O60930	RNH1_HUMAN	ribonuclease H1	125					RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		AACTGGAGGCGCCGGCTCCAC	0.507												
SOX11	6664	broad.mit.edu	37	2	5833214	5833214	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:5833214C>T	uc002qyj.2	+	1	416	c.361C>T	c.(361-363)CGG>TGG	p.R121W		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	121					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GTACCGGCCCCGGAAAAAGCC	0.493												
ASAP2	8853	broad.mit.edu	37	2	9543426	9543426	+	Silent	SNP	G	G	A	rs146689258	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:9543426G>A	uc002qzh.2	+	28	3331	c.2991G>A	c.(2989-2991)CCG>CCA	p.P997P	ASAP2_uc002qzi.2_Silent_p.P952P	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	997	SH3.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						GCGCATTCCCGGTGTCATTTG	0.403												
HPCAL1	3241	broad.mit.edu	37	2	10559958	10559958	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:10559958C>T	uc002raj.2	+	3	449	c.75C>T	c.(73-75)CAC>CAT	p.H25H	HPCAL1_uc002rak.2_Silent_p.H25H|HPCAL1_uc002ral.2_Silent_p.H25H|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Silent_p.H25H	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	25	EF-hand 1.						calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		TCACCGACCACGAGCTGCAGG	0.627												
HPCAL1	3241	broad.mit.edu	37	2	10560154	10560154	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:10560154G>A	uc002raj.2	+	3	645	c.271G>A	c.(271-273)GTG>ATG	p.V91M	HPCAL1_uc002rak.2_Missense_Mutation_p.V91M|HPCAL1_uc002ral.2_Missense_Mutation_p.V91M|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.V91M	NM_002149	NP_002140	P37235	HPCL1_HUMAN	hippocalcin-like 1	91	EF-hand 2.						calcium ion binding			pancreas(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		TGCGCTGAGCGTGACCTCGCG	0.617												
KCNF1	3754	broad.mit.edu	37	2	11052983	11052983	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:11052983G>A	uc002rax.2	+	1	921	c.431G>A	c.(430-432)CGC>CAC	p.R144H		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	144	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ATCGCGCGCCGCGTGCAGCTC	0.647												
PQLC3	130814	broad.mit.edu	37	2	11300785	11300785	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:11300785C>T	uc002rbc.2	+	3	394	c.261C>T	c.(259-261)AAC>AAT	p.N87N	PQLC3_uc010yjk.1_Silent_p.N87N	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3 precursor	87						integral to membrane					0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TTCATTTTAACGGGAACGTGA	0.517												
LPIN1	23175	broad.mit.edu	37	2	11959685	11959685	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:11959685C>A	uc010yjn.1	+	19	2644	c.2370C>A	c.(2368-2370)AAC>AAA	p.N790K	LPIN1_uc010yjm.1_Missense_Mutation_p.N875K|LPIN1_uc002rbt.2_Missense_Mutation_p.N790K|LPIN1_uc010yjo.1_Missense_Mutation_p.N291K	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	790	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TTTTCCCCAACACAGAACCCT	0.378												
SMC6	79677	broad.mit.edu	37	2	17860182	17860182	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:17860182G>A	uc002rco.2	-	25	3150	c.2854C>T	c.(2854-2856)CGG>TGG	p.R952W	SMC6_uc010exo.2_Missense_Mutation_p.R952W|SMC6_uc002rcn.2_Missense_Mutation_p.R952W	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	952					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAATAGGCCCGCTGAGATAGT	0.303												
APOB	338	broad.mit.edu	37	2	21255320	21255320	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:21255320C>T	uc002red.2	-	10	1386	c.1258G>A	c.(1258-1260)GAG>AAG	p.E420K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	420	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTGAGGGCTCGGGGATCAGG	0.592												
C2orf44	80304	broad.mit.edu	37	2	24262143	24262143	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:24262143A>G	uc002rep.2	-	2	353	c.222T>C	c.(220-222)CCT>CCC	p.P74P	C2orf44_uc010eya.2_Silent_p.P74P	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	74	WD 1.						protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGTAGAACAGGTGTATCAT	0.517												
NCOA1	8648	broad.mit.edu	37	2	24980874	24980874	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:24980874C>T	uc002rfk.2	+	19	4172	c.3914C>T	c.(3913-3915)ACG>ATG	p.T1305M	NCOA1_uc010eye.2_Missense_Mutation_p.T1305M|NCOA1_uc002rfi.2_Missense_Mutation_p.T1154M|NCOA1_uc002rfj.2_Missense_Mutation_p.T1305M|NCOA1_uc002rfl.2_Missense_Mutation_p.T1305M|NCOA1_uc010eyf.2_Missense_Mutation_p.T198M	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	1305									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCAGCCCACGCCTGCACAG	0.453			T	PAX3	alveolar rhadomyosarcoma							
DNMT3A	1788	broad.mit.edu	37	2	25462049	25462049	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:25462049T>C	uc002rgc.2	-	20	2615	c.2358A>G	c.(2356-2358)TCA>TCG	p.S786S	DNMT3A_uc002rgd.2_Silent_p.S786S|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Silent_p.S597S	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	786					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGTGCAGCTGACACTTCTT	0.572			Mis|F|N|S		AML							
DNMT3A	1788	broad.mit.edu	37	2	25497874	25497874	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:25497874G>A	uc002rgc.2	-	6	832	c.575C>T	c.(574-576)GCG>GTG	p.A192V	DNMT3A_uc002rgd.2_Missense_Mutation_p.A192V|DNMT3A_uc010eyi.2_RNA	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	192					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGTCCCCCGCCTGGAAGGT	0.697			Mis|F|N|S		AML							
EMILIN1	11117	broad.mit.edu	37	2	27302084	27302084	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:27302084C>T	uc002rii.3	+	1	579	c.151C>T	c.(151-153)CGG>TGG	p.R51W	EMILIN1_uc010eyq.1_Missense_Mutation_p.R51W	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	51					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTGCCCCCCGGCCAGCCAG	0.677												
CAD	790	broad.mit.edu	37	2	27445143	27445143	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:27445143C>A	uc002rji.2	+	4	596	c.434C>A	c.(433-435)CCT>CAT	p.P145H	CAD_uc010eyw.2_Missense_Mutation_p.P145H	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	145	GATase (Glutamine amidotransferase).				'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)	GGAACAGAACCTTCATCCCTG	0.547												
GTF3C2	2976	broad.mit.edu	37	2	27558815	27558815	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:27558815C>T	uc002rjv.1	-	10	1799	c.1436G>A	c.(1435-1437)GGA>GAA	p.G479E	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Missense_Mutation_p.G490E|GTF3C2_uc002rjw.1_Missense_Mutation_p.G479E|GTF3C2_uc010eyz.1_Missense_Mutation_p.G479E|uc002rjy.1_Intron	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	479	WD 1.					transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCCATGCTCCACTGGGGCA	0.562												
GTF3C2	2976	broad.mit.edu	37	2	27565828	27565828	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:27565828C>T	uc002rjv.1	-	4	797	c.434G>A	c.(433-435)CGA>CAA	p.R145Q	GTF3C2_uc002rju.1_Missense_Mutation_p.R156Q|GTF3C2_uc002rjw.1_Missense_Mutation_p.R145Q|GTF3C2_uc010eyz.1_Missense_Mutation_p.R145Q	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	145						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGGACTTTCGACCTCGTTT	0.532												
WDR43	23160	broad.mit.edu	37	2	29117732	29117732	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:29117732G>A	uc002rmo.2	+	1	200	c.168G>A	c.(166-168)GCG>GCA	p.A56A		NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	56						nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TGCCTTCCGCGCACCTCAGTG	0.677												
BIRC6	57448	broad.mit.edu	37	2	32641161	32641161	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:32641161T>C	uc010ezu.2	+	10	2936	c.2802T>C	c.(2800-2802)ACT>ACC	p.T934T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	934					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGGAGGGCACTGAGGAACAGG	0.413												
CEBPZ	10153	broad.mit.edu	37	2	37439103	37439103	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:37439103T>C	uc002rpz.2	-	12	2713	c.2683A>G	c.(2683-2685)AAC>GAC	p.N895D		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein zeta	895					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)				TCATCCAGGTTACCAAGTTCA	0.363												
SOS1	6654	broad.mit.edu	37	2	39222340	39222340	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:39222340C>T	uc002rrk.3	-	20	3311	c.3270G>A	c.(3268-3270)CCG>CCA	p.P1090P	SOS1_uc002rrj.3_Silent_p.P704P	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1090					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				CAGAAGCAGGCGGAGGTGTTA	0.438									Noonan_syndrome			
PRKCE	5581	broad.mit.edu	37	2	46228617	46228617	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:46228617G>A	uc002rut.2	+	7	1095	c.898G>A	c.(898-900)GCC>ACC	p.A300T		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	300					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	p.A300T(1)		lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAGAGGAATCGCCAAAGTACT	0.522												
NRXN1	9378	broad.mit.edu	37	2	50149258	50149258	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:50149258A>G	uc010fbp.2	-	6	1960	c.1153T>C	c.(1153-1155)TAT>CAT	p.Y385H	NRXN1_uc002rxb.3_Missense_Mutation_p.Y1119H|NRXN1_uc010fbq.2_Missense_Mutation_p.Y1490H|NRXN1_uc002rxe.3_Missense_Mutation_p.Y1420H|NRXN1_uc010yon.1_Missense_Mutation_p.Y85H|NRXN1_uc002rxa.3_Missense_Mutation_p.Y82H	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	385	Helical; (Potential).			Y -> C (in Ref. 1; AF064842).	angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TACATGGCATAGAGGAGGATA	0.537												
CCDC88A	55704	broad.mit.edu	37	2	55561248	55561248	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:55561248C>T	uc002ryv.2	-	15	3551	c.2709G>A	c.(2707-2709)ACG>ACA	p.T903T	CCDC88A_uc010yoz.1_Silent_p.T903T|CCDC88A_uc010ypa.1_Silent_p.T903T|CCDC88A_uc010ypb.1_Silent_p.T805T|CCDC88A_uc002ryu.2_Silent_p.T186T|CCDC88A_uc002ryw.2_Silent_p.T186T	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	903	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						GTGTAACCAACGTTTTTATAT	0.279												
PAPOLG	64895	broad.mit.edu	37	2	61014116	61014116	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:61014116G>A	uc002sai.2	+	14	1432	c.1201G>A	c.(1201-1203)GTT>ATT	p.V401I	PAPOLG_uc002saj.2_Missense_Mutation_p.V90I|PAPOLG_uc002sak.2_5'UTR|PAPOLG_uc010fch.2_Missense_Mutation_p.V90I	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	401					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CCGTGTACTTGTTGGAAACTT	0.333												
SPRED2	200734	broad.mit.edu	37	2	65541259	65541259	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:65541259G>C	uc002sdr.3	-	6	1168	c.633C>G	c.(631-633)GAC>GAG	p.D211E	SPRED2_uc010fcw.2_Missense_Mutation_p.D208E	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	211	KBD.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						CGATCTCCTCGTCGTCGTCCG	0.602												
C2orf42	54980	broad.mit.edu	37	2	70408715	70408715	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:70408715G>A	uc002sgh.2	-	3	731	c.403C>T	c.(403-405)CAC>TAC	p.H135Y		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	135											0						AGCTTGATGTGCTGGCACTGG	0.577												
C2orf42	54980	broad.mit.edu	37	2	70408874	70408874	+	Silent	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:70408874G>T	uc002sgh.2	-	3	572	c.244C>A	c.(244-246)CGG>AGG	p.R82R		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	hypothetical protein LOC54980	82											0						TCAGGGCCCCGGTCTCTTTGC	0.527												
ZNF638	27332	broad.mit.edu	37	2	71576484	71576484	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:71576484C>T	uc002shx.2	+	2	719	c.400C>T	c.(400-402)CGC>TGC	p.R134C	ZNF638_uc010fec.2_Missense_Mutation_p.R240C|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.R134C|ZNF638_uc002shy.2_Missense_Mutation_p.R134C|ZNF638_uc002shz.2_Missense_Mutation_p.R134C|ZNF638_uc002sia.2_Missense_Mutation_p.R134C|ZNF638_uc002sib.1_Missense_Mutation_p.R134C	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	134					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AGTACAGAGCCGCTATACAAA	0.438												
DYSF	8291	broad.mit.edu	37	2	71892324	71892324	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:71892324G>A	uc002sie.2	+	46	5466	c.5090G>A	c.(5089-5091)CGC>CAC	p.R1697H	DYSF_uc010feg.2_Missense_Mutation_p.R1728H|DYSF_uc010feh.2_Missense_Mutation_p.R1704H|DYSF_uc002sig.3_Missense_Mutation_p.R1683H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1718H|DYSF_uc010fef.2_Missense_Mutation_p.R1735H|DYSF_uc010fei.2_Missense_Mutation_p.R1714H|DYSF_uc010fek.2_Missense_Mutation_p.R1715H|DYSF_uc010fej.2_Missense_Mutation_p.R1705H|DYSF_uc010fel.2_Missense_Mutation_p.R1684H|DYSF_uc010feo.2_Missense_Mutation_p.R1729H|DYSF_uc010fem.2_Missense_Mutation_p.R1719H|DYSF_uc010fen.2_Missense_Mutation_p.R1736H|DYSF_uc002sif.2_Missense_Mutation_p.R1698H|DYSF_uc010yqy.1_Missense_Mutation_p.R578H|DYSF_uc010yqz.1_Missense_Mutation_p.R458H	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1697	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GACCAGCTCCGCCCCTCCCAG	0.542												
DYSF	8291	broad.mit.edu	37	2	71909728	71909728	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:71909728G>A	uc002sie.2	+	54	6501	c.6125G>A	c.(6124-6126)CGT>CAT	p.R2042H	DYSF_uc010feg.2_Missense_Mutation_p.R2073H|DYSF_uc010feh.2_Missense_Mutation_p.R2049H|DYSF_uc002sig.3_Missense_Mutation_p.R2028H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R2063H|DYSF_uc010fef.2_Missense_Mutation_p.R2080H|DYSF_uc010fei.2_Missense_Mutation_p.R2059H|DYSF_uc010fek.2_Missense_Mutation_p.R2060H|DYSF_uc010fej.2_Missense_Mutation_p.R2050H|DYSF_uc010fel.2_Missense_Mutation_p.R2029H|DYSF_uc010feo.2_Missense_Mutation_p.R2074H|DYSF_uc010fem.2_Missense_Mutation_p.R2064H|DYSF_uc010fen.2_Missense_Mutation_p.R2081H|DYSF_uc002sif.2_Missense_Mutation_p.R2043H|DYSF_uc010yqy.1_Missense_Mutation_p.R923H|DYSF_uc010yqz.1_Missense_Mutation_p.R803H	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	2042	Cytoplasmic (Potential).		R -> C (in MMD1, LGMD2B and proximodistal myopathy).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CTGTGGCGGCGTTTCCGGTGG	0.522												
SMYD5	10322	broad.mit.edu	37	2	73446046	73446046	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:73446046C>T	uc002siw.2	+	2	183	c.154C>T	c.(154-156)CGG>TGG	p.R52W	SMYD5_uc010yre.1_Translation_Start_Site	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	52							metal ion binding				0						CTTCGTAGAACGGCCCCTGGT	0.542												
SMYD5	10322	broad.mit.edu	37	2	73449013	73449013	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:73449013T>C	uc002siw.2	+	6	626	c.597T>C	c.(595-597)AAT>AAC	p.N199N	SMYD5_uc010yre.1_Silent_p.N83N|SMYD5_uc002six.1_5'Flank	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	199							metal ion binding				0						AAACAGCCAATGAAGAGGAGG	0.453												
DCTN1	1639	broad.mit.edu	37	2	74593976	74593976	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:74593976C>A	uc002skx.2	-	21	2711	c.2400G>T	c.(2398-2400)AAG>AAT	p.K800N	DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.K666N|DCTN1_uc002sku.2_Missense_Mutation_p.K666N|DCTN1_uc002skw.1_Missense_Mutation_p.K776N|DCTN1_uc010ffd.2_Missense_Mutation_p.K780N|DCTN1_uc002sky.2_Missense_Mutation_p.K763N	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	800					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						GCCTTCGGATCTTCTTGCAGA	0.547												
PCGF1	84759	broad.mit.edu	37	2	74733085	74733085	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:74733085C>T	uc002slz.2	-	5	550	c.524G>A	c.(523-525)CGG>CAG	p.R175Q	LBX2_uc002slw.2_5'Flank|PCGF1_uc002sly.2_Missense_Mutation_p.R92Q	NM_032673	NP_116062	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	175					histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			ovary(1)	1						TCACCTCAGCCGCTCCAGGCA	0.592												
CAPG	822	broad.mit.edu	37	2	85628410	85628410	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:85628410C>T	uc002spl.1	-	5	644	c.394G>A	c.(394-396)GCC>ACC	p.A132T	CAPG_uc002spm.1_Missense_Mutation_p.A132T|CAPG_uc010ysq.1_Missense_Mutation_p.A132T|CAPG_uc010fgi.1_Missense_Mutation_p.A132T|CAPG_uc010fgj.1_Missense_Mutation_p.A26T	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	132					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						GCAGCTGGGGCTCCTGTGGAG	0.592												
ZAP70	7535	broad.mit.edu	37	2	98341694	98341694	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:98341694C>T	uc002syd.1	+	4	749	c.542C>T	c.(541-543)GCG>GTG	p.A181V	ZAP70_uc010yvf.1_Missense_Mutation_p.A181V|ZAP70_uc002sye.1_Missense_Mutation_p.A71V	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	181	SH2 2.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TACTCTGGGGCGCAGACCGAC	0.642												
ZAP70	7535	broad.mit.edu	37	2	98355903	98355903	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:98355903C>T	uc002syd.1	+	14	2009	c.1802C>T	c.(1801-1803)GCC>GTC	p.A601V	ZAP70_uc002sye.1_Missense_Mutation_p.A491V|ZAP70_uc002syf.1_Missense_Mutation_p.A294V	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	601					immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						TACAGCCTGGCCAGCAAGGTG	0.682												
REV1	51455	broad.mit.edu	37	2	100022487	100022487	+	Missense_Mutation	SNP	G	G	A	rs149229135		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:100022487G>A	uc002tad.2	-	17	2908	c.2696C>T	c.(2695-2697)CCG>CTG	p.P899L	REV1_uc002tac.2_Missense_Mutation_p.P898L	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	899					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						AGGACTGGTCGGCAGATGTGC	0.438								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
NCK2	8440	broad.mit.edu	37	2	106497812	106497812	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:106497812C>T	uc002tdg.2	+	4	697	c.255C>T	c.(253-255)AGC>AGT	p.S85S	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.S85S	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	85					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						GGAAGACCAGCGCGCGGGATG	0.677												
ST6GAL2	84620	broad.mit.edu	37	2	107459882	107459882	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:107459882G>A	uc002tdq.2	-	2	671	c.552C>T	c.(550-552)CAC>CAT	p.H184H	ST6GAL2_uc002tdr.2_Silent_p.H184H|ST6GAL2_uc002tds.3_Silent_p.H184H	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	184	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CCTCCAACACGTGGCTCCTTC	0.647												
EDAR	10913	broad.mit.edu	37	2	109513650	109513650	+	Missense_Mutation	SNP	C	C	T	rs121908456		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:109513650C>T	uc002teq.3	-	12	1491	c.1060G>A	c.(1060-1062)GAG>AAG	p.E354K	EDAR_uc010fjn.2_Missense_Mutation_p.E386K|EDAR_uc010yws.1_Missense_Mutation_p.E386K	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	354	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1						CTAGTCTTCTCGAGGCAATCA	0.522												
SEPT10	151011	broad.mit.edu	37	2	110310708	110310708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:110310708G>A	uc002tew.2	-	9	1496	c.1117C>T	c.(1117-1119)CGA>TGA	p.R373*	SEPT10_uc010ywu.1_Nonsense_Mutation_p.R206*|SEPT10_uc002tex.2_Nonsense_Mutation_p.R350*|SEPT10_uc002tey.2_Nonsense_Mutation_p.R373*|SEPT10_uc010ywv.1_Nonsense_Mutation_p.R239*|SEPT10_uc002tev.1_Nonsense_Mutation_p.R180*|SEPT10_uc010fjo.2_Intron	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	septin 10 isoform 1	373					cell cycle|cell division	septin complex	GTP binding				0						TCCTTTACTCGCTGCACAAAC	0.368												
ANAPC1	64682	broad.mit.edu	37	2	112539946	112539946	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:112539946C>T	uc002thi.2	-	43	5449	c.5202G>A	c.(5200-5202)AAG>AAA	p.K1734K		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1734					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				skin(2)	2						ATAATACTACCTTGAAAGCCC	0.448												
PAX8	7849	broad.mit.edu	37	2	114002179	114002179	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:114002179G>A	uc010yxt.1	-	4	380	c.214C>T	c.(214-216)CGG>TGG	p.R72W	PAX8_uc010yxu.1_Missense_Mutation_p.R72W|PAX8_uc010yxv.1_Missense_Mutation_p.R72W|PAX8_uc002tjm.2_Missense_Mutation_p.R72W|PAX8_uc002tjn.2_Missense_Mutation_p.R72W|PAX8_uc010fku.1_Missense_Mutation_p.R72W|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	72	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						ACTCCAGGCCGGATGCTGCCA	0.547			T	PPARG	follicular thyroid		Thyroid dysgenesis 					
DDX18	8886	broad.mit.edu	37	2	118579781	118579781	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:118579781G>A	uc002tlh.1	+	7	1109	c.1010G>A	c.(1009-1011)CGT>CAT	p.R337H		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	337	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4						GAAGCTGATCGTATCTTGGAT	0.363												
PTPN4	5775	broad.mit.edu	37	2	120712837	120712837	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:120712837C>T	uc002tmf.1	+	20	2689	c.1918C>T	c.(1918-1920)CGG>TGG	p.R640W	PTPN4_uc010flj.1_Missense_Mutation_p.R353W|PTPN4_uc010yyr.1_Missense_Mutation_p.R273W	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	640						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	CCATTCCCTGCGGGAGTCAAT	0.408												
ARHGEF4	50649	broad.mit.edu	37	2	131688720	131688720	+	Missense_Mutation	SNP	G	G	A	rs141778984	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:131688720G>A	uc002tsa.1	+	3	710	c.190G>A	c.(190-192)GTC>ATC	p.V64I	ARHGEF4_uc010fmw.1_Missense_Mutation_p.V710I|ARHGEF4_uc002tsb.1_Missense_Mutation_p.V64I|ARHGEF4_uc010fmx.1_Missense_Mutation_p.V64I|ARHGEF4_uc002trz.1_Missense_Mutation_p.V710I	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	64					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCGCTCGCCCGTCAGTGTGGA	0.592												
ARHGEF4	50649	broad.mit.edu	37	2	131785563	131785563	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:131785563T>C	uc002tsa.1	+	5	993	c.473T>C	c.(472-474)GTG>GCG	p.V158A	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.V158A|ARHGEF4_uc010fmx.1_Missense_Mutation_p.V158A	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	158					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCTGACGAAGTGGGGAGCGAG	0.632												
SPOPL	339745	broad.mit.edu	37	2	139318420	139318420	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:139318420A>G	uc002tvh.2	+	8	1160	c.760A>G	c.(760-762)ATG>GTG	p.M254V		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	254	BTB.					nucleus				skin(2)|breast(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TTTTAAAGAAATGATGAGATT	0.333												
LRP1B	53353	broad.mit.edu	37	2	141806629	141806629	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:141806629A>G	uc002tvj.1	-	11	2687	c.1715T>C	c.(1714-1716)TTT>TCT	p.F572S	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	572	Extracellular (Potential).|LDL-receptor class B 5.				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)		GGTGTCAGCAAAGTAGATGTA	0.423										TSP Lung(27;0.18)		
NEB	4703	broad.mit.edu	37	2	152404183	152404183	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:152404183G>A	uc010fnx.2	-	104	15315	c.15124C>T	c.(15124-15126)CGC>TGC	p.R5042C	NEB_uc002txr.2_Missense_Mutation_p.R1465C	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5042	Nebulin 138.				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)		TTGACTTGGCGGATCTCAGGG	0.443												
NEB	4703	broad.mit.edu	37	2	152468797	152468797	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:152468797C>A	uc010fnx.2	-	74	11170	c.10979G>T	c.(10978-10980)AGG>ATG	p.R3660M		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3660	Nebulin 100.				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)		GCGATACTTCCTGTCACTCAG	0.483												
GPD2	2820	broad.mit.edu	37	2	157407127	157407127	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:157407127C>T	uc002tzf.3	+	8	1200	c.840C>T	c.(838-840)GAC>GAT	p.D280D	GPD2_uc010zch.1_Silent_p.D53D|GPD2_uc002tzd.3_Silent_p.D280D|GPD2_uc002tze.1_RNA	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	280					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1						AGGAATTTGACGTGAGAGCCA	0.438												
PLA2R1	22925	broad.mit.edu	37	2	160803953	160803953	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:160803953G>A	uc002ube.1	-	26	4034	c.3827C>T	c.(3826-3828)GCT>GTT	p.A1276V	PLA2R1_uc010zcp.1_Missense_Mutation_p.A1276V|PLA2R1_uc002ubf.2_Missense_Mutation_p.A1276V	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	1276	Extracellular (Potential).|C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3						AAATTCATGAGCAGCCTCAAA	0.353												
SCN2A	6326	broad.mit.edu	37	2	166170516	166170516	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:166170516C>A	uc002udc.2	+	10	1571	c.1281C>A	c.(1279-1281)GCC>GCA	p.A427A	SCN2A_uc002udd.2_Silent_p.A427A|SCN2A_uc002ude.2_Silent_p.A427A	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	427	Helical; Name=S6 of repeat I; (Potential).|I.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TGGCCATGGCCTATGAGGAAC	0.433												
SCN9A	6335	broad.mit.edu	37	2	167055471	167055471	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:167055471G>A	uc010fpl.2	-	27	5986	c.5645C>T	c.(5644-5646)GCT>GTT	p.A1882V	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1893	IQ.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	AATGACAGTAGCAGACACATC	0.388												
SCN9A	6335	broad.mit.edu	37	2	167141099	167141099	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:167141099G>A	uc010fpl.2	-	12	2179	c.1838C>T	c.(1837-1839)CCG>CTG	p.P613L	uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.P484L|SCN9A_uc002uds.1_Missense_Mutation_p.P484L|SCN9A_uc002udt.1_Missense_Mutation_p.P484L	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	613						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCCGTTCACCGGCAGCATTGG	0.587												
XIRP2	129446	broad.mit.edu	37	2	168102819	168102819	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:168102819A>G	uc002udx.2	+	8	4935	c.4917A>G	c.(4915-4917)CAA>CAG	p.Q1639Q	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.Q1464Q|XIRP2_uc010fpq.2_Silent_p.Q1417Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1464					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CTAAAACTCAATTATTAAACA	0.328												
LRP2	4036	broad.mit.edu	37	2	170135890	170135890	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:170135890T>C	uc002ues.2	-	12	1770	c.1557A>G	c.(1555-1557)CCA>CCG	p.P519P	LRP2_uc010zdf.1_Silent_p.P519P	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	519	LDL-receptor class B 2.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACCCAACAGTTGGGTCCACGG	0.408												
MYO3B	140469	broad.mit.edu	37	2	171258106	171258106	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:171258106C>T	uc002ufy.2	+	18	2177	c.2034C>T	c.(2032-2034)GAC>GAT	p.D678D	MYO3B_uc002ufv.2_Silent_p.D665D|MYO3B_uc010fqb.1_Silent_p.D665D|MYO3B_uc002ufz.2_Silent_p.D678D|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	myosin IIIB isoform 2	678	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						GGGCTGCGGACGTTCGAGACG	0.567												
TTN	7273	broad.mit.edu	37	2	179401955	179401955	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:179401955G>A	uc010zfg.1	-	305	92401	c.92177C>T	c.(92176-92178)CCT>CTT	p.P30726L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P24421L|TTN_uc010zfi.1_Missense_Mutation_p.P24354L|TTN_uc010zfj.1_Missense_Mutation_p.P24229L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31653							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)			TGGTCCTGTAGGTTTGTCTGG	0.403												
TTN	7273	broad.mit.edu	37	2	179427287	179427287	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:179427287C>T	uc010zfg.1	-	275	76092	c.75868G>A	c.(75868-75870)GTT>ATT	p.V25290I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V18985I|TTN_uc010zfi.1_Missense_Mutation_p.V18918I|TTN_uc010zfj.1_Missense_Mutation_p.V18793I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26217							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)			GACACTTTAACGGGTTCTGTT	0.428												
TTN	7273	broad.mit.edu	37	2	179453422	179453422	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:179453422C>A	uc010zfg.1	-	253	55550	c.55326G>T	c.(55324-55326)TGG>TGT	p.W18442C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W12137C|TTN_uc010zfi.1_Missense_Mutation_p.W12070C|TTN_uc010zfj.1_Missense_Mutation_p.W11945C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19369							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)			TGACAGGGACCCATCGTGTTG	0.418												
TTN	7273	broad.mit.edu	37	2	179501176	179501176	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:179501176A>G	uc010zfg.1	-	174	33798	c.33574T>C	c.(33574-33576)TTA>CTA	p.L11192L	TTN_uc010zfh.1_Silent_p.L4887L|TTN_uc010zfi.1_Silent_p.L4820L|TTN_uc010zfj.1_Silent_p.L4695L|TTN_uc010fre.1_Silent_p.L1053L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12119							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)			CCCAAACGTAAAACACAGGTG	0.383												
ZSWIM2	151112	broad.mit.edu	37	2	187698689	187698689	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:187698689G>A	uc002upu.1	-	6	852	c.812C>T	c.(811-813)ACG>ATG	p.T271M		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	271	ZZ-type.				apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AAATGTAAACGTGTGGGAAAG	0.363												
COL5A2	1290	broad.mit.edu	37	2	189899729	189899729	+	Silent	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:189899729A>C	uc002uqk.2	-	53	4541	c.4266T>G	c.(4264-4266)GCT>GCG	p.A1422A	COL5A2_uc010frx.2_Silent_p.A998A	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1422	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGAGAACCACAGCTTTTTTGA	0.383												
SATB2	23314	broad.mit.edu	37	2	200213631	200213631	+	Silent	SNP	G	G	A	rs139350909	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:200213631G>A	uc002uuy.1	-	7	1783	c.966C>T	c.(964-966)GCC>GCT	p.A322A	SATB2_uc010fsq.1_Silent_p.A204A|SATB2_uc002uuz.1_Silent_p.A322A|SATB2_uc002uva.1_Silent_p.A322A|SATB2_uc002uvb.1_Silent_p.A65A	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	322						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCCGGCTAACGGCAATCTGTT	0.527												
C2orf60	129450	broad.mit.edu	37	2	200801175	200801175	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:200801175C>T	uc002uvi.3	-	6	793	c.527G>A	c.(526-528)CGT>CAT	p.R176H	C2orf60_uc002uvj.3_Missense_Mutation_p.R13H|C2orf60_uc002uvk.3_Intron|C2orf60_uc010fss.2_Missense_Mutation_p.R13H	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450	176	JmjC.				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding				0						GAGTACAACACGCTTTTTTCC	0.289												
ALS2CR11	151254	broad.mit.edu	37	2	202438988	202438988	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:202438988G>A	uc002uye.2	-	7	745	c.697C>T	c.(697-699)CTG>TTG	p.L233L	ALS2CR11_uc002uyf.2_Silent_p.L233L|ALS2CR11_uc010fti.2_Silent_p.L233L	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	233										large_intestine(1)|ovary(1)|skin(1)	3						TCCACCTCCAGCCTGCAGACA	0.328												
ABI2	10152	broad.mit.edu	37	2	204281776	204281776	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:204281776G>A	uc002vaa.2	+	10	1573	c.1338G>A	c.(1336-1338)CCG>CCA	p.P446P	ABI2_uc002uzz.2_Silent_p.P408P|ABI2_uc010zih.1_Silent_p.P94P|ABI2_uc010zii.1_Silent_p.P440P|ABI2_uc010zij.1_Silent_p.P323P|ABI2_uc002vab.2_Silent_p.P334P|ABI2_uc010zik.1_Silent_p.P171P|ABI2_uc010zil.1_Silent_p.P310P|ABI2_uc010zim.1_Silent_p.P259P|ABI2_uc002vac.2_Silent_p.P232P|ABI2_uc010zin.1_Silent_p.P123P	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	446					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						AGGACCCACCGTGGGCTCCAC	0.468												
ABI2	10152	broad.mit.edu	37	2	204281787	204281787	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:204281787G>A	uc002vaa.2	+	10	1584	c.1349G>A	c.(1348-1350)CGT>CAT	p.R450H	ABI2_uc002uzz.2_Missense_Mutation_p.R412H|ABI2_uc010zih.1_Missense_Mutation_p.R98H|ABI2_uc010zii.1_Missense_Mutation_p.R444H|ABI2_uc010zij.1_Missense_Mutation_p.R327H|ABI2_uc002vab.2_Missense_Mutation_p.R338H|ABI2_uc010zik.1_Missense_Mutation_p.R175H|ABI2_uc010zil.1_Missense_Mutation_p.R314H|ABI2_uc010zim.1_Missense_Mutation_p.R263H|ABI2_uc002vac.2_Missense_Mutation_p.R236H|ABI2_uc010zin.1_Missense_Mutation_p.R127H	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	450					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						TGGGCTCCACGTTCTTACTTG	0.458												
CPO	130749	broad.mit.edu	37	2	207827304	207827304	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:207827304A>G	uc002vby.2	+	7	789	c.743A>G	c.(742-744)TAC>TGC	p.Y248C		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	248					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CCTTACGGCTACACCAAAAAT	0.438												
MAP2	4133	broad.mit.edu	37	2	210561275	210561275	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:210561275G>T	uc002vde.1	+	8	4438	c.4190G>T	c.(4189-4191)AGG>ATG	p.R1397M	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R1393M	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1397					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GATGATGATAGGAGCATCATG	0.343												
MREG	55686	broad.mit.edu	37	2	216809715	216809715	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:216809715A>G	uc002vfo.2	-	5	812	c.516T>C	c.(514-516)CGT>CGC	p.R172R	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	172						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		GTGCAATGAGACGGTCCTGCA	0.463												
TNS1	7145	broad.mit.edu	37	2	218751288	218751288	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:218751288C>T	uc002vgt.2	-	11	971	c.573G>A	c.(571-573)ATG>ATA	p.M191I	TNS1_uc002vgr.2_Missense_Mutation_p.M191I|TNS1_uc002vgs.2_Missense_Mutation_p.M191I|TNS1_uc010zjv.1_Missense_Mutation_p.M191I|TNS1_uc010fvj.1_Missense_Mutation_p.M259I|TNS1_uc010fvk.1_Missense_Mutation_p.M316I|TNS1_uc002vgu.3_Missense_Mutation_p.M222I|TNS1_uc010fvi.1_5'Flank	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	191	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGATGCCGTGCATGATCACGT	0.522											OREG0015188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TTLL4	9654	broad.mit.edu	37	2	219612393	219612393	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:219612393G>A	uc002viy.2	+	11	2693	c.2323G>A	c.(2323-2325)GAT>AAT	p.D775N	TTLL4_uc010zkl.1_Missense_Mutation_p.D610N|TTLL4_uc010fvx.2_Missense_Mutation_p.D711N|TTLL4_uc010zkm.1_5'UTR	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	775	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CACTTCCTACGATCCTCTGCG	0.468												
CCDC108	255101	broad.mit.edu	37	2	219883864	219883864	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:219883864G>T	uc002vjl.1	-	21	3595	c.3511C>A	c.(3511-3513)CTT>ATT	p.L1171I	CCDC108_uc002vjm.3_Missense_Mutation_p.L56I	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1171						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)		TTGAAGTCAAGCCTTAAAGGG	0.607												
PTPRN	5798	broad.mit.edu	37	2	220164709	220164709	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:220164709C>A	uc002vkz.2	-	9	1523	c.1434G>T	c.(1432-1434)CAG>CAT	p.Q478H	PTPRN_uc010zlc.1_Missense_Mutation_p.Q388H|PTPRN_uc002vla.2_Missense_Mutation_p.Q478H	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	478	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCCCTTACTTCTGATCAGTGA	0.592												
STK11IP	114790	broad.mit.edu	37	2	220471821	220471821	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:220471821C>T	uc002vml.2	+	13	1257	c.1214C>T	c.(1213-1215)ACG>ATG	p.T405M	STK11IP_uc010zll.1_Missense_Mutation_p.T362M|STK11IP_uc002vmm.1_Missense_Mutation_p.T394M	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	405					protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGTGATACGGACCCGGAG	0.572												
SERPINE2	5270	broad.mit.edu	37	2	224866409	224866409	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:224866409T>C	uc002vnu.2	-	2	452	c.209A>G	c.(208-210)GAC>GGC	p.D70G	SERPINE2_uc002vnt.2_Missense_Mutation_p.D70G|SERPINE2_uc010zlr.1_Missense_Mutation_p.D82G|SERPINE2_uc002vnv.2_Missense_Mutation_p.D70G	NM_006216	NP_006207	P07093	GDN_HUMAN	plasminogen activator inhibitor type 1, member 2	70					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|ovary(1)|central_nervous_system(1)	4		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GGTCCTGCCGTCCGCCCCCAG	0.557												
COL4A4	1286	broad.mit.edu	37	2	227922236	227922236	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:227922236C>A	uc010zlt.1	-	29	3118	c.2464G>T	c.(2464-2466)GGT>TGT	p.G822C		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	822	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAGGTGGACCTGGGACACCT	0.552												
COL4A3	1285	broad.mit.edu	37	2	228162445	228162445	+	Silent	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:228162445G>T	uc002vom.1	+	42	3783	c.3621G>T	c.(3619-3621)GGG>GGT	p.G1207G	COL4A3_uc002von.1_Silent_p.G1207G|COL4A3_uc002voo.1_Silent_p.G1207G|COL4A3_uc002vop.1_Silent_p.G1207G|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1207	Triple-helical region.		G -> E (in APSAR; in isolated microhematuria at heterozygosity).		activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GCAGAAAAGGGGCCATGGGAG	0.557												
TRIP12	9320	broad.mit.edu	37	2	230664071	230664071	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:230664071G>A	uc002vpw.1	-	21	3119	c.3010C>T	c.(3010-3012)CGA>TGA	p.R1004*	TRIP12_uc002vpx.1_Nonsense_Mutation_p.R1052*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.R734*|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1004					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTGGCAGTCGTTTTCTCTTT	0.398												
CAB39	51719	broad.mit.edu	37	2	231657993	231657993	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:231657993T>C	uc002vqx.2	+	4	777	c.345T>C	c.(343-345)CCT>CCC	p.P115P	CAB39_uc010fxr.2_Silent_p.P115P|CAB39_uc010fxq.2_Silent_p.P115P	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN	calcium binding protein 39	115					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)	1		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CGAGAACTCCTACTGTTGAAT	0.323												
ITM2C	81618	broad.mit.edu	37	2	231742260	231742260	+	Missense_Mutation	SNP	G	G	A	rs150758684		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:231742260G>A	uc002vqz.2	+	5	827	c.707G>A	c.(706-708)CGG>CAG	p.R236Q	ITM2C_uc002vra.2_Missense_Mutation_p.R189Q|ITM2C_uc002vrb.2_Missense_Mutation_p.R199Q|ITM2C_uc002vrc.2_Missense_Mutation_p.R125Q|ITM2C_uc002vrd.2_Missense_Mutation_p.R88Q	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C isoform 1	236					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding				0		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGGCAACGCGGAGGCGTGAG	0.627												
DIS3L2	129563	broad.mit.edu	37	2	232952237	232952237	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:232952237C>T	uc010fxz.2	+	6	683	c.407C>T	c.(406-408)GCG>GTG	p.A136V	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vsn.1_Missense_Mutation_p.A136V|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	136							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ACAGAAGCTGCGTATGAATCA	0.418												
USP40	55230	broad.mit.edu	37	2	234463061	234463061	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:234463061A>G	uc010zmu.1	-	6	776	c.658T>C	c.(658-660)TGT>CGT	p.C220R	USP40_uc010zmr.1_Missense_Mutation_p.C232R			Q9NVE5	UBP40_HUMAN	SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15);	220					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)|breast(1)	3		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CAAGTTCCACAGTGGTACAAG	0.408												
SH3BP4	23677	broad.mit.edu	37	2	235951624	235951624	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:235951624C>A	uc002vvp.2	+	4	2604	c.2211C>A	c.(2209-2211)ACC>ACA	p.T737T	SH3BP4_uc010fym.2_Silent_p.T737T|SH3BP4_uc002vvq.2_Silent_p.T737T	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	737					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGCTGAGCACCTCGGTGCTGC	0.652												
COL6A3	1293	broad.mit.edu	37	2	238303252	238303252	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:238303252C>T	uc002vwl.2	-	3	972	c.687G>A	c.(685-687)ACG>ACA	p.T229T	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Silent_p.T229T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	229	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TAAGGGTTTCCGTGTCCCCAG	0.488												
LRRFIP1	9208	broad.mit.edu	37	2	238672661	238672661	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:238672661C>A	uc002vxe.2	+	11	2597	c.2305C>A	c.(2305-2307)CTA>ATA	p.L769I	LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Missense_Mutation_p.L745I|LRRFIP1_uc002vxf.2_Missense_Mutation_p.L713I	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting	769					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			breast(3)	3		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CAGCAATAGCCTAGAGAACGA	0.483												
RBM44	375316	broad.mit.edu	37	2	238727159	238727159	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:238727159A>G	uc002vxi.3	+	3	1732	c.1600A>G	c.(1600-1602)ACA>GCA	p.T534A		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	533							nucleotide binding|RNA binding			ovary(4)	4		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TTGTATAGATACACAGATGGC	0.318												
ESPNL	339768	broad.mit.edu	37	2	239010707	239010707	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:239010707G>A	uc002vxq.3	+	2	530	c.420G>A	c.(418-420)CCG>CCA	p.P140P		NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	140	ANK 5.									pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GAGCCCGGCCGCTGCACCACG	0.706												
ESPNL	339768	broad.mit.edu	37	2	239013340	239013340	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:239013340C>A	uc002vxq.3	+	3	639	c.529C>A	c.(529-531)CTG>ATG	p.L177M		NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	177	ANK 6.									pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCCACTCTACCTGGCCTGCCA	0.667												
ANKMY1	51281	broad.mit.edu	37	2	241452261	241452261	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:241452261G>A	uc002vyz.1	-	9	2065	c.1836C>T	c.(1834-1836)GAC>GAT	p.D612D	ANKMY1_uc002vza.1_Silent_p.D471D|ANKMY1_uc010fzd.1_Silent_p.D701D|ANKMY1_uc002vzb.1_Silent_p.D373D|ANKMY1_uc002vzc.1_Silent_p.D471D|ANKMY1_uc002vzd.1_Silent_p.D471D	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	612	ANK 4.						zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ATGCCTTGGCGTCCACATCGG	0.622												
ANKMY1	51281	broad.mit.edu	37	2	241463559	241463559	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:241463559C>T	uc002vyz.1	-	7	1537	c.1308G>A	c.(1306-1308)CCG>CCA	p.P436P	ANKMY1_uc002vza.1_Silent_p.P295P|ANKMY1_uc010fzd.1_Silent_p.P525P|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Silent_p.P295P|ANKMY1_uc002vzd.1_Silent_p.P295P|ANKMY1_uc010fze.1_Silent_p.P105P|ANKMY1_uc002vze.2_Silent_p.P197P	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	436							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CCTTCACCAACGGGGAGTCCC	0.622												
PASK	23178	broad.mit.edu	37	2	242066640	242066640	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:242066640T>G	uc002wao.1	-	10	1782	c.1690A>C	c.(1690-1692)ATG>CTG	p.M564L	PASK_uc010zol.1_Missense_Mutation_p.M378L|PASK_uc010zom.1_Missense_Mutation_p.M529L|PASK_uc010fzl.1_Missense_Mutation_p.M564L|PASK_uc010zon.1_Missense_Mutation_p.M345L|PASK_uc002wap.2_Missense_Mutation_p.M107L|PASK_uc002waq.2_Missense_Mutation_p.M564L	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	564					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)		AGGCCACACATGCCAGCATCA	0.607												
TRIB3	57761	broad.mit.edu	37	20	368830	368830	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:368830C>T	uc002wdm.2	+	2	682	c.176C>T	c.(175-177)GCA>GTA	p.A59V	TRIB3_uc002wdn.2_Missense_Mutation_p.A86V	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	59					apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CCAGATCGTGCAACTGCTGTG	0.677												
TRIB3	57761	broad.mit.edu	37	20	376933	376933	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:376933G>A	uc002wdm.2	+	4	1182	c.676G>A	c.(676-678)GTG>ATG	p.V226M	TRIB3_uc002wdn.2_Missense_Mutation_p.V253M	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	226	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CCCAGCCTACGTGGGACCTGA	0.627												
NSFL1C	55968	broad.mit.edu	37	20	1426359	1426359	+	Missense_Mutation	SNP	C	C	T	rs6105156		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:1426359C>T	uc002wfc.2	-	8	1850	c.902G>A	c.(901-903)CGG>CAG	p.R301Q	NSFL1C_uc002wfd.2_Missense_Mutation_p.R190Q|NSFL1C_uc002wfe.2_Missense_Mutation_p.R270Q|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Missense_Mutation_p.R67Q	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	301	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding				0						GTCTGCAAGCCGAATTTGGAT	0.512												
TGM3	7053	broad.mit.edu	37	20	2290323	2290323	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:2290323A>G	uc002wfx.3	+	2	125	c.28A>G	c.(28-30)AAC>GAC	p.N10D		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	10					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	CCAGAGTATCAACTGGCAGAC	0.527												
SIGLEC1	6614	broad.mit.edu	37	20	3678732	3678732	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:3678732G>T	uc002wja.2	-	8	1835	c.1835C>A	c.(1834-1836)GCT>GAT	p.A612D	SIGLEC1_uc002wiz.3_Missense_Mutation_p.A612D	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	612	Ig-like C2-type 6.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						CCCGGCCCCAGCGGCATCAAG	0.662												
TMX4	56255	broad.mit.edu	37	20	7964446	7964446	+	Missense_Mutation	SNP	C	C	T	rs113450175		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:7964446C>T	uc002wmx.1	-	7	807	c.674G>A	c.(673-675)CGT>CAT	p.R225H		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	225	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane					0						CTTACCAGAACGCTCAGATAA	0.383												
MKKS	8195	broad.mit.edu	37	20	10394116	10394116	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:10394116G>T	uc002wnt.1	-	3	934	c.47C>A	c.(46-48)CCA>CAA	p.P16Q	MKKS_uc002wnu.1_Missense_Mutation_p.P16Q|MKKS_uc010zrd.1_Intron	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome protein	16					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding				0						AGTTGTCAGTGGTTCACTCTT	0.428									Bardet-Biedl_syndrome			
BTBD3	22903	broad.mit.edu	37	20	11903503	11903503	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:11903503A>G	uc002wnz.2	+	4	1117	c.758A>G	c.(757-759)GAG>GGG	p.E253G	BTBD3_uc002wny.2_Missense_Mutation_p.E192G|BTBD3_uc002woa.2_Missense_Mutation_p.E192G|BTBD3_uc010zrf.1_Missense_Mutation_p.E102G|BTBD3_uc010zrg.1_Missense_Mutation_p.E102G|BTBD3_uc010zrh.1_Missense_Mutation_p.E102G	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	253										ovary(2)|central_nervous_system(1)	3						GCCCAGGCTGAGTTAGCTCTC	0.507												
BTBD3	22903	broad.mit.edu	37	20	11903867	11903867	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:11903867C>T	uc002wnz.2	+	4	1481	c.1122C>T	c.(1120-1122)CGC>CGT	p.R374R	BTBD3_uc002wny.2_Silent_p.R313R|BTBD3_uc002woa.2_Silent_p.R313R|BTBD3_uc010zrf.1_Silent_p.R223R|BTBD3_uc010zrg.1_Silent_p.R223R|BTBD3_uc010zrh.1_Silent_p.R223R	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN	BTB/POZ domain containing protein 3 isoform a	374										ovary(2)|central_nervous_system(1)	3						TCCCCCAGCGCTGTCACCGTT	0.507												
KIF16B	55614	broad.mit.edu	37	20	16316624	16316624	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:16316624G>A	uc002wpg.1	-	24	3816	c.3658C>T	c.(3658-3660)CGT>TGT	p.R1220C	KIF16B_uc002wpe.1_Intron|KIF16B_uc002wpf.1_Missense_Mutation_p.R561C|KIF16B_uc010gch.1_Missense_Mutation_p.R1169C	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	1220	PX.			R->A: Abolishes PtdIns(3)P-binding.	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						CGACTGTAACGCCTGAATACA	0.303												
KIF16B	55614	broad.mit.edu	37	20	16488710	16488710	+	Missense_Mutation	SNP	C	C	T	rs144734414	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:16488710C>T	uc002wpg.1	-	7	750	c.592G>A	c.(592-594)GTA>ATA	p.V198I	KIF16B_uc010gch.1_Missense_Mutation_p.V198I|KIF16B_uc010gci.1_Missense_Mutation_p.V198I|KIF16B_uc010gcj.1_Missense_Mutation_p.V198I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	198	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						AGTTCTTCTACGTCACCATAA	0.413												
ZNF133	7692	broad.mit.edu	37	20	18286334	18286334	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:18286334G>A	uc010gcq.2	+	3	309	c.4G>A	c.(4-6)GCA>ACA	p.A2T	ZNF133_uc010zrv.1_Missense_Mutation_p.A5T|ZNF133_uc010zrw.1_5'UTR|ZNF133_uc010gcr.2_Missense_Mutation_p.A2T|ZNF133_uc010zrx.1_Intron|ZNF133_uc002wql.3_Missense_Mutation_p.A2T|ZNF133_uc010gcs.2_Missense_Mutation_p.A2T|ZNF133_uc010zry.1_Intron|ZNF133_uc002wqm.2_Missense_Mutation_p.A2T	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	2	KRAB.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						GGCACACATGGCATTCAGGGA	0.577												
ZNF133	7692	broad.mit.edu	37	20	18297297	18297297	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:18297297C>T	uc010gcq.2	+	5	2107	c.1802C>T	c.(1801-1803)ACG>ATG	p.T601M	ZNF133_uc010zrv.1_Missense_Mutation_p.T604M|ZNF133_uc010zrw.1_Missense_Mutation_p.T538M|ZNF133_uc010gcr.2_Missense_Mutation_p.T601M|ZNF133_uc010zrx.1_Missense_Mutation_p.T506M|ZNF133_uc002wql.3_Missense_Mutation_p.T600M|ZNF133_uc010gcs.2_Missense_Mutation_p.T600M|ZNF133_uc010zry.1_Missense_Mutation_p.T506M|ZNF133_uc002wqm.2_Missense_Mutation_p.T601M	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	601						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						ATGACACATACGGGGGAGAAG	0.547												
NINL	22981	broad.mit.edu	37	20	25493544	25493544	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:25493544G>A	uc002wux.1	-	4	450	c.376C>T	c.(376-378)CGC>TGC	p.R126C	NINL_uc010gdn.1_Missense_Mutation_p.R126C|NINL_uc010gdo.1_Translation_Start_Site|NINL_uc010ztf.1_Missense_Mutation_p.R142C	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	126					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						TCCGGCACGCGTCTGGCTTCT	0.622												
REM1	28954	broad.mit.edu	37	20	30065686	30065686	+	Silent	SNP	C	C	T	rs147559982		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:30065686C>T	uc002wwa.2	+	3	680	c.396C>T	c.(394-396)GTC>GTT	p.V132V		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	132					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACTGGTGGTCGTGGACACCT	0.572												
PLAGL2	5326	broad.mit.edu	37	20	30784844	30784844	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:30784844T>C	uc002wxn.2	-	3	1119	c.902A>G	c.(901-903)CAC>CGC	p.H301R		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	301						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGTAGGGATGTGGGCACCATA	0.602												
PLAGL2	5326	broad.mit.edu	37	20	30785099	30785099	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:30785099C>T	uc002wxn.2	-	3	864	c.647G>A	c.(646-648)CGT>CAT	p.R216H		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	216						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAAGTCCTTACGGCCTGTGTG	0.597												
PXMP4	11264	broad.mit.edu	37	20	32302516	32302516	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:32302516T>C	uc002wzv.2	-	2	263	c.140A>G	c.(139-141)CAC>CGC	p.H47R	PXMP4_uc002wzw.2_Missense_Mutation_p.H47R|PXMP4_uc010zuh.1_Missense_Mutation_p.H47R	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4 isoform a	47						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity				0						GACCAGCGCGTGAGGGGCCCG	0.502												
AHCY	191	broad.mit.edu	37	20	32880296	32880296	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:32880296C>T	uc002xai.2	-	4	452	c.313G>A	c.(313-315)GAA>AAA	p.E105K	AHCY_uc002xaj.2_Missense_Mutation_p.E77K	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	105					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						TCGTCCGTTTCGCCCTTCCAG	0.582												
NCOA6	23054	broad.mit.edu	37	20	33330707	33330707	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:33330707G>A	uc002xav.2	-	12	5924	c.3353C>T	c.(3352-3354)CCG>CTG	p.P1118L	NCOA6_uc002xaw.2_Missense_Mutation_p.P1118L	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1118	NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						AGGATTCTGCGGGCTCTCCTG	0.542												
NCOA6	23054	broad.mit.edu	37	20	33345538	33345538	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:33345538A>G	uc002xav.2	-	8	3584	c.1013T>C	c.(1012-1014)ATG>ACG	p.M338T	NCOA6_uc002xaw.2_Missense_Mutation_p.M338T|NCOA6_uc010gew.1_Missense_Mutation_p.M295T	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	338	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						GTTTGCAGTCATTGTGCCCAG	0.592												
MYH7B	57644	broad.mit.edu	37	20	33576026	33576026	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:33576026C>T	uc002xbi.1	+	17	1766	c.1674C>T	c.(1672-1674)TTC>TTT	p.F558F	MIR499_hsa-mir-499|MI0003183_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	516	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCATCGACTTCGGCCTTGACC	0.562												
TGM2	7052	broad.mit.edu	37	20	36770586	36770586	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:36770586C>T	uc002xhr.2	-	7	975	c.875G>A	c.(874-876)GGC>GAC	p.G292D	TGM2_uc010zvx.1_Missense_Mutation_p.G211D|TGM2_uc010zvy.1_Missense_Mutation_p.G232D|TGM2_uc002xhs.1_Missense_Mutation_p.G268D|TGM2_uc002xht.2_Missense_Mutation_p.G292D	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	292					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GGTAGGGATGCCCAGGCACCT	0.597												
SLC32A1	140679	broad.mit.edu	37	20	37353383	37353383	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:37353383C>T	uc002xjc.2	+	1	279	c.16C>T	c.(16-18)CGC>TGC	p.R6C		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	6	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CACCTTGCTCCGCAGCAAGCT	0.647												
PLCG1	5335	broad.mit.edu	37	20	39788754	39788754	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:39788754G>A	uc002xjp.1	+	4	594	c.473G>A	c.(472-474)CGG>CAG	p.R158Q	PLCG1_uc002xjo.1_Missense_Mutation_p.R158Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	158	EF-hand.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				AGGTGGCTCCGGAAGCAGTTT	0.577												
SFRS6	6431	broad.mit.edu	37	20	42088688	42088688	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:42088688G>T	uc010zwg.1	+	4	567	c.397G>T	c.(397-399)GCA>TCA	p.A133S	SFRS6_uc002xki.2_Missense_Mutation_p.A4S|SFRS6_uc002xkk.2_Missense_Mutation_p.A133S	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	133	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TATGCGACAAGCAGGTGAAGT	0.393												
PABPC1L	80336	broad.mit.edu	37	20	43552846	43552846	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:43552846C>T	uc010ggv.1	+	7	1003	c.921C>T	c.(919-921)GAC>GAT	p.D307D	PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	307	RRM 4.						nucleotide binding|RNA binding			ovary(1)	1						CCATTGATGACGACAAACTGA	0.547												
MATN4	8785	broad.mit.edu	37	20	43927168	43927168	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:43927168C>T	uc002xnn.2	-	7	1255	c.1068G>A	c.(1066-1068)GTG>GTA	p.V356V	MATN4_uc002xno.2_Silent_p.V315V|MATN4_uc002xnp.2_Silent_p.V274V|MATN4_uc010zwr.1_Silent_p.V304V|MATN4_uc002xnr.1_Silent_p.V356V	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	397	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				TTTGTGGACGCACGCTCTTGG	0.572												
SPINLW1	57119	broad.mit.edu	37	20	44171452	44171452	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:44171452C>A	uc002xou.2	-	3	310	c.278G>T	c.(277-279)TGG>TTG	p.W93L	SPINLW1_uc010zxc.1_Missense_Mutation_p.W93L|SPINLW1_uc002xot.2_Missense_Mutation_p.W77L|SPINLW1_uc002xov.1_3'UTR	NM_020398	NP_065131	O95925	EPPI_HUMAN	serine peptidase inhibitor-like, with Kunitz and	93	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)				GTCATACCACCAATGAAGAAA	0.458												
ZSWIM3	140831	broad.mit.edu	37	20	44506623	44506623	+	Missense_Mutation	SNP	G	G	A	rs139419541	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:44506623G>A	uc002xqd.2	+	2	1629	c.1426G>A	c.(1426-1428)GCA>ACA	p.A476T	ZSWIM3_uc010zxg.1_Missense_Mutation_p.A470T	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	476							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				CAAGCCAGACGCACAGCAGGT	0.577												
ZNF335	63925	broad.mit.edu	37	20	44589289	44589289	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:44589289G>A	uc002xqw.2	-	12	1871	c.1748C>T	c.(1747-1749)ACG>ATG	p.T583M	ZNF335_uc010zxk.1_Missense_Mutation_p.T428M	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	583	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				AGTGCTGTGCGTCTTCATGTG	0.592												
SULF2	55959	broad.mit.edu	37	20	46318966	46318966	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:46318966C>A	uc002xto.2	-	5	971	c.641G>T	c.(640-642)AGG>ATG	p.R214M	SULF2_uc002xtr.2_Missense_Mutation_p.R214M|SULF2_uc002xtq.2_Missense_Mutation_p.R214M|SULF2_uc010ghv.1_Missense_Mutation_p.R214M	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	214					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						GAGGACTGGCCTGTGCGGGTA	0.567												
DDX27	55661	broad.mit.edu	37	20	47858673	47858673	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:47858673G>A	uc002xuh.2	+	18	2200	c.2139G>A	c.(2137-2139)CGG>CGA	p.R713R		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	713						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGCTGAACGGCTAGCGAAGA	0.587												
MOCS3	27304	broad.mit.edu	37	20	49576279	49576279	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:49576279C>T	uc002xvy.1	+	1	917	c.900C>T	c.(898-900)TGC>TGT	p.C300C	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	300		Zinc (By similarity).			enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						GTGCAGCTTGCGGGGAACGGC	0.592												
ATP9A	10079	broad.mit.edu	37	20	50287727	50287727	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:50287727G>A	uc002xwg.1	-	12	1107	c.1107C>T	c.(1105-1107)CCC>CCT	p.P369P	ATP9A_uc010gih.1_Silent_p.P233P|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	369	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						CCACGGTCCCGGGGATTTTCG	0.547												
MC3R	4159	broad.mit.edu	37	20	54824419	54824419	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:54824419G>A	uc002xxb.2	+	1	632	c.520G>A	c.(520-522)GTC>ATC	p.V174I		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	211	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			CTGCTGCGGCGTCTGTGGCGT	0.562												
CTCFL	140690	broad.mit.edu	37	20	56099011	56099011	+	Missense_Mutation	SNP	G	G	A	rs144712440		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:56099011G>A	uc010gix.1	-	1	913	c.251C>T	c.(250-252)ACG>ATG	p.T84M	CTCFL_uc010giw.1_Missense_Mutation_p.T84M|CTCFL_uc002xym.2_Missense_Mutation_p.T84M|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.T84M|CTCFL_uc010gjb.1_Missense_Mutation_p.T84M|CTCFL_uc010gjc.1_Missense_Mutation_p.T84M|CTCFL_uc010gjd.1_Missense_Mutation_p.T84M|CTCFL_uc010gje.2_Missense_Mutation_p.T84M|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.T84M|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.T84M|CTCFL_uc010gjk.1_Missense_Mutation_p.T84M|CTCFL_uc010gjl.1_Missense_Mutation_p.T84M	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	84					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GAAGTGCACCGTCTGCAGGGT	0.597												
STX16	8675	broad.mit.edu	37	20	57244419	57244419	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:57244419C>T	uc002xzi.2	+	5	1201	c.466C>T	c.(466-468)CGG>TGG	p.R156W	STX16_uc010zzq.1_Intron|STX16_uc002xzk.2_Missense_Mutation_p.R139W|STX16_uc002xzm.2_Missense_Mutation_p.R152W|STX16_uc002xzj.2_Missense_Mutation_p.R135W|STX16_uc002xzl.2_Intron	NM_001001433	NP_001001433	O14662	STX16_HUMAN	syntaxin 16 isoform a	156	Cytoplasmic (Potential).				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GCAGGAGGGGCGGCTGCTTGG	0.687												
GNAS	2778	broad.mit.edu	37	20	57429071	57429071	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:57429071G>A	uc002xzw.2	+	1	1036	c.751G>A	c.(751-753)GGC>AGC	p.G251S	GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	Error:Variant_position_missing_in_P63092_after_alignment					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACAAGTCGACGGCAGCAGCCA	0.677			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
LAMA5	3911	broad.mit.edu	37	20	60892478	60892478	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:60892478C>T	uc002ycq.2	-	55	7501	c.7434G>A	c.(7432-7434)GCG>GCA	p.A2478A		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2478	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTTGCTGCCCGCCGGGGAGA	0.677												
NTSR1	4923	broad.mit.edu	37	20	61386229	61386229	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:61386229C>T	uc002ydf.2	+	2	1278	c.907C>T	c.(907-909)CGC>TGC	p.R303C		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	303	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCACGGCGTGCGCGTCCTACG	0.697												
COL9A3	1299	broad.mit.edu	37	20	61467614	61467614	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:61467614G>A	uc002ydm.2	+	28	1480	c.1477G>A	c.(1477-1479)GGG>AGG	p.G493R	COL9A3_uc002ydn.2_5'Flank	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	493	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					GGGTGTCCCCGGGCCCCCCGG	0.677												
DIDO1	11083	broad.mit.edu	37	20	61511147	61511147	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:61511147G>A	uc002ydr.1	-	16	6425	c.6161C>T	c.(6160-6162)GCG>GTG	p.A2054V	DIDO1_uc002yds.1_Missense_Mutation_p.A2054V	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	2054					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CTGTCCGGGCGCACTGGAGGA	0.716												
GMEB2	26205	broad.mit.edu	37	20	62226976	62226976	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:62226976G>A	uc002yfp.1	-	5	1085	c.606C>T	c.(604-606)CCC>CCT	p.P202P	GMEB2_uc002yfo.1_Silent_p.P124P|GMEB2_uc002yfq.1_Silent_p.P202P	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	202					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CGGCTGCGGCGGGCGTGAGGG	0.672												
SLC2A4RG	56731	broad.mit.edu	37	20	62373773	62373773	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:62373773C>T	uc002ygq.2	+	6	820	c.765C>T	c.(763-765)GAC>GAT	p.D255D	SLC2A4RG_uc002ygr.2_Silent_p.D150D|SLC2A4RG_uc011abj.1_Silent_p.D150D|SLC2A4RG_uc002ygs.2_Silent_p.D57D|SLC2A4RG_uc002ygt.2_Intron	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	255	Nuclear export signal.					cytoplasm|nucleus	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)					CGCTGACCGACGGGCTGTCCA	0.592												
TPD52L2	7165	broad.mit.edu	37	20	62500675	62500675	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:62500675G>T	uc002yhc.2	+	2	175	c.46G>T	c.(46-48)GGT>TGT	p.G16C	TPD52L2_uc002ygy.2_Missense_Mutation_p.G16C|TPD52L2_uc002ygz.2_Missense_Mutation_p.G16C|TPD52L2_uc002yha.2_Missense_Mutation_p.G16C|TPD52L2_uc002yhb.2_Missense_Mutation_p.G16C|TPD52L2_uc002yhd.2_Missense_Mutation_p.G16C|TPD52L2_uc011abk.1_Translation_Start_Site|TPD52L2_uc011abl.1_Intron	NM_003288	NP_003279	O43399	TPD54_HUMAN	tumor protein D52-like 2 isoform e	16					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			ovary(1)|skin(1)	2	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TCCTAACAAAGGTCTGCTGTC	0.498												
NRIP1	8204	broad.mit.edu	37	21	16338717	16338717	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:16338717T>C	uc002yjx.2	-	4	2395	c.1797A>G	c.(1795-1797)TCA>TCG	p.S599S		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	599	Repression domain 2.|CTBP-binding (Potential).			SMDLT->PIAAS: Does not further disrupt transcriptional repression; when associated with 442-AA-443 and 567-AA- 568.	androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TAAGGTCCATTGAGTGGTTAG	0.433												
TMPRSS15	5651	broad.mit.edu	37	21	19666606	19666606	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:19666606C>T	uc002ykw.2	-	21	2498	c.2467G>A	c.(2467-2469)GCC>ACC	p.A823T		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	823	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						CAGTGTGCGGCGGACACCAGC	0.577												
CYYR1	116159	broad.mit.edu	37	21	27938592	27938592	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:27938592T>C	uc002ymd.2	-	2	491	c.169A>G	c.(169-171)ATC>GTC	p.I57V	CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.I57V	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	57	Extracellular (Potential).					integral to membrane					0						CACGAGAGGATATTCCCAATA	0.428												
GCFC1	94104	broad.mit.edu	37	21	34131455	34131455	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:34131455C>T	uc002yqn.2	-	7	1509	c.1319G>A	c.(1318-1320)CGG>CAG	p.R440Q	GCFC1_uc002yqm.2_5'Flank|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.R440Q	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	440						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						AAATTTATACCGTTCACCAAT	0.403												
DOPEY2	9980	broad.mit.edu	37	21	37665661	37665661	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:37665661C>T	uc002yvg.2	+	37	6768	c.6689C>T	c.(6688-6690)CCG>CTG	p.P2230L	DOPEY2_uc011aeb.1_Missense_Mutation_p.P2179L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	2230					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						AGTGAATTCCCGCTTCTGCGC	0.453												
BRWD1	54014	broad.mit.edu	37	21	40578077	40578077	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:40578077G>A	uc002yxk.1	-	37	4460	c.4321C>T	c.(4321-4323)CGG>TGG	p.R1441W	BRWD1_uc010goc.1_Missense_Mutation_p.R84W|BRWD1_uc002yxl.2_Missense_Mutation_p.R1441W|BRWD1_uc010god.1_Missense_Mutation_p.R359W	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAATTTTGCCGTTGCTTGAAC	0.294												
BRWD1	54014	broad.mit.edu	37	21	40685223	40685223	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:40685223G>T	uc002yxk.1	-	2	191	c.52C>A	c.(52-54)CTG>ATG	p.L18M	BRWD1_uc002yxl.2_Missense_Mutation_p.L18M|BRWD1_uc002yxm.2_Missense_Mutation_p.L18M	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGGAAGTACAGCTCTGCGGGA	0.582												
IGSF5	150084	broad.mit.edu	37	21	41151084	41151084	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:41151084T>C	uc002yyo.2	+	5	889	c.786T>C	c.(784-786)CCT>CCC	p.P262P		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	262	Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)				TTTCATTGCCTACTTGGGGCA	0.333												
MX1	4599	broad.mit.edu	37	21	42817381	42817381	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:42817381C>T	uc002yzh.2	+	14	1962	c.1015C>T	c.(1015-1017)CTG>TTG	p.L339L	MX1_uc002yzi.2_Silent_p.L339L|MX1_uc010goq.2_Silent_p.L339L	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	339					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TCAGAAATCTCTGCCCCTGTT	0.423												
ZNF295	49854	broad.mit.edu	37	21	43411985	43411985	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:43411985G>A	uc002zab.3	-	3	2434	c.2220C>T	c.(2218-2220)CAC>CAT	p.H740H	ZNF295_uc002yzz.3_Silent_p.H539H|ZNF295_uc002yzy.3_Silent_p.H740H|ZNF295_uc002zaa.3_Silent_p.H740H	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	740					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						ACAGCCGCTCGTGGCTTCCTT	0.537												
UMODL1	89766	broad.mit.edu	37	21	43531622	43531622	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:43531622G>A	uc002zaf.1	+	12	1906	c.1906G>A	c.(1906-1908)GGA>AGA	p.G636R	UMODL1_uc002zad.1_Missense_Mutation_p.G564R|UMODL1_uc002zae.1_Missense_Mutation_p.G692R|UMODL1_uc002zag.1_Missense_Mutation_p.G764R|C21orf128_uc002zak.2_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	636	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						ACAGCTACAGGGAAACTCCAT	0.637												
UBASH3A	53347	broad.mit.edu	37	21	43863426	43863426	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:43863426G>A	uc002zbe.2	+	13	1672	c.1636G>A	c.(1636-1638)GCG>ACG	p.A546T	UBASH3A_uc002zbf.2_Missense_Mutation_p.A508T|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Intron	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	546	Phosphatase-like.					cytosol|nucleus		p.A546V(1)		ovary(3)	3						TTCCAGGCCCGCGTTTCCCCT	0.592												
AIRE	326	broad.mit.edu	37	21	45708227	45708227	+	Splice_Site	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:45708227G>T	uc002zei.2	+	5	666	c.539_splice	c.e5-1	p.G180_splice	AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1						positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		CCCTTTCCCAGGGATTCAGAC	0.617									Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy			
AIRE	326	broad.mit.edu	37	21	45713760	45713760	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:45713760G>A	uc002zei.2	+	11	1494	c.1367G>A	c.(1366-1368)CGC>CAC	p.R456H	AIRE_uc010gpq.2_RNA|AIRE_uc002zej.2_Missense_Mutation_p.R259H|AIRE_uc010gpr.2_Missense_Mutation_p.R259H	NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	456	PHD-type 2.			CGDGTDVLRCTHCAAAFHWRCHFPAGTSRPG -> W (in Ref. 3; CAA08759).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		TTCCACTGGCGCTGCCACTTC	0.577									Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy			
COL6A2	1292	broad.mit.edu	37	21	47552078	47552078	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:47552078C>T	uc002zia.1	+	28	2754	c.2672C>T	c.(2671-2673)GCC>GTC	p.A891V	COL6A2_uc002zib.1_Missense_Mutation_p.A297V|COL6A2_uc002zic.1_5'UTR|COL6A2_uc010gqe.1_RNA	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	891	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGCAGGTGGCCTTCCCGCTG	0.697												
PRMT2	3275	broad.mit.edu	37	21	48068520	48068520	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:48068520C>T	uc002zjx.2	+	6	792	c.478C>T	c.(478-480)CGG>TGG	p.R160W	PRMT2_uc002zjw.2_Missense_Mutation_p.R160W|PRMT2_uc002zjy.2_Missense_Mutation_p.R160W|PRMT2_uc010gqm.2_Missense_Mutation_p.R160W|PRMT2_uc011aga.1_Missense_Mutation_p.R160W|PRMT2_uc011agb.1_Missense_Mutation_p.R160W|PRMT2_uc011agc.1_Missense_Mutation_p.R160W|PRMT2_uc002zjz.1_Missense_Mutation_p.R46W	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	160	Interaction with RB1 (By similarity).|Interaction with ESR1.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			ovary(1)	1	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		ACACTATGCGCGGCCTAGAGC	0.582												
ARVCF	421	broad.mit.edu	37	22	19969137	19969137	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:19969137G>A	uc002zqz.2	-	5	764	c.493C>T	c.(493-495)CGG>TGG	p.R165W	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_Missense_Mutation_p.R165W	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	165					cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					AGGAAATGCCGGTCCAGGGCA	0.682												
SLC7A4	6545	broad.mit.edu	37	22	21385312	21385312	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:21385312G>T	uc002zud.2	-	2	858	c.790C>A	c.(790-792)CCA>ACA	p.P264T	SLC7A4_uc002zue.2_Missense_Mutation_p.P264T	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	264					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GACCGCCGTGGGTTCTGGGCC	0.627												
PPM1F	9647	broad.mit.edu	37	22	22277609	22277609	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:22277609C>T	uc002zvp.1	-	8	1335	c.1221G>A	c.(1219-1221)ACG>ACA	p.T407T	PPM1F_uc011aik.1_Silent_p.T303T	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	407					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CCACCATGACCGTGATGTTGT	0.692												
GNAZ	2781	broad.mit.edu	37	22	23438508	23438508	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:23438508G>A	uc002zwu.1	+	2	1163	c.626G>A	c.(625-627)CGC>CAC	p.R209H	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	209						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)		AGGTCAGAGCGCAAAAAGTGG	0.562												
CABIN1	23523	broad.mit.edu	37	22	24472130	24472130	+	Missense_Mutation	SNP	C	C	T	rs41310246	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:24472130C>T	uc002zzi.1	+	19	2772	c.2645C>T	c.(2644-2646)ACG>ATG	p.T882M	CABIN1_uc002zzj.1_Missense_Mutation_p.T832M|CABIN1_uc002zzl.1_Missense_Mutation_p.T882M	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	882					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						ATGTCAGAGACGCCCATGCTC	0.592												
RFPL1	5988	broad.mit.edu	37	22	29834824	29834824	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:29834824A>G	uc003afn.2	+	1	253	c.44A>G	c.(43-45)CAC>CGC	p.H15R	RFPL1S_uc003afm.1_RNA	NM_021026	NP_066306	O75677	RFPL1_HUMAN	ret finger protein-like 1	15							zinc ion binding				0						CTTTCACCTCACGGAAATTTT	0.463												
MTMR3	8897	broad.mit.edu	37	22	30416738	30416738	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:30416738C>T	uc003agv.3	+	17	3418	c.3090C>T	c.(3088-3090)CGC>CGT	p.R1030R	MTMR3_uc003agu.3_Silent_p.R1030R|MTMR3_uc003agw.3_Silent_p.R1030R	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	1030	Potential.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCCAACAGCGCCTGCGTCAGA	0.567												
TCN2	6948	broad.mit.edu	37	22	31011360	31011360	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:31011360G>A	uc003aip.1	+	5	811	c.653G>A	c.(652-654)CGG>CAG	p.R218Q	TCN2_uc003aiq.1_Missense_Mutation_p.R214Q|TCN2_uc003air.1_Missense_Mutation_p.R191Q	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	218					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGGAGACAACGGATCACCATG	0.552												
APOL5	80831	broad.mit.edu	37	22	36123049	36123049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:36123049C>T	uc003aof.2	+	3	934	c.934C>T	c.(934-936)CAG>TAG	p.Q312*		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	apolipoprotein L5	312					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding				0						CAGCTTCCTGCAGAGCTGGAA	0.577												
TRIOBP	11078	broad.mit.edu	37	22	38120833	38120833	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:38120833C>A	uc003atr.2	+	7	2541	c.2270C>A	c.(2269-2271)TCC>TAC	p.S757Y	TRIOBP_uc003atu.2_Missense_Mutation_p.S585Y|TRIOBP_uc003atq.1_Missense_Mutation_p.S757Y|TRIOBP_uc003ats.1_Missense_Mutation_p.S585Y	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	757					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					CCCAGAGCCTCCTCTCCTAAC	0.567												
TRIOBP	11078	broad.mit.edu	37	22	38130633	38130633	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:38130633G>T	uc003atr.2	+	9	4561	c.4290G>T	c.(4288-4290)CAG>CAT	p.Q1430H	TRIOBP_uc003atu.2_Missense_Mutation_p.Q1258H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1430					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GGCAGAGTCAGGAGGAACCGC	0.662												
MICALL1	85377	broad.mit.edu	37	22	38322040	38322040	+	Silent	SNP	G	G	A	rs149812469	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:38322040G>A	uc003aui.2	+	8	1539	c.1455G>A	c.(1453-1455)GCG>GCA	p.A485A		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	molecule interacting with Rab13	485	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)	1	Melanoma(58;0.045)					CACCCAGCGCGTCCCCACTGG	0.667												
SLC16A8	23539	broad.mit.edu	37	22	38478747	38478747	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:38478747G>A	uc003auu.2	-	2	264	c.134C>T	c.(133-135)GCG>GTG	p.A45V		NM_013356	NP_037488	O95907	MOT3_HUMAN	solute carrier family 16, member 8	45	Extracellular (Potential).				blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity				0	Melanoma(58;0.045)				Pyruvic acid(DB00119)	GCGCATGAGCGCGCGGAAGAA	0.667												
KCNJ4	3761	broad.mit.edu	37	22	38823979	38823979	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:38823979C>T	uc003avs.1	-	2	256	c.159G>A	c.(157-159)ACG>ACA	p.T53T	KCNJ4_uc003avt.1_Silent_p.T53T	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	53	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					AGCGCCAGCGCGTGTCCACGC	0.572												
CBX7	23492	broad.mit.edu	37	22	39534654	39534654	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:39534654C>T	uc003axb.2	-	4	322	c.233G>A	c.(232-234)CGG>CAG	p.R78Q	CBX7_uc003axc.2_Missense_Mutation_p.R78Q	NM_175709	NP_783640	O95931	CBX7_HUMAN	chromobox homolog 7	78					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				ovary(1)	1	Melanoma(58;0.04)					CAGCAGAAGCCGCTTGGGTTT	0.577												
PDGFB	5155	broad.mit.edu	37	22	39627738	39627738	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:39627738G>A	uc003axf.2	-	4	1334	c.345C>T	c.(343-345)AAC>AAT	p.N115N	PDGFB_uc003axe.2_Silent_p.N100N	NM_002608	NP_002599	P01127	PDGFB_HUMAN	platelet-derived growth factor beta isoform 1	115					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(1)	373	Melanoma(58;0.04)				Becaplermin(DB00102)	GGAAGTTGGCGTTGGTGCGGT	0.662			T	COL1A1	DFSP							
GRAP2	9402	broad.mit.edu	37	22	40351855	40351855	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:40351855G>A	uc003ayh.1	+	3	374	c.111G>A	c.(109-111)GCG>GCA	p.A37A	GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Intron|GRAP2_uc011aon.1_Intron|GRAP2_uc010gya.1_Silent_p.A37A|GRAP2_uc011aoo.1_Intron|GRAP2_uc011aop.1_Silent_p.A37A|GRAP2_uc011aoq.1_Intron|GRAP2_uc003ayj.1_Silent_p.A37A	NM_004810	NP_004801	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	37	SH3 1.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						GGTTTAAGGCGGAGCTTGGGA	0.463												
XPNPEP3	63929	broad.mit.edu	37	22	41305152	41305152	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:41305152C>T	uc003azh.2	+	6	974	c.882C>T	c.(880-882)GGC>GGT	p.G294G	XPNPEP3_uc011aox.1_3'UTR|XPNPEP3_uc003azi.2_Silent_p.G215G|XPNPEP3_uc011aoy.1_RNA	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3,	294					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity				0						GGGCTCGTGGCGCAGACATTT	0.478												
CYP2D6	1565	broad.mit.edu	37	22	42522927	42522927	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:42522927C>T	uc003bce.2	-	8	1331	c.1241G>A	c.(1240-1242)CGC>CAC	p.R414H	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.R108H|CYP2D6_uc003bcf.2_Missense_Mutation_p.R363H	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	414							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						GGGGTGGAAGCGGAAGGGCTT	0.622												
PKDREJ	10343	broad.mit.edu	37	22	46652619	46652619	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:46652619T>C	uc003bhh.2	-	1	6601	c.6601A>G	c.(6601-6603)AGA>GGA	p.R2201G		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	2201	Cytoplasmic (Potential).				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACATGGTTCTCAGCTTACGG	0.483												
ZBED4	9889	broad.mit.edu	37	22	50277971	50277971	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:50277971C>T	uc003bix.2	+	2	1131	c.661C>T	c.(661-663)CGA>TGA	p.R221*		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	221						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GTCCCCCGATCGAATAACAGA	0.552												
ZBED4	9889	broad.mit.edu	37	22	50280140	50280140	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:50280140A>G	uc003bix.2	+	2	3300	c.2830A>G	c.(2830-2832)AGC>GGC	p.S944G		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	944						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGGCTGCGAGCCGGGAGAT	0.597												
PANX2	56666	broad.mit.edu	37	22	50616542	50616542	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:50616542G>A	uc003bjn.3	+	2	1401	c.1401G>A	c.(1399-1401)ACG>ACA	p.T467T	PANX2_uc003bjp.3_Silent_p.T333T|PANX2_uc003bjo.3_Silent_p.T467T	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	pannexin 2 isoform 1	467	Cytoplasmic (Potential).				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)	1		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GCAGGAAGACGGCCACGGACA	0.617												
TRABD	80305	broad.mit.edu	37	22	50633392	50633392	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:50633392C>T	uc003bjq.1	+	5	429	c.343C>T	c.(343-345)CTG>TTG	p.L115L	TRABD_uc003bjr.1_5'UTR|TRABD_uc003bjs.1_Silent_p.L115L|TRABD_uc003bjt.1_Silent_p.L115L|TRABD_uc003bju.1_Silent_p.L115L|TRABD_uc003bjv.2_Silent_p.L115L|TRABD_uc003bjw.1_Silent_p.L115L	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	TraB domain containing	115											0		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		TGTGTCCATGCTGAAGATGGA	0.647												
PLXNB2	23654	broad.mit.edu	37	22	50722294	50722294	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:50722294T>C	uc003bkv.3	-	14	2495	c.2389A>G	c.(2389-2391)ACC>GCC	p.T797A	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	797	Extracellular (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)		CACTCGGAGGTGGTGTTGCAC	0.697												
MAPK8IP2	23542	broad.mit.edu	37	22	51043431	51043431	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:51043431T>C	uc003bmx.2	+	6	1821	c.1704T>C	c.(1702-1704)CCT>CCC	p.P568P	MAPK8IP2_uc003bmy.2_Silent_p.P541P|MAPK8IP2_uc011asc.1_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting	568					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			large_intestine(2)|central_nervous_system(1)	3		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)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGGACAGCCCTGACCTCACTT	0.652												
CNTN4	152330	broad.mit.edu	37	3	2942504	2942504	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:2942504G>T	uc003bpc.2	+	10	1297	c.1076G>T	c.(1075-1077)CGG>CTG	p.R359L	CNTN4_uc003bpb.1_Missense_Mutation_p.R31L|CNTN4_uc003bpd.1_Missense_Mutation_p.R359L|CNTN4_uc003bpe.2_Missense_Mutation_p.R31L|CNTN4_uc003bpf.2_Missense_Mutation_p.R31L	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	359	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTGCTAACTCGGGTAAGCAAG	0.408												
IL5RA	3568	broad.mit.edu	37	3	3137115	3137115	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:3137115A>G	uc011ask.1	-	9	1367	c.723T>C	c.(721-723)CCT>CCC	p.P241P	IL5RA_uc010hbq.2_Intron|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Silent_p.P241P|IL5RA_uc011asl.1_Silent_p.P241P|IL5RA_uc011asm.1_Silent_p.P241P|IL5RA_uc010hbt.2_Silent_p.P241P|IL5RA_uc011asn.1_Silent_p.P241P|IL5RA_uc010hbu.2_Silent_p.P241P	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	241	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CATTCAGTGGAGGATTTATTT	0.383												
GRM7	2917	broad.mit.edu	37	3	7340499	7340499	+	Missense_Mutation	SNP	G	G	A	rs74549759		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:7340499G>A	uc003bqm.2	+	3	1139	c.865G>A	c.(865-867)GAT>AAT	p.D289N	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.D289N|GRM7_uc003bql.2_Missense_Mutation_p.D289N|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	289	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	TTTTGCCAACGATGAGGATAT	0.433												
C3orf32	51066	broad.mit.edu	37	3	8667942	8667942	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:8667942A>G	uc003bqu.2	-	9	920	c.674T>C	c.(673-675)TTG>TCG	p.L225S	C3orf32_uc003bqz.2_Missense_Mutation_p.L225S|C3orf32_uc003bqt.2_Missense_Mutation_p.L174S|C3orf32_uc011atg.1_Missense_Mutation_p.L247S|C3orf32_uc003bqv.2_Missense_Mutation_p.L174S|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.L225S	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	225										skin(1)	1						GATGAAGTGCAACAGCTTCTT	0.572												
OGG1	4968	broad.mit.edu	37	3	9798261	9798261	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:9798261C>T	uc003bsi.2	+	5	1197	c.854C>T	c.(853-855)ACG>ATG	p.T285M	OGG1_uc003bsh.2_Missense_Mutation_p.T285M|OGG1_uc003bsj.2_Missense_Mutation_p.T285M|OGG1_uc003bsk.2_Missense_Mutation_p.T285M|OGG1_uc003bsl.2_Missense_Mutation_p.T285M|OGG1_uc003bsm.2_Missense_Mutation_p.T285M|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Missense_Mutation_p.T50M|OGG1_uc010hcm.1_Intron|OGG1_uc003bsq.1_Intron|OGG1_uc003bsr.1_Missense_Mutation_p.T50M	NM_002542	NP_002533	O15527	OGG1_HUMAN	8-oxoguanine DNA-glycosylase 1 isoform 1a	285					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding				0	Medulloblastoma(99;0.227)					CACCCTACCACGTCCCAGGCG	0.607								BER_DNA_glycosylases				
CRELD1	78987	broad.mit.edu	37	3	9979762	9979762	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:9979762C>T	uc003bug.2	+	5	550	c.432C>T	c.(430-432)CCC>CCT	p.P144P	CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Silent_p.P144P|CRELD1_uc003buh.2_Silent_p.P144P|CRELD1_uc003bui.2_Silent_p.P144P|CRELD1_uc003buj.2_RNA	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1 isoform 3	144	Extracellular (Potential).				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			ovary(1)	1						TCTGCTGCCCCGCAGGCACCT	0.552												
ATP2B2	491	broad.mit.edu	37	3	10382299	10382299	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:10382299C>T	uc003bvt.2	-	20	3446	c.3007G>A	c.(3007-3009)GTC>ATC	p.V1003I	ATP2B2_uc003bvv.2_Missense_Mutation_p.V958I|ATP2B2_uc003bvw.2_Missense_Mutation_p.V958I|ATP2B2_uc010hdo.2_Missense_Mutation_p.V708I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1003	Helical; (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TGCATCATGACGAAGGTGTTG	0.552												
SLC6A1	6529	broad.mit.edu	37	3	11060285	11060285	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:11060285C>T	uc010hdq.2	+	5	783	c.372C>T	c.(370-372)GGC>GGT	p.G124G		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	124	Helical; Name=3; (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CGCTCCCAGGCGTGGGCCTTG	0.498												
TSEN2	80746	broad.mit.edu	37	3	12560653	12560653	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:12560653G>T	uc003bxc.2	+	8	1443	c.1056G>T	c.(1054-1056)AAG>AAT	p.K352N	TSEN2_uc003bwy.2_Missense_Mutation_p.K352N|TSEN2_uc003bwz.2_Missense_Mutation_p.K293N|TSEN2_uc003bxa.2_Missense_Mutation_p.K326N|TSEN2_uc011auq.1_Missense_Mutation_p.K326N|TSEN2_uc003bxb.2_Missense_Mutation_p.K352N|TSEN2_uc011aur.1_Missense_Mutation_p.K261N	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	tRNA-intron nuclease 2 isoform 1	352					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(1)	1						TTCGAAGCAAGGGCTGGGTGC	0.458												
RAF1	5894	broad.mit.edu	37	3	12626080	12626080	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:12626080C>T	uc003bxf.3	-	17	2295	c.1880G>A	c.(1879-1881)CGG>CAG	p.R627Q	RAF1_uc011aut.1_Missense_Mutation_p.R412Q|RAF1_uc011auu.1_Missense_Mutation_p.R545Q	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	627					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	GTGGGCTGCCCGATGCAAGGA	0.557			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome			
GRIP2	80852	broad.mit.edu	37	3	14535243	14535243	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:14535243C>T	uc011avi.1	-	25	3356	c.3356G>A	c.(3355-3357)CGC>CAC	p.R1119H	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.R650H	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	1021	PDZ 7.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						GTGCGGCTTGCGGCTGATGAT	0.667												
SATB1	6304	broad.mit.edu	37	3	18390697	18390697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:18390697C>A	uc003cbh.2	-	11	3992	c.2257G>T	c.(2257-2259)GGA>TGA	p.G753*	SATB1_uc003cbi.2_Nonsense_Mutation_p.G785*|SATB1_uc003cbj.2_Nonsense_Mutation_p.G753*	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	753					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						TCTGTGTTTCCTTCCACTGAC	0.363												
NR1D2	9975	broad.mit.edu	37	3	23996119	23996119	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:23996119C>A	uc003ccs.2	+	2	427	c.108C>A	c.(106-108)TCC>TCA	p.S36S	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_5'UTR	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	36	Poly-Ser.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						TCCAGTCCTCCTCCTCTTCTG	0.443												
MLH1	4292	broad.mit.edu	37	3	37090086	37090086	+	Nonsense_Mutation	SNP	C	C	T	rs63750131		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:37090086C>T	uc003cgl.2	+	17	2035	c.1975C>T	c.(1975-1977)CGA>TGA	p.R659*	MLH1_uc011aye.1_Nonsense_Mutation_p.R418*|MLH1_uc011ayb.1_Nonsense_Mutation_p.R418*|MLH1_uc010hge.2_Intron|MLH1_uc003cgn.3_Nonsense_Mutation_p.R418*|MLH1_uc011ayc.1_Nonsense_Mutation_p.R561*|MLH1_uc011ayd.1_Nonsense_Mutation_p.R418*|MLH1_uc003cgo.2_Nonsense_Mutation_p.R418*|MLH1_uc010hgk.2_Nonsense_Mutation_p.R246*|MLH1_uc010hgn.2_Intron|MLH1_uc010hgm.2_Intron|MLH1_uc010hgo.2_Intron|MLH1_uc010hgp.2_Intron|MLH1_uc010hgq.2_Intron	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	659			R -> Q.|R -> L (in HNPCC2).|R -> P (in HNPCC2; interacts only very weakly with PMS2; equivalent substitution in yeast causes almost complete loss of function in a mismatch repair assay; abrogates interaction with EXO1).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						CTTCATTCTTCGACTAGCCAC	0.478		1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
ACAA1	30	broad.mit.edu	37	3	38167356	38167356	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:38167356G>A	uc003cht.2	-	10	1221	c.1014C>T	c.(1012-1014)GAC>GAT	p.D338D	ACAA1_uc003chu.2_Silent_p.D245D|ACAA1_uc010hgy.2_Silent_p.D297D|ACAA1_uc010hgz.2_Silent_p.D338D|ACAA1_uc003chv.2_Silent_p.D186D	NM_001607	NP_001598	P09110	THIK_HUMAN	acetyl-Coenzyme A acyltransferase 1 isoform a	338					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		AGATGTCCACGTCACTCACTG	0.597												
TTC21A	199223	broad.mit.edu	37	3	39174731	39174731	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:39174731G>T	uc003cjc.2	+	20	2949	c.2772G>T	c.(2770-2772)AAG>AAT	p.K924N	TTC21A_uc003cje.2_Missense_Mutation_p.K925N|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.K876N|TTC21A_uc011ayy.1_Missense_Mutation_p.K45N|TTC21A_uc003cjf.2_Missense_Mutation_p.K45N	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	924	TPR 14.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGACAATAAGGTGAGTGGCC	0.502												
XIRP1	165904	broad.mit.edu	37	3	39227260	39227260	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:39227260A>G	uc003cjk.1	-	2	3898	c.3677T>C	c.(3676-3678)CTG>CCG	p.L1226P	XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1226							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)		GGCAGTCTTCAGGGTGGTCTC	0.662												
CCR8	1237	broad.mit.edu	37	3	39374653	39374653	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:39374653G>A	uc010hhr.2	+	2	969	c.831G>A	c.(829-831)CAG>CAA	p.Q277Q	CCR8_uc003cjm.2_Silent_p.Q194Q	NM_005201	NP_005192	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	277	Extracellular (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)		TAAGCCAACAGCTGACTTATG	0.433												
ZBTB47	92999	broad.mit.edu	37	3	42703070	42703070	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:42703070G>A	uc003clu.1	+	2	541	c.439G>A	c.(439-441)GAG>AAG	p.E147K		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	zinc finger protein 651	147	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GTTCTCATGCGAGATCTGTGA	0.512												
KBTBD5	131377	broad.mit.edu	37	3	42727516	42727516	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:42727516G>A	uc003clv.1	+	1	506	c.406G>A	c.(406-408)GTC>ATC	p.V136I		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	136	BACK.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTGCTTGGCCGTCTTCCGTCT	0.642												
HIGD1A	25994	broad.mit.edu	37	3	42827616	42827616	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:42827616A>G	uc003cma.3	-	3	282	c.136T>C	c.(136-138)TAT>CAT	p.Y46H	HIGD1A_uc010hid.2_Missense_Mutation_p.Y60H|HIGD1A_uc003cmb.3_Missense_Mutation_p.Y46H	NM_001099669	NP_001093139	Q9Y241	HIG1A_HUMAN	HIG1 domain family, member 1A isoform b	46	Helical; (Potential).|HIG1.				response to stress	integral to membrane|protein complex	protein binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTCAGTTTATATAATCCATAT	0.418												
CYP8B1	1582	broad.mit.edu	37	3	42915829	42915829	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:42915829G>A	uc003cmh.2	-	1	1805	c.1480C>T	c.(1480-1482)CGC>TGC	p.R494C	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	494					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		AGGCGGTAGCGGAAGCGCACA	0.582												
CYP8B1	1582	broad.mit.edu	37	3	42916499	42916499	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:42916499A>G	uc003cmh.2	-	1	1135	c.810T>C	c.(808-810)GCT>GCC	p.A270A	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Silent_p.A270A	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B,	270					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TGTCCTGCATAGCTGAGGGTA	0.577												
ANO10	55129	broad.mit.edu	37	3	43641899	43641899	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:43641899C>T	uc003cmv.2	-	3	485	c.314G>A	c.(313-315)AGA>AAA	p.R105K	ANO10_uc011azs.1_Missense_Mutation_p.R105K|ANO10_uc003cmw.2_Intron|ANO10_uc010hil.2_Missense_Mutation_p.R105K|ANO10_uc011azt.1_Intron	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	105	Cytoplasmic (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2						GAAGTTCTGTCTGGTTCTGTA	0.368												
KIF15	56992	broad.mit.edu	37	3	44828026	44828026	+	Missense_Mutation	SNP	C	C	T	rs145837852		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:44828026C>T	uc003cnx.3	+	7	748	c.599C>T	c.(598-600)GCG>GTG	p.A200V	KIF15_uc010hiq.2_Missense_Mutation_p.A103V	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	200	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GTTGTTGGTGCGGTGGAGCAG	0.483												
LARS2	23395	broad.mit.edu	37	3	45527188	45527188	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:45527188C>T	uc003cop.1	+	11	1208	c.1023C>T	c.(1021-1023)TGC>TGT	p.C341C	LARS2_uc010hit.1_Silent_p.C298C	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	341					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TTTCAGATTGCCTCACGCCTG	0.453												
FYCO1	79443	broad.mit.edu	37	3	46009038	46009038	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:46009038C>A	uc003cpb.3	-	8	1994	c.1788G>T	c.(1786-1788)CAG>CAT	p.Q596H	FYCO1_uc011bal.1_Missense_Mutation_p.Q596H	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	596	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		ACTGTGCCTCCTGCAGGCCCC	0.607												
NBEAL2	23218	broad.mit.edu	37	3	47043895	47043895	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:47043895C>T	uc003cqp.2	+	32	5365	c.5186C>T	c.(5185-5187)ACG>ATG	p.T1729M	NBEAL2_uc010hjm.1_Missense_Mutation_p.T1106M|NBEAL2_uc010hjn.1_Missense_Mutation_p.T125M|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1729							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GAAATGGACACGTATGCTAAG	0.587												
PTPN23	25930	broad.mit.edu	37	3	47447275	47447275	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:47447275G>A	uc003crf.1	+	5	497	c.401G>A	c.(400-402)CGG>CAG	p.R134Q	PTPN23_uc011baw.1_Missense_Mutation_p.R109Q|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.R4Q	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	134	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGGACAAGCGGGTGTCTGAG	0.617												
DHX30	22907	broad.mit.edu	37	3	47891389	47891389	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:47891389G>A	uc003cru.2	+	22	3790	c.3364G>A	c.(3364-3366)GAC>AAC	p.D1122N	DHX30_uc003crt.2_Missense_Mutation_p.D1083N	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	1122						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)		CTCACTGAGCGACAGTGACCT	0.687											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
COL7A1	1294	broad.mit.edu	37	3	48605533	48605533	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:48605533C>T	uc003ctz.2	-	105	7866	c.7865G>A	c.(7864-7866)CGG>CAG	p.R2622Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2622	Triple-helical region.		R -> W (in RDEB).		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)		CTTGAGGCCCCGGGGACCCAT	0.542												
CELSR3	1951	broad.mit.edu	37	3	48690485	48690485	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:48690485G>A	uc003cul.2	-	10	5865	c.5584C>T	c.(5584-5586)CGG>TGG	p.R1862W	CELSR3_uc003cuf.1_Missense_Mutation_p.R1932W|CELSR3_uc010hkg.2_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1862	Extracellular (Potential).|Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGCCCCGCCGGCCACCTGGT	0.622												
DALRD3	55152	broad.mit.edu	37	3	49055245	49055245	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:49055245C>A	uc003cvk.1	-	3	539	c.519G>T	c.(517-519)CAG>CAT	p.Q173H	DALRD3_uc003cvl.1_Missense_Mutation_p.Q173H|DALRD3_uc003cvm.1_Missense_Mutation_p.Q6H|DALRD3_uc010hko.1_Missense_Mutation_p.Q6H|DALRD3_uc011bca.1_Missense_Mutation_p.Q173H|NDUFAF3_uc003cvn.2_5'Flank	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	173					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCGCAGTTGCTGCAGGAAGG	0.647												
USP19	10869	broad.mit.edu	37	3	49146401	49146401	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:49146401C>T	uc003cwd.1	-	26	4108	c.3947G>A	c.(3946-3948)CGC>CAC	p.R1316H	USP19_uc003cwa.2_Intron|USP19_uc003cvz.3_Intron|USP19_uc011bcg.1_Intron|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.R1074H|USP19_uc011bch.1_Missense_Mutation_p.R1417H	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	1316	Lumenal (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)		TCATCTCCAGCGACTCTGGGA	0.622												
LAMB2	3913	broad.mit.edu	37	3	49168416	49168416	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:49168416G>A	uc003cwe.2	-	7	1181	c.882C>T	c.(880-882)CCC>CCT	p.P294P	LAMB2_uc003cwf.1_Silent_p.P294P	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	294	Laminin EGF-like 1.				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)		CCCCTGGGGCGGGTGCACACT	0.612												
RNF123	63891	broad.mit.edu	37	3	49751243	49751243	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:49751243G>A	uc003cxh.2	+	29	2908	c.2822G>A	c.(2821-2823)CGA>CAA	p.R941Q	RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	941						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCTGTGGAGCGAATCCCCGAG	0.672												
IP6K1	9807	broad.mit.edu	37	3	49764826	49764826	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:49764826C>T	uc003cxm.1	-	6	1370	c.1055G>A	c.(1054-1056)CGC>CAC	p.R352H	IP6K1_uc003cxn.1_Missense_Mutation_p.R187H|IP6K1_uc011bcv.1_Missense_Mutation_p.R187H|IP6K1_uc003cxo.2_3'UTR	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	352					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						CTCAGACCGGCGGTCCAGGCA	0.632												
HEMK1	51409	broad.mit.edu	37	3	50615293	50615293	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:50615293C>T	uc003dau.2	+	7	947	c.651C>T	c.(649-651)CTC>CTT	p.L217L	HEMK1_uc003dav.2_Silent_p.L217L|HEMK1_uc003daw.2_Silent_p.L217L	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	217					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		TCATCCACCTCGACATGACCT	0.572												
DOCK3	1795	broad.mit.edu	37	3	51418508	51418508	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:51418508C>A	uc011bds.1	+	53	5634	c.5611C>A	c.(5611-5613)CCC>ACC	p.P1871T		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1871						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCCAGCCTCCCCCACAAGCCC	0.602												
RAD54L2	23132	broad.mit.edu	37	3	51697262	51697262	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:51697262G>A	uc011bdt.1	+	22	4355	c.4230G>A	c.(4228-4230)TCG>TCA	p.S1410S	RAD54L2_uc003dbh.2_Silent_p.S999S|RAD54L2_uc011bdu.1_Silent_p.S1104S|RAD54L2_uc003dbj.2_Silent_p.S736S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1410						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCAACCTTTCGCGGGGCATGT	0.572												
ALAS1	211	broad.mit.edu	37	3	52233281	52233281	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:52233281C>T	uc003dcy.1	+	3	361	c.24C>T	c.(22-24)TGC>TGT	p.C8C	ALAS1_uc003dcx.1_Silent_p.C8C|ALAS1_uc003dcz.1_Silent_p.C8C|ALAS1_uc011bec.1_Silent_p.C25C	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	8					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTCGCCGCTGCCCATTCTTAT	0.483												
BAP1	8314	broad.mit.edu	37	3	52436395	52436395	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:52436395C>T	uc003ddx.2	-	17	2214	c.2099G>A	c.(2098-2100)CGG>CAG	p.R700Q	BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_RNA	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	700	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q694fs*14(1)		pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCCTTGGCGCCGCCGCACGGA	0.657			N|Mis|F|S|O		uveal melanoma|breast|NSCLC							
BAP1	8314	broad.mit.edu	37	3	52437509	52437509	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:52437509C>T	uc003ddx.2	-	13	1767	c.1652G>A	c.(1651-1653)CGT>CAT	p.R551H	BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_Intron	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	551					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ACCCAGATCACGGACAGCACG	0.617			N|Mis|F|S|O		uveal melanoma|breast|NSCLC							
STAB1	23166	broad.mit.edu	37	3	52554481	52554481	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:52554481C>T	uc003dej.2	+	53	5639	c.5565C>T	c.(5563-5565)GGC>GGT	p.G1855G	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1855	Extracellular (Potential).|FAS1 6.				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)		TTGAGGGTGGCCTGGCCTATG	0.617												
STAB1	23166	broad.mit.edu	37	3	52555418	52555418	+	Missense_Mutation	SNP	G	G	A	rs142954501		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:52555418G>A	uc003dej.2	+	56	6024	c.5950G>A	c.(5950-5952)GTG>ATG	p.V1984M	STAB1_uc003dek.1_Translation_Start_Site|STAB1_uc003del.2_Translation_Start_Site	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1984	Extracellular (Potential).|Laminin EGF-like 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGACCGTGGCGTGTGCATGGA	0.637												
GLT8D1	55830	broad.mit.edu	37	3	52729496	52729496	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:52729496C>T	uc003dfi.3	-	8	892	c.753G>A	c.(751-753)ACG>ACA	p.T251T	GLT8D1_uc003dfj.2_Silent_p.T251T|GLT8D1_uc003dfk.2_Silent_p.T251T|GLT8D1_uc003dfl.2_Silent_p.T251T|GLT8D1_uc003dfm.2_Silent_p.T251T|GLT8D1_uc003dfn.2_Silent_p.T251T|GLT8D1_uc003dfo.1_Silent_p.T251T	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	251	Lumenal (Potential).					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups				0				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTTTCCATTCCGTCAGGTTTG	0.368												
ITIH3	3699	broad.mit.edu	37	3	52831901	52831901	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:52831901C>T	uc003dfv.2	+	6	654	c.618C>T	c.(616-618)AAC>AAT	p.N206N	ITIH3_uc011bek.1_Silent_p.N206N	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	206					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(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)		TCATCACCAACGACCTCCTGG	0.527												
CACNA1D	776	broad.mit.edu	37	3	53531458	53531458	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:53531458G>A	uc003dgv.3	+	2	510	c.347G>A	c.(346-348)CGA>CAA	p.R116Q	CACNA1D_uc003dgu.3_Missense_Mutation_p.R116Q|CACNA1D_uc003dgy.3_Missense_Mutation_p.R116Q	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	116	Cytoplasmic (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R116*(1)		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)	AACCCCATCCGAAGAGCCTGC	0.423												
CHDH	55349	broad.mit.edu	37	3	53852082	53852082	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:53852082G>A	uc003dgz.2	-	9	1947	c.1507C>T	c.(1507-1509)CGG>TGG	p.R503W		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	503					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			ovary(1)|central_nervous_system(1)	2		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GCTTTTGCCCGCACAAAGGCA	0.582												
ACTR8	93973	broad.mit.edu	37	3	53911774	53911774	+	Missense_Mutation	SNP	C	C	T	rs149202945		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:53911774C>T	uc003dhd.2	-	4	469	c.410G>A	c.(409-411)CGC>CAC	p.R137H	ACTR8_uc003dhb.2_5'Flank|ACTR8_uc003dhc.2_Missense_Mutation_p.R26H	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	137					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATTGTAGGAGCGTGCCTGAAA	0.408												
PDHB	5162	broad.mit.edu	37	3	58416460	58416460	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:58416460G>A	uc003dkf.3	-	6	542	c.513C>T	c.(511-513)GGC>GGT	p.G171G	PDHB_uc003dke.3_Silent_p.G129G|PDHB_uc003dkg.3_Silent_p.G153G|PDHB_uc010hnl.2_Silent_p.G153G|PDHB_uc011bff.1_Silent_p.G153G	NM_000925	NP_000916	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	171					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	CCACCTTTAAGCCTGGGCAGT	0.527												
PTPRG	5793	broad.mit.edu	37	3	62189130	62189130	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:62189130C>T	uc003dlb.2	+	12	2380	c.1661C>T	c.(1660-1662)GCC>GTC	p.A554V	PTPRG_uc003dlc.2_Missense_Mutation_p.A554V	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	554	Extracellular (Potential).				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)		CCAGTCCTAGCCACCACAGAG	0.572												
ADAMTS9	56999	broad.mit.edu	37	3	64579967	64579967	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:64579967G>A	uc003dmg.2	-	28	4355	c.4323C>T	c.(4321-4323)CAC>CAT	p.H1441H	ADAMTS9_uc011bfo.1_Silent_p.H1413H|ADAMTS9_uc003dmh.1_Silent_p.H1270H|ADAMTS9_uc011bfp.1_Silent_p.H352H	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1441	TSP type-1 11.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ATGCAGCGTCGTGTGGACAAG	0.488												
LRIG1	26018	broad.mit.edu	37	3	66436701	66436701	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:66436701A>G	uc003dmx.2	-	13	1507	c.1493T>C	c.(1492-1494)ATC>ACC	p.I498T	SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Missense_Mutation_p.I118T|LRIG1_uc003dmw.2_Missense_Mutation_p.I164T|LRIG1_uc010hnz.2_Missense_Mutation_p.I214T|LRIG1_uc010hoa.2_Missense_Mutation_p.I522T	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	498	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGGCTGGGTGATGATCTGTGG	0.547												
ROBO2	6092	broad.mit.edu	37	3	77666779	77666779	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:77666779G>A	uc003dpy.3	+	22	4052	c.3409G>A	c.(3409-3411)GTG>ATG	p.V1137M	ROBO2_uc003dpz.2_Missense_Mutation_p.V1141M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V1141M|ROBO2_uc003dqa.2_Missense_Mutation_p.V264M	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1137	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.V1137M(1)		lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGTTCGAGGCGTGGCTTCTTC	0.527												
GBE1	2632	broad.mit.edu	37	3	81586171	81586171	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:81586171C>T	uc003dqg.2	-	14	1977	c.1694G>A	c.(1693-1695)CGG>CAG	p.R565Q	GBE1_uc011bgm.1_Missense_Mutation_p.R524Q	NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	565					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		ATGAAACTGCCGCCTGGCATA	0.383									Glycogen_Storage_Disease_type_IV			
HTR1F	3355	broad.mit.edu	37	3	88040619	88040619	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:88040619A>G	uc003dqr.2	+	2	878	c.720A>G	c.(718-720)TCA>TCG	p.S240S		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	240	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GCACTAAATCAGTTTCCACAT	0.408												
COL8A1	1295	broad.mit.edu	37	3	99513939	99513939	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:99513939A>G	uc003dtg.1	+	5	1439	c.1194A>G	c.(1192-1194)CCA>CCG	p.P398P	COL8A1_uc003dth.1_Silent_p.P398P|COL8A1_uc003dti.1_Silent_p.P399P	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	398	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						CTGGAATCCCAGGTCCTATGG	0.612												
ABI3BP	25890	broad.mit.edu	37	3	100569516	100569516	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:100569516T>C	uc003dun.2	-	14	1373	c.1288A>G	c.(1288-1290)AGG>GGG	p.R430G	ABI3BP_uc003duo.2_Missense_Mutation_p.R472G	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	430	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						AGTGTTGCCCTTGGCTGTTCA	0.333												
IMPG2	50939	broad.mit.edu	37	3	100992453	100992453	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:100992453T>C	uc003duq.1	-	7	1003	c.800A>G	c.(799-801)CAG>CGG	p.Q267R	IMPG2_uc011bhe.1_Missense_Mutation_p.Q130R	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	267	Extracellular (Potential).|Hyaluronan-binding motif involved in chondroitin sulfate A-binding (By similarity).|SEA 1.				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						TTCAAGGTGCTGGTGGTGAAA	0.418												
DZIP3	9666	broad.mit.edu	37	3	108405333	108405333	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:108405333C>T	uc003dxd.2	+	28	3473	c.3051C>T	c.(3049-3051)GAC>GAT	p.D1017D	DZIP3_uc003dxf.1_Silent_p.D1017D|DZIP3_uc011bhm.1_Silent_p.D468D	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	1017					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CTGTGGGAGACGCTGTGCCTC	0.517												
GUCA1C	9626	broad.mit.edu	37	3	108672544	108672544	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:108672544C>T	uc003dxj.2	-	1	134	c.66G>A	c.(64-66)TGG>TGA	p.W22*	GUCA1C_uc003dxk.2_Nonsense_Mutation_p.W22*	NM_005459	NP_005450	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	22	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						ATGTTCTGTACCACACATGGG	0.433												
CCDC80	151887	broad.mit.edu	37	3	112326068	112326068	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:112326068C>T	uc003dzf.2	-	7	2679	c.2461G>A	c.(2461-2463)GTT>ATT	p.V821I	CCDC80_uc011bhv.1_Intron|CCDC80_uc003dzg.2_Missense_Mutation_p.V821I|CCDC80_uc003dzh.1_Missense_Mutation_p.V821I	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	821										ovary(2)	2						TCCTCTCCAACGCCTAAAAGC	0.368												
TMEM39A	55254	broad.mit.edu	37	3	119176971	119176971	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:119176971A>G	uc003eck.1	-	3	593	c.230T>C	c.(229-231)TTC>TCC	p.F77S	TMEM39A_uc003ecl.1_5'UTR	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	77	Helical; (Potential).					integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)		GAAAAAAAGGAATTCAAAGAG	0.438												
GTF2E1	2960	broad.mit.edu	37	3	120499907	120499907	+	Missense_Mutation	SNP	G	G	A	rs140000454		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:120499907G>A	uc003edz.3	+	5	1024	c.910G>A	c.(910-912)GCA>ACA	p.A304T		NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	304					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)		AGATATGGACGCATTTCAGGA	0.428												
PARP14	54625	broad.mit.edu	37	3	122437344	122437344	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:122437344T>C	uc003efq.3	+	14	4405	c.4346T>C	c.(4345-4347)CTG>CCG	p.L1449P	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.L1166P|PARP14_uc003efs.1_Missense_Mutation_p.L1166P	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		CTACAAGACCTGATTGAAAAA	0.398												
PDIA5	10954	broad.mit.edu	37	3	122829827	122829827	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:122829827C>T	uc003egc.1	+	7	573	c.517C>T	c.(517-519)CTC>TTC	p.L173F	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	173	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		AGAGAAGCCGCTCCTGATCAT	0.537												
MYLK	4638	broad.mit.edu	37	3	123333119	123333119	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:123333119C>T	uc003ego.2	-	34	5860	c.5578G>A	c.(5578-5580)GAT>AAT	p.D1860N	uc003egk.2_Intron|MYLK_uc003egl.2_Missense_Mutation_p.D100N|MYLK_uc003egm.2_Missense_Mutation_p.D99N|MYLK_uc010hrr.2_Missense_Mutation_p.D295N|MYLK_uc011bjv.1_Missense_Mutation_p.D660N|MYLK_uc011bjw.1_Missense_Mutation_p.D1859N|MYLK_uc003egp.2_Missense_Mutation_p.D1791N|MYLK_uc003egq.2_Missense_Mutation_p.D1809N|MYLK_uc003egr.2_Missense_Mutation_p.D1740N|MYLK_uc003egs.2_Missense_Mutation_p.D1684N	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1860	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCGTCCTCATCGTAGTCTATC	0.512												
PLXNA1	5361	broad.mit.edu	37	3	126708374	126708374	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:126708374A>G	uc003ejg.2	+	1	873	c.869A>G	c.(868-870)CAG>CGG	p.Q290R		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	313	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CGCCTGGTGCAGGATGCCTAC	0.647												
SEC61A1	29927	broad.mit.edu	37	3	127774574	127774574	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:127774574T>A	uc003ekb.2	+	4	384	c.200T>A	c.(199-201)GTG>GAG	p.V67E	SEC61A1_uc003ekc.2_Missense_Mutation_p.V14E|SEC61A1_uc003ekd.2_Intron	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	67	Lumenal (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						TGGATGAGAGTGATTCTAGCC	0.443												
COL6A6	131873	broad.mit.edu	37	3	130285959	130285959	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:130285959C>T	uc010htl.2	+	4	1727	c.1696C>T	c.(1696-1698)CGA>TGA	p.R566*		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	566	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						AGAGCACATCCGAGTTTATGC	0.468												
ASTE1	28990	broad.mit.edu	37	3	130737545	130737545	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:130737545G>A	uc003env.1	-	4	1760	c.1318C>T	c.(1318-1320)CGG>TGG	p.R440W	ASTE1_uc010htm.1_Missense_Mutation_p.R440W|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	440					DNA repair		nuclease activity				0						AGCATCTGCCGCCTCCTCAAG	0.433												
SLCO2A1	6578	broad.mit.edu	37	3	133673823	133673823	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:133673823C>T	uc003eqa.3	-	4	886	c.612G>A	c.(610-612)TCG>TCA	p.S204S	SLCO2A1_uc003eqb.3_Intron|SLCO2A1_uc011blv.1_Intron|SLCO2A1_uc010htw.1_Silent_p.S36S	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	204	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						TGTACAGGGGCGAGTTGCTGG	0.577												
AMOTL2	51421	broad.mit.edu	37	3	134080614	134080614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:134080614G>A	uc003eqf.2	-	6	1606	c.1489C>T	c.(1489-1491)CGA>TGA	p.R497*	AMOTL2_uc003eqg.1_Nonsense_Mutation_p.R439*|AMOTL2_uc003eqh.1_Nonsense_Mutation_p.R439*|AMOTL2_uc003eqe.1_Nonsense_Mutation_p.R64*	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	439	Potential.									large_intestine(1)	1						GCCATCTCTCGCTCCAGCTTC	0.617												
DZIP1L	199221	broad.mit.edu	37	3	137790505	137790505	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:137790505T>C	uc003erq.2	-	12	1958	c.1595A>G	c.(1594-1596)CAG>CGG	p.Q532R	DZIP1L_uc003err.1_Missense_Mutation_p.Q532R	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	532						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						CCCGTCTGGCTGGGACACCAC	0.552												
DBR1	51163	broad.mit.edu	37	3	137880857	137880857	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:137880857C>A	uc003erv.2	-	8	1645	c.1509G>T	c.(1507-1509)GAG>GAT	p.E503D	DBR1_uc003eru.2_Missense_Mutation_p.E452D|DBR1_uc003ert.2_Missense_Mutation_p.E271D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	503						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						TGGTTAAGTCCTCTCCATTCC	0.458												
PIK3CB	5291	broad.mit.edu	37	3	138474615	138474615	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:138474615A>G	uc011bmq.1	-	2	378	c.378T>C	c.(376-378)ATT>ATC	p.I126I		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	126					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						TAAGGACTCCAATTTTTGAGT	0.254												
CLSTN2	64084	broad.mit.edu	37	3	140178590	140178590	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:140178590C>A	uc003etn.2	+	7	1391	c.1201C>A	c.(1201-1203)CTC>ATC	p.L401I	CLSTN2_uc003etm.2_Missense_Mutation_p.L401I	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	401	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						GGAAACCATCCTCTGCAACTC	0.572										HNSCC(16;0.037)		
TFDP2	7029	broad.mit.edu	37	3	141682772	141682772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:141682772G>A	uc003eun.3	-	10	1145	c.766C>T	c.(766-768)CGA>TGA	p.R256*	TFDP2_uc003euk.3_Nonsense_Mutation_p.R169*|TFDP2_uc010hur.2_Nonsense_Mutation_p.R196*|TFDP2_uc003eul.3_Nonsense_Mutation_p.R196*|TFDP2_uc011bnf.1_Nonsense_Mutation_p.R159*|TFDP2_uc011bng.1_Nonsense_Mutation_p.R120*|TFDP2_uc003eum.3_Nonsense_Mutation_p.R196*	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	256	Dimerization (Potential).|DCB1.				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1						TCATTTTGTCGATTTCTCTGT	0.378												
TRPC1	7220	broad.mit.edu	37	3	142443437	142443437	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:142443437G>A	uc003evc.2	+	1	172	c.36G>A	c.(34-36)TCG>TCA	p.S12S	TRPC1_uc003evb.2_Silent_p.S12S	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	12	Cytoplasmic (Potential).				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						CGGACCTCTCGGGCGcctcct	0.577												
PLOD2	5352	broad.mit.edu	37	3	145799625	145799625	+	Missense_Mutation	SNP	G	G	A	rs142041189		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:145799625G>A	uc003evs.1	-	12	1764	c.1258C>T	c.(1258-1260)CGT>TGT	p.R420C	PLOD2_uc003evq.1_Missense_Mutation_p.R80C|PLOD2_uc011bnm.1_Missense_Mutation_p.R365C|PLOD2_uc003evr.1_Missense_Mutation_p.R420C	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	420					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	TTTCCATGACGAGTTACAAGA	0.373												
SIAH2	6478	broad.mit.edu	37	3	150460455	150460455	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:150460455G>A	uc003eyi.2	-	2	1075	c.448C>T	c.(448-450)CAC>TAC	p.H150Y		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	150	SIAH-type.|SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCCGTATGGTGCAGGGTCAGG	0.512												
GPR149	344758	broad.mit.edu	37	3	154145430	154145430	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:154145430A>C	uc003faa.2	-	2	1149	c.1049T>G	c.(1048-1050)CTT>CGT	p.L350R		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	350	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAGCAGGGTAAGTAGAAAGCT	0.527												
RARRES1	5918	broad.mit.edu	37	3	158415580	158415580	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:158415580G>A	uc003fci.2	-	6	843	c.772C>T	c.(772-774)CCT>TCT	p.P258S		NM_206963	NP_996846	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene	258	Extracellular (Potential).				negative regulation of cell proliferation	integral to membrane					0			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	GGTTTGCCAGGGTACCAGACC	0.393												
IFT80	57560	broad.mit.edu	37	3	160021774	160021774	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:160021774C>T	uc011boy.1	-	11	1513	c.1080G>A	c.(1078-1080)ACG>ACA	p.T360T	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Silent_p.T223T|IFT80_uc003fdd.1_Silent_p.T43T|IFT80_uc003fde.1_Silent_p.T223T	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	360						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCCAGTTCTTCGTGCTAAAAG	0.274												
NMD3	51068	broad.mit.edu	37	3	160958887	160958887	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:160958887C>T	uc003feb.1	+	10	926	c.807C>T	c.(805-807)AAC>AAT	p.N269N	NMD3_uc003fec.2_Silent_p.N269N|NMD3_uc003fed.1_Silent_p.N269N|NMD3_uc010hwh.2_Silent_p.N89N	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	269					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GAAATATGAACCAGATTTGTG	0.383												
BCHE	590	broad.mit.edu	37	3	165548207	165548207	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:165548207C>A	uc003fem.3	-	2	775	c.615G>T	c.(613-615)TGG>TGT	p.W205C	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	205					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTTTTTGAACCCACTGAAGAG	0.448												
NLGN1	22871	broad.mit.edu	37	3	173322630	173322630	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:173322630T>A	uc003fio.1	+	3	665	c.242T>A	c.(241-243)CTT>CAT	p.L81H	NLGN1_uc010hww.1_Missense_Mutation_p.L81H|NLGN1_uc003fip.1_Missense_Mutation_p.L81H	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	81	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATTCAATTTCTTGGGGTTCCA	0.458												
ABCC5	10057	broad.mit.edu	37	3	183665245	183665245	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:183665245G>A	uc003fmg.2	-	23	3446	c.3281C>T	c.(3280-3282)GCG>GTG	p.A1094V	ABCC5_uc011bqt.1_Missense_Mutation_p.A622V|ABCC5_uc010hxl.2_Missense_Mutation_p.A1051V	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1094	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACCGCATCGCACACGTAAA	0.527												
DVL3	1857	broad.mit.edu	37	3	183888136	183888136	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:183888136G>A	uc003fms.2	+	15	1884	c.1744G>A	c.(1744-1746)GGC>AGC	p.G582S	DVL3_uc011bqw.1_Missense_Mutation_p.G565S|DVL3_uc003fmt.2_Missense_Mutation_p.G253S|DVL3_uc003fmu.2_Missense_Mutation_p.G414S	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	582					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAACCGTAGCGGCAGCGATCG	0.701												
ABCF3	55324	broad.mit.edu	37	3	183906045	183906045	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:183906045G>A	uc003fmz.2	+	7	819	c.686G>A	c.(685-687)CGG>CAG	p.R229Q	ABCF3_uc003fna.2_Missense_Mutation_p.R223Q|ABCF3_uc003fnb.2_5'Flank	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	229	ABC transporter 1.						ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGGAGTCTGCGGGTTCCAGCC	0.612												
ECE2	9718	broad.mit.edu	37	3	184009927	184009927	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:184009927C>T	uc003fni.3	+	19	2591	c.2553C>T	c.(2551-2553)CGC>CGT	p.R851R	ECE2_uc003fnl.3_Silent_p.R779R|ECE2_uc003fnm.3_Silent_p.R733R|ECE2_uc003fnk.3_Silent_p.R704R	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	851	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGCTTCCGCGTGCTGGGCA	0.672												
EIF4G1	1981	broad.mit.edu	37	3	184042726	184042726	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:184042726C>T	uc003fnp.2	+	18	2878	c.2680C>T	c.(2680-2682)CGC>TGC	p.R894C	EIF4G1_uc003fno.1_Missense_Mutation_p.R835C|EIF4G1_uc010hxw.1_Missense_Mutation_p.R730C|EIF4G1_uc003fnt.2_Missense_Mutation_p.R605C|EIF4G1_uc003fnq.2_Missense_Mutation_p.R807C|EIF4G1_uc003fnr.2_Missense_Mutation_p.R730C|EIF4G1_uc010hxx.2_Missense_Mutation_p.R901C|EIF4G1_uc003fns.2_Missense_Mutation_p.R854C|EIF4G1_uc010hxy.2_Missense_Mutation_p.R901C|EIF4G1_uc003fnv.3_Missense_Mutation_p.R895C|EIF4G1_uc003fnu.3_Missense_Mutation_p.R894C|EIF4G1_uc003fnw.2_Missense_Mutation_p.R901C|EIF4G1_uc003fnx.2_Missense_Mutation_p.R699C|EIF4G1_uc003fny.3_Missense_Mutation_p.R698C|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	894	eIF3/EIF4A-binding.			R -> C (in Ref. 1; BAA02185).	insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCCCGGCGGCGCTCTTTAGG	0.478												
EIF4G1	1981	broad.mit.edu	37	3	184049322	184049322	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:184049322G>T	uc003fnp.2	+	30	4521	c.4323G>T	c.(4321-4323)GAG>GAT	p.E1441D	EIF4G1_uc003fnt.2_Missense_Mutation_p.E1152D|EIF4G1_uc003fnq.2_Missense_Mutation_p.E1354D|EIF4G1_uc003fnr.2_Missense_Mutation_p.E1277D|EIF4G1_uc010hxx.2_Missense_Mutation_p.E1448D|EIF4G1_uc003fns.2_Missense_Mutation_p.E1401D|EIF4G1_uc010hxy.2_Missense_Mutation_p.E1448D|EIF4G1_uc003fnv.3_Missense_Mutation_p.E1442D|EIF4G1_uc003fnu.3_Missense_Mutation_p.E1441D|EIF4G1_uc003fnw.2_Missense_Mutation_p.E1448D|EIF4G1_uc003fnx.2_Missense_Mutation_p.E1246D|EIF4G1_uc003fny.3_Missense_Mutation_p.E1245D|EIF4G1_uc003foa.2_Missense_Mutation_p.E113D	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1441	W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCCCTCCGAGGAGCTGAACA	0.567												
FAM131A	131408	broad.mit.edu	37	3	184060628	184060628	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:184060628T>C	uc003fog.2	+	2	1876	c.512T>C	c.(511-513)TTT>TCT	p.F171S	FAM131A_uc003fob.1_Missense_Mutation_p.F79S|FAM131A_uc003foc.2_Missense_Mutation_p.F117S|FAM131A_uc003foe.2_Missense_Mutation_p.F117S	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	171						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)			GATGAGGACTTTGCTGGGGGA	0.567												
IGF2BP2	10644	broad.mit.edu	37	3	185390367	185390367	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:185390367G>A	uc003fpo.2	-	10	1241	c.1162C>T	c.(1162-1164)CGC>TGC	p.R388C	IGF2BP2_uc010hyi.2_Missense_Mutation_p.R331C|IGF2BP2_uc010hyj.2_Missense_Mutation_p.R325C|IGF2BP2_uc010hyk.2_Missense_Mutation_p.R252C|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Missense_Mutation_p.R393C	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	388					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGAGCTCCGCGGGGCCCTGCT	0.597												
LPP	4026	broad.mit.edu	37	3	188327501	188327501	+	Missense_Mutation	SNP	C	C	T	rs140900775	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:188327501C>T	uc003frs.1	+	6	1228	c.982C>T	c.(982-984)CGG>TGG	p.R328W	LPP_uc011bsg.1_Intron|LPP_uc011bsi.1_Missense_Mutation_p.R328W|LPP_uc003frt.2_Missense_Mutation_p.R328W|LPP_uc011bsj.1_Missense_Mutation_p.R165W	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	328	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	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)		TACCTGGAAACGGGAACCAGG	0.522			T	HMGA2|MLL|C12orf9	lipoma|leukemia							
LEPREL1	55214	broad.mit.edu	37	3	189681886	189681886	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:189681886G>A	uc011bsk.1	-	14	2283	c.1895C>T	c.(1894-1896)GCC>GTC	p.A632V	LEPREL1_uc003fsg.2_Missense_Mutation_p.A451V	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	632	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTTTATAGAGGCCTGAGAAAG	0.438												
MUC4	4585	broad.mit.edu	37	3	195474185	195474185	+	Silent	SNP	G	G	A	rs138397680	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:195474185G>A	uc011bto.1	-	26	16177	c.15717C>T	c.(15715-15717)GAC>GAT	p.D5239D	MUC4_uc010hzq.2_Silent_p.D224D|MUC4_uc003fuz.2_Silent_p.D965D|MUC4_uc003fva.2_Silent_p.D847D|MUC4_uc003fvb.2_Silent_p.D883D|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.D883D|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.D847D|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.D931D|MUC4_uc011bti.1_Silent_p.D931D|MUC4_uc011btj.1_Silent_p.D1108D|MUC4_uc011btk.1_Silent_p.D847D|MUC4_uc011btl.1_Silent_p.D876D|MUC4_uc011btm.1_Silent_p.D1056D|MUC4_uc011btn.1_Silent_p.D847D|MUC4_uc003fvo.2_Silent_p.D1131D|MUC4_uc003fvp.2_Silent_p.D1080D	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	2124					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)		CGAAGAACGCGTCGAGTTTCA	0.632												
LRRC33	375387	broad.mit.edu	37	3	196387312	196387312	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:196387312G>A	uc003fwv.2	+	3	902	c.798G>A	c.(796-798)CCG>CCA	p.P266P		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	266	Extracellular (Potential).|LRR 9.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TGTTCTTCCCGCTGCTGCCCC	0.622												
NCBP2	22916	broad.mit.edu	37	3	196664509	196664509	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:196664509G>A	uc003fxd.1	-	3	361	c.271C>T	c.(271-273)CGC>TGC	p.R91C	NCBP2_uc003fxb.1_Missense_Mutation_p.R21C|NCBP2_uc011btz.1_Missense_Mutation_p.R73C|NCBP2_uc003fxc.1_RNA|NCBP2_uc003fxe.1_Intron|NCBP2_uc003fxf.2_3'UTR	NM_007362	NP_031388	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	91	RRM.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding				0	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		GCATCTGCGCGTGAGTAATAT	0.443												
NCBP2	22916	broad.mit.edu	37	3	196666260	196666260	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:196666260G>A	uc003fxd.1	-	2	212	c.122C>T	c.(121-123)ACG>ATG	p.T41M	NCBP2_uc003fxb.1_Translation_Start_Site|NCBP2_uc011btz.1_Missense_Mutation_p.T23M|NCBP2_uc003fxc.1_RNA|NCBP2_uc003fxe.1_Intron|NCBP2_uc003fxf.2_Missense_Mutation_p.T41M	NM_007362	NP_031388	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	41	RRM.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding				0	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		AACATATAACGTACAGCTTTT	0.323												
KIAA0226	9711	broad.mit.edu	37	3	197408196	197408196	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:197408196T>C	uc003fyc.2	-	16	2417	c.2234A>G	c.(2233-2235)TAC>TGC	p.Y745C	KIAA0226_uc003fyd.3_Missense_Mutation_p.Y700C|KIAA0226_uc003fye.1_Missense_Mutation_p.Y477C	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	745					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTGGCAGAAGTACTTGCCCAG	0.527												
ZNF718	255403	broad.mit.edu	37	4	155539	155539	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:155539C>T	uc003fzt.3	+	8	1197	c.1064C>T	c.(1063-1065)ACG>ATG	p.T355M	ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Nonsense_Mutation_p.R135*	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	zinc finger protein 718	355	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ACAACTCTTACGACACATAAG	0.378												
GAK	2580	broad.mit.edu	37	4	860756	860756	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:860756G>A	uc003gbm.3	-	21	3059	c.2860C>T	c.(2860-2862)CCC>TCC	p.P954S	GAK_uc003gbn.3_Missense_Mutation_p.P875S|GAK_uc010ibk.1_Missense_Mutation_p.P848S|GAK_uc010ibi.2_Missense_Mutation_p.P135S|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.P818S	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	954					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		GCGGCAGGGGGCCCTCCTCTT	0.642												
SLC26A1	10861	broad.mit.edu	37	4	983845	983845	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:983845C>T	uc003gcb.2	-	4	1260	c.882G>A	c.(880-882)ACG>ACA	p.T294T	SLC26A1_uc003gbx.2_Intron|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Silent_p.T294T	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	294	Helical; (Potential).					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCAGCAGCTCCGTGGGCAGCG	0.667												
FGFRL1	53834	broad.mit.edu	37	4	1018877	1018877	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:1018877G>A	uc003gce.2	+	7	1418	c.1257G>A	c.(1255-1257)CCG>CCA	p.P419P	FGFRL1_uc003gcf.2_Silent_p.P419P|FGFRL1_uc003gcg.2_Silent_p.P419P|FGFRL1_uc010ibo.2_Silent_p.P419P	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	419	Cytoplasmic (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCACCGCCCGCCGGGGACGG	0.721												
FAM53A	152877	broad.mit.edu	37	4	1643124	1643124	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:1643124G>A	uc011bve.1	-	5	1291	c.1093C>T	c.(1093-1095)CGC>TGC	p.R365C	FAM53A_uc010ibw.2_3'UTR	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	365						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CTGCTCCTGCGGGAGCCATCA	0.682												
FAM53A	152877	broad.mit.edu	37	4	1656811	1656811	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:1656811C>T	uc011bve.1	-	4	974	c.776G>A	c.(775-777)CGC>CAC	p.R259H	FAM53A_uc010ibw.2_Missense_Mutation_p.R259H	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	259						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			AGGCTGTGAGCGGCACCGGAG	0.706												
FGFR3	2261	broad.mit.edu	37	4	1806119	1806119	+	Missense_Mutation	SNP	G	G	A	rs28931614		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:1806119G>A	uc003gdr.3	+	9	1394	c.1138G>A	c.(1138-1140)GGG>AGG	p.G380R	FGFR3_uc003gdu.2_Missense_Mutation_p.G382R|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.G380R	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	380	Helical; (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.G380R(15)|p.G380E(1)		urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTCAGCTACGGGGTGGGCTT	0.672		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome			
ZFYVE28	57732	broad.mit.edu	37	4	2307175	2307175	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:2307175C>T	uc003gex.1	-	8	1211	c.892G>A	c.(892-894)GCA>ACA	p.A298T	ZFYVE28_uc011bvk.1_Missense_Mutation_p.A228T|ZFYVE28_uc011bvl.1_Missense_Mutation_p.A268T|ZFYVE28_uc003gew.1_Missense_Mutation_p.A184T	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	298					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						TGCACGTCTGCGCGGATGGGG	0.637												
TNIP2	79155	broad.mit.edu	37	4	2749545	2749545	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:2749545C>T	uc003gfg.2	-	2	491	c.404G>A	c.(403-405)CGC>CAC	p.R135H	TNIP2_uc003gff.2_Missense_Mutation_p.R28H|TNIP2_uc003gfh.2_Missense_Mutation_p.R135H	NM_024309	NP_077285	Q8NFZ5	TNIP2_HUMAN	A20-binding inhibitor of NF-kappaB activation 2	135						cytosol	protein binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCCCGGGCGCGCTCCCCTTC	0.642												
ADRA2C	152	broad.mit.edu	37	4	3768788	3768788	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:3768788C>T	uc003ghm.2	+	1	493	c.455C>T	c.(454-456)TCG>TTG	p.S152L	ADRA2C_uc010icx.2_Missense_Mutation_p.S152L	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	152	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CGCTACTGGTCGGTGACGCAG	0.637												
STK32B	55351	broad.mit.edu	37	4	5170044	5170044	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:5170044C>T	uc003gih.1	+	3	191	c.127C>T	c.(127-129)CGA>TGA	p.R43*	STK32B_uc010ida.1_5'UTR	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	43	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						CGTGCAGAAGCGAGACACTAA	0.483												
MAN2B2	23324	broad.mit.edu	37	4	6578431	6578431	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:6578431T>A	uc003gjf.1	+	2	301	c.265T>A	c.(265-267)TCG>ACG	p.S89T	MAN2B2_uc003gje.1_Missense_Mutation_p.S89T|MAN2B2_uc011bwf.1_Missense_Mutation_p.S89T	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	89					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						TGGCGTCGCCTCGGACCAGCA	0.587												
MAN2B2	23324	broad.mit.edu	37	4	6598853	6598853	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:6598853C>A	uc003gjf.1	+	8	1107	c.1071C>A	c.(1069-1071)GCC>GCA	p.A357A	MAN2B2_uc003gje.1_Silent_p.A357A|MAN2B2_uc011bwf.1_Silent_p.A306A	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	357					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						CATTCCAGGCCTGGACGGGCT	0.607												
ABLIM2	84448	broad.mit.edu	37	4	8098833	8098833	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:8098833C>T	uc003gko.2	-	3	474	c.331G>A	c.(331-333)GTC>ATC	p.V111I	ABLIM2_uc003gkj.3_Missense_Mutation_p.V111I|ABLIM2_uc003gkm.3_Missense_Mutation_p.V111I|ABLIM2_uc003gkp.2_Missense_Mutation_p.V111I|ABLIM2_uc003gkq.2_Missense_Mutation_p.V111I|ABLIM2_uc003gkr.2_Missense_Mutation_p.V111I|ABLIM2_uc003gks.3_Missense_Mutation_p.V111I|ABLIM2_uc011bwl.1_Missense_Mutation_p.V116I	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	111	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3						CACCGGCAGACGGCACACACG	0.502												
PCDH7	5099	broad.mit.edu	37	4	30724271	30724271	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:30724271C>T	uc003gsk.1	+	1	2235	c.1227C>T	c.(1225-1227)AAC>AAT	p.N409N	PCDH7_uc011bxw.1_Silent_p.N362N|PCDH7_uc011bxx.1_Silent_p.N409N	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	409	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						AAGACGAGAACGACAACGTGC	0.632												
PCDH7	5099	broad.mit.edu	37	4	30724750	30724750	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:30724750A>G	uc003gsk.1	+	1	2714	c.1706A>G	c.(1705-1707)GAG>GGG	p.E569G	PCDH7_uc011bxw.1_Missense_Mutation_p.E522G|PCDH7_uc011bxx.1_Missense_Mutation_p.E569G	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	569	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						AAGAACGCCGAGATCGCCTAC	0.607												
FAM114A1	92689	broad.mit.edu	37	4	38916595	38916595	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:38916595G>A	uc003gtn.2	+	8	1022	c.846G>A	c.(844-846)ACG>ACA	p.T282T	FAM114A1_uc011byh.1_Silent_p.T75T	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	hypothetical protein LOC92689	282						cytoplasm				ovary(1)	1						AGCAGCTCACGATGGAGAGAA	0.463												
RBM47	54502	broad.mit.edu	37	4	40428019	40428019	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:40428019C>T	uc003gvc.2	-	7	2394	c.1684G>A	c.(1684-1686)GCG>ACG	p.A562T	RBM47_uc003gvd.2_Missense_Mutation_p.A493T|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.A524T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	562	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(3)	3						ATGGCGGCCGCGGCTGCCGCG	0.592												
GRXCR1	389207	broad.mit.edu	37	4	43032508	43032508	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:43032508C>T	uc003gwt.2	+	4	824	c.824C>T	c.(823-825)ACG>ATG	p.T275M		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	275					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						CTGAAGTGTACGGCTTGCAAT	0.443												
GABRA2	2555	broad.mit.edu	37	4	46334689	46334689	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:46334689A>G	uc003gxc.3	-	3	871	c.198T>C	c.(196-198)ACT>ACC	p.T66T	GABRA2_uc010igc.2_Silent_p.T66T|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Silent_p.T66T	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	66	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAAGACTTCAGTAATACTGT	0.353												
KDR	3791	broad.mit.edu	37	4	55964865	55964865	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:55964865C>T	uc003has.2	-	16	2674	c.2372G>A	c.(2371-2373)CGG>CAG	p.R791Q	KDR_uc003hat.1_Missense_Mutation_p.R791Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	791	Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTTTTACCCGCTTAACGGT	0.418			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)		
EPHA5	2044	broad.mit.edu	37	4	66467465	66467465	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:66467465G>A	uc003hcy.2	-	3	997	c.804C>T	c.(802-804)ACC>ACT	p.T268T	EPHA5_uc003hcx.2_Silent_p.T199T|EPHA5_uc003hcz.2_Silent_p.T268T|EPHA5_uc011cah.1_Silent_p.T268T|EPHA5_uc011cai.1_Silent_p.T268T|EPHA5_uc003hda.2_Silent_p.T268T	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	268	Extracellular (Potential).|Cys-rich.				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						GAGGTTCATCGGTCACAGAAT	0.532										TSP Lung(17;0.13)		
ADAMTS3	9508	broad.mit.edu	37	4	73176817	73176817	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:73176817G>A	uc003hgk.1	-	14	2040	c.2003C>T	c.(2002-2004)ACG>ATG	p.T668M	ADAMTS3_uc003hgl.2_Missense_Mutation_p.T9M	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	668	Cys-rich.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAACAGTGCGTTCCATCATG	0.428												
AFM	173	broad.mit.edu	37	4	74357673	74357673	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:74357673C>T	uc003hhb.2	+	8	959	c.928C>T	c.(928-930)CGC>TGC	p.R310C		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	310	Albumin 2.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATACCAGAGCGCGGCCAGTG	0.358												
MTHFD2L	441024	broad.mit.edu	37	4	75040303	75040303	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:75040303T>G	uc003hhn.1	+	5	568	c.50T>G	c.(49-51)GTT>GGT	p.V17G	MTHFD2L_uc011cbj.1_Missense_Mutation_p.V17G|MTHFD2L_uc011cbk.1_Missense_Mutation_p.V75G|MTHFD2L_uc003hho.2_RNA|MTHFD2L_uc003hhs.2_RNA	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase 2-like	17					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			ovary(1)|central_nervous_system(1)	2			all cancers(17;0.0101)|Lung(101;0.196)			GAATCATGGGTTTCCCTTGGA	0.418												
CXCL9	4283	broad.mit.edu	37	4	76924826	76924826	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:76924826A>G	uc003hjh.1	-	4	342	c.303T>C	c.(301-303)AAT>AAC	p.N101N		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	small inducible cytokine B9 precursor	101					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTTTTTTCCCATTCTTTTGCT	0.353												
NAA11	84779	broad.mit.edu	37	4	80246788	80246788	+	Silent	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:80246788G>T	uc003hlt.3	-	1	384	c.244C>A	c.(244-246)CGG>AGG	p.R82R		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	alpha-N-acetyltransferase 1B	82	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2						CCGAGGCGCCGGTGTGAACGC	0.562												
GK2	2712	broad.mit.edu	37	4	80328865	80328865	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:80328865C>T	uc003hlu.2	-	1	508	c.490G>A	c.(490-492)GTC>ATC	p.V164I		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	164					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						GCCTTTTGGACGTTTCTCACA	0.438												
SEC31A	22872	broad.mit.edu	37	4	83793118	83793118	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:83793118C>T	uc003hnf.2	-	7	925	c.761G>A	c.(760-762)CGT>CAT	p.R254H	SEC31A_uc003hne.2_5'Flank|SEC31A_uc011ccl.1_Missense_Mutation_p.R254H|SEC31A_uc003hnl.2_Missense_Mutation_p.R254H|SEC31A_uc003hng.2_Missense_Mutation_p.R254H|SEC31A_uc003hnh.2_Missense_Mutation_p.R254H|SEC31A_uc003hni.2_Missense_Mutation_p.R254H|SEC31A_uc003hnj.2_Missense_Mutation_p.R254H|SEC31A_uc011ccm.1_Missense_Mutation_p.R249H|SEC31A_uc011ccn.1_Missense_Mutation_p.R254H|SEC31A_uc003hnk.2_Missense_Mutation_p.R254H|SEC31A_uc003hnm.2_Missense_Mutation_p.R254H|SEC31A_uc003hnn.1_Missense_Mutation_p.R254H|SEC31A_uc003hno.2_Missense_Mutation_p.R254H	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	254	WD 4.|Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				TTCCAGGACACGAAGTGGAGA	0.408												
HELQ	113510	broad.mit.edu	37	4	84374799	84374799	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:84374799C>A	uc003hom.2	-	2	776	c.597G>T	c.(595-597)CAG>CAT	p.Q199H	HELQ_uc010ikb.2_Missense_Mutation_p.Q199H|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Missense_Mutation_p.Q93H|HELQ_uc003hoo.1_Missense_Mutation_p.Q162H|HELQ_uc003hop.1_Missense_Mutation_p.Q93H|HELQ_uc003hoq.1_Missense_Mutation_p.Q199H|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	199							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						AGTATATAGCCTGTGAGGAAG	0.388								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
WDFY3	23001	broad.mit.edu	37	4	85762336	85762336	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:85762336T>C	uc003hpd.2	-	6	793	c.385A>G	c.(385-387)ACA>GCA	p.T129A	WDFY3_uc003hpf.2_Missense_Mutation_p.T129A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	129						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAATTAATTGTCGTTAGAAGC	0.383												
GPRIN3	285513	broad.mit.edu	37	4	90170221	90170221	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:90170221G>A	uc003hsm.1	-	2	1560	c.1041C>T	c.(1039-1041)AGC>AGT	p.S347S		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	347										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGAGCACGGCTTTCCTTCA	0.592												
UNC5C	8633	broad.mit.edu	37	4	96222780	96222780	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:96222780C>T	uc003htp.1	-	3	621	c.467G>A	c.(466-468)CGG>CAG	p.R156Q	UNC5C_uc010ilc.1_Missense_Mutation_p.R156Q|UNC5C_uc003htq.2_Missense_Mutation_p.R156Q	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	156	Extracellular (Potential).|Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATACGCCTTCCGGCTCTTTGT	0.498												
ADH6	130	broad.mit.edu	37	4	100125396	100125396	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:100125396G>A	uc003huo.2	-	9	1202	c.1108C>T	c.(1108-1110)CGC>TGC	p.R370C	uc003hum.1_Intron|ADH6_uc011cef.1_Missense_Mutation_p.R161C	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 1	9					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	AGGATACAGCGGATACTGAAA	0.323												
ADH1C	126	broad.mit.edu	37	4	100264115	100264115	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:100264115G>T	uc003huu.2	-	8	750	c.665C>A	c.(664-666)GCT>GAT	p.A222D		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	222					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GATGTCCACAGCAATGATTCT	0.502									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			
MTTP	4547	broad.mit.edu	37	4	100522853	100522853	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:100522853T>C	uc003hvc.3	+	11	1582	c.1326T>C	c.(1324-1326)AAT>AAC	p.N442N	MTTP_uc011cej.1_Silent_p.N469N	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	442	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TGTGTCAGAATGAAGGCTGCA	0.383												
ANK2	287	broad.mit.edu	37	4	114274458	114274458	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:114274458G>T	uc003ibe.3	+	38	4784	c.4684G>T	c.(4684-4686)GTG>TTG	p.V1562L	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_Missense_Mutation_p.V1577L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1529					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)		CTTAGAGAAAGTGAATGAAAT	0.453												
CAMK2D	817	broad.mit.edu	37	4	114436244	114436244	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:114436244A>G	uc003ibi.2	-	10	1659	c.800T>C	c.(799-801)CTG>CCG	p.L267P	CAMK2D_uc003ibj.2_Missense_Mutation_p.L267P|CAMK2D_uc003ibk.2_Missense_Mutation_p.L267P|CAMK2D_uc003ibo.3_Missense_Mutation_p.L267P|CAMK2D_uc003ibm.2_Missense_Mutation_p.L267P|CAMK2D_uc003ibn.2_Missense_Mutation_p.L267P|CAMK2D_uc003ibl.2_Missense_Mutation_p.L267P	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	267	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TGGGTGCTTCAGTGCCTCTGA	0.393												
SEC24D	9871	broad.mit.edu	37	4	119662116	119662116	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:119662116A>G	uc003ici.3	-	16	2344	c.2072T>C	c.(2071-2073)ATG>ACG	p.M691T	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Missense_Mutation_p.M692T|SEC24D_uc003icl.2_RNA	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	691					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						ACGAACCCTCATAATAGCATC	0.308												
ANXA5	308	broad.mit.edu	37	4	122599047	122599047	+	Splice_Site	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:122599047A>G	uc003idu.3	-	7	601	c.531_splice	c.e7+1	p.Q177_splice	ANXA5_uc003idv.3_Splice_Site_p.Q177_splice|ANXA5_uc003idw.3_Splice_Site|ANXA5_uc010inm.2_Splice_Site_p.Q177_splice|ANXA5_uc010inn.2_Splice_Site_p.Q117_splice|ANXA5_uc010ino.2_Splice_Site_p.Q77_splice	NM_001154	NP_001145	P08758	ANXA5_HUMAN	annexin 5						anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			ovary(1)	1						GGTGTCACTCACCTGAGCATC	0.358												
SPATA5	166378	broad.mit.edu	37	4	123855262	123855262	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:123855262T>C	uc003iez.3	+	5	589	c.516T>C	c.(514-516)ATT>ATC	p.I172I	SPATA5_uc003iey.2_Silent_p.I171I	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	172					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						ATGGCAAGATTGTTTTACCAG	0.343												
FAT4	79633	broad.mit.edu	37	4	126372220	126372220	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:126372220A>C	uc003ifj.3	+	9	10049	c.10049A>C	c.(10048-10050)AAG>ACG	p.K3350T	FAT4_uc011cgp.1_Missense_Mutation_p.K1648T|FAT4_uc003ifi.1_Missense_Mutation_p.K828T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3350	Cadherin 32.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAGATCAATAAGAAGACTGGA	0.413												
FAT4	79633	broad.mit.edu	37	4	126408578	126408578	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:126408578G>A	uc003ifj.3	+	16	12895	c.12895G>A	c.(12895-12897)GTT>ATT	p.V4299I	FAT4_uc011cgp.1_Missense_Mutation_p.V2540I|FAT4_uc003ifi.1_Missense_Mutation_p.V1777I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4299	Laminin G-like 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGAAGTATATGTTGCAGACGG	0.358												
PLK4	10733	broad.mit.edu	37	4	128816110	128816110	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:128816110G>T	uc003ifo.2	+	14	2810	c.2565G>T	c.(2563-2565)ATG>ATT	p.M855I	PLK4_uc011cgs.1_Missense_Mutation_p.M823I|PLK4_uc011cgt.1_Missense_Mutation_p.M814I	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	855					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						CTTTGTAGATGGTTACAAATG	0.333												
PCDH10	57575	broad.mit.edu	37	4	134072289	134072289	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:134072289G>T	uc003iha.2	+	1	1820	c.994G>T	c.(994-996)GAC>TAC	p.D332Y	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D332Y	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	332	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GCAAGCCAAGGACCTGGGCCC	0.592												
KIAA0922	23240	broad.mit.edu	37	4	154544213	154544213	+	Silent	SNP	C	C	T	rs140734056	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:154544213C>T	uc003inm.3	+	29	4072	c.4020C>T	c.(4018-4020)GAC>GAT	p.D1340D	KIAA0922_uc010ipp.2_Silent_p.D1341D|KIAA0922_uc010ipq.2_Silent_p.D1109D	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1340	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				CCATGGTGGACGCCCAGCACT	0.682												
RBM46	166863	broad.mit.edu	37	4	155749137	155749137	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:155749137C>A	uc003ioo.2	+	5	1693	c.1520C>A	c.(1519-1521)CCT>CAT	p.P507H	RBM46_uc011cim.1_3'UTR|RBM46_uc003iop.1_3'UTR	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	507							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				CCAGGCTATCCTTTGTCACCA	0.443												
GRIA2	2891	broad.mit.edu	37	4	158254507	158254507	+	Splice_Site	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:158254507T>C	uc003ipm.3	+	8	1614	c.1155_splice	c.e8+2	p.K385_splice	GRIA2_uc011cit.1_Splice_Site_p.K338_splice|GRIA2_uc003ipl.3_Splice_Site_p.K385_splice|GRIA2_uc003ipk.3_Splice_Site_p.K338_splice|GRIA2_uc010iqh.1_Splice_Site	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2						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)	CCCCGGAAGGTAAATCCTTAG	0.393												
ETFDH	2110	broad.mit.edu	37	4	159601673	159601673	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:159601673C>T	uc003iqb.2	+	2	421	c.89C>T	c.(88-90)GCT>GTT	p.A30V	ETFDH_uc011cjg.1_Intron|ETFDH_uc010iqr.2_Intron|ETFDH_uc011cjh.1_5'Flank|ETFDH_uc010iqs.2_5'Flank	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	30					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CCTCTATGTGCTACAAGATGG	0.323												
TLL1	7092	broad.mit.edu	37	4	166964429	166964429	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:166964429T>C	uc003irh.1	+	12	2029	c.1382T>C	c.(1381-1383)ATC>ACC	p.I461T	TLL1_uc011cjn.1_Missense_Mutation_p.I461T|TLL1_uc011cjo.1_Missense_Mutation_p.I285T	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	461	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCTTCAGCGATCTGTGGAGGT	0.388												
GPM6A	2823	broad.mit.edu	37	4	176573102	176573102	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:176573102G>A	uc003iuf.2	-	4	1228	c.424C>T	c.(424-426)CTG>TTG	p.L142L	GPM6A_uc011ckj.1_Silent_p.L135L|GPM6A_uc003iug.2_Silent_p.L142L|GPM6A_uc003iuh.2_Silent_p.L131L	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	142	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)		GTGACTCCCAGCCAGGCCAAC	0.418												
ODZ3	55714	broad.mit.edu	37	4	183721333	183721333	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:183721333C>T	uc003ivd.1	+	27	7966	c.7929C>T	c.(7927-7929)GGC>GGT	p.G2643G		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2643	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGCGCGACGGCGAGGAGGGCG	0.741												
RWDD4A	201965	broad.mit.edu	37	4	184570625	184570625	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:184570625G>A	uc003ivt.1	-	5	686	c.460C>T	c.(460-462)CGT>TGT	p.R154C	RWDD4A_uc003ivu.1_RNA|RWDD4A_uc003ivv.1_Missense_Mutation_p.R91C|RWDD4A_uc011ckl.1_RNA	NM_152682	NP_689895	Q6NW29	RWDD4_HUMAN	RWD domain containing 4A	154											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;7.35e-27)|Epithelial(43;1.49e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.76e-10)|GBM - Glioblastoma multiforme(59;5.54e-06)|Colorectal(24;7.92e-06)|STAD - Stomach adenocarcinoma(60;2.35e-05)|COAD - Colon adenocarcinoma(29;6.26e-05)|LUSC - Lung squamous cell carcinoma(40;0.00935)|READ - Rectum adenocarcinoma(43;0.166)		GCCAGCTTACGCTTCTGGGCT	0.249												
CCDC111	201973	broad.mit.edu	37	4	185606594	185606594	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:185606594C>A	uc003iwk.2	+	10	1561	c.1128C>A	c.(1126-1128)CCC>CCA	p.P376P	CCDC111_uc003iwj.2_Silent_p.P375P|CCDC111_uc003iwl.2_Silent_p.P376P|CCDC111_uc003iwm.2_Silent_p.P247P|CCDC111_uc003iwn.2_Silent_p.P116P	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	coiled-coil domain containing 111	376					DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		AGTGTTCTCCCTATCCTGAAG	0.313												
UFSP2	55325	broad.mit.edu	37	4	186336496	186336496	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:186336496C>T	uc003ixo.2	-	6	614	c.497G>A	c.(496-498)CGT>CAT	p.R166H	UFSP2_uc003ixn.2_Missense_Mutation_p.R56H|UFSP2_uc003ixq.2_Missense_Mutation_p.R56H|UFSP2_uc003ixp.2_RNA	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	166						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CAGGAGTTTACGAACTCTGTG	0.318												
FAM149A	25854	broad.mit.edu	37	4	187086561	187086561	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:187086561G>A	uc003iyt.3	+	11	1686	c.1107G>A	c.(1105-1107)CCG>CCA	p.P369P	FAM149A_uc011cla.1_Silent_p.P369P|FAM149A_uc003iyu.3_Silent_p.P369P|FAM149A_uc010isl.2_Silent_p.P369P|FAM149A_uc011clb.1_Silent_p.P369P	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	660										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GGTTCCCCCCGCTAGTCACGG	0.537												
TUBB4Q	56604	broad.mit.edu	37	4	190903937	190903937	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:190903937A>G	uc011clg.1	-	4	1046	c.1043T>C	c.(1042-1044)GTA>GCA	p.V348A		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					'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)		GGCTGTTTTTACGTTGTTGGG	0.507												
EXOC3	11336	broad.mit.edu	37	5	453621	453621	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:453621G>A	uc003jba.2	+	4	629	c.501G>A	c.(499-501)ACG>ACA	p.T167T		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	178					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGGGAACACGCGTGACATGA	0.602												
SLC12A7	10723	broad.mit.edu	37	5	1065523	1065523	+	Missense_Mutation	SNP	C	C	T	rs139369204		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:1065523C>T	uc003jbu.2	-	18	2378	c.2312G>A	c.(2311-2313)CGG>CAG	p.R771Q		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	771					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CATGCCATCCCGCAGGCTGGA	0.622												
TERT	7015	broad.mit.edu	37	5	1253879	1253879	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:1253879C>T	uc003jcb.1	-	16	3421	c.3363G>A	c.(3361-3363)CCG>CCA	p.P1121P	TERT_uc003jbz.1_Silent_p.P317P|TERT_uc003jca.1_Silent_p.P1109P|TERT_uc003jcc.1_Silent_p.P1058P|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	1121	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGGGCAGTGCCGGGTTGGCTG	0.667									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic			
LPCAT1	79888	broad.mit.edu	37	5	1467000	1467000	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:1467000G>A	uc003jcm.2	-	13	1401	c.1284C>T	c.(1282-1284)TAC>TAT	p.Y428Y	LPCAT1_uc003jcl.2_Silent_p.Y2Y	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	428	Lumenal (Potential).				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CTTGCGCTCCGTACATCTGCA	0.667												
ADAMTS16	170690	broad.mit.edu	37	5	5186298	5186298	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:5186298C>T	uc003jdl.2	+	5	1035	c.897C>T	c.(895-897)GAC>GAT	p.D299D	ADAMTS16_uc003jdk.1_Silent_p.D299D|ADAMTS16_uc003jdj.1_Silent_p.D299D	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	299	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TGGTGGTCGACAAAAAGATGA	0.468												
PAPD7	11044	broad.mit.edu	37	5	6755014	6755014	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:6755014C>A	uc003jdx.1	+	13	1714	c.1585C>A	c.(1585-1587)CAC>AAC	p.H529N	PAPD7_uc011cmn.1_Missense_Mutation_p.H519N|PAPD7_uc010itl.1_Missense_Mutation_p.H349N	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	529					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						GAGGAAAAAACACACACACAC	0.657												
TRIO	7204	broad.mit.edu	37	5	14387858	14387858	+	Silent	SNP	A	A	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:14387858A>T	uc003jff.2	+	23	3789	c.3783A>T	c.(3781-3783)CTA>CTT	p.L1261L	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.L1212L|TRIO_uc003jfh.1_Silent_p.L910L	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1261					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GTCTCCAGCTAGATATCATTC	0.428												
TRIO	7204	broad.mit.edu	37	5	14485245	14485245	+	Missense_Mutation	SNP	C	C	T	rs55916212		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:14485245C>T	uc003jff.2	+	47	6731	c.6725C>T	c.(6724-6726)ACG>ATG	p.T2242M	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.T1891M	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2242	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					ACATCGAGGACGGGTGACGTG	0.373												
CDH12	1010	broad.mit.edu	37	5	21752216	21752216	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:21752216G>A	uc010iuc.2	-	12	2473	c.2015C>T	c.(2014-2016)GCT>GTT	p.A672V	CDH12_uc011cno.1_Missense_Mutation_p.A632V|CDH12_uc003jgk.2_Missense_Mutation_p.A672V|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	672	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GATGTCGAAAGCCTGGGTATC	0.463										HNSCC(59;0.17)		
CDH10	1008	broad.mit.edu	37	5	24505263	24505263	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:24505263G>A	uc003jgr.1	-	8	1683	c.1351C>T	c.(1351-1353)CTA>TTA	p.L451L	CDH10_uc011cnu.1_Intron	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	451	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CACTGAGATAGTTCACGGTCA	0.318										HNSCC(23;0.051)		
CAPSL	133690	broad.mit.edu	37	5	35910535	35910535	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:35910535A>C	uc003jjt.1	-	3	343	c.248T>G	c.(247-249)CTT>CGT	p.L83R	CAPSL_uc003jju.1_Missense_Mutation_p.L83R	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	83	EF-hand 2.					cytoplasm	calcium ion binding			skin(1)	1	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CCTCCGGAAAAGTTCTTCCAC	0.348												
UGT3A1	133688	broad.mit.edu	37	5	35954404	35954404	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:35954404A>G	uc003jjv.1	-	7	1629	c.1472T>C	c.(1471-1473)TTT>TCT	p.F491S	UGT3A1_uc003jjw.1_RNA	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	491	Helical; (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCCAGCAGAAACACAAAGAC	0.582												
NIPBL	25836	broad.mit.edu	37	5	37020714	37020714	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:37020714A>G	uc003jkl.3	+	26	5663	c.5164A>G	c.(5164-5166)AAC>GAC	p.N1722D	NIPBL_uc003jkk.3_Missense_Mutation_p.N1722D	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	1722					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)			TCGAGCTGAAAACCGAAAAAA	0.343												
C5orf42	65250	broad.mit.edu	37	5	37183479	37183479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:37183479G>A	uc011cpa.1	-	26	5035	c.4804C>T	c.(4804-4806)CGA>TGA	p.R1602*	C5orf42_uc011coy.1_Nonsense_Mutation_p.R103*|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Nonsense_Mutation_p.R677*|C5orf42_uc011cpb.1_Nonsense_Mutation_p.R483*	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1602										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTCTGATGTCGTTTTAATGTT	0.348												
PTGER4	5734	broad.mit.edu	37	5	40681634	40681634	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:40681634C>T	uc003jlz.2	+	2	1131	c.539C>T	c.(538-540)GCG>GTG	p.A180V		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	180	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						AACGTGACGGCGCACGCCGCC	0.627												
PELO	53918	broad.mit.edu	37	5	52096478	52096478	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:52096478A>G	uc003jos.2	+	2	1235	c.250A>G	c.(250-252)AAG>GAG	p.K84E	ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron	NM_015946	NP_057030	Q9BRX2	PELO_HUMAN	pelota homolog	84					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding				0		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GCTGCGGGTTAAGGGGACCAA	0.607												
SNX18	112574	broad.mit.edu	37	5	53814488	53814488	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:53814488G>A	uc003jpj.3	+	1	896	c.706G>A	c.(706-708)GTC>ATC	p.V236I	SNX18_uc011cqg.1_Missense_Mutation_p.V236I|SNX18_uc003jpi.3_Missense_Mutation_p.V236I	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	236					cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CTCCACCTTCGTCAAGTCCGG	0.706												
ESM1	11082	broad.mit.edu	37	5	54281199	54281199	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:54281199G>A	uc003jpk.2	-	1	216	c.147C>T	c.(145-147)GAC>GAT	p.D49D	ESM1_uc010ivt.2_Silent_p.D49D	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1 isoform a	49	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			AGCCACAGTCGTCGAGCACTG	0.612												
SLC38A9	153129	broad.mit.edu	37	5	54945092	54945092	+	Missense_Mutation	SNP	G	G	A	rs145728023		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:54945092G>A	uc003jqf.2	-	11	1204	c.1003C>T	c.(1003-1005)CGC>TGC	p.R335C	SLC38A9_uc003jqd.2_Missense_Mutation_p.R272C|SLC38A9_uc010ivx.2_Intron|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Missense_Mutation_p.R206C	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	335					amino acid transport|sodium ion transport	integral to membrane					0		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AATCCCAAGCGAACAGCCTTA	0.323												
RAB3C	115827	broad.mit.edu	37	5	58120944	58120944	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:58120944C>T	uc003jrp.2	+	4	548	c.451C>T	c.(451-453)CGG>TGG	p.R151W		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	151					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)|central_nervous_system(1)	2		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		GGAAGACGAGCGGGTCATCTC	0.363												
DEPDC1B	55789	broad.mit.edu	37	5	59983002	59983002	+	Missense_Mutation	SNP	C	C	T	rs143548430		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:59983002C>T	uc003jsh.2	-	2	174	c.101G>A	c.(100-102)CGC>CAC	p.R34H	DEPDC1B_uc011cqm.1_Missense_Mutation_p.R34H|DEPDC1B_uc011cqn.1_Missense_Mutation_p.R7H	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B isoform 1	34	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GAAACGACAGCGATGTTTCCG	0.468												
ELOVL7	79993	broad.mit.edu	37	5	60063707	60063707	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:60063707T>C	uc003jsi.3	-	5	479	c.279A>G	c.(277-279)ATA>ATG	p.I93M	ELOVL7_uc011cqo.1_Missense_Mutation_p.I6M|ELOVL7_uc010iwk.2_Missense_Mutation_p.I93M|ELOVL7_uc003jsj.3_Missense_Mutation_p.I80M	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	elongation of very long chain fatty acids-like	93	Helical; (Potential).				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				ATGAATAACCTATACCCCAGC	0.388												
SFRS12IP1	285672	broad.mit.edu	37	5	64036933	64036933	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:64036933G>A	uc003jtk.2	-	3	308	c.156C>T	c.(154-156)AGC>AGT	p.S52S		NM_173829	NP_776190	Q8N9Q2	SR1IP_HUMAN	P18SRP protein	52					mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding				0		Lung NSC(167;1.66e-05)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.119)		TCTCTTCATCGCTATCTTCAC	0.363												
MAP1B	4131	broad.mit.edu	37	5	71499573	71499573	+	Missense_Mutation	SNP	G	G	A	rs144647263		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:71499573G>A	uc003kbw.3	+	6	7437	c.7196G>A	c.(7195-7197)CGG>CAG	p.R2399Q		NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2399						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAGCCCAGCCGGGCTGTCCTG	0.537												
ENC1	8507	broad.mit.edu	37	5	73932117	73932117	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:73932117G>A	uc003kdc.3	-	2	1325	c.194C>T	c.(193-195)GCT>GTT	p.A65V	ENC1_uc011css.1_5'UTR	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	65	BTB.				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ACTGCATGCAGCCAGCACTGC	0.542												
CMYA5	202333	broad.mit.edu	37	5	79029657	79029657	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:79029657C>T	uc003kgc.2	+	2	5141	c.5069C>T	c.(5068-5070)GCA>GTA	p.A1690V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1690						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGCTTTGTGCATCTTCTACG	0.413												
CMYA5	202333	broad.mit.edu	37	5	79034572	79034572	+	Silent	SNP	C	C	T	rs140841478	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:79034572C>T	uc003kgc.2	+	2	10056	c.9984C>T	c.(9982-9984)GAC>GAT	p.D3328D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3328						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCACAGAGGACGTCAGAGTGG	0.483												
FAM151B	167555	broad.mit.edu	37	5	79809532	79809532	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:79809532G>T	uc003kgv.1	+	3	404	c.261G>T	c.(259-261)CAG>CAT	p.Q87H	FAM151B_uc010jal.1_RNA	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	hypothetical protein LOC167555	87											0		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		ATACTCTACAGGAGTGGCTGA	0.398												
MSH3	4437	broad.mit.edu	37	5	79966025	79966025	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:79966025C>T	uc003kgz.2	+	4	942	c.689C>T	c.(688-690)ACG>ATG	p.T230M		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	230	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)		AGCATCTATACGCCGCTAGAA	0.368								MMR				
RIOK2	55781	broad.mit.edu	37	5	96503200	96503200	+	Silent	SNP	C	C	T	rs148140829		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:96503200C>T	uc003kmz.2	-	8	1478	c.1368G>A	c.(1366-1368)TCG>TCA	p.S456S	RIOK2_uc003kna.3_Silent_p.S456S	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2 isoform 1	456	Protein kinase.						ATP binding|protein serine/threonine kinase activity			kidney(1)	1		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TATTTAATGACGACAAGGCAA	0.398												
TMED7-TICAM2	100302736	broad.mit.edu	37	5	114916738	114916738	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:114916738T>G	uc003krd.2	-	4	1222	c.216A>C	c.(214-216)GAA>GAC	p.E72D	TMED7-TICAM2_uc003kre.2_Missense_Mutation_p.E241D|TICAM2_uc003krc.2_Missense_Mutation_p.E72D	NM_021649	NP_067681	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	72					I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity				0						CTTCTTCAGCTTCTTCTTCAA	0.453												
HSD17B4	3295	broad.mit.edu	37	5	118824919	118824919	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:118824919G>A	uc003ksj.2	+	9	778	c.655G>A	c.(655-657)GCA>ACA	p.A219T	HSD17B4_uc011cwg.1_Missense_Mutation_p.A195T|HSD17B4_uc011cwh.1_Missense_Mutation_p.A201T|HSD17B4_uc011cwi.1_Missense_Mutation_p.A244T|HSD17B4_uc003ksk.3_Missense_Mutation_p.A72T|HSD17B4_uc011cwj.1_Missense_Mutation_p.A72T|HSD17B4_uc010jcn.1_5'UTR	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	219	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	AGAGTATGTGGCACCTCTTGT	0.368												
FTMT	94033	broad.mit.edu	37	5	121187858	121187858	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:121187858G>A	uc003kss.2	+	1	209	c.200G>A	c.(199-201)CGG>CAG	p.R67Q		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	67					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGCCCCTCTCGGGTGCGCCAG	0.711												
SNX2	6643	broad.mit.edu	37	5	122151619	122151619	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:122151619A>G	uc003kte.2	+	8	800	c.751A>G	c.(751-753)ACT>GCT	p.T251A	SNX2_uc011cwn.1_Missense_Mutation_p.T134A	NM_003100	NP_003091	O60749	SNX2_HUMAN	sorting nexin 2	251	PX.				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			kidney(1)	1		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		AAAACATCCAACTTTACTACA	0.289												
MEGF10	84466	broad.mit.edu	37	5	126784839	126784839	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:126784839A>G	uc003kuh.3	+	23	3267	c.2905A>G	c.(2905-2907)AAG>GAG	p.K969E	MEGF10_uc003kui.3_Missense_Mutation_p.K969E	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	969	Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GAACCCTGGGAAGAGAGGCCC	0.463												
FBN2	2201	broad.mit.edu	37	5	127664437	127664437	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:127664437G>A	uc003kuu.2	-	34	4861	c.4422C>T	c.(4420-4422)TGC>TGT	p.C1474C	FBN2_uc003kuv.2_Silent_p.C1441C	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1474	EGF-like 24; 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)		TCTCACACTCGCAGCGATATG	0.473												
CHSY3	337876	broad.mit.edu	37	5	129241081	129241081	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:129241081C>T	uc003kvd.2	+	1	559	c.559C>T	c.(559-561)CGC>TGC	p.R187C		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	187	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCTGGGCAGCCGCGCGCTGGC	0.751												
AFF4	27125	broad.mit.edu	37	5	132232692	132232692	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:132232692G>A	uc003kyd.2	-	11	2038	c.1630C>T	c.(1630-1632)CGT>TGT	p.R544C	AFF4_uc011cxk.1_Missense_Mutation_p.R222C|AFF4_uc003kye.1_Missense_Mutation_p.R544C	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	544					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)			TGCCTCCCACGCCCACTTTCT	0.493												
TRPC7	57113	broad.mit.edu	37	5	135651372	135651372	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:135651372G>A	uc003lbn.1	-	2	876	c.873C>T	c.(871-873)AAC>AAT	p.N291N	TRPC7_uc010jef.1_Silent_p.N283N|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Intron|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	292	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCACATCACCGTTTAAAATTG	0.478												
FAM13B	51306	broad.mit.edu	37	5	137295364	137295364	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:137295364G>A	uc003lbz.2	-	13	1916	c.1382C>T	c.(1381-1383)GCG>GTG	p.A461V	FAM13B_uc003lcb.2_Missense_Mutation_p.A343V|FAM13B_uc003lca.2_Missense_Mutation_p.A461V	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	461					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						ACTGACACACGCTGCTTCCCC	0.383												
FAM13B	51306	broad.mit.edu	37	5	137346815	137346815	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:137346815A>G	uc003lbz.2	-	6	1106	c.572T>C	c.(571-573)ATG>ACG	p.M191T	FAM13B_uc003lcb.2_Missense_Mutation_p.M73T|FAM13B_uc003lca.2_Missense_Mutation_p.M191T	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	hypothetical protein LOC51306 isoform 1	191	Rho-GAP.|Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						TTGCTCTTTCATGTCTTCCAC	0.343												
DND1	373863	broad.mit.edu	37	5	140052406	140052406	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140052406C>T	uc003lgt.2	-	3	272	c.228G>A	c.(226-228)CCG>CCA	p.P76P		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	dead end homolog 1	76	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGAACAGCGGGATAAGCT	0.672												
PCDHA1	56147	broad.mit.edu	37	5	140166568	140166568	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140166568C>T	uc003lhb.2	+	1	693	c.693C>T	c.(691-693)ACC>ACT	p.T231T	PCDHA1_uc003lha.2_Silent_p.T231T|PCDHA1_uc003lgz.2_Silent_p.T231T	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	231	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGATCACCGTCCTCGACG	0.458												
PCDHA1	56147	broad.mit.edu	37	5	140167730	140167730	+	Missense_Mutation	SNP	C	C	T	rs140874802		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140167730C>T	uc003lhb.2	+	1	1855	c.1855C>T	c.(1855-1857)CGC>TGC	p.R619C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R619C	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	619	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGGCGCGCGCATCCCGTT	0.667												
PCDHA4	56144	broad.mit.edu	37	5	140186810	140186810	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140186810G>A	uc003lhi.2	+	1	139	c.38G>A	c.(37-39)CGT>CAT	p.R13H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R13H|PCDHA4_uc011daa.1_Missense_Mutation_p.R13H	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	13					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)			GAATCCCGGCGTCTGCTGCTC	0.522												
PCDHA13	56136	broad.mit.edu	37	5	140263148	140263148	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140263148C>T	uc003lif.2	+	1	1295	c.1295C>T	c.(1294-1296)TCG>TTG	p.S432L	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_Missense_Mutation_p.S432L|PCDHA13_uc003lid.2_Missense_Mutation_p.S432L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	432	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGGGCTCGCCTTCGCTG	0.652												
PCDHB3	56132	broad.mit.edu	37	5	140482390	140482390	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140482390G>A	uc003lio.2	+	1	2157	c.2157G>A	c.(2155-2157)GCG>GCA	p.A719A	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	719	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGGCGGCCTCGGTGG	0.667												
PCDHB6	56130	broad.mit.edu	37	5	140531513	140531513	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140531513G>A	uc003lir.2	+	1	1675	c.1675G>A	c.(1675-1677)GTG>ATG	p.V559M	PCDHB6_uc011dah.1_Missense_Mutation_p.V423M	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	559	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGTTGTACCC	0.721												
PCDHB11	56125	broad.mit.edu	37	5	140580945	140580945	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140580945C>T	uc003liy.2	+	1	1598	c.1598C>T	c.(1597-1599)GCC>GTC	p.A533V	PCDHB11_uc011daj.1_Missense_Mutation_p.A168V	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	533	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGTGGGCGCCACAGACCGC	0.672												
PCDHB11	56125	broad.mit.edu	37	5	140581300	140581300	+	Silent	SNP	G	G	A	rs149838996		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140581300G>A	uc003liy.2	+	1	1953	c.1953G>A	c.(1951-1953)CCG>CCA	p.P651P	PCDHB11_uc011daj.1_Silent_p.P286P	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	651	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGCCTCCGCGCTCGGCCA	0.721												
PCDHB11	56125	broad.mit.edu	37	5	140581426	140581426	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140581426G>A	uc003liy.2	+	1	2079	c.2079G>A	c.(2077-2079)GCG>GCA	p.A693A	PCDHB11_uc011daj.1_Silent_p.A328A	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	693	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGTGGCGTTGGCCTCGG	0.692												
PCDHGA5	56110	broad.mit.edu	37	5	140744367	140744367	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140744367C>T	uc003lju.1	+	1	470	c.470C>T	c.(469-471)GCG>GTG	p.A157V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.A157V	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	157	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCCTTCGCGCGGGATGCG	0.488												
PCDHGC3	5098	broad.mit.edu	37	5	140856562	140856562	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140856562A>G	uc003lkv.1	+	1	994	c.879A>G	c.(877-879)CAA>CAG	p.Q293Q	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.Q293Q|PCDHGC3_uc003lkw.1_Intron	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3 isoform 1	293	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)			GCGTGCGGCAACTATTCGCCT	0.547												
KIAA0141	9812	broad.mit.edu	37	5	141305077	141305077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:141305077G>A	uc003lls.2	+	3	371	c.249G>A	c.(247-249)TGG>TGA	p.W83*	KIAA0141_uc003llt.2_Nonsense_Mutation_p.W83*	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	83					apoptosis|regulation of caspase activity	mitochondrion	protein binding			skin(1)	1		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACCCTATGGGATGCCATAT	0.567												
ARHGAP26	23092	broad.mit.edu	37	5	142264882	142264882	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:142264882A>G	uc011dbj.1	+	5	439	c.404A>G	c.(403-405)GAC>GGC	p.D135G	ARHGAP26_uc003lmt.2_Missense_Mutation_p.D135G|ARHGAP26_uc003lmw.2_Missense_Mutation_p.D135G	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	135					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAAGTATGACAAAGAGACA	0.363												
NIPAL4	348938	broad.mit.edu	37	5	156890283	156890283	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:156890283C>T	uc003lwx.3	+	2	521	c.405C>T	c.(403-405)AGC>AGT	p.S135S	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Silent_p.S135S|NIPAL4_uc010jin.1_Missense_Mutation_p.A70V	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	135	Helical; (Potential).					integral to membrane	receptor activity				0						TCGGCAGCAGCGTCATCCTCA	0.592												
THG1L	54974	broad.mit.edu	37	5	157158484	157158484	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:157158484C>A	uc003lxd.2	+	1	162	c.36C>A	c.(34-36)TCC>TCA	p.S12S	THG1L_uc011ddu.1_5'UTR	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	interphase cytoplasmic foci protein 45	12					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCACGATTCCTTGGCCACCA	0.552												
PWWP2A	114825	broad.mit.edu	37	5	159545831	159545831	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:159545831G>T	uc011ded.1	-	1	622	c.565C>A	c.(565-567)CTC>ATC	p.L189I	PWWP2A_uc003lxv.3_Missense_Mutation_p.L189I|PWWP2A_uc011dec.1_Missense_Mutation_p.L189I	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A isoform b	189											0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATCCATGAGGACCCCGGAG	0.687												
ATP10B	23120	broad.mit.edu	37	5	160076224	160076224	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:160076224C>T	uc003lym.1	-	8	1562	c.715G>A	c.(715-717)GTG>ATG	p.V239M	ATP10B_uc003lyp.2_Missense_Mutation_p.V239M|ATP10B_uc011deg.1_Missense_Mutation_p.V283M|ATP10B_uc003lyo.2_Missense_Mutation_p.V211M	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	239	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTCACACACGATGGTATTG	0.408												
GABRG2	2566	broad.mit.edu	37	5	161576318	161576318	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:161576318C>A	uc003lyz.3	+	8	1485	c.1127C>A	c.(1126-1128)CCT>CAT	p.P376H	GABRG2_uc010jjc.2_Missense_Mutation_p.P416H|GABRG2_uc003lyy.3_Missense_Mutation_p.P376H|GABRG2_uc011dej.1_Missense_Mutation_p.P281H	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	376	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AAGAAAAACCCTGTATGTATC	0.398												
ODZ2	57451	broad.mit.edu	37	5	167589703	167589703	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:167589703G>T	uc010jjd.2	+	13	2483	c.2483G>T	c.(2482-2484)GGG>GTG	p.G828V	ODZ2_uc003lzr.3_Missense_Mutation_p.G605V|ODZ2_uc003lzt.3_Missense_Mutation_p.G201V|ODZ2_uc010jje.2_Missense_Mutation_p.G99V|uc003lzs.1_Intron	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)		GGCTGGAGAGGGCCCGGATGC	0.562												
HK3	3101	broad.mit.edu	37	5	176311091	176311091	+	Silent	SNP	G	G	A	rs114856191	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:176311091G>A	uc003mfa.2	-	14	1994	c.1902C>T	c.(1900-1902)TGC>TGT	p.C634C	HK3_uc003mez.2_Silent_p.C190C	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	634	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGGCCCTCGCAGTCTGATG	0.607												
FGFR4	2264	broad.mit.edu	37	5	176520545	176520545	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:176520545C>T	uc003mfl.2	+	10	1557	c.1390C>T	c.(1390-1392)CGG>TGG	p.R464W	FGFR4_uc003mfm.2_Missense_Mutation_p.R464W|FGFR4_uc011dfu.1_Intron|FGFR4_uc003mfo.2_Missense_Mutation_p.R424W	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	464	Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GGAGTTCCCCCGGGACAGGTG	0.682										TSP Lung(9;0.080)		
DDX41	51428	broad.mit.edu	37	5	176942772	176942772	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:176942772C>T	uc003mho.2	-	6	506	c.485G>A	c.(484-486)CGC>CAC	p.R162H	DDX41_uc003mhm.2_5'UTR|DDX41_uc003mhn.2_Missense_Mutation_p.R31H|DDX41_uc003mhp.2_Missense_Mutation_p.R31H|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	162					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			cttccgcacgcgctcatgtcg	0.124												
AGXT2L2	85007	broad.mit.edu	37	5	177658438	177658438	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:177658438T>G	uc003miz.2	-	2	398	c.146A>C	c.(145-147)GAA>GCA	p.E49A	AGXT2L2_uc003mjc.2_Missense_Mutation_p.E8A|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_5'UTR	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	alanine-glyoxylate aminotransferase 2-like 2	49						mitochondrion	pyridoxal phosphate binding|transaminase activity			pancreas(1)	1	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATCGATGTATTCTGCCCCCTG	0.562												
AGXT2L2	85007	broad.mit.edu	37	5	177658483	177658483	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:177658483A>C	uc003miz.2	-	2	353	c.101T>G	c.(100-102)ATT>AGT	p.I34S	AGXT2L2_uc003mjc.2_5'UTR|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_5'UTR	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	alanine-glyoxylate aminotransferase 2-like 2	34						mitochondrion	pyridoxal phosphate binding|transaminase activity			pancreas(1)	1	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GGCCCGGACAATCTTAACAGG	0.537												
ZFP2	80108	broad.mit.edu	37	5	178359347	178359347	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:178359347C>T	uc003mjn.1	+	5	1542	c.1033C>T	c.(1033-1035)CGG>TGG	p.R345W	ZFP2_uc010jky.2_Missense_Mutation_p.R345W|ZFP2_uc010jkx.1_Missense_Mutation_p.R345W	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	345	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		AACTCAACATCGGAGAATTCA	0.398												
ZNF454	285676	broad.mit.edu	37	5	178392167	178392167	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:178392167A>G	uc003mjo.1	+	5	1033	c.762A>G	c.(760-762)TCA>TCG	p.S254S	ZNF454_uc010jkz.1_Silent_p.S254S	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	254	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AGGCCTTCTCAGTGAGCTCCT	0.433												
ZNF354C	30832	broad.mit.edu	37	5	178503473	178503473	+	Missense_Mutation	SNP	G	G	A	rs138654012		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:178503473G>A	uc003mju.2	+	3	170	c.55G>A	c.(55-57)GTG>ATG	p.V19M		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GGATGTGGCCGTGTTCTTCAG	0.557												
RUFY1	80230	broad.mit.edu	37	5	179007984	179007984	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:179007984T>A	uc003mka.1	+	7	927	c.927T>A	c.(925-927)AAT>AAA	p.N309K	RUFY1_uc003mkb.1_Missense_Mutation_p.N201K|RUFY1_uc003mkc.1_Missense_Mutation_p.N201K	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	309					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCAAAAAAATTATGTGGAAG	0.333										HNSCC(44;0.11)		
F13A1	2162	broad.mit.edu	37	6	6167823	6167823	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:6167823G>A	uc003mwv.2	-	13	1899	c.1776C>T	c.(1774-1776)GCC>GCT	p.A592A	F13A1_uc011dib.1_Silent_p.A529A	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	592					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGTACTCGCCGGCTTGGATCA	0.512												
SLC35B3	51000	broad.mit.edu	37	6	8428193	8428193	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:8428193C>T	uc010joe.2	-	4	562	c.396G>A	c.(394-396)CAG>CAA	p.Q132Q	SLC35B3_uc003mya.2_Silent_p.Q100Q|SLC35B3_uc003myc.2_RNA|SLC35B3_uc003myb.2_Silent_p.Q132Q|SLC35B3_uc011did.1_Silent_p.Q132Q|SLC35B3_uc003myd.2_RNA	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN	solute carrier family 35, member B3	132	Helical; (Potential).				transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)					CCTGAATAAGCTGAAGTTCTA	0.333												
GCM2	9247	broad.mit.edu	37	6	10881950	10881950	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:10881950G>A	uc003mzn.3	-	1	149	c.77C>T	c.(76-78)CCG>CTG	p.P26L	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	26	GCM.				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AGGCATCTGCGGATCGTTGAT	0.642												
HIVEP1	3096	broad.mit.edu	37	6	12121957	12121957	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:12121957C>T	uc003nac.2	+	4	2108	c.1929C>T	c.(1927-1929)CAC>CAT	p.H643H	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	643					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAACGGTACACGCCCAGCTAC	0.502												
OR2B6	26212	broad.mit.edu	37	6	27925401	27925401	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:27925401G>A	uc011dkx.1	+	1	383	c.383G>A	c.(382-384)CGG>CAG	p.R128Q		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GCTATTTGTCGGCCTCTCCAT	0.493												
MDC1	9656	broad.mit.edu	37	6	30670572	30670572	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:30670572A>G	uc003nrg.3	-	13	6388	c.5948T>C	c.(5947-5949)CTT>CCT	p.L1983P	MDC1_uc003nrf.3_Missense_Mutation_p.L614P	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1983	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TGCGTCTTGAAGGCTAAAGCC	0.547								Other_conserved_DNA_damage_response_genes				
DDR1	780	broad.mit.edu	37	6	30859887	30859887	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:30859887G>T	uc003nrr.2	+	8	1033	c.774G>T	c.(772-774)TGG>TGT	p.W258C	DDR1_uc010jse.2_Missense_Mutation_p.W258C|DDR1_uc003nrq.2_Missense_Mutation_p.W258C|DDR1_uc003nrs.2_Missense_Mutation_p.W258C|DDR1_uc003nrt.2_Missense_Mutation_p.W258C|DDR1_uc011dms.1_Missense_Mutation_p.W276C|DDR1_uc003nru.2_Missense_Mutation_p.W258C|DDR1_uc011dmu.1_Missense_Mutation_p.G225V|DDR1_uc003nrv.2_Missense_Mutation_p.W258C|DDR1_uc003nrw.1_Missense_Mutation_p.W57C|DDR1_uc003nry.1_5'Flank|DDR1_uc003nrx.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	258	Extracellular (Potential).				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	ATGTGGGATGGAGCAACCACA	0.587												
GTF2H4	2968	broad.mit.edu	37	6	30876949	30876949	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:30876949A>G	uc003nsa.1	+	2	343	c.136A>G	c.(136-138)AGG>GGG	p.R46G	GTF2H4_uc010jsf.2_Missense_Mutation_p.R46G|GTF2H4_uc011dmv.1_Intron|GTF2H4_uc003nsb.1_5'UTR|GTF2H4_uc011dmw.1_Missense_Mutation_p.R52G	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	46					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3						GGCTGTCTTCAGGTGAGAAGC	0.532								NER				
GTF2H4	2968	broad.mit.edu	37	6	30879212	30879212	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:30879212G>A	uc003nsa.1	+	8	884	c.677G>A	c.(676-678)CGG>CAG	p.R226Q	GTF2H4_uc010jsf.2_Missense_Mutation_p.R226Q|GTF2H4_uc011dmv.1_Missense_Mutation_p.R170Q|GTF2H4_uc003nsb.1_Missense_Mutation_p.R64Q|GTF2H4_uc011dmw.1_Missense_Mutation_p.R232Q|VARS2_uc003nsc.1_5'Flank|VARS2_uc003nsd.2_5'Flank|VARS2_uc011dmx.1_5'Flank|VARS2_uc011dmy.1_5'Flank|VARS2_uc011dmz.1_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	226					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3						CCCTAGAGCCGGGGCATGGAC	0.532								NER				
BAT3	7917	broad.mit.edu	37	6	31612889	31612889	+	Silent	SNP	A	A	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:31612889A>T	uc003nvg.3	-	10	1535	c.1221T>A	c.(1219-1221)CCT>CCA	p.P407P	BAT3_uc003nvf.3_Silent_p.P401P|BAT3_uc003nvh.3_Silent_p.P401P|BAT3_uc003nvi.3_Silent_p.P401P|BAT3_uc011dnw.1_Silent_p.P401P|BAT3_uc011dnx.1_Silent_p.P401P|BAT3_uc003nvj.1_Silent_p.P401P	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	407	Pro-rich.|4 X 29 AA approximate repeats.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						AGGCCTGCCCAGGACCAGGGG	0.632												
LY6G5B	58496	broad.mit.edu	37	6	31638784	31638784	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:31638784G>T	uc003nvt.1	+	1	57	c.57G>T	c.(55-57)AAG>AAT	p.K19N	CSNK2B_uc003nvs.1_Intron	NM_021221	NP_067044	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex G5B precursor	19						extracellular region					0						CAGTAGGAAAGGGTAAGTGGG	0.587												
VARS	7407	broad.mit.edu	37	6	31747487	31747487	+	Silent	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:31747487G>T	uc003nxe.2	-	27	3609	c.3186C>A	c.(3184-3186)CCC>CCA	p.P1062P	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_5'UTR	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1062					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	AGGGCATGAAGGGTGAGAGCA	0.642												
VARS	7407	broad.mit.edu	37	6	31750092	31750092	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:31750092C>T	uc003nxe.2	-	17	2543	c.2120G>A	c.(2119-2121)CGC>CAC	p.R707H	VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	707					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	ATGCCATGTGCGCTGATGGGC	0.677												
ATF6B	1388	broad.mit.edu	37	6	32087711	32087711	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:32087711C>A	uc003nzn.2	-	9	889	c.856G>T	c.(856-858)GGT>TGT	p.G286C	TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Missense_Mutation_p.G283C|ATF6B_uc003nzp.1_5'UTR	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	286	Cytoplasmic (Potential).				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGAATAGCACCCTGGATGAGG	0.627												
HLA-DRA	3122	broad.mit.edu	37	6	32411068	32411068	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:32411068G>A	uc003obh.2	+	3	516	c.435G>A	c.(433-435)ACG>ACA	p.T145T	HLA-DRA_uc003obi.2_Silent_p.T120T	NM_019111	NP_061984	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR	145	Ig-like C1-type.|Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			ovary(1)|skin(1)	2						TCAATGTCACGTGGCTTCGAA	0.522									T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of			
BRD2	6046	broad.mit.edu	37	6	32946024	32946024	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:32946024C>T	uc003ocn.3	+	10	3401	c.1700C>T	c.(1699-1701)GCT>GTT	p.A567V	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Missense_Mutation_p.A567V|BRD2_uc003ocp.3_Missense_Mutation_p.A447V|BRD2_uc010juh.2_Missense_Mutation_p.A567V	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	567					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CGAGGCCGAGCTGGGGCCGAT	0.547												
RXRB	6257	broad.mit.edu	37	6	33162723	33162723	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:33162723G>A	uc003odb.2	-	9	1632	c.1453C>T	c.(1453-1455)CGG>TGG	p.R485W	RXRB_uc003odc.2_Missense_Mutation_p.R489W|RXRB_uc003odd.2_Missense_Mutation_p.R389W|RXRB_uc011dqr.1_Missense_Mutation_p.R299W	NM_021976	NP_068811	P28702	RXRB_HUMAN	retinoid X receptor, beta	485	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			ovary(3)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCATCTCACCGTCCCTGCTGC	0.597												
RPS18	6222	broad.mit.edu	37	6	33240412	33240412	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:33240412T>C	uc003odp.1	+	2	56	c.11T>C	c.(10-12)GTG>GCG	p.V4A	VPS52_uc003odm.1_5'Flank|VPS52_uc003odn.1_5'Flank|VPS52_uc003odo.1_5'Flank|VPS52_uc011dqy.1_5'Flank|VPS52_uc011dqz.1_5'Flank|RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA	NM_022551	NP_072045	P62269	RS18_HUMAN	ribosomal protein S18	4					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome				0						TAGTCTCTAGTGATCCCTGAA	0.418												
SCUBE3	222663	broad.mit.edu	37	6	35200696	35200696	+	Missense_Mutation	SNP	T	T	C	rs147288110		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:35200696T>C	uc003okf.1	+	5	545	c.539T>C	c.(538-540)ATT>ACT	p.I180T	SCUBE3_uc003okg.1_Missense_Mutation_p.I179T|SCUBE3_uc003okh.1_Missense_Mutation_p.I51T	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	180	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						AAGGGGGGTATTGCCTGTGAA	0.527												
LHFPL5	222662	broad.mit.edu	37	6	35773660	35773660	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:35773660C>T	uc003olg.1	+	1	590	c.213C>T	c.(211-213)AAC>AAT	p.N71N		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	71	Helical; (Potential).					integral to membrane				skin(1)	1						GCGTGGGTAACGTGCTGTCCT	0.587												
MDGA1	266727	broad.mit.edu	37	6	37617966	37617966	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:37617966C>T	uc003onu.1	-	8	2707	c.1528G>A	c.(1528-1530)GGG>AGG	p.G510R		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	510	Ig-like 5.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						CGGTAGGTCCCGCTCATGTCT	0.682												
BTBD9	114781	broad.mit.edu	37	6	38160312	38160312	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:38160312G>A	uc003ooa.3	-	11	2200	c.1624C>T	c.(1624-1626)CAC>TAC	p.H542Y	BTBD9_uc003ony.3_Missense_Mutation_p.H474Y|BTBD9_uc010jwv.2_Missense_Mutation_p.H503Y|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.H542Y	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	542					cell adhesion						0						GCTGTGTTGTGTGTCCCAACG	0.453												
DNAH8	1769	broad.mit.edu	37	6	38771012	38771012	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:38771012G>A	uc003ooe.1	+	20	2908	c.2308G>A	c.(2308-2310)GCT>ACT	p.A770T		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						TGTGGAAGAAGCTGTCAGAGA	0.328												
PEX6	5190	broad.mit.edu	37	6	42937691	42937691	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:42937691C>T	uc003otf.2	-	4	1258	c.1165G>A	c.(1165-1167)GTT>ATT	p.V389I	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	389					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)			GCTTCCCCAACTGTTTTCTTC	0.542												
KLC4	89953	broad.mit.edu	37	6	43038170	43038170	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:43038170C>T	uc003otv.1	+	7	1035	c.958C>T	c.(958-960)CGG>TGG	p.R320W	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.R243W|KLC4_uc003otw.1_Missense_Mutation_p.R338W|KLC4_uc003otx.1_Missense_Mutation_p.R320W|KLC4_uc003oty.1_Missense_Mutation_p.R320W|KLC4_uc003otz.1_Missense_Mutation_p.R320W	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	320	TPR 4.					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			TCTGTGCCAGCGGGCACTGGA	0.557											OREG0017448	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CUL9	23113	broad.mit.edu	37	6	43191082	43191082	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:43191082C>T	uc003ouk.2	+	39	7306	c.7231C>T	c.(7231-7233)CTG>TTG	p.L2411L	CUL9_uc003oul.2_Silent_p.L2383L|CUL9_uc010jyk.2_Silent_p.L1563L|CUL9_uc003oun.2_Silent_p.L206L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	2411					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GGGCATGGAGCTGCTCCGGCG	0.672												
CDC5L	988	broad.mit.edu	37	6	44376337	44376337	+	Nonsense_Mutation	SNP	C	C	T	rs148664123		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:44376337C>T	uc003oxl.2	+	8	1319	c.1060C>T	c.(1060-1062)CGA>TGA	p.R354*		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	354	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TAGAACACCACGAACACCAGC	0.438												
TDRD6	221400	broad.mit.edu	37	6	46657015	46657015	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:46657015G>A	uc003oyj.2	+	1	1150	c.1150G>A	c.(1150-1152)GGT>AGT	p.G384S	TDRD6_uc010jze.2_Missense_Mutation_p.G378S	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	384					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			ACTCTGGGACGGTGGGAGAGG	0.502												
PKHD1	5314	broad.mit.edu	37	6	51524127	51524127	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:51524127G>A	uc003pah.1	-	61	11073	c.10797C>T	c.(10795-10797)CAC>CAT	p.H3599H		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3599	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CAGGCATCTCGTGAATAAACC	0.408												
TRAM2	9697	broad.mit.edu	37	6	52372384	52372384	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:52372384T>C	uc003paq.2	-	7	742	c.593A>G	c.(592-594)TAC>TGC	p.Y198C	EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_5'Flank	NM_012288	NP_036420	Q15035	TRAM2_HUMAN	translocation-associated membrane protein 2	198	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding				0	Lung NSC(77;0.109)					ATGCACCAGGTACAGGCAAAT	0.468												
FAM135A	57579	broad.mit.edu	37	6	71186928	71186928	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:71186928T>C	uc003pfj.2	+	6	568	c.435T>C	c.(433-435)CAT>CAC	p.H145H	FAM135A_uc003pfi.2_Silent_p.H145H|FAM135A_uc003pfh.2_Silent_p.H102H|FAM135A_uc003pfk.2_Silent_p.H145H|FAM135A_uc003pfl.2_Intron	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	145										central_nervous_system(1)	1						TTAGCCCCCATAGAGGCCTTC	0.413												
B3GAT2	135152	broad.mit.edu	37	6	71665631	71665631	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:71665631G>A	uc003pfv.2	-	1	1158	c.502C>T	c.(502-504)CGC>TGC	p.R168C	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.R168C	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	168	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TGCCTCTGGCGCAGCCAGGCG	0.701												
COL12A1	1303	broad.mit.edu	37	6	75798830	75798830	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:75798830C>T	uc003phs.2	-	64	9168	c.9002G>A	c.(9001-9003)GGC>GAC	p.G3001D	COL12A1_uc003pht.2_Missense_Mutation_p.G1837D	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	3001	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ACCTGGGGGGCCAGGCAGCCC	0.473												
IBTK	25998	broad.mit.edu	37	6	82941506	82941506	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:82941506C>T	uc003pjl.1	-	4	999	c.472G>A	c.(472-474)GGA>AGA	p.G158R	IBTK_uc011dyv.1_Missense_Mutation_p.G158R|IBTK_uc011dyw.1_Missense_Mutation_p.G158R|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.G158R	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	158	RCC1 1.				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTCTGGCTTCCATGACCCAGG	0.308												
DOPEY1	23033	broad.mit.edu	37	6	83868323	83868323	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:83868323C>T	uc003pjs.1	+	36	7039	c.6779C>T	c.(6778-6780)GCT>GTT	p.A2260V	DOPEY1_uc011dyy.1_Missense_Mutation_p.A2251V|DOPEY1_uc010kbl.1_Missense_Mutation_p.A2251V|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	2260					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAACTCACTGCTGATGAAGAT	0.284												
ME1	4199	broad.mit.edu	37	6	83921764	83921764	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:83921764G>A	uc003pjy.2	-	14	1704	c.1598C>T	c.(1597-1599)CCG>CTG	p.P533L	ME1_uc011dzb.1_Missense_Mutation_p.P458L|ME1_uc011dzc.1_Missense_Mutation_p.P367L	NM_002395	NP_002386	P48163	MAOX_HUMAN	cytosolic malic enzyme 1	533					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TTTGTTTTGCGGTTCAGGATA	0.343												
GABRR2	2570	broad.mit.edu	37	6	89967490	89967490	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:89967490G>A	uc003pnb.2	-	9	1380	c.1372C>T	c.(1372-1374)CGT>TGT	p.R458C	GABRR2_uc011dzx.1_Missense_Mutation_p.R334C	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	458	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGGAAGATACGAAAACCCGTC	0.448												
MDN1	23195	broad.mit.edu	37	6	90428333	90428333	+	Missense_Mutation	SNP	C	C	T	rs143104857		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:90428333C>T	uc003pnn.1	-	43	6451	c.6335G>A	c.(6334-6336)CGA>CAA	p.R2112Q		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2112					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)		CCTCCAAGGTCGTATAAGATC	0.463												
MDN1	23195	broad.mit.edu	37	6	90428941	90428941	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:90428941T>C	uc003pnn.1	-	41	6087	c.5971A>G	c.(5971-5973)ATT>GTT	p.I1991V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1991					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)		AATACAGCAATGACCTAAAGG	0.383												
SIM1	6492	broad.mit.edu	37	6	100838916	100838916	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:100838916G>A	uc003pqj.3	-	11	1829	c.1622C>T	c.(1621-1623)TCG>TTG	p.S541L	SIM1_uc010kcu.2_Missense_Mutation_p.S541L	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	541	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTCACTGGCCGACCCAGGGTC	0.443												
ASCC3	10973	broad.mit.edu	37	6	101246645	101246645	+	Missense_Mutation	SNP	C	C	T	rs144432672		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:101246645C>T	uc003pqk.2	-	8	1668	c.1339G>A	c.(1339-1341)GAA>AAA	p.E447K	ASCC3_uc011eai.1_Missense_Mutation_p.E349K|ASCC3_uc003pql.2_Missense_Mutation_p.E447K	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGCATTGGTTCGCTGTAGGGA	0.363												
GPR6	2830	broad.mit.edu	37	6	110301081	110301081	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:110301081G>A	uc011eaw.1	+	2	946	c.766G>A	c.(766-768)GCG>ACG	p.A256T	GPR6_uc011eav.1_Missense_Mutation_p.A271T|GPR6_uc003ptu.2_Missense_Mutation_p.A256T	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	256	Cytoplasmic (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CTGGCGCCACGCGCACCAGAT	0.662												
GOPC	57120	broad.mit.edu	37	6	117890792	117890792	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:117890792G>A	uc003pxu.2	-	7	1250	c.1020C>T	c.(1018-1020)AAC>AAT	p.N340N	GOPC_uc003pxq.1_Silent_p.N113N|DCBLD1_uc003pxs.2_3'UTR|GOPC_uc003pxv.2_Silent_p.N332N	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN	golgi associated PDZ and coiled-coil motif	340	PDZ.				apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding			ovary(1)	1		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		GGTTAACTCCGTTGACTGCCA	0.448			O	ROS1	glioblastoma							
C6orf170	221322	broad.mit.edu	37	6	121577347	121577347	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:121577347C>T	uc003pyo.1	-	16	1886	c.1818G>A	c.(1816-1818)TTG>TTA	p.L606L	C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Silent_p.L125L	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	606					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)		TAACCACAGGCAACATTTCTG	0.343												
TMEM200A	114801	broad.mit.edu	37	6	130761695	130761695	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:130761695G>A	uc003qca.2	+	3	999	c.128G>A	c.(127-129)CGG>CAG	p.R43Q	TMEM200A_uc010kfh.2_Missense_Mutation_p.R43Q|TMEM200A_uc010kfi.2_Missense_Mutation_p.R43Q|TMEM200A_uc003qcb.2_Missense_Mutation_p.R43Q	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	43	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATCAGGCGCCGGCCCCGGGCA	0.522												
ALDH8A1	64577	broad.mit.edu	37	6	135239565	135239565	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:135239565G>A	uc003qew.2	-	7	1505	c.1452C>T	c.(1450-1452)ACC>ACT	p.T484T	ALDH8A1_uc003qex.2_Silent_p.T430T|ALDH8A1_uc010kgh.2_Silent_p.T262T|ALDH8A1_uc011ecx.1_Silent_p.T434T	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	484					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AGTGTTTAACGGTGATGGTTT	0.473												
TNFAIP3	7128	broad.mit.edu	37	6	138192545	138192545	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:138192545C>T	uc003qhr.2	+	2	247	c.181C>T	c.(181-183)CGG>TGG	p.R61W	TNFAIP3_uc003qhs.2_Missense_Mutation_p.R61W	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	61	TRAF-binding.				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)		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)		TCCTCAGTTTCGGGAGATCAT	0.453			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma							
KIAA1244	57221	broad.mit.edu	37	6	138531123	138531123	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:138531123A>G	uc003qhu.2	+	4	296	c.296A>G	c.(295-297)AAT>AGT	p.N99S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	99					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGATACTGAATGCCGTGAAA	0.502												
UTRN	7402	broad.mit.edu	37	6	144783875	144783875	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:144783875C>A	uc003qkt.2	+	22	3031	c.2939C>A	c.(2938-2940)CCT>CAT	p.P980H	UTRN_uc010khq.1_Missense_Mutation_p.P980H	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	980					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATGTTCATCCTGATGTAGAA	0.353												
EPM2A	7957	broad.mit.edu	37	6	145948786	145948786	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:145948786C>T	uc003qkw.2	-	4	1119	c.762G>A	c.(760-762)GCG>GCA	p.A254A	EPM2A_uc003qkv.2_Silent_p.A254A|EPM2A_uc010khr.2_Missense_Mutation_p.A174T|EPM2A_uc003qkx.2_Silent_p.A116A|EPM2A_uc003qku.2_Silent_p.A100A	NM_005670	NP_005661	O95278	EPM2A_HUMAN	laforin isoform a	254	Tyrosine-protein phosphatase.				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		TCTCCAGCAGCGCATGCAGCA	0.627												
ZC3H12D	340152	broad.mit.edu	37	6	149795589	149795589	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:149795589C>T	uc003qmn.1	-	1	161	c.91G>A	c.(91-93)GCC>ACC	p.A31T	PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Missense_Mutation_p.A31T|ZC3H12D_uc010kid.2_Missense_Mutation_p.A31T	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	31						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding				0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TTGACCAGGGCGCCCTCGCCC	0.672												
LATS1	9113	broad.mit.edu	37	6	150005721	150005721	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:150005721C>T	uc003qmu.1	-	4	1052	c.504G>A	c.(502-504)GTG>GTA	p.V168V	LATS1_uc010kif.1_Silent_p.V63V|LATS1_uc003qmv.1_Silent_p.V168V|LATS1_uc003qmw.2_Silent_p.V168V|LATS1_uc010kig.1_Silent_p.V63V	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	168					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CTGATTGCTGCACATTCCCTA	0.383												
ESR1	2099	broad.mit.edu	37	6	152419910	152419910	+	Missense_Mutation	SNP	G	G	A	rs138961142		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:152419910G>A	uc003qom.3	+	10	1967	c.1597G>A	c.(1597-1599)GTG>ATG	p.V533M	ESR1_uc010kin.2_Missense_Mutation_p.V533M|ESR1_uc010kio.2_Missense_Mutation_p.V535M|ESR1_uc010kip.2_Missense_Mutation_p.V532M|ESR1_uc003qon.3_Missense_Mutation_p.V533M|ESR1_uc003qoo.3_Missense_Mutation_p.V533M|ESR1_uc010kiq.2_Missense_Mutation_p.V131M|ESR1_uc010kir.2_Missense_Mutation_p.V272M|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Missense_Mutation_p.V118M|ESR1_uc011eew.1_3'UTR|ESR1_uc011eex.1_Missense_Mutation_p.V208M|ESR1_uc011eey.1_3'UTR	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	533	Steroid-binding.|Interaction with AKAP13.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GTGCAAGAACGTGGTGCCCCT	0.577												
RGS17	26575	broad.mit.edu	37	6	153347643	153347643	+	Missense_Mutation	SNP	G	G	A	rs34438717		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:153347643G>A	uc003qpm.2	-	3	311	c.155C>T	c.(154-156)GCG>GTG	p.A52V		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	regulator of G-protein signalling 17	52					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			pancreas(1)	1		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		GGGTCTTCCCGCATTTTCCCC	0.388									Lung_Cancer_Familial_Clustering_of			
OPRM1	4988	broad.mit.edu	37	6	154411221	154411221	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:154411221G>A	uc003qpr.2	+	2	788	c.551G>A	c.(550-552)CGA>CAA	p.R184Q	OPRM1_uc011efb.1_Missense_Mutation_p.R232Q|OPRM1_uc011efc.1_Missense_Mutation_p.R103Q|OPRM1_uc011efd.1_Missense_Mutation_p.R84Q|OPRM1_uc011efe.1_Missense_Mutation_p.R277Q|OPRM1_uc003qpn.2_Missense_Mutation_p.R184Q|OPRM1_uc003qpo.1_Missense_Mutation_p.R184Q|OPRM1_uc011eff.1_Missense_Mutation_p.R184Q|OPRM1_uc011efg.1_Missense_Mutation_p.R184Q|OPRM1_uc011efh.1_Missense_Mutation_p.R184Q|OPRM1_uc003qpq.1_Missense_Mutation_p.R184Q|OPRM1_uc003qpt.1_Missense_Mutation_p.R184Q|OPRM1_uc011efi.1_Missense_Mutation_p.R184Q|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.R84Q|OPRM1_uc003qpu.2_Missense_Mutation_p.R84Q	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	184	Cytoplasmic (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	CGTACTCCCCGAAATGCCAAA	0.448												
ARID1B	57492	broad.mit.edu	37	6	157528937	157528937	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:157528937G>A	uc003qqn.2	+	20	6760	c.6608G>A	c.(6607-6609)CGG>CAG	p.R2203Q	ARID1B_uc003qqo.2_Missense_Mutation_p.R2163Q|ARID1B_uc003qqp.2_Missense_Mutation_p.R2150Q	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2208					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)		CACGAGGGCCGGTTGCTGGAT	0.507												
EZR	7430	broad.mit.edu	37	6	159188494	159188494	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:159188494C>A	uc003qrt.3	-	12	1610	c.1395G>T	c.(1393-1395)CTG>CTT	p.L465L	EZR_uc011efr.1_Silent_p.L72L|EZR_uc011efs.1_Silent_p.L433L|EZR_uc003qru.3_Silent_p.L465L	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	465	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CTGTCATCACCAGGTGCAGCT	0.587												
IGF2R	3482	broad.mit.edu	37	6	160490923	160490923	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:160490923G>A	uc003qta.2	+	31	4424	c.4276G>A	c.(4276-4278)GCG>ACG	p.A1426T		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1426	10.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGAAGCAGCCGCGTGTCTGCT	0.547												
PACRG	135138	broad.mit.edu	37	6	163735880	163735880	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:163735880A>T	uc003qua.2	+	7	976	c.752A>T	c.(751-753)GAC>GTC	p.D251V	PACRG_uc003qub.2_Missense_Mutation_p.D212V|PACRG_uc003quc.2_Missense_Mutation_p.D212V|LOC285796_uc011egh.1_Intron	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	parkin co-regulated gene protein isoform 1	251											0		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GACGGCATTGACTACAGCCAG	0.493												
T	6862	broad.mit.edu	37	6	166580169	166580169	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:166580169C>T	uc003quu.1	-	3	875	c.382G>A	c.(382-384)GAC>AAC	p.D128N	T_uc003qut.1_Missense_Mutation_p.D128N|T_uc003quv.1_Missense_Mutation_p.D128N	NM_003181	NP_003172	O15178	BRAC_HUMAN	transcription factor T	128	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)		TTGGGCGAGTCGGGGTGGATG	0.657									Chordoma_Familial_Clustering_of			
FRMD1	79981	broad.mit.edu	37	6	168462556	168462556	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:168462556C>T	uc003qwo.3	-	8	1041	c.976G>A	c.(976-978)GCC>ACC	p.A326T	FRMD1_uc003qwm.3_Missense_Mutation_p.A120T|FRMD1_uc011egs.1_Missense_Mutation_p.A97T|FRMD1_uc011egt.1_Missense_Mutation_p.A261T|FRMD1_uc003qwn.3_Missense_Mutation_p.A258T	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	FERM domain containing 1 isoform 1	326	FERM.					cytoskeleton	binding			ovary(1)	1		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGGTGGCTGGCGCGCAGCAGG	0.687												
FAM120B	84498	broad.mit.edu	37	6	170627989	170627989	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:170627989C>A	uc003qxp.2	+	2	1619	c.1511C>A	c.(1510-1512)TCC>TAC	p.S504Y	FAM120B_uc003qxo.1_Missense_Mutation_p.S504Y|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	504					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GGCCATGAATCCAAACAGGAA	0.413												
TBP	6908	broad.mit.edu	37	6	170871007	170871007	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:170871007A>G	uc003qxt.2	+	3	415	c.183A>G	c.(181-183)CAA>CAG	p.Q61Q	TBP_uc003qxu.2_Silent_p.Q61Q|TBP_uc011ehf.1_Silent_p.Q41Q|TBP_uc011ehg.1_Silent_p.Q61Q	NM_003194	NP_003185	P20226	TBP_HUMAN	TATA box binding protein	61	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacaacaacagc	0.194												
GET4	51608	broad.mit.edu	37	7	933385	933385	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:933385T>C	uc003sjl.1	+	7	847	c.755T>C	c.(754-756)CTG>CCG	p.L252P	GET4_uc003sjj.1_RNA	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	hypothetical protein LOC51608	252					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding				0						AGTGGGAAGCTGACGGTGTTC	0.622												
MAD1L1	8379	broad.mit.edu	37	7	1976414	1976414	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:1976414G>A	uc003slh.1	-	17	1982	c.1716C>T	c.(1714-1716)CGC>CGT	p.R572R	MAD1L1_uc003sle.1_Silent_p.R301R|MAD1L1_uc003slf.1_Silent_p.R572R|MAD1L1_uc003slg.1_Silent_p.R572R|MAD1L1_uc010ksh.1_Silent_p.R572R|MAD1L1_uc003sli.1_Silent_p.R480R|MAD1L1_uc010ksi.1_Silent_p.R525R|MAD1L1_uc010ksj.2_Silent_p.R572R|MAD1L1_uc003sld.1_Silent_p.R28R	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	572	Potential.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCAGGAGCCCGCGCAGTCGCT	0.692												
SDK1	221935	broad.mit.edu	37	7	4152942	4152942	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:4152942C>T	uc003smx.2	+	24	3595	c.3456C>T	c.(3454-3456)AAC>AAT	p.N1152N	SDK1_uc010kso.2_Silent_p.N428N	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1152	Fibronectin type-III 5.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCAAGTGAACATTGTTGGGC	0.542												
RBAK	57786	broad.mit.edu	37	7	5103477	5103477	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:5103477A>G	uc010kss.1	+	6	714	c.390A>G	c.(388-390)TCA>TCG	p.S130S	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Silent_p.S130S	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	130					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TTGTTCCTTCAAGCATAATAG	0.353												
ZNF12	7559	broad.mit.edu	37	7	6730955	6730955	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:6730955G>A	uc003sqt.1	-	5	2172	c.1618C>T	c.(1618-1620)CGG>TGG	p.R540W	ZNF12_uc011jxa.1_Missense_Mutation_p.R378W|ZNF12_uc003sqs.1_Missense_Mutation_p.R502W	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	540	C2H2-type 10.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGTATTCTCCGATGTCTACAA	0.388												
PHF14	9678	broad.mit.edu	37	7	11030400	11030400	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:11030400T>C	uc003sry.1	+	4	1406	c.971T>C	c.(970-972)GTT>GCT	p.V324A	PHF14_uc011jxi.1_Missense_Mutation_p.V39A|PHF14_uc003srz.2_Missense_Mutation_p.V324A|PHF14_uc011jxj.1_Missense_Mutation_p.V39A	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	324	PHD-type 1.						zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ATTTGCTGTGTTTGTCTGGGA	0.353												
DGKB	1607	broad.mit.edu	37	7	14880850	14880850	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:14880850C>T	uc003ssz.2	-	1	226	c.39G>A	c.(37-39)TCG>TCA	p.S13S	DGKB_uc011jxt.1_Silent_p.S13S|DGKB_uc003sta.2_Silent_p.S13S|DGKB_uc011jxu.1_Silent_p.S13S|DGKB_uc011jxv.1_Silent_p.S13S	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	13					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	GGGAAAATTCCGAAGGGCTGA	0.378												
DNAH11	8701	broad.mit.edu	37	7	21805143	21805143	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:21805143C>T	uc003svc.2	+	56	9090	c.9059C>T	c.(9058-9060)GCG>GTG	p.A3020V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3020	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TGGTTTCATGCGTGGCCGCAG	0.493									Kartagener_syndrome			
CDCA7L	55536	broad.mit.edu	37	7	21947920	21947920	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:21947920G>A	uc010kuk.2	-	4	629	c.509C>T	c.(508-510)GCA>GTA	p.A170V	CDCA7L_uc003sve.3_Missense_Mutation_p.A136V|CDCA7L_uc010kul.2_Missense_Mutation_p.A124V|CDCA7L_uc003svf.3_Missense_Mutation_p.A169V|CDCA7L_uc011jyk.1_Missense_Mutation_p.A170V	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	170					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						CTGTAAGCGTGCGCTAGAAAA	0.418												
DFNA5	1687	broad.mit.edu	37	7	24784283	24784283	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:24784283A>G	uc010kus.1	-	3	390	c.302T>C	c.(301-303)CTG>CCG	p.L101P	DFNA5_uc003swz.2_5'UTR|DFNA5_uc003sxa.1_Missense_Mutation_p.L101P|DFNA5_uc010kut.1_5'UTR|DFNA5_uc003sxb.2_Missense_Mutation_p.L101P|DFNA5_uc003sxc.2_Missense_Mutation_p.L101P	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5 protein isoform	101					sensory perception of sound					ovary(1)	1						CCCCAGGTTCAGCTTGACCTT	0.562												
HOXA6	3203	broad.mit.edu	37	7	27185490	27185490	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:27185490C>T	uc003syo.1	-	2	489	c.489G>A	c.(487-489)ACG>ACA	p.T163T	HOXA5_uc003syn.1_5'Flank|uc003syp.1_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	163	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TCTGGTAGCGCGTGTAGGTCT	0.662												
HOXA7	3204	broad.mit.edu	37	7	27196039	27196039	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:27196039C>T	uc003sys.2	-	1	258	c.126G>A	c.(124-126)GCG>GCA	p.A42A		NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	42					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding				0						CGCCGGCGCCCGCCCCGTAGC	0.612												
TAX1BP1	8887	broad.mit.edu	37	7	27805503	27805503	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:27805503A>G	uc003szl.2	+	4	474	c.316A>G	c.(316-318)ACC>GCC	p.T106A	TAX1BP1_uc011jzo.1_Missense_Mutation_p.T106A|TAX1BP1_uc003szk.2_Missense_Mutation_p.T106A|TAX1BP1_uc011jzp.1_Intron	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	106					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			CTGTTACGTTACCCATAAGGG	0.353												
SFRP4	6424	broad.mit.edu	37	7	37955852	37955852	+	Silent	SNP	C	C	T	rs143563677		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:37955852C>T	uc003tfo.3	-	1	674	c.288G>A	c.(286-288)CCG>CCA	p.P96P		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	96	FZ.				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						CCGACTTGCACGGCTTGATAG	0.632												
GLI3	2737	broad.mit.edu	37	7	42005961	42005961	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:42005961G>A	uc011kbh.1	-	15	2801	c.2710C>T	c.(2710-2712)CGC>TGC	p.R904C	GLI3_uc011kbg.1_Missense_Mutation_p.R845C	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	904					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						CTGGAGCGGCGCGAGGCGTCG	0.721									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
HECW1	23072	broad.mit.edu	37	7	43508671	43508671	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:43508671G>A	uc003tid.1	+	16	3671	c.3066G>A	c.(3064-3066)CGG>CGA	p.R1022R	HECW1_uc011kbi.1_Silent_p.R988R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1022	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						AACTGCCCCGGGGCTGGGAGA	0.567												
URGCP	55665	broad.mit.edu	37	7	43917152	43917152	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:43917152G>T	uc003tiw.2	-	6	1967	c.1910C>A	c.(1909-1911)CCG>CAG	p.P637Q	URGCP_uc003tiu.2_Missense_Mutation_p.P594Q|URGCP_uc003tiv.2_Missense_Mutation_p.P562Q|URGCP_uc003tix.2_Missense_Mutation_p.P628Q|URGCP_uc003tiy.2_Missense_Mutation_p.P594Q|URGCP_uc003tiz.2_Missense_Mutation_p.P594Q|URGCP_uc011kbj.1_Missense_Mutation_p.P594Q	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	637					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						CTGGCCTGCCGGCAGCCTCCC	0.627												
EGFR	1956	broad.mit.edu	37	7	55221711	55221711	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:55221711G>A	uc003tqk.2	+	7	1001	c.755G>A	c.(754-756)CGC>CAC	p.R252H	EGFR_uc003tqh.2_Missense_Mutation_p.R252H|EGFR_uc003tqi.2_Missense_Mutation_p.R252H|EGFR_uc003tqj.2_Missense_Mutation_p.R252H|EGFR_uc010kzg.1_Missense_Mutation_p.R207H|EGFR_uc011kco.1_Missense_Mutation_p.R199H|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	252	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(1)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAGGTCTGCCGCAAATTCCGA	0.587		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
PHKG1	5260	broad.mit.edu	37	7	56150999	56150999	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:56150999G>A	uc003trz.1	-	6	714	c.519C>T	c.(517-519)TGC>TGT	p.C173C	PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Silent_p.C67C|PHKG1_uc011kdb.1_Silent_p.C205C|PHKG1_uc011kdc.1_Silent_p.C164C|PHKG1_uc011kdd.1_Silent_p.C119C	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	phosphorylase kinase gamma subunit 1	173	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			large_intestine(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTCCAGCTGGCAGGAAAAGC	0.547												
ZNF680	340252	broad.mit.edu	37	7	63982037	63982037	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:63982037A>G	uc003tta.2	-	4	1268	c.1095T>C	c.(1093-1095)CTT>CTC	p.L365L	ZNF680_uc010kzr.2_Silent_p.L292L	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	365	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				TATGTCTAGTAAGGTTTGCAA	0.348												
AUTS2	26053	broad.mit.edu	37	7	69599557	69599557	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:69599557C>T	uc003tvw.3	+	4	1403	c.660C>T	c.(658-660)TTC>TTT	p.F220F	AUTS2_uc003tvv.3_Silent_p.F220F|AUTS2_uc003tvx.3_Silent_p.F220F	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	220										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)		CAGGCTACTTCGTAAGTCTAT	0.378												
STAG3L3	442578	broad.mit.edu	37	7	72470008	72470008	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:72470008C>A	uc003txd.3	-	6	849	c.333G>T	c.(331-333)CTG>CTT	p.L111L	FKBP6_uc003twz.2_Intron|STAG3L3_uc011kem.1_RNA|STAG3L3_uc003txa.2_RNA|STAG3L3_uc010laq.1_RNA	NM_001013739	NP_001013761	P0CL85	ST3L3_HUMAN	stromal antigen 3-like 3	111						nucleus	binding				0		Lung NSC(55;0.197)				GGATAAGTATCAGTAATCTGA	0.502												
CLIP2	7461	broad.mit.edu	37	7	73790714	73790714	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:73790714G>A	uc003uam.2	+	10	2310	c.1983G>A	c.(1981-1983)CAG>CAA	p.Q661Q	CLIP2_uc003uan.2_Silent_p.Q626Q|CLIP2_uc003uao.2_Silent_p.Q55Q	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	661						microtubule associated complex				skin(3)	3						TGGAGCACCAGCTGGAGCTGG	0.627												
GTF2IRD1	9569	broad.mit.edu	37	7	73973307	73973307	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:73973307A>G	uc003uaq.2	+	21	2662	c.2269A>G	c.(2269-2271)ACC>GCC	p.T757A	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.T774A|GTF2IRD1_uc003uap.2_Missense_Mutation_p.T742A|GTF2IRD1_uc003uar.1_Missense_Mutation_p.T742A	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	757	GTF2I-like 4.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						AAAGCCCTGTACCTTCGGCTC	0.582												
SEMA3C	10512	broad.mit.edu	37	7	80374453	80374453	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:80374453C>T	uc003uhj.2	-	18	2575	c.2013G>A	c.(2011-2013)ACG>ACA	p.T671T	SEMA3C_uc011kgw.1_Silent_p.T689T	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	671					immune response|response to drug	membrane	receptor activity			ovary(1)	1						ACCATTTGTCCGTCACAACAG	0.473												
PCLO	27445	broad.mit.edu	37	7	82582077	82582077	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:82582077C>T	uc003uhx.2	-	5	8481	c.8192G>A	c.(8191-8193)CGT>CAT	p.R2731H	PCLO_uc003uhv.2_Missense_Mutation_p.R2731H|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2662					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TGGTACTGTACGCAAATCAAT	0.353												
CCDC132	55610	broad.mit.edu	37	7	92926489	92926489	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:92926489G>A	uc003umo.2	+	16	1423	c.1295G>A	c.(1294-1296)AGC>AAC	p.S432N	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.S402N|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.S152N	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	432											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTGTGGTAGCAAGTCTGAA	0.323												
TRRAP	8295	broad.mit.edu	37	7	98608720	98608720	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:98608720C>T	uc003upp.2	+	70	11151	c.10942C>T	c.(10942-10944)CGC>TGC	p.R3648C	TRRAP_uc011kis.1_Missense_Mutation_p.R3619C|TRRAP_uc003upr.2_Missense_Mutation_p.R3354C|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3648	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CATGGTGCCGCGCAGCATGCT	0.547												
SMURF1	57154	broad.mit.edu	37	7	98647228	98647228	+	Missense_Mutation	SNP	C	C	T	rs139427854		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:98647228C>T	uc003upu.1	-	10	1309	c.989G>A	c.(988-990)CGA>CAA	p.R330Q	SMURF1_uc003upv.1_Missense_Mutation_p.R304Q|SMURF1_uc003upt.2_Missense_Mutation_p.R304Q	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	330	WW 2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CTGGGTTGTTCGGTTATTATG	0.398												
PTCD1	26024	broad.mit.edu	37	7	99030941	99030941	+	Missense_Mutation	SNP	C	C	T	rs150185353		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:99030941C>T	uc003uqh.2	-	3	685	c.554G>A	c.(553-555)CGG>CAG	p.R185Q	PTCD1_uc011kiw.1_Missense_Mutation_p.R234Q	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	185	PPR 2.									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)		STAD - Stomach adenocarcinoma(171;0.215)			GTAGCCAACCCGCCCGCAGCC	0.403												
STAG3	10734	broad.mit.edu	37	7	99809071	99809071	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:99809071G>A	uc003utx.1	+	31	3579	c.3424G>A	c.(3424-3426)GCA>ACA	p.A1142T	STAG3_uc011kjk.1_Missense_Mutation_p.A1084T|GATS_uc003uty.3_RNA|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.A367T|GATS_uc011kjl.1_RNA|GATS_uc010lgu.2_RNA	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1142					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAGCCCGTCGCAGGCACCGA	0.517												
C7orf51	222950	broad.mit.edu	37	7	100086272	100086272	+	Missense_Mutation	SNP	C	C	T	rs138038785		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:100086272C>T	uc003uvd.1	+	4	1087	c.928C>T	c.(928-930)CGG>TGG	p.R310W	C7orf51_uc003uve.1_Missense_Mutation_p.R92W	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	310	Pro-rich.									skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCCGAGCCGGAGGGACGG	0.687												
GIGYF1	64599	broad.mit.edu	37	7	100284638	100284638	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:100284638G>A	uc003uwg.1	-	6	1523	c.514C>T	c.(514-516)CGG>TGG	p.R172W		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	172										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCTCCATCCCGCCTTGCTGAC	0.652												
TRIM56	81844	broad.mit.edu	37	7	100732110	100732110	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:100732110G>A	uc003uxq.2	+	3	1748	c.1517G>A	c.(1516-1518)CGG>CAG	p.R506Q	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	506					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAGACAAGCGGTCCCCCCGG	0.662												
RELN	5649	broad.mit.edu	37	7	103230147	103230147	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:103230147G>A	uc003vca.2	-	28	4201	c.4041C>T	c.(4039-4041)TGC>TGT	p.C1347C	RELN_uc010liz.2_Silent_p.C1347C	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1347					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTTTCCTTCGCATCCTTTGC	0.473												
LHFPL3	375612	broad.mit.edu	37	7	103969403	103969403	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:103969403A>G	uc003vce.2	+	1	300	c.176A>G	c.(175-177)TAC>TGC	p.Y59C	LHFPL3_uc003vcf.2_Missense_Mutation_p.Y59C	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	45						integral to membrane					0						ATCCAGCCCTACTGGATAGGC	0.622												
COG5	10466	broad.mit.edu	37	7	107188756	107188756	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:107188756G>A	uc003ved.2	-	4	932	c.407C>T	c.(406-408)ACG>ATG	p.T136M	COG5_uc003vec.2_Missense_Mutation_p.T136M|COG5_uc003vee.2_Missense_Mutation_p.T136M	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	136					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CCCAATTCTCGTCTGCATCAT	0.323												
BCAP29	55973	broad.mit.edu	37	7	107240915	107240915	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:107240915A>G	uc003vej.2	+	6	893	c.554A>G	c.(553-555)GAG>GGG	p.E185G	BCAP29_uc011kly.1_Missense_Mutation_p.E91G|BCAP29_uc011klz.1_Missense_Mutation_p.E185G|BCAP29_uc011kma.1_Missense_Mutation_p.E185G	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	185	Cytoplasmic (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2						GAAGACCAGGAGAAACTGAAA	0.328												
PPP1R3A	5506	broad.mit.edu	37	7	113518179	113518179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:113518179C>A	uc010ljy.1	-	4	2999	c.2968G>T	c.(2968-2970)GAA>TAA	p.E990*		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	990					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						ATGCATCTTTCTTTTCTACTA	0.383												
PPP1R3A	5506	broad.mit.edu	37	7	113519890	113519890	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:113519890C>A	uc010ljy.1	-	4	1288	c.1257G>T	c.(1255-1257)TTG>TTT	p.L419F		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	419					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						TAGTATCTCCCAATGATGGCT	0.403												
CADPS2	93664	broad.mit.edu	37	7	122130140	122130140	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:122130140T>C	uc010lkp.2	-	11	2010	c.1847A>G	c.(1846-1848)CAG>CGG	p.Q616R	CADPS2_uc003vkg.3_Missense_Mutation_p.Q316R|CADPS2_uc010lkq.2_Missense_Mutation_p.Q616R	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	616					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						CTTACAAAGCTGAGCATCTGC	0.328												
RBM28	55131	broad.mit.edu	37	7	127978327	127978327	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:127978327C>T	uc003vmp.2	-	5	633	c.518G>A	c.(517-519)GGC>GAC	p.G173D	RBM28_uc003vmo.2_5'Flank|RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Missense_Mutation_p.G120D	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	173	RRM 2.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2						CATGTTCATGCCTTTGAGAGC	0.398												
FAM71F2	346653	broad.mit.edu	37	7	128320141	128320141	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:128320141G>A	uc003vnk.3	+	4	778	c.672G>A	c.(670-672)GCG>GCA	p.A224A	FAM71F2_uc010llm.1_Silent_p.A215A|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN	hypothetical protein LOC346653 isoform a	224											0						TGCTGCTGGCGGCTGAGCAGA	0.602												
PLXNA4	91584	broad.mit.edu	37	7	131825418	131825418	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:131825418G>A	uc003vra.3	-	30	5607	c.5378C>T	c.(5377-5379)TCG>TTG	p.S1793L	PLXNA4_uc003vqz.3_Missense_Mutation_p.S78L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1793	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						GTTGGAGGGCGAGTCCTTGCC	0.587												
PLXNA4	91584	broad.mit.edu	37	7	131865446	131865446	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:131865446T>C	uc003vra.3	-	19	3767	c.3538A>G	c.(3538-3540)AAC>GAC	p.N1180D		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1180	IPT/TIG 4.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						ACAGTGTAGTTCAGCTTCACG	0.587												
WDR91	29062	broad.mit.edu	37	7	134878103	134878103	+	Silent	SNP	C	C	T	rs148472782	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:134878103C>T	uc003vsp.2	-	11	1601	c.1539G>A	c.(1537-1539)TCG>TCA	p.S513S	WDR91_uc010lmq.2_Silent_p.S102S|WDR91_uc010lmr.2_RNA	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	513										breast(2)|ovary(1)|skin(1)	4						GAGCTGCTGCCGAACAGACGA	0.622												
KLRG2	346689	broad.mit.edu	37	7	139168256	139168256	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:139168256C>T	uc003vvb.2	-	1	202	c.133G>A	c.(133-135)GAA>AAA	p.E45K	KLRG2_uc010lnc.2_Missense_Mutation_p.E45K	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	45	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					GGGCTGCTTTCGGGACCTTCA	0.716												
HIPK2	28996	broad.mit.edu	37	7	139416323	139416323	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:139416323C>T	uc003vvf.3	-	2	685	c.511G>A	c.(511-513)GCC>ACC	p.A171T	HIPK2_uc003vvd.3_Missense_Mutation_p.A171T	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	171	Transcriptional corepression (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			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					TTGGAGGTGGCAGTAGACGTG	0.557												
HIPK2	28996	broad.mit.edu	37	7	139416429	139416429	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:139416429G>A	uc003vvf.3	-	2	579	c.405C>T	c.(403-405)AGC>AGT	p.S135S	HIPK2_uc003vvd.3_Silent_p.S135S	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	135	Transcriptional corepression (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			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					CGATCTCCTCGCTCTTACGCT	0.552												
MGAM	8972	broad.mit.edu	37	7	141803097	141803097	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:141803097A>T	uc003vwy.2	+	47	5408	c.5354A>T	c.(5353-5355)AAC>ATC	p.N1785I		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1785	Glucoamylase.|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)	ATAATTTTCAACAATTACATC	0.378												
SSPO	23145	broad.mit.edu	37	7	149489805	149489805	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:149489805G>A	uc010lpk.2	+	39	5861	c.5861G>A	c.(5860-5862)CGC>CAC	p.R1954H		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1954	TSP type-1 3.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCATCCACCGCAAGGCACGC	0.687												
ATP6V0E2	155066	broad.mit.edu	37	7	149576655	149576655	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:149576655G>A	uc003wgr.2	+	4	1551	c.600G>A	c.(598-600)CCG>CCA	p.P200P	ATP6V0E2_uc003wgs.2_Silent_p.P177P|ATP6V0E2_uc003wgp.2_3'UTR|ATP6V0E2_uc003wgq.2_RNA|uc003wgt.1_5'Flank	NM_145230	NP_660265	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting, V0 subunit isoform 1	Error:Variant_position_missing_in_Q8NHE4_after_alignment					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			TCCAATACCCGCACTGCTCTG	0.632												
GIMAP8	155038	broad.mit.edu	37	7	150174633	150174633	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:150174633G>A	uc003whj.2	+	5	2093	c.1763G>A	c.(1762-1764)CGG>CAG	p.R588Q		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	588						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AAAGCCCTTCGGCGCATTTTT	0.468												
ABCF2	10061	broad.mit.edu	37	7	150920903	150920903	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:150920903G>A	uc003wjp.2	-	5	694	c.583C>T	c.(583-585)CGC>TGC	p.R195C	ABCF2_uc003wjo.1_Missense_Mutation_p.R195C	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F, member 2	195	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTCCAGGCGCTCGTAGAGC	0.602												
CSMD1	64478	broad.mit.edu	37	8	2949052	2949052	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:2949052T>G	uc011kwk.1	-	48	7664	c.7274A>C	c.(7273-7275)AAG>ACG	p.K2425T	CSMD1_uc011kwj.1_Missense_Mutation_p.K1754T|CSMD1_uc010lrg.2_Missense_Mutation_p.K493T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2425	CUB 14.|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)		ATAGCGAATCTTGAATCCTTT	0.313												
CSMD1	64478	broad.mit.edu	37	8	3265576	3265576	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:3265576G>A	uc011kwk.1	-	14	2309	c.1919C>T	c.(1918-1920)GCG>GTG	p.A640V	CSMD1_uc011kwj.1_Missense_Mutation_p.A32V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	640	Extracellular (Potential).|CUB 4.					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)		ATCCTTGACCGCGAGAAAGTC	0.453												
XKR5	389610	broad.mit.edu	37	8	6681079	6681079	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:6681079A>G	uc003wqp.2	-	4	623	c.601T>C	c.(601-603)TAC>CAC	p.Y201H	XKR5_uc003wqq.2_Missense_Mutation_p.Y38H|XKR5_uc003wqr.1_RNA	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	XK-related protein 5a	201						integral to membrane					0			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TAGGCTTTGTAGAACAGAACC	0.448												
SGK223	157285	broad.mit.edu	37	8	8234140	8234140	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:8234140G>A	uc003wsh.3	-	2	1779	c.1779C>T	c.(1777-1779)CCC>CCT	p.P593P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	593			P -> A.				ATP binding|non-membrane spanning protein tyrosine kinase activity				0						AGGAAGGAGCGGGGTCAGCAG	0.672												
CTSB	1508	broad.mit.edu	37	8	11710861	11710861	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:11710861T>C	uc003wum.2	-	4	427	c.103A>G	c.(103-105)AAC>GAC	p.N35D	CTSB_uc011kxl.1_Intron|CTSB_uc003wun.2_Missense_Mutation_p.N35D|CTSB_uc003wuo.2_Missense_Mutation_p.N35D|CTSB_uc003wup.2_Missense_Mutation_p.N35D|CTSB_uc003wuq.2_Missense_Mutation_p.N35D|CTSB_uc010lsc.2_5'UTR|CTSB_uc003wur.2_Missense_Mutation_p.N35D|CTSB_uc003wus.1_Missense_Mutation_p.N35D|CTSB_uc003wut.1_Missense_Mutation_p.N35D	NM_147780	NP_680090	P07858	CATB_HUMAN	cathepsin B preproprotein	35					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity				0	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		TTCCGTTTGTTGACATAGTTG	0.607												
LONRF1	91694	broad.mit.edu	37	8	12589277	12589277	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:12589277T>A	uc003wwd.1	-	8	1719	c.1656A>T	c.(1654-1656)AAA>AAT	p.K552N	LONRF1_uc011kxv.1_Missense_Mutation_p.K141N|LONRF1_uc010lsp.1_Missense_Mutation_p.K152N	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	552					proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)		CATCATATATTTTTTTTCTCT	0.348												
DLC1	10395	broad.mit.edu	37	8	13357501	13357501	+	Missense_Mutation	SNP	C	C	T	rs11990333	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:13357501C>T	uc003wwm.2	-	2	524	c.80G>A	c.(79-81)CGT>CAT	p.R27H	DLC1_uc003wwn.2_Missense_Mutation_p.R27H|DLC1_uc011kxy.1_Missense_Mutation_p.R27H	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	27					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						TGCTGTGTTACGATCATCAGA	0.433												
MTUS1	57509	broad.mit.edu	37	8	17510955	17510955	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:17510955A>G	uc003wxv.2	-	11	3741	c.3267T>C	c.(3265-3267)TCT>TCC	p.S1089S	MTUS1_uc003wxt.2_Silent_p.S336S|MTUS1_uc011kyg.1_Silent_p.S234S|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.S1035S|MTUS1_uc003wxs.2_Silent_p.S255S	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	1089	Potential.					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		CCTGCTTCTCAGAAAGTAAAT	0.333												
ATP6V1B2	526	broad.mit.edu	37	8	20077858	20077858	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:20077858G>A	uc003wzp.2	+	14	1695	c.1481G>A	c.(1480-1482)AGA>AAA	p.R494K	ATP6V1B2_uc003wzq.1_RNA	NM_001693	NP_001684	P21281	VATB2_HUMAN	vacuolar H+ATPase B2	494					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		ATGCTGAAGAGAATCCCTCAG	0.463												
LZTS1	11178	broad.mit.edu	37	8	20107358	20107358	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:20107358G>A	uc003wzr.2	-	3	1777	c.1666C>T	c.(1666-1668)CGG>TGG	p.R556W	LZTS1_uc010ltg.1_Missense_Mutation_p.R497W	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	556					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CGCTGGTTCCGCTGGTACATG	0.627												
TNFRSF10C	8794	broad.mit.edu	37	8	22969281	22969281	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:22969281C>T	uc003xcy.2	+	2	310	c.109C>T	c.(109-111)CAG>TAG	p.Q37*	TNFRSF10C_uc011kzr.1_Intron	NM_003841	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily,	37	TNFR-Cys 1.				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AGTTCCCCAGCAGACAGTGGC	0.512												
LOXL2	4017	broad.mit.edu	37	8	23198563	23198563	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:23198563C>T	uc003xdh.1	-	4	1024	c.685G>A	c.(685-687)GTG>ATG	p.V229M	uc003xdj.2_RNA|uc003xdi.2_RNA	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	229	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCGCAGACCACGCGGGAATTC	0.572												
ADAM7	8756	broad.mit.edu	37	8	24358377	24358377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:24358377C>T	uc003xeb.2	+	19	2190	c.2077C>T	c.(2077-2079)CGA>TGA	p.R693*	ADAM7_uc003xec.2_Nonsense_Mutation_p.R465*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	693	Cytoplasmic (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGTTCGTTACCGAAAATGTAT	0.368												
NEFL	4747	broad.mit.edu	37	8	24813797	24813797	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:24813797G>T	uc003xee.2	-	1	335	c.233C>A	c.(232-234)GCC>GAC	p.A78D		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	78	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)		GTTGCTGATGGCGGCTACCTG	0.637												
CDCA2	157313	broad.mit.edu	37	8	25365147	25365147	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:25365147A>G	uc003xep.1	+	15	3444	c.2965A>G	c.(2965-2967)ACT>GCT	p.T989A	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.T974A|CDCA2_uc003xer.1_Missense_Mutation_p.T652A	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	989					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TACTAAAGCCACTTCCCAGTT	0.463												
DPYSL2	1808	broad.mit.edu	37	8	26441410	26441410	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:26441410G>A	uc003xfb.1	+	3	574	c.224G>A	c.(223-225)CGT>CAT	p.R75H	DPYSL2_uc003xfa.2_Missense_Mutation_p.R180H|DPYSL2_uc011lag.1_Missense_Mutation_p.R75H|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Missense_Mutation_p.R39H	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	75					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			large_intestine(1)	1		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTCCACACTCGTTTCCAGATG	0.522												
SCARA5	286133	broad.mit.edu	37	8	27779142	27779142	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:27779142G>A	uc003xgj.2	-	4	1302	c.862C>T	c.(862-864)CGC>TGC	p.R288C	SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Missense_Mutation_p.R245C|SCARA5_uc003xgl.2_Missense_Mutation_p.R288C	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	288	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)		TCCTTGAGGCGCAGGTCCTCG	0.677												
HMBOX1	79618	broad.mit.edu	37	8	28827640	28827640	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:28827640G>A	uc003xhd.3	+	3	446	c.104G>A	c.(103-105)CGT>CAT	p.R35H	HMBOX1_uc010lvd.2_Missense_Mutation_p.R35H|HMBOX1_uc003xhc.3_Missense_Mutation_p.R35H|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.R35H|HMBOX1_uc011lay.1_Missense_Mutation_p.R35H|HMBOX1_uc003xhf.2_Missense_Mutation_p.R23H|HMBOX1_uc003xhg.2_Missense_Mutation_p.R23H	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN	homeobox containing 1	35					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CGACTTCGGCGTACTGGAATG	0.403												
KCNU1	157855	broad.mit.edu	37	8	36766906	36766906	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:36766906G>A	uc010lvw.2	+	21	2271	c.2184G>A	c.(2182-2184)CCG>CCA	p.P728P	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	728	Segment S9.|Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTCAGCCCCGATGGGGCTTC	0.468												
ADRB3	155	broad.mit.edu	37	8	37823528	37823528	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:37823528C>T	uc003xkr.1	-	1	657	c.460G>A	c.(460-462)GCC>ACC	p.A154T		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	154	Cytoplasmic (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)	GCTGTCCGGGCGCAGCGCTTG	0.692												
HTRA4	203100	broad.mit.edu	37	8	38834063	38834063	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:38834063C>T	uc003xmj.2	+	3	691	c.576C>T	c.(574-576)CAC>CAT	p.H192H		NM_153692	NP_710159	P83105	HTRA4_HUMAN	HtrA serine peptidase 4 precursor	192					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GGTTACTTCACGGCAGCAGGC	0.473												
ANK1	286	broad.mit.edu	37	8	41581120	41581120	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:41581120C>T	uc003xok.2	-	8	827	c.743G>A	c.(742-744)CGC>CAC	p.R248H	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.R248H|ANK1_uc003xoj.2_Missense_Mutation_p.R248H|ANK1_uc003xol.2_Missense_Mutation_p.R248H|ANK1_uc003xom.2_Missense_Mutation_p.R281H	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	248	ANK 7.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTTGCCCCTGCGGGAGGCGAT	0.637												
PLAT	5327	broad.mit.edu	37	8	42038027	42038027	+	Missense_Mutation	SNP	C	C	T	rs140012141		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:42038027C>T	uc003xos.2	-	10	1275	c.1066G>A	c.(1066-1068)GCC>ACC	p.A356T	PLAT_uc010lxf.1_Missense_Mutation_p.A273T|PLAT_uc010lxg.1_Missense_Mutation_p.A181T|PLAT_uc003xot.2_Missense_Mutation_p.A310T|PLAT_uc011lcm.1_Missense_Mutation_p.A267T|PLAT_uc011lcn.1_Missense_Mutation_p.A230T	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	356	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAGCAGTGGGCGGCAGAGAGA	0.592												
SLC20A2	6575	broad.mit.edu	37	8	42294680	42294680	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:42294680G>A	uc010lxl.2	-	8	2044	c.1350C>T	c.(1348-1350)GGC>GGT	p.G450G	SLC20A2_uc010lxm.2_Silent_p.G450G|SLC20A2_uc003xpe.2_Silent_p.G450G|SLC20A2_uc011lcu.1_Silent_p.G252G	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	450	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCTCCACGCCGCCCTCCTCCG	0.652												
SLC20A2	6575	broad.mit.edu	37	8	42295010	42295010	+	Silent	SNP	G	G	A	rs141611151		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:42295010G>A	uc010lxl.2	-	8	1714	c.1020C>T	c.(1018-1020)GAC>GAT	p.D340D	SLC20A2_uc010lxm.2_Silent_p.D340D|SLC20A2_uc003xpe.2_Silent_p.D340D|SLC20A2_uc011lcu.1_Silent_p.D142D	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	340	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACACATGACCGTCGCTCCTGG	0.577												
KIAA0146	23514	broad.mit.edu	37	8	48309123	48309123	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:48309123C>A	uc003xqd.2	+	6	722	c.713C>A	c.(712-714)CCT>CAT	p.P238H	KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Missense_Mutation_p.P238H|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.P168H|KIAA0146_uc011ldd.1_Missense_Mutation_p.P178H|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	238											0		Lung NSC(58;0.175)				TTGCATACACCTCAGAAACCC	0.378												
PRKDC	5591	broad.mit.edu	37	8	48772185	48772185	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:48772185C>T	uc003xqi.2	-	47	6251	c.6194G>A	c.(6193-6195)CGT>CAT	p.R2065H	PRKDC_uc003xqj.2_Missense_Mutation_p.R2065H|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2065					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCTCCGAAAACGACCAGTGGC	0.458								NHEJ				
SNTG1	54212	broad.mit.edu	37	8	51449331	51449331	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:51449331C>T	uc010lxy.1	+	12	1014	c.643C>T	c.(643-645)CGC>TGC	p.R215C	SNTG1_uc003xqs.1_Missense_Mutation_p.R215C|SNTG1_uc010lxz.1_Missense_Mutation_p.R215C|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	215					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACTTCATTCGCGCTTCTCTCA	0.488												
PXDNL	137902	broad.mit.edu	37	8	52320920	52320920	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:52320920C>T	uc003xqu.3	-	17	3365	c.3264G>A	c.(3262-3264)CCG>CCA	p.P1088P	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1088					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.P287P(1)		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)				TTATTCTGGACGGTGAAAAGA	0.517												
PXDNL	137902	broad.mit.edu	37	8	52321557	52321557	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:52321557G>A	uc003xqu.3	-	17	2728	c.2627C>T	c.(2626-2628)GCG>GTG	p.A876V	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	876					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)				ATCCACCGTCGCAGAGGGACG	0.657												
SDR16C5	195814	broad.mit.edu	37	8	57224836	57224836	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:57224836T>C	uc003xsy.1	-	3	983	c.345A>G	c.(343-345)GAA>GAG	p.E115E	SDR16C5_uc010lyk.1_Silent_p.E115E|SDR16C5_uc010lyl.1_Intron	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	115					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CATCGCCGACTTCTTTTTTAA	0.373												
CHD7	55636	broad.mit.edu	37	8	61654248	61654248	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:61654248C>T	uc003xue.2	+	2	734	c.257C>T	c.(256-258)CCG>CTG	p.P86L		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	86					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|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			ATGGATCAGCCGAACAGAATG	0.483												
CHD7	55636	broad.mit.edu	37	8	61777711	61777711	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:61777711C>T	uc003xue.2	+	38	8690	c.8213C>T	c.(8212-8214)ACG>ATG	p.T2738M		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2738					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|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		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)			GTGGCCTCCACGTCAGGGATC	0.612												
PREX2	80243	broad.mit.edu	37	8	69009291	69009291	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:69009291G>A	uc003xxv.1	+	22	2435	c.2408G>A	c.(2407-2409)GGG>GAG	p.G803E	PREX2_uc003xxu.1_Missense_Mutation_p.G803E|PREX2_uc011lez.1_Missense_Mutation_p.G738E	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	803					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ATCATTGATGGGAAGAAGGAG	0.423												
TRAM1	23471	broad.mit.edu	37	8	71512313	71512313	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:71512313G>A	uc003xyo.1	-	2	298	c.128C>T	c.(127-129)ACG>ATG	p.T43M	TRAM1_uc011lfc.1_Missense_Mutation_p.T12M	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	43	Helical; (Potential).				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AGCTTTTGCCGTTATCTACAA	0.363												
EYA1	2138	broad.mit.edu	37	8	72127733	72127733	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:72127733C>T	uc003xys.3	-	15	1773	c.1486G>A	c.(1486-1488)GTG>ATG	p.V496M	EYA1_uc003xyr.3_Missense_Mutation_p.V461M|EYA1_uc003xyt.3_Missense_Mutation_p.V463M|EYA1_uc010lzf.2_Missense_Mutation_p.V423M|EYA1_uc003xyu.2_Missense_Mutation_p.V496M|EYA1_uc011lfe.1_Missense_Mutation_p.V490M|EYA1_uc003xyv.2_Missense_Mutation_p.V374M	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	496					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)			AAAATATTCACACAGTTTGTC	0.378												
FAM164A	51101	broad.mit.edu	37	8	79601500	79601500	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:79601500T>C	uc003ybd.2	+	5	498	c.396T>C	c.(394-396)AAT>AAC	p.N132N		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	132										ovary(1)	1						TCAATGAAAATGCAGCTGATA	0.323												
SNX16	64089	broad.mit.edu	37	8	82751883	82751883	+	Silent	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:82751883C>A	uc011lft.1	-	3	846	c.339G>T	c.(337-339)CTG>CTT	p.L113L	SNX16_uc003ycn.2_Silent_p.L113L|SNX16_uc003yco.2_Silent_p.L113L	NM_022133	NP_071416	P57768	SNX16_HUMAN	sorting nexin 16 isoform a	113	PX.				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			ovary(1)|pancreas(1)	2						CTTCATAACCCAGTATAGTAG	0.373												
RALYL	138046	broad.mit.edu	37	8	85441713	85441713	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:85441713G>A	uc003ycq.3	+	3	573	c.157G>A	c.(157-159)GTT>ATT	p.V53I	RALYL_uc003ycr.3_Missense_Mutation_p.V53I|RALYL_uc003ycs.3_Missense_Mutation_p.V53I|RALYL_uc010lzy.2_Missense_Mutation_p.V53I|RALYL_uc003yct.3_Missense_Mutation_p.V66I	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	53	RRM.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						TGGATGTTCCGTTCACAAAGG	0.438												
POP1	10940	broad.mit.edu	37	8	99142350	99142350	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:99142350C>T	uc003yij.3	+	5	731	c.631C>T	c.(631-633)CGG>TGG	p.R211W	POP1_uc011lgv.1_Missense_Mutation_p.R211W|POP1_uc003yik.2_Missense_Mutation_p.R211W	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	211					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCACGCCAAGCGGTTTCATAT	0.502												
SPAG1	6674	broad.mit.edu	37	8	101232550	101232550	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:101232550C>T	uc003yjh.1	+	13	1665	c.1579C>T	c.(1579-1581)CGG>TGG	p.R527W	SPAG1_uc003yji.1_Missense_Mutation_p.R527W	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	sperm associated antigen 1	527	TPR 6.				single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TCTTCTGAGGCGGGCGATGGC	0.398												
RIMS2	9699	broad.mit.edu	37	8	104948865	104948865	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:104948865G>A	uc003yls.2	+	11	2037	c.1796G>A	c.(1795-1797)CGA>CAA	p.R599Q	RIMS2_uc003ylp.2_Missense_Mutation_p.R821Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R613Q|RIMS2_uc003ylq.2_Missense_Mutation_p.R613Q|RIMS2_uc003ylr.2_Missense_Mutation_p.R660Q|RIMS2_uc003ylt.2_Missense_Mutation_p.R206Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	883	C2 1.				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)			CCAGTCCACCGAAGAGAATTT	0.388										HNSCC(12;0.0054)		
RIMS2	9699	broad.mit.edu	37	8	105261777	105261777	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:105261777C>T	uc003yls.2	+	26	3947	c.3706C>T	c.(3706-3708)CGT>TGT	p.R1236C	RIMS2_uc003ylp.2_Missense_Mutation_p.R1218C|RIMS2_uc003ylw.2_Missense_Mutation_p.R1225C|RIMS2_uc003ylq.2_Missense_Mutation_p.R1032C|RIMS2_uc003ylr.2_Missense_Mutation_p.R1057C	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1280	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CATCCGGGCCCGTGGCCTTGT	0.393										HNSCC(12;0.0054)		
SYBU	55638	broad.mit.edu	37	8	110655088	110655088	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:110655088T>C	uc003ynj.3	-	2	261	c.98A>G	c.(97-99)CAT>CGT	p.H33R	SYBU_uc003yni.3_Missense_Mutation_p.H30R|SYBU_uc003ynk.3_Intron|SYBU_uc010mco.2_Missense_Mutation_p.H32R|SYBU_uc003ynl.3_Missense_Mutation_p.H32R|SYBU_uc010mcp.2_Missense_Mutation_p.H33R|SYBU_uc010mcq.2_Missense_Mutation_p.H33R|SYBU_uc003yno.3_Intron|SYBU_uc010mcr.2_Missense_Mutation_p.H33R|SYBU_uc003ynm.3_Missense_Mutation_p.H32R|SYBU_uc003ynn.3_Missense_Mutation_p.H32R|SYBU_uc010mcs.2_Intron|SYBU_uc010mct.2_Missense_Mutation_p.H33R|SYBU_uc010mcu.2_Missense_Mutation_p.H32R|SYBU_uc003ynp.3_Intron|SYBU_uc010mcv.2_Missense_Mutation_p.H33R|uc003ynq.1_5'Flank	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	33	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						TTGGGGCATATGGGGCCGAAG	0.512												
TNFRSF11B	4982	broad.mit.edu	37	8	119938902	119938902	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:119938902C>T	uc003yon.3	-	4	971	c.648G>A	c.(646-648)ACG>ACA	p.T216T	TNFRSF11B_uc010mdc.1_RNA	NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	216	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GCCAGTTAGGCGTAAACTTTG	0.428												
FAM91A1	157769	broad.mit.edu	37	8	124810453	124810453	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:124810453G>A	uc003yqv.2	+	16	1596	c.1535G>A	c.(1534-1536)CGG>CAG	p.R512Q	FAM91A1_uc011lik.1_Missense_Mutation_p.R512Q|FAM91A1_uc011lil.1_Missense_Mutation_p.R270Q	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	512										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)			AATGAAATCCGGCCTGTCAGC	0.473												
TG	7038	broad.mit.edu	37	8	133900416	133900416	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:133900416G>T	uc003ytw.2	+	10	2405	c.2364G>T	c.(2362-2364)TGG>TGT	p.W788C		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	788	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCAACGATGGGAGGCTCAGA	0.532												
COL22A1	169044	broad.mit.edu	37	8	139626111	139626111	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:139626111G>A	uc003yvd.2	-	56	4424	c.3977C>T	c.(3976-3978)CCG>CTG	p.P1326L	COL22A1_uc011ljo.1_Missense_Mutation_p.P606L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1326	Pro-rich.|Gly-rich.|Collagen-like 13.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AAAACTCACCGGTGGGCCCCT	0.403										HNSCC(7;0.00092)		
ARC	23237	broad.mit.edu	37	8	143694777	143694777	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:143694777G>A	uc003ywn.1	-	1	1057	c.856C>T	c.(856-858)CGC>TGC	p.R286C		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	286					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TCCAGCTCGCGCTGGATGGCC	0.642												
ZNF696	79943	broad.mit.edu	37	8	144378685	144378685	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:144378685C>T	uc003yxy.3	+	3	1249	c.840C>T	c.(838-840)CTC>CTT	p.L280L		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	280	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCTCCAACCTCCTCCAGCACC	0.721												
TOP1MT	116447	broad.mit.edu	37	8	144392346	144392346	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:144392346T>G	uc003yxz.2	-	13	1614	c.1595A>C	c.(1594-1596)GAG>GCG	p.E532A	TOP1MT_uc011lkd.1_Missense_Mutation_p.E434A|TOP1MT_uc011lke.1_Missense_Mutation_p.E434A|TOP1MT_uc010mfb.2_Missense_Mutation_p.E434A|TOP1MT_uc011lkf.1_Missense_Mutation_p.E327A	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	532					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CGCCAGCTGCTCCTGCAGCTT	0.647												
ZNF623	9831	broad.mit.edu	37	8	144732637	144732637	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:144732637C>T	uc003yzd.2	+	1	684	c.595C>T	c.(595-597)CGC>TGC	p.R199C	ZNF623_uc011lkp.1_Missense_Mutation_p.R159C|ZNF623_uc003yzc.2_Missense_Mutation_p.R159C	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	199	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGAGCATCAGCGCGTTCATTC	0.473												
NRBP2	340371	broad.mit.edu	37	8	144919335	144919335	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:144919335T>C	uc011lkt.1	-	14	1279	c.1139A>G	c.(1138-1140)TAC>TGC	p.Y380C	NRBP2_uc003yzv.2_Missense_Mutation_p.Y137C|NRBP2_uc003yzz.1_5'UTR|NRBP2_uc003yzw.2_Missense_Mutation_p.Y172C|NRBP2_uc010mfl.2_Missense_Mutation_p.Y172C|NRBP2_uc010mfm.2_Missense_Mutation_p.Y137C|NRBP2_uc011lks.1_Missense_Mutation_p.Y137C|NRBP2_uc003yzy.2_Missense_Mutation_p.Y137C	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	380					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)	2	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)			CATCAGTGGGTAGATTCCATT	0.632												
PLEC	5339	broad.mit.edu	37	8	144996253	144996253	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:144996253T>C	uc003zaf.1	-	32	8317	c.8147A>G	c.(8146-8148)CAG>CGG	p.Q2716R	PLEC_uc003zab.1_Missense_Mutation_p.Q2579R|PLEC_uc003zac.1_Missense_Mutation_p.Q2583R|PLEC_uc003zad.2_Missense_Mutation_p.Q2579R|PLEC_uc003zae.1_Missense_Mutation_p.Q2547R|PLEC_uc003zag.1_Missense_Mutation_p.Q2557R|PLEC_uc003zah.2_Missense_Mutation_p.Q2565R|PLEC_uc003zaj.2_Missense_Mutation_p.Q2606R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2716	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ctgccgccgctgctgctccag	0.537												
PLEC	5339	broad.mit.edu	37	8	144998339	144998339	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:144998339G>A	uc003zaf.1	-	31	6339	c.6169C>T	c.(6169-6171)CGG>TGG	p.R2057W	PLEC_uc003zab.1_Missense_Mutation_p.R1920W|PLEC_uc003zac.1_Missense_Mutation_p.R1924W|PLEC_uc003zad.2_Missense_Mutation_p.R1920W|PLEC_uc003zae.1_Missense_Mutation_p.R1888W|PLEC_uc003zag.1_Missense_Mutation_p.R1898W|PLEC_uc003zah.2_Missense_Mutation_p.R1906W|PLEC_uc003zaj.2_Missense_Mutation_p.R1947W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2057	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ACCTGCCGCCGCTGCCTCAGC	0.687												
SPATC1	375686	broad.mit.edu	37	8	145101632	145101632	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:145101632C>T	uc011lkw.1	+	5	1653	c.1551C>T	c.(1549-1551)AAC>AAT	p.N517N	SPATC1_uc011lkx.1_3'UTR	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	517										ovary(1)|central_nervous_system(1)	2	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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGGCTACAACGGGCGGGTGC	0.647												
LRRC14	9684	broad.mit.edu	37	8	145746112	145746112	+	Missense_Mutation	SNP	C	C	T	rs140061110		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:145746112C>T	uc003zdk.1	+	3	966	c.820C>T	c.(820-822)CGC>TGC	p.R274C	RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Missense_Mutation_p.R274C|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	274											0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGACAACTTCCGCTACTTCCT	0.632												
JAK2	3717	broad.mit.edu	37	9	5054662	5054662	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:5054662G>A	uc010mhm.2	+	6	827	c.714G>A	c.(712-714)CAG>CAA	p.Q238Q	JAK2_uc003ziw.2_Silent_p.Q238Q	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	238	Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GATTTATTCAGCAATTCAGCC	0.373		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial			
BNC2	54796	broad.mit.edu	37	9	16437180	16437180	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:16437180A>C	uc003zml.2	-	6	1152	c.1012T>G	c.(1012-1014)TTG>GTG	p.L338V	BNC2_uc011lmw.1_Missense_Mutation_p.L243V|BNC2_uc003zmm.2_Missense_Mutation_p.L296V|BNC2_uc003zmq.1_Missense_Mutation_p.L352V|BNC2_uc003zmr.1_Missense_Mutation_p.L375V|BNC2_uc003zmp.1_Missense_Mutation_p.L366V|BNC2_uc010mij.1_Missense_Mutation_p.L260V|BNC2_uc011lmv.1_Missense_Mutation_p.L164V|BNC2_uc003zmo.1_Missense_Mutation_p.L260V|BNC2_uc003zmj.2_Missense_Mutation_p.L103V|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.L103V|BNC2_uc003zmn.1_Missense_Mutation_p.L103V	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TTTGGAGGCAACCCTAGCAGT	0.483												
ADAMTSL1	92949	broad.mit.edu	37	9	18657700	18657700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:18657700C>T	uc003zne.3	+	8	1025	c.898C>T	c.(898-900)CGA>TGA	p.R300*	ADAMTSL1_uc003znb.2_Nonsense_Mutation_p.R300*|ADAMTSL1_uc003znc.3_Nonsense_Mutation_p.R300*	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	300						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		CATCATCCACCGATGGAGGGA	0.463												
TEK	7010	broad.mit.edu	37	9	27197501	27197501	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:27197501T>A	uc003zqi.3	+	12	2255	c.1813T>A	c.(1813-1815)TTA>ATA	p.L605I	TEK_uc011lno.1_Missense_Mutation_p.L562I|TEK_uc011lnp.1_Missense_Mutation_p.L458I|TEK_uc003zqj.1_Missense_Mutation_p.L539I	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	605	Extracellular (Potential).|Fibronectin type-III 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ACTTAACAACTTACATCCCAG	0.463												
LINGO2	158038	broad.mit.edu	37	9	27949356	27949356	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:27949356C>T	uc003zqu.1	-	2	1508	c.1314G>A	c.(1312-1314)CCG>CCA	p.P438P	LINGO2_uc010mjf.1_Silent_p.P438P|LINGO2_uc003zqv.1_Silent_p.P438P	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	438	Ig-like C2-type.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCACAGGCTGCGGGTCTCCAT	0.517												
NOL6	65083	broad.mit.edu	37	9	33467203	33467203	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:33467203C>T	uc003zsz.2	-	14	1884	c.1783G>A	c.(1783-1785)GGA>AGA	p.G595R	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.G595R|NOL6_uc010mjv.2_Missense_Mutation_p.G592R|NOL6_uc011lob.1_Missense_Mutation_p.G543R|NOL6_uc003ztb.1_Missense_Mutation_p.G595R	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	595					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CGAATGGCTCCGTCCTGGAAA	0.602											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UBAP2	55833	broad.mit.edu	37	9	33988989	33988989	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:33988989C>T	uc003ztq.1	-	5	537	c.424G>A	c.(424-426)GGC>AGC	p.G142S	UBAP2_uc011loc.1_Missense_Mutation_p.G104S|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Missense_Mutation_p.G67S|UBAP2_uc011log.1_Missense_Mutation_p.G141S|UBAP2_uc003ztr.2_Missense_Mutation_p.G67S	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	142										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCACGATTGCCGCCTCTTCCT	0.318												
TESK1	7016	broad.mit.edu	37	9	35609004	35609004	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:35609004A>G	uc003zxa.2	+	10	1482	c.1146A>G	c.(1144-1146)TCA>TCG	p.S382S	TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Silent_p.S222S	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	382					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACCCCTTCTCACTACGGGAAG	0.587												
TLN1	7094	broad.mit.edu	37	9	35714857	35714857	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:35714857G>A	uc003zxt.2	-	22	3125	c.2771C>T	c.(2770-2772)GCT>GTT	p.A924V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	924					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)			TGAGGCTGCAGCCTGCTTGGC	0.632												
CREB3	10488	broad.mit.edu	37	9	35736412	35736412	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:35736412C>A	uc003zxv.2	+	9	1258	c.805C>A	c.(805-807)CTC>ATC	p.L269I	CREB3_uc010mla.2_Missense_Mutation_p.L188I	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	293	Lumenal (Potential).				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity				0	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		GCTTCGTGCCCTCCCCAGTGA	0.577											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GBA2	57704	broad.mit.edu	37	9	35737837	35737837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:35737837G>A	uc003zxw.2	-	16	2937	c.2413C>T	c.(2413-2415)CAG>TAG	p.Q805*	GBA2_uc003zxx.1_Nonsense_Mutation_p.Q100*|GBA2_uc011lpb.1_Nonsense_Mutation_p.Q805*|GBA2_uc011lpc.1_Nonsense_Mutation_p.Q805*|GBA2_uc011lpd.1_Nonsense_Mutation_p.Q811*	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	bile acid beta-glucosidase	805	Cytoplasmic (Potential).				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			ovary(3)|skin(1)	4	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCATGGGGCTGCATCCCATTC	0.552												
PGM5	5239	broad.mit.edu	37	9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:70993121C>T	uc004agr.2	+	2	497	c.268C>T	c.(268-270)CGA>TGA	p.R90*		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					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						TTAGATTGGACGACTGATTAT	0.443												
APBA1	320	broad.mit.edu	37	9	72071229	72071229	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:72071229C>T	uc004ahh.2	-	8	1998	c.1722G>A	c.(1720-1722)GCG>GCA	p.A574A		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	574	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						ATGGGTGGGACGCTTCCACGT	0.547												
C9orf79	286234	broad.mit.edu	37	9	90501353	90501353	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:90501353G>A	uc004app.3	+	4	1986	c.1951G>A	c.(1951-1953)GGG>AGG	p.G651R	C9orf79_uc004apo.1_Missense_Mutation_p.G463R	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	651						integral to membrane				ovary(3)	3						GCAGGCATCTGGGGACCTGCT	0.622												
SHC3	53358	broad.mit.edu	37	9	91657077	91657077	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:91657077C>T	uc004aqg.2	-	10	1531	c.1224G>A	c.(1222-1224)ACG>ACA	p.T408T		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	408	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						TCCCTTCTGGCGTGCTGTAGA	0.572												
SPTLC1	10558	broad.mit.edu	37	9	94809485	94809485	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:94809485A>G	uc004arl.1	-	11	1088	c.1050T>C	c.(1048-1050)ATT>ATC	p.I350I	SPTLC1_uc011ltv.1_Silent_p.I350I	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	350	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGAGGGCCTCAATTGCTGCAG	0.423												
SPTLC1	10558	broad.mit.edu	37	9	94843197	94843197	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:94843197G>A	uc004arl.1	-	4	347	c.309C>T	c.(307-309)TTC>TTT	p.F103F	SPTLC1_uc011ltv.1_Silent_p.F103F|SPTLC1_uc004arm.1_Silent_p.F103F|SPTLC1_uc004arn.1_Silent_p.F103F	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	103	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TAAATGAGGCGAAGTTTATAC	0.378												
ECM2	1842	broad.mit.edu	37	9	95263142	95263142	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:95263142G>A	uc004ash.2	-	9	1863	c.1798C>T	c.(1798-1800)CGT>TGT	p.R600C	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.R578C|ECM2_uc011lty.1_Missense_Mutation_p.R600C|ECM2_uc004asg.2_Missense_Mutation_p.R578C|ECM2_uc010mqz.1_Missense_Mutation_p.R22C	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	600	LRR 10.				cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2						AAGGAGACACGGTCCATGCCA	0.433												
PTCH1	5727	broad.mit.edu	37	9	98241299	98241299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:98241299G>A	uc004avk.3	-	8	1386	c.1198C>T	c.(1198-1200)CAG>TAG	p.Q400*	PTCH1_uc010mro.2_Nonsense_Mutation_p.Q249*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.Q249*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.Q249*|PTCH1_uc004avl.3_Nonsense_Mutation_p.Q249*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.Q334*|PTCH1_uc004avm.3_Nonsense_Mutation_p.Q399*|PTCH1_uc010mrs.1_Nonsense_Mutation_p.Q120*	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	400	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TATGTCCTCTGCCAGGCCTCC	0.473									Basal_Cell_Nevus_syndrome			
GALNT12	79695	broad.mit.edu	37	9	101585627	101585627	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:101585627G>A	uc004ayz.2	+	2	461	c.461G>A	c.(460-462)CGG>CAG	p.R154Q		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	N-acetylgalactosaminyltransferase 12	154	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(62;0.0559)				ACTCTCCTTCGGACAGTTTAC	0.438												
RNF20	56254	broad.mit.edu	37	9	104302547	104302547	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:104302547G>A	uc004bbn.2	+	3	282	c.192G>A	c.(190-192)CAG>CAA	p.Q64Q		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	64	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGTTGGATCAGCGGCAGGCCA	0.453												
GRIN3A	116443	broad.mit.edu	37	9	104433084	104433084	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:104433084C>A	uc004bbp.1	-	3	2211	c.1610G>T	c.(1609-1611)TGC>TTC	p.C537F	GRIN3A_uc004bbq.1_Missense_Mutation_p.C537F	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	537	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCCAGCAGGGCACAAGCCTTC	0.468												
C9orf5	23731	broad.mit.edu	37	9	111826802	111826802	+	Silent	SNP	C	C	T	rs138324371	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:111826802C>T	uc004bdt.3	-	10	1610	c.1578G>A	c.(1576-1578)GCG>GCA	p.A526A	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Silent_p.A518A	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	526						integral to membrane				central_nervous_system(1)	1		Myeloproliferative disorder(63;0.204)		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)		CGTTGTTAGCCGCAGAATTCA	0.408												
EPB41L4B	54566	broad.mit.edu	37	9	111965955	111965955	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:111965955T>C	uc004bdz.1	-	19	2229	c.1934A>G	c.(1933-1935)GAC>GGC	p.D645G		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	645						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						TACACTAGCGTCCTGAAGACT	0.403												
PTPN3	5774	broad.mit.edu	37	9	112207523	112207523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:112207523G>A	uc004bed.2	-	7	575	c.463C>T	c.(463-465)CAA>TAA	p.Q155*	PTPN3_uc004beb.2_Nonsense_Mutation_p.Q24*|PTPN3_uc004bec.2_Nonsense_Mutation_p.Q24*|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Nonsense_Mutation_p.Q155*|PTPN3_uc011lwh.1_Nonsense_Mutation_p.Q46*	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	155	FERM.				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						GACTTACATTGTACGGCATAG	0.468												
SVEP1	79987	broad.mit.edu	37	9	113208197	113208197	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:113208197G>A	uc010mtz.2	-	26	4720	c.4383C>T	c.(4381-4383)GAC>GAT	p.D1461D	SVEP1_uc010mua.1_Silent_p.D1461D	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1461	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						AGTTCATGTCGTCAGAGGATT	0.453												
SVEP1	79987	broad.mit.edu	37	9	113312289	113312289	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:113312289C>T	uc010mtz.2	-	2	964	c.627G>A	c.(625-627)GCG>GCA	p.A209A	SVEP1_uc010mua.1_Silent_p.A209A|SVEP1_uc004beu.2_Silent_p.A209A|SVEP1_uc004bev.2_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	209	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CTCGCAGTGACGCTGCAATTG	0.453												
MUSK	4593	broad.mit.edu	37	9	113562661	113562661	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:113562661G>A	uc004bey.2	+	14	2101	c.2003G>A	c.(2002-2004)CGC>CAC	p.R668H	MUSK_uc004bez.1_Missense_Mutation_p.R248H	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	668	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						GAGTTCCTCCGCAGCATGTCC	0.572												
FKBP15	23307	broad.mit.edu	37	9	115932872	115932872	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:115932872C>T	uc004bgs.2	-	25	2814	c.2696G>A	c.(2695-2697)CGG>CAG	p.R899Q	FKBP15_uc004bgr.2_Missense_Mutation_p.R336Q|FKBP15_uc011lxc.1_Missense_Mutation_p.R480Q|FKBP15_uc011lxd.1_Missense_Mutation_p.R831Q	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	899					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						AAACTCTCTCCGTAAGGACTG	0.433												
ZNF618	114991	broad.mit.edu	37	9	116810996	116810996	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:116810996C>T	uc004bid.2	+	15	1513	c.1414C>T	c.(1414-1416)CGG>TGG	p.R472W	ZNF618_uc004bic.2_Missense_Mutation_p.R379W|ZNF618_uc011lxi.1_Missense_Mutation_p.R439W|ZNF618_uc011lxj.1_Missense_Mutation_p.R440W|ZNF618_uc010mvb.2_Missense_Mutation_p.R62W	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATCGCAGAGCGGCTGTTGAG	0.562												
COL27A1	85301	broad.mit.edu	37	9	116930723	116930723	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:116930723G>A	uc011lxl.1	+	3	888	c.888G>A	c.(886-888)ACG>ACA	p.T296T	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Silent_p.T146T	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	296	Pro-rich.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CACCCGCCACGCCCACCAAGC	0.667												
COL27A1	85301	broad.mit.edu	37	9	117031572	117031572	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:117031572C>T	uc011lxl.1	+	35	3553	c.3553C>T	c.(3553-3555)CGG>TGG	p.R1185W	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1185	Pro-rich.|Collagen-like 9.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CATTGGGCAACGGGTAAGTTG	0.527												
DFNB31	25861	broad.mit.edu	37	9	117266581	117266581	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:117266581G>A	uc004biz.3	-	1	1150	c.501C>T	c.(499-501)TAC>TAT	p.Y167Y	DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Silent_p.Y167Y|DFNB31_uc004bjb.2_Silent_p.Y167Y	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	167	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CCAGAGACACGTAGATGCCCA	0.662												
DAB2IP	153090	broad.mit.edu	37	9	124441045	124441045	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:124441045G>A	uc004bln.2	+	2	198	c.129G>A	c.(127-129)ACG>ACA	p.T43T		NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	71					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						CGGCCGCCACGCCGTTCCGGG	0.567												
RABGAP1	23637	broad.mit.edu	37	9	125827654	125827654	+	Missense_Mutation	SNP	C	C	T	rs144231846		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:125827654C>T	uc011lzh.1	+	14	1956	c.1822C>T	c.(1822-1824)CGG>TGG	p.R608W	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc011lzj.1_5'UTR	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	608	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						TGCTATCACCCGGGATATTAA	0.413												
GARNL3	84253	broad.mit.edu	37	9	130027239	130027239	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:130027239C>T	uc011mae.1	+	1	484	c.83C>T	c.(82-84)TCG>TTG	p.S28L	GARNL3_uc011mad.1_Missense_Mutation_p.S6L	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	28					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AGCTCTGTCTCGGAAGACCTA	0.423												
ZNF79	7633	broad.mit.edu	37	9	130207216	130207216	+	Missense_Mutation	SNP	G	G	A	rs148709335		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:130207216G>A	uc004bqw.3	+	5	1651	c.1237G>A	c.(1237-1239)GGG>AGG	p.G413R	ZNF79_uc011maf.1_Missense_Mutation_p.G389R|ZNF79_uc011mag.1_Missense_Mutation_p.G389R	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						GACCCACACCGGGGAGAAGCC	0.478												
LRRC8A	56262	broad.mit.edu	37	9	131670817	131670817	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:131670817C>T	uc004bwl.3	+	3	1628	c.1374C>T	c.(1372-1374)GAC>GAT	p.D458D	LRRC8A_uc010myp.2_Silent_p.D458D|LRRC8A_uc010myq.2_Silent_p.D458D	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	458	LRR 4.				pre-B cell differentiation	integral to membrane					0						TGATCCCCGACGTGACCATCC	0.622												
SH3GLB2	56904	broad.mit.edu	37	9	131771452	131771452	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:131771452C>T	uc004bwv.2	-	10	1159	c.1013G>A	c.(1012-1014)CGC>CAC	p.R338H	SH3GLB2_uc004bww.2_Missense_Mutation_p.R347H|SH3GLB2_uc004bwx.1_Missense_Mutation_p.R338H|SH3GLB2_uc011mbm.1_Missense_Mutation_p.R347H	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	338	SH3.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding				0						CCGAGCTTTGCGGGTCCCACT	0.697												
ABL1	25	broad.mit.edu	37	9	133759855	133759855	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:133759855C>T	uc004bzw.2	+	11	2181	c.2178C>T	c.(2176-2178)GCC>GCT	p.A726A	ABL1_uc004bzv.2_Silent_p.A745A	NM_005157	NP_005148	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	726					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)	CCCATGGGGCCAAGGACACGG	0.637			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL							
FIBCD1	84929	broad.mit.edu	37	9	133805164	133805164	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:133805164C>T	uc004bzz.2	-	2	587	c.342G>A	c.(340-342)TCG>TCA	p.S114S	FIBCD1_uc011mcc.1_Silent_p.S114S|FIBCD1_uc011mcd.1_Silent_p.S122S	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	114	Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCTGCAGCACCGAGGCCTGGG	0.706												
FIBCD1	84929	broad.mit.edu	37	9	133805407	133805407	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:133805407G>A	uc004bzz.2	-	2	344	c.99C>T	c.(97-99)TGC>TGT	p.C33C	FIBCD1_uc011mcc.1_Silent_p.C33C|FIBCD1_uc011mcd.1_Silent_p.C41C	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	33	Cytoplasmic (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCAGCACGGTGCACAGCACGT	0.692												
C9orf171	389799	broad.mit.edu	37	9	135374827	135374827	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:135374827G>A	uc004cbn.2	+	4	520	c.472G>A	c.(472-474)GCA>ACA	p.A158T	C9orf171_uc004cbo.2_Missense_Mutation_p.A122T	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	158										ovary(4)|large_intestine(1)	5						GAATTATATCGCAATGAACCG	0.627												
DDX31	64794	broad.mit.edu	37	9	135505770	135505770	+	Silent	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:135505770A>G	uc004cbq.1	-	16	1979	c.1827T>C	c.(1825-1827)CCT>CCC	p.P609P	DDX31_uc010mzu.1_Intron	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	609	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TGTATTCTGCAGGTGAAGATG	0.488												
GFI1B	8328	broad.mit.edu	37	9	135862799	135862799	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:135862799G>A	uc004ccg.2	+	3	382	c.231G>A	c.(229-231)CCG>CCA	p.P77P	GFI1B_uc010mzy.2_Silent_p.P77P	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	77					cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GGATGGCCCCGGCACCAGGTA	0.622												
RALGDS	5900	broad.mit.edu	37	9	135974124	135974124	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:135974124G>A	uc004cco.2	-	18	2615	c.2595C>T	c.(2593-2595)AAC>AAT	p.N865N	RALGDS_uc004cct.1_RNA|RALGDS_uc004ccn.2_Silent_p.N53N|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Silent_p.N853N|RALGDS_uc004ccr.2_Silent_p.N864N|RALGDS_uc011mcv.1_Silent_p.N836N|RALGDS_uc004ccs.2_Silent_p.N810N|RALGDS_uc011mcw.1_Silent_p.N936N	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	865	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CATAGAAGACGTTGGCGTTTT	0.587			T	CIITA	PMBL|Hodgkin Lymphona|							
ADAMTS13	11093	broad.mit.edu	37	9	136323181	136323181	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:136323181G>A	uc004cdv.3	+	28	4486	c.4042G>A	c.(4042-4044)GCT>ACT	p.A1348T	ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.A1292T|ADAMTS13_uc004cdu.1_Missense_Mutation_p.A1261T|ADAMTS13_uc004cdw.3_Missense_Mutation_p.A1292T|ADAMTS13_uc004cdx.3_Missense_Mutation_p.A1261T|ADAMTS13_uc004cdz.3_Missense_Mutation_p.A1018T|ADAMTS13_uc004cea.1_3'UTR|ADAMTS13_uc004ceb.3_Missense_Mutation_p.A144T|C9orf7_uc011mdg.1_5'Flank|C9orf7_uc004cec.2_5'Flank|C9orf7_uc011mdh.1_5'Flank|C9orf7_uc011mdi.1_5'Flank|C9orf7_uc010nan.2_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1348	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAACATGGGCGCTGGGACCGA	0.612												
BRD3	8019	broad.mit.edu	37	9	136913403	136913403	+	Silent	SNP	G	G	A	rs141698176	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:136913403G>A	uc004cew.2	-	6	1076	c.888C>T	c.(886-888)GGC>GGT	p.G296G	BRD3_uc004cex.2_Silent_p.G296G	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	296						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGGCACCTCGCCGTCCTCCA	0.662			T	NUT|C15orf55	lethal midline carcinoma of young people							
SNAPC4	6621	broad.mit.edu	37	9	139273538	139273538	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:139273538G>A	uc004chh.2	-	21	2750	c.2741C>T	c.(2740-2742)CCG>CTG	p.P914L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	914					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GAGCACCACCGGGCCCCGGGT	0.711												
SNAPC4	6621	broad.mit.edu	37	9	139276754	139276754	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:139276754G>A	uc004chh.2	-	16	2027	c.2018C>T	c.(2017-2019)ACC>ATC	p.T673I		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	673					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCTCAGCACGGTCTCCACAGG	0.692												
PMPCA	23203	broad.mit.edu	37	9	139310805	139310805	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:139310805C>T	uc004chl.2	+	6	600	c.595C>T	c.(595-597)CCT>TCT	p.P199S	PMPCA_uc011mdy.1_Missense_Mutation_p.P199S|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_Missense_Mutation_p.P99S|PMPCA_uc011mdz.1_Missense_Mutation_p.P68S|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	199					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GAACCTGCGGCCTGACCCAGA	0.562												
C9orf172	389813	broad.mit.edu	37	9	139739521	139739521	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:139739521G>A	uc011meh.1	+	1	655	c.655G>A	c.(655-657)GCC>ACC	p.A219T	PHPT1_uc004cjp.2_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	219	Pro-rich.										0						GGCCCGCCCCGCCCCGCAGTT	0.756												
MAMDC4	158056	broad.mit.edu	37	9	139749937	139749937	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:139749937C>A	uc004cjs.2	+	12	1387	c.1337C>A	c.(1336-1338)CCC>CAC	p.P446H	MAMDC4_uc011mej.1_Intron	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	446	Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCCCCCCAGCCCCTGCCGCCC	0.697												
RNF208	727800	broad.mit.edu	37	9	140115251	140115251	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:140115251G>A	uc004clz.1	-	1	525	c.414C>T	c.(412-414)GGC>GGT	p.G138G		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	ring finger protein 208	138							zinc ion binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCAGGGGCTCGCCTGCCGCCG	0.672												
SLC34A3	142680	broad.mit.edu	37	9	140128330	140128330	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:140128330A>G	uc004cmf.1	+	9	1048	c.862A>G	c.(862-864)AGC>GGC	p.S288G	SLC34A3_uc004cmc.1_Missense_Mutation_p.S145G|SLC34A3_uc004cmd.1_Missense_Mutation_p.S288G|SLC34A3_uc011met.1_Missense_Mutation_p.S288G	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	288	Extracellular (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGAGAACAGCAGCTGTGGCGC	0.697												
SLC34A3	142680	broad.mit.edu	37	9	140129157	140129157	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:140129157G>A	uc004cmf.1	+	12	1495	c.1309G>A	c.(1309-1311)GCA>ACA	p.A437T	SLC34A3_uc011met.1_Missense_Mutation_p.A437T	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	solute carrier family 34 (sodium phosphate),	437	Extracellular (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGCCAGCCCCGCAGACAGGAT	0.662												
EXD3	54932	broad.mit.edu	37	9	140243850	140243850	+	Missense_Mutation	SNP	G	G	A	rs138566172	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:140243850G>A	uc004cmp.2	-	15	1824	c.1628C>T	c.(1627-1629)CCG>CTG	p.P543L	C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Missense_Mutation_p.P223L|EXD3_uc004cmq.1_RNA	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	543	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0						CTCGCAGAGCGGCCTCCGGTC	0.706												
PNPLA7	375775	broad.mit.edu	37	9	140358900	140358900	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:140358900C>T	uc004cnf.2	-	26	3310	c.2973G>A	c.(2971-2973)ACG>ACA	p.T991T	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Silent_p.T257T|PNPLA7_uc004cne.1_Silent_p.T257T|PNPLA7_uc011mfa.1_Silent_p.T399T|PNPLA7_uc010ncj.1_Silent_p.T1016T	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	991	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCATCAAGGACGTCATGCCCT	0.602												
PPP2R3B	28227	broad.mit.edu	37	X	295108	295108	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:295108C>T	uc004cpg.2	-	13	1923	c.1722G>A	c.(1720-1722)CCG>CCA	p.P574P	PPP2R3B_uc004cpf.2_Silent_p.P175P	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	574					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGTCACAGCGGCTCCAGGT	0.706												
ASMTL	8623	broad.mit.edu	37	X	1531640	1531640	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:1531640C>T	uc004cpx.1	-	12	1741	c.1630G>A	c.(1630-1632)GAG>AAG	p.E544K	NCRNA00105_uc004cpv.2_RNA|NCRNA00105_uc004cpw.2_RNA|ASMTL_uc011mhe.1_Missense_Mutation_p.E468K|ASMTL_uc004cpy.1_Missense_Mutation_p.E528K|ASMTL_uc011mhf.1_Missense_Mutation_p.E486K	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	544	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase 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)				TTGCAGCTCTCGGCGACCCTG	0.493												
XG	7499	broad.mit.edu	37	X	2712609	2712609	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:2712609G>A	uc011mhg.1	+	6	510	c.287G>A	c.(286-288)CGC>CAC	p.R96H	XG_uc004cqp.2_Missense_Mutation_p.R96H	NM_175569	NP_780778	P55808	XG_HUMAN	XG glycoprotein isoform 1 precursor	96	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)	1		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GATGACGGACGCTACCCGCCC	0.617												
PRKX	5613	broad.mit.edu	37	X	3592695	3592695	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:3592695G>A	uc010nde.2	-	2	646	c.279C>T	c.(277-279)CAC>CAT	p.H93H		NM_005044	NP_005035	P51817	PRKX_HUMAN	protein kinase, X-linked	93	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			skin(2)|lung(1)	3		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CATTGTGTACGTGTTGCTCCT	0.572												
TBL1X	6907	broad.mit.edu	37	X	9656197	9656197	+	Silent	SNP	T	T	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:9656197T>G	uc010ndq.2	+	7	866	c.498T>G	c.(496-498)GCT>GCG	p.A166A	TBL1X_uc004csq.3_Silent_p.A115A|TBL1X_uc010ndr.2_Silent_p.A115A|TBL1X_uc004csr.2_Silent_p.A166A|TBL1X_uc004css.2_Silent_p.A117A	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	166	Poly-Ala.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				cggcggcggctgcggccacgg	0.468												
ARHGAP6	395	broad.mit.edu	37	X	11157458	11157458	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:11157458C>T	uc004cup.1	-	13	3323	c.2450G>A	c.(2449-2451)CGC>CAC	p.R817H	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Missense_Mutation_p.R614H|ARHGAP6_uc004cun.1_Missense_Mutation_p.R637H	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	817					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						GCTGCAGGCGCGCGACACCGC	0.746												
ARHGAP6	395	broad.mit.edu	37	X	11206974	11206974	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:11206974T>C	uc004cup.1	-	4	1824	c.951A>G	c.(949-951)CCA>CCG	p.P317P	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.P317P|ARHGAP6_uc004cum.1_Silent_p.P114P|ARHGAP6_uc004cun.1_Silent_p.P137P|ARHGAP6_uc010neb.1_Silent_p.P139P|ARHGAP6_uc011mif.1_Silent_p.P114P	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	317					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						TATTTCCAAATGGGAGGAGGG	0.473												
ARHGAP6	395	broad.mit.edu	37	X	11272825	11272825	+	Silent	SNP	A	A	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:11272825A>C	uc004cup.1	-	2	1464	c.591T>G	c.(589-591)GGT>GGG	p.G197G	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.G197G|ARHGAP6_uc004cum.1_5'UTR|ARHGAP6_uc004cun.1_Silent_p.G17G|ARHGAP6_uc010neb.1_Silent_p.G19G|ARHGAP6_uc011mif.1_5'UTR	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	197					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						AGGTGAAATCACCCTGTAGGC	0.463												
BMX	660	broad.mit.edu	37	X	15526524	15526524	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:15526524G>A	uc004cww.2	+	2	236	c.48G>A	c.(46-48)CAG>CAA	p.Q16Q	BMX_uc004cwx.3_Silent_p.Q16Q|BMX_uc004cwy.3_Silent_p.Q16Q	NM_203281	NP_975010	P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	16	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			lung(3)|ovary(2)	5	Hepatocellular(33;0.183)					AAAGATCACAGCAAAAGAAGA	0.299												
DCAF8L1	139425	broad.mit.edu	37	X	27998685	27998685	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:27998685A>G	uc004dbx.1	-	1	882	c.767T>C	c.(766-768)CTG>CCG	p.L256P		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	256	WD 2.									ovary(3)|skin(1)	4						ACACATGGCCAGAGTGGAATC	0.498												
MED14	9282	broad.mit.edu	37	X	40562801	40562801	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:40562801G>T	uc004dex.3	-	11	1446	c.1306C>A	c.(1306-1308)CCA>ACA	p.P436T		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	436	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						ACAAGAGCTGGGAGTGCAGTC	0.343												
DDX3X	1654	broad.mit.edu	37	X	41203552	41203552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:41203552C>T	uc004dfe.2	+	10	1780	c.925C>T	c.(925-927)CAG>TAG	p.Q309*	DDX3X_uc010nhf.1_Nonsense_Mutation_p.Q293*|DDX3X_uc004dff.2_Nonsense_Mutation_p.Q309*|DDX3X_uc011mkq.1_Nonsense_Mutation_p.Q293*|DDX3X_uc011mkr.1_Nonsense_Mutation_p.Q309*|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	309	Necessary for interaction with XPO1.|Helicase ATP-binding.				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						TATTGGTCAGCAGATTCGAGA	0.408										HNSCC(61;0.18)		
PHF16	9767	broad.mit.edu	37	X	46913962	46913962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:46913962C>T	uc004dgx.2	+	9	1426	c.1375C>T	c.(1375-1377)CAG>TAG	p.Q459*	PHF16_uc004dgy.2_Nonsense_Mutation_p.Q459*	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN	PHD finger protein 16	459					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0						TGGGCTGGTGCAGCCAAAAGA	0.438												
ERAS	3266	broad.mit.edu	37	X	48687743	48687743	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:48687743C>T	uc004dky.1	+	1	461	c.210C>T	c.(208-210)CAC>CAT	p.H70H		NM_181532	NP_853510	Q7Z444	RASE_HUMAN	ES cell expressed Ras precursor	70	Effector region (By similarity).				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			lung(4)|urinary_tract(1)	5						TGGAGGACCACGACCCCACCA	0.612												
SSX7	280658	broad.mit.edu	37	X	52681369	52681369	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:52681369C>T	uc004dqx.1	-	4	372	c.213G>A	c.(211-213)ATG>ATA	p.M71I		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	71	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			skin(1)	1	Ovarian(276;0.236)					CTGTATTATGCATGAAAGGTG	0.428												
SMC1A	8243	broad.mit.edu	37	X	53432885	53432885	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:53432885C>T	uc004dsg.2	-	10	1618	c.1549G>A	c.(1549-1551)GGC>AGC	p.G517S	SMC1A_uc011moe.1_Missense_Mutation_p.G495S|SMC1A_uc011mof.1_Missense_Mutation_p.G283S	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	517	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						ATGAGGCGGCCGTACTGAGTA	0.463												
MAGED2	10916	broad.mit.edu	37	X	54837468	54837468	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:54837468G>A	uc004dtk.1	+	4	846	c.752G>A	c.(751-753)CGT>CAT	p.R251H	MAGED2_uc004dtl.1_Missense_Mutation_p.R251H|MAGED2_uc004dtm.1_Intron|MAGED2_uc010nkc.1_Missense_Mutation_p.R251H|MAGED2_uc004dtn.1_Missense_Mutation_p.R251H|MAGED2_uc004dto.1_Missense_Mutation_p.R225H	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	251	Arg-rich.									ovary(2)|breast(1)	3						CCTAAAGCCCGTAGGGGCAAG	0.612												
PFKFB1	5207	broad.mit.edu	37	X	54989723	54989723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:54989723G>A	uc004dty.1	-	2	261	c.190C>T	c.(190-192)CGA>TGA	p.R64*	PFKFB1_uc010nkd.1_Nonsense_Mutation_p.R72*|PFKFB1_uc011mol.1_Intron	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	64	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1						TTGAGATATCGTGTGAGCTTT	0.438												
NLGN3	54413	broad.mit.edu	37	X	70387060	70387060	+	Silent	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:70387060C>T	uc004dzd.1	+	6	1313	c.1113C>T	c.(1111-1113)CAC>CAT	p.H371H	NLGN3_uc010nlb.1_Silent_p.H331H|NLGN3_uc004dzb.2_Silent_p.H351H|NLGN3_uc004dzc.2_Silent_p.H234H|NLGN3_uc011mps.1_Silent_p.H331H|NLGN3_uc004dze.2_Silent_p.H169H	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	371	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					CCCGCTACCACGTGGCCTTTG	0.547												
TAF1	6872	broad.mit.edu	37	X	70643838	70643838	+	Silent	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:70643838T>C	uc004dzu.3	+	31	4638	c.4587T>C	c.(4585-4587)CAT>CAC	p.H1529H	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.H1550H|TAF1_uc004dzv.3_Silent_p.H703H|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Intron|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1529	Interaction with ASF1A and ASF1B.|Bromo 2.|Protein kinase 2.				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)				GGCCATTTCATCACCCAGTTA	0.333												
BTK	695	broad.mit.edu	37	X	100625041	100625041	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:100625041G>A	uc004ehg.2	-	5	529	c.336C>T	c.(334-336)TAC>TAT	p.Y112Y	BTK_uc010nnn.2_Silent_p.Y112Y|BTK_uc010nno.2_Silent_p.Y146Y|BTK_uc004ehi.2_Silent_p.Y112Y	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	112	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			lung(3)|central_nervous_system(2)|ovary(1)	6						GGGAGAAGACGTAGAGAGGCC	0.398									Agammaglobulinemia_X-linked			
ARMCX1	51309	broad.mit.edu	37	X	100808255	100808255	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:100808255G>A	uc004ehv.2	+	4	713	c.342G>A	c.(340-342)ACG>ACA	p.T114T	ARMCX1_uc004ehw.2_Silent_p.T114T	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	114						integral to membrane	binding			ovary(3)|pancreas(1)	4						TTTTCAACACGCTGAAGGAAC	0.582												
RAB40AL	282808	broad.mit.edu	37	X	102192886	102192886	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:102192886C>T	uc004ejs.2	+	1	687	c.640C>T	c.(640-642)CTC>TTC	p.L214F		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	214	SOCS box.				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			ovary(2)	2						CAAGCTCCCGCTCCCCATTGC	0.597												
NXF3	56000	broad.mit.edu	37	X	102337211	102337211	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:102337211T>C	uc004eju.2	-	9	933	c.862A>G	c.(862-864)ACC>GCC	p.T288A	NXF3_uc010noi.1_Missense_Mutation_p.T138A|NXF3_uc011mrw.1_Missense_Mutation_p.T288A|NXF3_uc011mrx.1_Missense_Mutation_p.T199A	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	288						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3						TCCGAGAAGGTCGTGCACACT	0.537												
RAB9B	51209	broad.mit.edu	37	X	103080412	103080412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:103080412C>T	uc004ell.1	-	3	588	c.303G>A	c.(301-303)TGG>TGA	p.W101*	RAB9B_uc004eli.1_Intron	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	101					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(3)	3						ATTCTTTCTGCCAGTTACCAA	0.478												
TEX13B	56156	broad.mit.edu	37	X	107224599	107224599	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:107224599A>G	uc004enn.1	-	3	743	c.650T>C	c.(649-651)CTG>CCG	p.L217P		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	217										ovary(1)	1						GCCTCCTCCCAGCCCCTGCAA	0.597												
CAPN6	827	broad.mit.edu	37	X	110492163	110492163	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:110492163C>A	uc004epc.1	-	9	1449	c.1281G>T	c.(1279-1281)AAG>AAT	p.K427N	CAPN6_uc011msu.1_Missense_Mutation_p.K172N	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	427	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						CCATTTTTACCTTGAAGAGCT	0.438												
LONRF3	79836	broad.mit.edu	37	X	118145831	118145831	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:118145831C>A	uc004eqw.2	+	8	1737	c.1706C>A	c.(1705-1707)CCT>CAT	p.P569H	LONRF3_uc004eqx.2_Missense_Mutation_p.P528H|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.P313H	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger	569	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2						CCCACCGTTCCTTGTCCCCTG	0.473												
SLC25A5	292	broad.mit.edu	37	X	118604437	118604437	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:118604437G>A	uc004erh.3	+	3	816	c.700G>A	c.(700-702)GTT>ATT	p.V234I	LOC100303728_uc004ere.1_5'Flank|LOC100303728_uc004erg.1_5'Flank	NM_001152	NP_001143	P05141	ADT2_HUMAN	adenine nucleotide translocator 2	234	Helical; Name=5; (By similarity).|Solcar 3.				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			ovary(1)	1					Clodronate(DB00720)	ATTTGACACTGTTCGCCGCCG	0.507												
SEPT6	23157	broad.mit.edu	37	X	118767441	118767441	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:118767441T>C	uc004erv.2	-	8	1236	c.971A>G	c.(970-972)TAT>TGT	p.Y324C	SEPT6_uc010nqk.2_Intron|SEPT6_uc004ers.2_Missense_Mutation_p.Y324C|SEPT6_uc004ert.2_Missense_Mutation_p.Y324C|SEPT6_uc004eru.2_Missense_Mutation_p.Y324C|SEPT6_uc004erw.2_Missense_Mutation_p.Y266C|SEPT6_uc011mtv.1_Missense_Mutation_p.Y266C|SEPT6_uc011mtw.1_Missense_Mutation_p.Y354C	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	324	Potential.				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			lung(1)|ovary(1)|prostate(1)|kidney(1)	4						TTTGGCCTCATATGTCTCCTG	0.453												
BCORL1	63035	broad.mit.edu	37	X	129147951	129147951	+	Silent	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:129147951G>A	uc004evb.1	+	4	1317	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T	BCORL1_uc010nrd.1_Silent_p.T303T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	401	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						ctgctgccacgccagctgcca	0.154												
IGSF1	3547	broad.mit.edu	37	X	130419879	130419879	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:130419879G>A	uc004ewd.2	-	4	479	c.241C>T	c.(241-243)CGC>TGC	p.R81C	IGSF1_uc004ewe.3_Missense_Mutation_p.R70C|IGSF1_uc004ewf.2_Missense_Mutation_p.R61C|IGSF1_uc004ewg.2_Missense_Mutation_p.R81C	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	81	Ig-like C2-type 1.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TGGGAAGGGCGGATCCAGGTC	0.537												
IDS	3423	broad.mit.edu	37	X	148579643	148579643	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:148579643G>T	uc011mxe.1	-	5	901	c.703C>A	c.(703-705)CCC>ACC	p.P235T	IDS_uc011mxf.1_Missense_Mutation_p.P145T|IDS_uc011mxg.1_Missense_Mutation_p.P24T|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Missense_Mutation_p.P24T|IDS_uc011mxh.1_Missense_Mutation_p.P235T|IDS_uc011mxi.1_RNA	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	235						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTCACCTTGGGGTATCTGAAG	0.517												
MAMLD1	10046	broad.mit.edu	37	X	149638531	149638531	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:149638531A>G	uc004fee.1	+	3	762	c.686A>G	c.(685-687)CAC>CGC	p.H229R	MAMLD1_uc011mxt.1_Missense_Mutation_p.H191R|MAMLD1_uc011mxu.1_Missense_Mutation_p.H204R|MAMLD1_uc011mxv.1_Missense_Mutation_p.H204R|MAMLD1_uc011mxw.1_Missense_Mutation_p.H156R	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	229					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATGTCACACTTGGAGAGC	0.517												
PNMA5	114824	broad.mit.edu	37	X	152159299	152159299	+	Missense_Mutation	SNP	G	G	A	rs145041482	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:152159299G>A	uc010ntw.2	-	3	1183	c.844C>T	c.(844-846)CGC>TGC	p.R282C	PNMA5_uc004fha.3_Missense_Mutation_p.R282C|PNMA5_uc010ntx.2_Missense_Mutation_p.R282C|PNMA5_uc004fgy.3_Missense_Mutation_p.R282C	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN	paraneoplastic antigen like 5	282					apoptosis					ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTGCTGCGCACTGACAAG	0.582												
TMEM187	8269	broad.mit.edu	37	X	153247941	153247941	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:153247941T>C	uc004fjq.2	+	2	962	c.428T>C	c.(427-429)CTC>CCC	p.L143P	hsa-mir-3202-2|MI0014253_5'Flank	NM_003492	NP_003483	Q14656	TM187_HUMAN	transmembrane protein 187	143	Helical; (Potential).					integral to membrane|transport vesicle					0	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCTGTTCCTCTCTCTTGAG	0.672												
TKTL1	8277	broad.mit.edu	37	X	153539340	153539340	+	Silent	SNP	C	C	T	rs74546727	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:153539340C>T	uc004fkg.2	+	4	690	c.504C>T	c.(502-504)CAC>CAT	p.H168H	TKTL1_uc011mzl.1_Silent_p.H162H|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Silent_p.H112H	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	168					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					CCGCCGAGCACTGCATAAACA	0.512												
DNASE1L1	1774	broad.mit.edu	37	X	153633399	153633399	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:153633399A>G	uc004fks.1	-	3	352	c.161T>C	c.(160-162)GTG>GCG	p.V54A	DNASE1L1_uc004fkt.1_Missense_Mutation_p.V54A|DNASE1L1_uc004fku.1_Missense_Mutation_p.V54A|DNASE1L1_uc004fkv.1_Missense_Mutation_p.V54A|DNASE1L1_uc004fkw.1_Missense_Mutation_p.V54A	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor	54					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				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)					CTCCTGCAGCACCATGATGTC	0.607												
PLXNA3	55558	broad.mit.edu	37	X	153693430	153693430	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:153693430C>T	uc004flm.2	+	11	2286	c.2113C>T	c.(2113-2115)CGG>TGG	p.R705W		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	705	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTTACCTTGCGGGCTAAGAA	0.647												
UBE2Q2	92912	broad.mit.edu	37	15	76170361	76170364	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:76170361_76170364delAAGT	uc002bbg.2	+	7	1120	c.734_splice	c.e7+1	p.K245_splice	UBE2Q2_uc002bbh.2_Splice_Site_p.K210_splice|UBE2Q2_uc010umn.1_Splice_Site_p.K229_splice|UBE2Q2_uc002bbi.2_Splice_Site_p.K126_splice	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q 2 isoform 1						protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			ovary(2)	2						TAAACTGCAGAAGTAAGTGGCTTT	0.358												
PDIA2	64714	broad.mit.edu	37	16	332296	332296	+	Splice_Site	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:332296delG	uc002cgn.1	+	4	413	c.-695_splice	c.e4-1		ARHGDIG_uc002cgm.1_Splice_Site_p.G113_splice|PDIA2_uc010bqt.1_5'Flank|PDIA2_uc002cgo.1_5'Flank	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor						apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TTCCCCAATAGGGGACCTGGC	0.577												
ABCA6	23460	broad.mit.edu	37	17	67081325	67081326	+	Splice_Site	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:67081325_67081326insA	uc002jhw.1	-	32	4205	c.4030_splice	c.e32-1	p.V1344_splice		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6						transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					CAGTTCCACCTAAAAAAATAAA	0.446												
STRN	6801	broad.mit.edu	37	2	37096869	37096872	+	Splice_Site	DEL	CTAT	CTAT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:37096868_37096871GCTAT>G	uc002rpn.3	-	11	1333	c.1324_splice	c.e11-1	p.I442_splice	STRN_uc010ezx.3_Splice_Site_p.I405_splice	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	442					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTTATTGTTTGCTATCTATTAAAG	0.368												
PSME4	23198	broad.mit.edu	37	2	54167140	54167141	+	Splice_Site	INS	-	-	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:54167139_54167140T>TG	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	p.?(1)		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)			TCTACAGAACTGGGGGGGGAAA	0.347												
SLCO6A1	133482	broad.mit.edu	37	5	101755728	101755728	+	Splice_Site	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:101755727_101755727TA>T	uc003knn.3	-	8	1449	c.1277_splice	c.e8-1	p.G426_splice	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Splice_Site_p.G426_splice|SLCO6A1_uc003knq.3_Splice_Site_p.G364_splice	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	426						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAACAAGTCCTAAAAAAAAGG	0.343												
SEC24C	9632	broad.mit.edu	37	10	75525560	75525560	+	Splice_Site	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:75525559_75525559TC>T	uc001juw.3	+	11	1547	c.1367_splice	c.e11-1	p.V456_splice	SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_Splice_Site_p.V314_splice|SEC24C_uc001jux.3_Splice_Site_p.V456_splice|SEC24C_uc010qko.2_Splice_Site_p.V337_splice|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGT	0.512												
ATP6V0A1	535	broad.mit.edu	37	17	40642658	40642658	+	Splice_Site	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:40642657_40642657TA>T	uc002hzs.3	+	11	1362	c.1195_splice	c.e11+2	p.A399_splice	ATP6V0A1_uc002hzr.3_Splice_Site_p.A392_splice|ATP6V0A1_uc002hzq.3_Splice_Site_p.A392_splice|ATP6V0A1_uc010wgj.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010wgk.2_Splice_Site_p.A349_splice|ATP6V0A1_uc010cyg.3_Splice_Site_p.A38_splice|ATP6V0A1_uc010wgl.2_Splice_Site_p.A251_splice	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	392					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TAAATCCAGGTAAAAAAAAGC	0.388												
PSTPIP2	9050	broad.mit.edu	37	18	43595906	43595906	+	Splice_Site	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:43595905_43595905TA>T	uc002lbp.4	-	4	309	c.213_splice	c.e4-1	p.N71_splice	PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	71	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTCAGGGTGCTAAAAAAAACA	0.383												
MEIS3	56917	broad.mit.edu	37	19	47918126	47918127	+	Splice_Site	INS	-	-	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:47918125_47918126T>TG	uc002pgq.3	-	6	757	c.691_splice	c.e6-1	p.V231_splice	MEIS3_uc002pgo.3_5'Flank|MEIS3_uc002pgp.3_5'UTR|MEIS3_uc002pgr.3_Splice_Site_p.V18_splice|MEIS3_uc002pgs.3_Splice_Site_p.V150_splice|MEIS3_uc002pgt.3_Intron|MEIS3_uc010eld.3_Splice_Site_p.V150_splice	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	150	Ser/Thr-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTCGTGGACCTGGGGGGGCACC	0.683												
TP73	7161	broad.mit.edu	37	1	3644706	3644706	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:3644706delC	uc001akp.2	+	9	1109	c.999delC	c.(997-999)AGCfs	p.S333fs	TP73_uc001akq.2_Frame_Shift_Del_p.S333fs|TP73_uc010nzj.1_Frame_Shift_Del_p.S284fs|TP73_uc001akr.2_Frame_Shift_Del_p.S284fs|TP73_uc009vlk.1_Frame_Shift_Del_p.S284fs|TP73_uc001aks.2_Frame_Shift_Del_p.S284fs|TP73_uc010nzk.1_Frame_Shift_Del_p.S262fs|TP73_uc010nzl.1_5'UTR	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	333					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TCAAGCAGAGCCCCCCTGCCG	0.682												
HSPG2	3339	broad.mit.edu	37	1	22217111	22217112	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:22217111_22217112delCT	uc001bfj.2	-	4	360_361	c.320_321delAG	c.(319-321)GAGfs	p.E107fs	HSPG2_uc009vqd.2_Frame_Shift_Del_p.E107fs|HSPG2_uc009vqe.1_Intron	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	107	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCTCTCGGAACTCTCTGGAGCC	0.584												
ARID1A	8289	broad.mit.edu	37	1	27023716	27023716	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:27023716delG	uc001bmv.1	+	1	1195	c.822delG	c.(820-822)ATGfs	p.M274fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.M274fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.M274fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	274					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCGGGGCCATGGGGGGAGGCG	0.771			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
HPCA	3208	broad.mit.edu	37	1	33359401	33359401	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:33359401delA	uc001bwh.2	+	4	560	c.520delA	c.(520-522)AAAfs	p.K174fs		NM_002143	NP_002134	P84074	HPCA_HUMAN	hippocalcin	174	EF-hand 4.						actin binding|calcium ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCGCGGGGCCAAAAGCGACCC	0.692												
CDCP2	200008	broad.mit.edu	37	1	54605384	54605384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:54605384delC	uc001cwv.1	-	4	2007	c.1159delG	c.(1159-1161)GAGfs	p.E387fs		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2 precursor	387						extracellular region				ovary(1)	1						TGCAAAGCCTCCCCTTCGCCC	0.612												
FAM73A	374986	broad.mit.edu	37	1	78340642	78340643	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:78340642_78340643insT	uc001dhx.2	+	16	1824_1825	c.1792_1793insT	c.(1792-1794)CTTfs	p.L598fs	FAM73A_uc010ork.1_Frame_Shift_Ins_p.L599fs|FAM73A_uc010orl.1_Frame_Shift_Ins_p.L561fs	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	hypothetical protein LOC374986	598						integral to membrane				ovary(1)	1				Colorectal(170;0.226)		CCGCACTGAGCTTTTAATGGCC	0.431												
SPAG17	200162	broad.mit.edu	37	1	118567980	118567980	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:118567980delG	uc001ehk.2	-	27	3858	c.3790delC	c.(3790-3792)CAGfs	p.Q1264fs		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1264						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCACCCTCTGGGGGTAGCTC	0.458												
C10orf12	26148	broad.mit.edu	37	10	98742762	98742762	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:98742762delA	uc001kmv.2	+	1	1722	c.1615delA	c.(1615-1617)AAAfs	p.K539fs		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	539										skin(2)	2		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAAAGTTCCTAAAAATCCTAG	0.448												
GOLGA7B	401647	broad.mit.edu	37	10	99619319	99619319	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:99619319delC	uc001kos.2	+	2	182	c.117delC	c.(115-117)TTCfs	p.F39fs		NM_001010917	NP_001010917	Q2TAP0	GOG7B_HUMAN	golgi autoantigen, golgin subfamily a, 7B	39						Golgi membrane					0						AGACCAAATTCCCCCCAGAGC	0.522												
C10orf118	55088	broad.mit.edu	37	10	115885658	115885658	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:115885658delT	uc001lbb.1	-	15	3252	c.2600delA	c.(2599-2601)AATfs	p.N867fs	C10orf118_uc009xyd.1_Intron|C10orf118_uc001lbc.1_Frame_Shift_Del_p.N867fs|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	867	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CAAAGTAATATTTTTTAGTAA	0.383												
SYT8	90019	broad.mit.edu	37	11	1857168	1857168	+	Frame_Shift_Del	DEL	G	G	-	rs149898219		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:1857168delG	uc001lue.1	+	4	481	c.353delG	c.(352-354)TGGfs	p.W118fs	SYT8_uc010qxb.1_Frame_Shift_Del_p.W104fs|SYT8_uc001lud.2_Frame_Shift_Del_p.W118fs|SYT8_uc001luf.1_Frame_Shift_Del_p.W104fs	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	118	Cytoplasmic (Potential).					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			ovary(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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTCAGCAATGGGGGTGCCTG	0.627												
ARNTL	406	broad.mit.edu	37	11	13393940	13393941	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:13393940_13393941insT	uc001mkr.2	+	13	1459_1460	c.1051_1052insT	c.(1051-1053)GTTfs	p.V351fs	ARNTL_uc001mko.2_Frame_Shift_Ins_p.V307fs|ARNTL_uc001mkp.2_Frame_Shift_Ins_p.V350fs|ARNTL_uc001mkq.2_Frame_Shift_Ins_p.V350fs|ARNTL_uc001mks.2_Frame_Shift_Ins_p.V308fs|ARNTL_uc001mkt.2_Frame_Shift_Ins_p.V351fs|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkv.1_Frame_Shift_Ins_p.V308fs|ARNTL_uc001mkw.2_Frame_Shift_Ins_p.V308fs|ARNTL_uc001mkx.2_Frame_Shift_Ins_p.V349fs	NM_001178	NP_001169	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear	351	PAS 2.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0				Epithelial(150;0.0243)		TGGAAAGTTTGTTTTTGTAGAC	0.441												
OR4S1	256148	broad.mit.edu	37	11	48327887	48327888	+	Frame_Shift_Ins	INS	-	-	G	rs141535342		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:48327887_48327888insG	uc010rhu.1	+	1	113_114	c.113_114insG	c.(112-114)CTGfs	p.L38fs		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTCACTGTCCTGGGGAACCTTC	0.426												
CCDC87	55231	broad.mit.edu	37	11	66359045	66359046	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:66359045_66359046insT	uc001oiq.3	-	1	1509_1510	c.1441_1442insA	c.(1441-1443)ATGfs	p.M481fs	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	481										ovary(1)|skin(1)	2						ATCAATATCCATTTTTTCAATG	0.460												
ARHGAP9	64333	broad.mit.edu	37	12	57871381	57871381	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:57871381delG	uc001sod.2	-	7	1023	c.830delC	c.(829-831)CCAfs	p.P277fs	ARHGAP9_uc001sny.2_5'Flank|ARHGAP9_uc001snz.2_Frame_Shift_Del_p.P22fs|ARHGAP9_uc001soa.2_5'UTR|ARHGAP9_uc001sob.2_Frame_Shift_Del_p.P206fs|ARHGAP9_uc001soc.2_Frame_Shift_Del_p.P206fs|ARHGAP9_uc001soe.1_Frame_Shift_Del_p.P285fs|ARHGAP9_uc010sro.1_Frame_Shift_Del_p.P206fs	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	206					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)			TGCAGGGCCTGGGGGTGGGGA	0.637												
NEDD1	121441	broad.mit.edu	37	12	97334215	97334216	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:97334215_97334216delTT	uc001teu.3	+	10	1485_1486	c.1146_1147delTT	c.(1144-1149)ACTTTAfs	p.T382fs	NEDD1_uc001tev.3_Frame_Shift_Del_p.T382fs|NEDD1_uc010svc.1_Frame_Shift_Del_p.T293fs|NEDD1_uc001tew.2_Frame_Shift_Del_p.T389fs|NEDD1_uc001tex.2_Frame_Shift_Del_p.T293fs	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally	382_383					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol					0						ACACAGACACTTTATCTAAGGA	0.327												
ARL6IP4	51329	broad.mit.edu	37	12	123466320	123466322	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:123466320_123466322delGAA	uc001ued.2	+	3	787_789	c.732_734delGAA	c.(730-735)CTGAAG>CTG	p.K247del	ARL6IP4_uc001uec.2_In_Frame_Del_p.K239del|ARL6IP4_uc001uee.2_In_Frame_Del_p.K228del|ARL6IP4_uc001uef.2_In_Frame_Del_p.K228del|ARL6IP4_uc001ueg.2_RNA|ARL6IP4_uc009zxt.2_In_Frame_Del_p.K113del|ARL6IP4_uc001ueh.2_In_Frame_Del_p.K105del|ARL6IP4_uc001uei.2_In_Frame_Del_p.K116del	NM_018694	NP_061164	Q66PJ3	AR6P4_HUMAN	SRp25 nuclear protein isoform 1	247	Lys-rich.				RNA splicing	nucleus					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)		ggaagaagctgaagaagaagggc	0.310												
ZNF219	51222	broad.mit.edu	37	14	21558939	21558940	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:21558939_21558940insA	uc001vzr.2	-	5	2345_2346	c.1924_1925insT	c.(1924-1926)GGGfs	p.G642fs	ZNF219_uc001vzs.2_Frame_Shift_Ins_p.G642fs|ZNF219_uc010aik.1_Frame_Shift_Ins_p.G642fs	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	642					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GAGGGCACCCCCAGGCCCGGCC	0.738												
MMP14	4323	broad.mit.edu	37	14	23313707	23313709	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:23313707_23313709delTCT	uc001whc.2	+	7	1373_1375	c.1139_1141delTCT	c.(1138-1143)GTCTTC>GTC	p.F382del		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	382	Hemopexin-like 2.|Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GGCAAATTCGTCTTCTTCAAAGG	0.522												
SNW1	22938	broad.mit.edu	37	14	78217748	78217748	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:78217748delT	uc001xuf.2	-	3	271	c.244delA	c.(244-246)ATGfs	p.M82fs	SNW1_uc010tvm.1_Frame_Shift_Del_p.M7fs|SNW1_uc010asu.2_Intron|SNW1_uc010tvn.1_Frame_Shift_Del_p.M82fs	NM_012245	NP_036377	Q13573	SNW1_HUMAN	SKI-interacting protein	82					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCATTCGACATTTTTTTCTTT	0.408												
ASPG	374569	broad.mit.edu	37	14	104575600	104575600	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:104575600delG	uc001yoq.1	+	13	1528	c.1468delG	c.(1468-1470)GGGfs	p.G490fs	ASPG_uc001yop.1_Frame_Shift_Del_p.G490fs|ASPG_uc001yor.1_Frame_Shift_Del_p.G490fs	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	490	ANK 4.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						GCGGGAAGCCGGGGCCTCCCT	0.647												
B2M	567	broad.mit.edu	37	15	45007871	45007872	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:45007871_45007872delTT	uc001zuc.2	+	2	378_379	c.318_319delTT	c.(316-321)ACTTTGfs	p.T106fs	B2M_uc010uek.1_Frame_Shift_Del_p.T106fs|B2M_uc010bdx.1_3'UTR	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	106_107	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ACCATGTGACTTTGTCACAGCC	0.406												
MYO5C	55930	broad.mit.edu	37	15	52497137	52497139	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:52497137_52497139delAAG	uc010bff.2	-	38	4880_4882	c.4743_4745delCTT	c.(4741-4746)TTCTTG>TTG	p.F1581del	MYO5C_uc010uga.1_RNA|uc002abv.2_RNA	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	1581	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		CGCCCCGATCAAGAAGAAGAGCT	0.571												
TBC1D21	161514	broad.mit.edu	37	15	74177418	74177419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:74177418_74177419insT	uc002avz.2	+	6	636_637	c.553_554insT	c.(553-555)CTTfs	p.L185fs	TBC1D21_uc010ulc.1_Frame_Shift_Ins_p.L149fs	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	185	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(2)	2						GACCTTCTGGCTTTTCCAGTTC	0.584												
UBE2Q2	92912	broad.mit.edu	37	15	76170361	76170364	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:76170361_76170364delAAGT	uc002bbg.2	+	7	1120	c.734_splice	c.e7+1	p.K245_splice	UBE2Q2_uc002bbh.2_Splice_Site_p.K210_splice|UBE2Q2_uc010umn.1_Splice_Site_p.K229_splice|UBE2Q2_uc002bbi.2_Splice_Site_p.K126_splice	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q 2 isoform 1						protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			ovary(2)	2						TAAACTGCAGAAGTAAGTGGCTTT	0.358												
PDIA2	64714	broad.mit.edu	37	16	332296	332296	+	Splice_Site	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:332296delG	uc002cgn.1	+	4	413	c.-695_splice	c.e4-1		ARHGDIG_uc002cgm.1_Splice_Site_p.G113_splice|PDIA2_uc010bqt.1_5'Flank|PDIA2_uc002cgo.1_5'Flank	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor						apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TTCCCCAATAGGGGACCTGGC	0.577												
CCDC64B	146439	broad.mit.edu	37	16	3079314	3079316	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:3079314_3079316delCTC	uc002ctf.3	-	6	1117_1119	c.1072_1074delGAG	c.(1072-1074)GAGdel	p.E358del	CCDC64B_uc002cte.3_In_Frame_Del_p.E151del	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	358	Potential.										0						CCACCTCCTTCTCCTCCAGTATC	0.596												
BTBD12	84464	broad.mit.edu	37	16	3639090	3639090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:3639090delC	uc002cvp.2	-	12	5176	c.4549delG	c.(4549-4551)GAAfs	p.E1517fs		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1517	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CTCTGCTCTTCCCCGTCCCAA	0.617								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
SETD1A	9739	broad.mit.edu	37	16	30976237	30976237	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:30976237delC	uc002ead.1	+	7	1860	c.1174delC	c.(1174-1176)CCCfs	p.P392fs		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	392	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						ACGGGAGGAACCCCCTGGAGC	0.587												
SLC12A3	6559	broad.mit.edu	37	16	56920301	56920301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:56920301delC	uc010ccm.2	+	16	1980	c.1951delC	c.(1951-1953)CCCfs	p.P651fs	SLC12A3_uc002ekd.3_Frame_Shift_Del_p.P651fs|SLC12A3_uc010ccn.2_Frame_Shift_Del_p.P650fs	NM_001126108	NP_001119580	P55017	S12A3_HUMAN	solute carrier family 12, member 3 isoform 3	651					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCTCACGGGGCCCCCCAACTT	0.667												
PAFAH1B1	5048	broad.mit.edu	37	17	2579802	2579802	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:2579802delA	uc002fuw.3	+	9	1472	c.904delA	c.(904-906)AAAfs	p.K302fs	PAFAH1B1_uc010ckb.1_Intron|PAFAH1B1_uc010vqz.1_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	302	WD 5.|Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1						TCTGTAGACTAAAAAAAGTGG	0.358												
VTN	7448	broad.mit.edu	37	17	26696773	26696773	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:26696773delC	uc002hbc.2	-	3	433	c.284delG	c.(283-285)GGCfs	p.G95fs	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	95					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)	CAGGGAGGGGCCCCCCACCTG	0.592												
CSHL1	1444	broad.mit.edu	37	17	61988187	61988187	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:61988187delA	uc002jda.1	-	2	170	c.108delT	c.(106-108)TTTfs	p.F36fs	CSHL1_uc002jcz.1_Frame_Shift_Del_p.F36fs|CSHL1_uc002jdb.1_Intron|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Intron|CSHL1_uc002jde.2_Frame_Shift_Del_p.F64fs|CSHL1_uc002jdf.2_Intron|CSHL1_uc002jdg.2_Frame_Shift_Del_p.F36fs|CSHL1_uc002jdh.2_Intron	NM_022579	NP_072101	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	36						extracellular region	hormone activity|metal ion binding				0						TAGCCTCTTTAAAAAGCCTGG	0.597												
ABCA6	23460	broad.mit.edu	37	17	67081325	67081326	+	Splice_Site	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:67081325_67081326insA	uc002jhw.1	-	32	4205	c.4030_splice	c.e32-1	p.V1344_splice		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6						transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					CAGTTCCACCTAAAAAAATAAA	0.446												
GALK1	2584	broad.mit.edu	37	17	73759466	73759466	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:73759466delC	uc010wsi.1	-	3	473	c.410delG	c.(409-411)GGTfs	p.G137fs	GALK1_uc002jpk.2_Frame_Shift_Del_p.G137fs|GALK1_uc010wsj.1_Frame_Shift_Del_p.G137fs	NM_000154	NP_000145	P51570	GALK1_HUMAN	galactokinase 1	137	ATP (Potential).				galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding				0	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGACAGGCCACCCCCCAGGGG	0.652												
TGIF1	7050	broad.mit.edu	37	18	3452101	3452101	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:3452101delT	uc002klz.2	+	1	511	c.124delT	c.(124-126)TTTfs	p.F42fs	TGIF1_uc002klu.2_Intron|TGIF1_uc002klv.2_Intron|TGIF1_uc002klx.2_Intron|TGIF1_uc002klw.2_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.2_Intron|TGIF1_uc002kma.2_Intron|TGIF1_uc002kmb.2_5'Flank	NM_170695	NP_733796	Q15583	TGIF1_HUMAN	TG-interacting factor isoform a	42					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				CCAGTGCTCCTTTTCCACGGC	0.701												
PCSK4	54760	broad.mit.edu	37	19	1482151	1482152	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:1482151_1482152insG	uc002ltb.1	-	15	1936_1937	c.1874_1875insC	c.(1873-1875)CCGfs	p.P625fs	C19orf25_uc010xgn.1_5'Flank|C19orf25_uc010dsk.2_5'Flank|C19orf25_uc010xgo.1_5'Flank|PCSK4_uc002lsz.2_Frame_Shift_Ins_p.P112fs|PCSK4_uc002lta.2_3'UTR	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	625					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGAACCGCGGGGGGCAGTA	0.693												
DENND1C	79958	broad.mit.edu	37	19	6468936	6468936	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:6468936delC	uc002mfe.2	-	20	1528	c.1436delG	c.(1435-1437)GGCfs	p.G479fs	DENND1C_uc002mfb.2_Frame_Shift_Del_p.G29fs|DENND1C_uc002mfc.2_Frame_Shift_Del_p.G29fs|DENND1C_uc002mfd.2_Frame_Shift_Del_p.G29fs|DENND1C_uc010xje.1_Frame_Shift_Del_p.G435fs	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	479						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						CCTCAGAGAGCCCCCCCTCTG	0.627												
PGPEP1	54858	broad.mit.edu	37	19	18474214	18474215	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:18474214_18474215delTT	uc002nis.1	+	5	535_536	c.451_452delTT	c.(451-453)TTTfs	p.F151fs	PGPEP1_uc002nir.1_Intron|PGPEP1_uc002nit.1_Frame_Shift_Del_p.F74fs|PGPEP1_uc010xqg.1_Frame_Shift_Del_p.F74fs	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	151							cysteine-type peptidase activity				0						TCTCTGCGACTTTACCTACTAC	0.589												
UPF1	5976	broad.mit.edu	37	19	18975059	18975059	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:18975059delG	uc002nkg.2	+	20	3164	c.2889delG	c.(2887-2889)CAGfs	p.Q963fs	UPF1_uc002nkf.2_Frame_Shift_Del_p.Q952fs|UPF1_uc002nkh.2_Frame_Shift_Del_p.Q207fs	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	963					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGAGCAGCCAGGGTGAGTCGC	0.612												
NCAN	1463	broad.mit.edu	37	19	19359520	19359520	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:19359520delC	uc002nlz.2	+	14	3748	c.3649delC	c.(3649-3651)CCCfs	p.P1217fs	NCAN_uc002nma.2_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1217	Sushi.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GCTCTGTGGTCCCCCTCCGGC	0.448												
MLL4	9757	broad.mit.edu	37	19	36210893	36210893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:36210893delC	uc010eei.2	+	3	644	c.644delC	c.(643-645)ACCfs	p.T215fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	215					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCCCTCCACCCCCCGGCGG	0.687												
BCKDHA	593	broad.mit.edu	37	19	41916544	41916544	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:41916544delC	uc002oqq.2	+	2	140	c.111delC	c.(109-111)CACfs	p.H37fs	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Frame_Shift_Del_p.H71fs|BCKDHA_uc002oqp.1_5'UTR|BCKDHA_uc002oqr.2_Frame_Shift_Del_p.H37fs|BCKDHA_uc010xvz.1_Intron	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	37					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						TTCCCCAGCACCCCCCCAGGC	0.567												
CEACAM3	1084	broad.mit.edu	37	19	42300612	42300612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:42300612delG	uc002orn.1	+	1	79	c.3delG	c.(1-3)ATGfs	p.M1fs	CEACAM3_uc010eia.1_Frame_Shift_Del_p.M1fs|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	1						integral to membrane				skin(1)	1						CAGAGACCATGGGGCCCCCCT	0.597												
TULP2	7288	broad.mit.edu	37	19	49391244	49391245	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49391244_49391245insG	uc002pkz.2	-	8	1061_1062	c.910_911insC	c.(910-912)CTCfs	p.L304fs		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	304					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GAGGTAGTAGAGGGGGAACAAG	0.614												
TSKS	60385	broad.mit.edu	37	19	50248607	50248607	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50248607delC	uc002ppm.2	-	7	1050	c.1039delG	c.(1039-1041)GCGfs	p.A347fs		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	347							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TCCTGCACCGCCCCCTCCTCC	0.701												
NBAS	51594	broad.mit.edu	37	2	15618355	15618356	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:15618355_15618356insT	uc002rcc.1	-	13	1167_1168	c.1141_1142insA	c.(1141-1143)ATCfs	p.I381fs	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	381										ovary(2)|liver(1)|skin(1)	4						CTCACCTTTGATTTTTTTTCTC	0.317												
CCDC88A	55704	broad.mit.edu	37	2	55561544	55561544	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:55561544delT	uc002ryv.2	-	15	3255	c.2413delA	c.(2413-2415)ATAfs	p.I805fs	CCDC88A_uc010yoz.1_Frame_Shift_Del_p.I805fs|CCDC88A_uc010ypa.1_Frame_Shift_Del_p.I805fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.I707fs|CCDC88A_uc002ryu.2_Frame_Shift_Del_p.I88fs|CCDC88A_uc002ryw.2_Frame_Shift_Del_p.I88fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	805	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						TTGCTAGATATTTTTAGTTCT	0.318												
MRPS5	64969	broad.mit.edu	37	2	95753233	95753233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:95753233delG	uc002sub.2	-	12	1380	c.1162delC	c.(1162-1164)CGGfs	p.R388fs	MRPS5_uc002suc.2_RNA	NM_031902	NP_114108	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	388					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			ovary(2)|central_nervous_system(1)	3						AAGGGCCCCCGGGGGGACGCA	0.557												
MOGAT1	116255	broad.mit.edu	37	2	223559161	223559161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:223559161delG	uc010fws.1	+	4	607	c.559delG	c.(559-561)GGGfs	p.G187fs	MOGAT1_uc010fwt.1_Frame_Shift_Del_p.G147fs	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	187					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		CATTGTCCTTGGGGGTGCAAA	0.438												
ITPA	3704	broad.mit.edu	37	20	3193862	3193863	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:3193862_3193863insA	uc002wid.2	+	2	256_257	c.114_115insA	c.(112-117)CAGAAAfs	p.Q38fs	ITPA_uc002wie.2_Frame_Shift_Ins_p.Q21fs|ITPA_uc002wif.2_Intron	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN	inosine triphosphatase isoform a	38_39					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			ovary(1)	1						TGGTGGCACAGAAAATTGACCG	0.391												
SRC	6714	broad.mit.edu	37	20	36012784	36012784	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:36012784delG	uc002xgx.2	+	4	677	c.228delG	c.(226-228)CCGfs	p.P76fs	SRC_uc002xgy.2_Frame_Shift_Del_p.P76fs	NM_005417	NP_005408	P12931	SRC_HUMAN	proto-oncogene tyrosine-protein kinase SRC	76					axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	TCACCTCCCCGCAGAGGGCGG	0.806												
SLC13A3	64849	broad.mit.edu	37	20	45192166	45192166	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:45192166delG	uc002xsf.1	-	12	1557	c.1519delC	c.(1519-1521)CTGfs	p.L507fs	SLC13A3_uc010ghn.1_Frame_Shift_Del_p.L476fs|SLC13A3_uc010zxw.1_Frame_Shift_Del_p.L457fs|SLC13A3_uc002xsg.1_Frame_Shift_Del_p.L460fs|SLC13A3_uc010gho.1_Frame_Shift_Del_p.L425fs|SLC13A3_uc010zxx.1_Frame_Shift_Del_p.L409fs|SLC13A3_uc002xse.1_5'UTR|SLC13A3_uc010ghm.1_Frame_Shift_Del_p.L94fs|SLC13A3_uc010zxv.1_Frame_Shift_Del_p.L92fs	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	507	Helical; (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATCAGATACAGGGGGTGCACT	0.567												
NFATC2	4773	broad.mit.edu	37	20	50048652	50048652	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:50048652delC	uc002xwd.2	-	9	2894	c.2674delG	c.(2674-2676)GTGfs	p.V892fs	NFATC2_uc002xwc.2_Frame_Shift_Del_p.V892fs|NFATC2_uc010zyv.1_Frame_Shift_Del_p.V673fs|NFATC2_uc010zyw.1_Frame_Shift_Del_p.V673fs|NFATC2_uc010zyx.1_Frame_Shift_Del_p.V872fs|NFATC2_uc010zyy.1_Frame_Shift_Del_p.V673fs|NFATC2_uc010zyz.1_Frame_Shift_Del_p.V673fs|NFATC2_uc002xwe.2_Frame_Shift_Del_p.V872fs	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	892					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					TTAATGGTCACCCCCGCAGGT	0.512												
ZNF831	128611	broad.mit.edu	37	20	57768358	57768358	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:57768358delC	uc002yan.2	+	1	2284	c.2284delC	c.(2284-2286)CCCfs	p.P762fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	762						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GTGGCAGATGCCCCCAGCACC	0.642												
RGS19	10287	broad.mit.edu	37	20	62705236	62705237	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:62705236_62705237insA	uc002yhy.2	-	6	890_891	c.623_624insT	c.(622-624)CAGfs	p.Q208fs	RGS19_uc002yhz.2_Frame_Shift_Ins_p.Q186fs|RGS19_uc002yia.2_Frame_Shift_Ins_p.Q208fs|RGS19_uc002yib.2_Frame_Shift_Ins_p.Q208fs	NM_005873	NP_005864	P49795	RGS19_HUMAN	G protein signalling regulator 19	208	Interaction with GIPC.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			skin(1)	1	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GTGATGGCCCCTGCAGCAGCAG	0.663												
APP	351	broad.mit.edu	37	21	27423345	27423346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:27423345_27423346insC	uc002ylz.2	-	5	832_833	c.632_633insG	c.(631-633)GGCfs	p.G211fs	APP_uc010glk.2_Frame_Shift_Ins_p.G206fs|APP_uc002yma.2_Frame_Shift_Ins_p.G211fs|APP_uc011ach.1_Frame_Shift_Ins_p.G155fs|APP_uc002ymb.2_Frame_Shift_Ins_p.G211fs|APP_uc010glj.2_Frame_Shift_Ins_p.G155fs|APP_uc011aci.1_Frame_Shift_Ins_p.G176fs|APP_uc011acj.1_Frame_Shift_Ins_p.G211fs	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	211	Extracellular (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				TGTCTGCTCCGCCCCACCAGAC	0.495												
CCT8L2	150160	broad.mit.edu	37	22	17072177	17072177	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:17072177delT	uc002zlp.1	-	1	1524	c.1264delA	c.(1264-1266)ATGfs	p.M422fs		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	422					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	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)				TCAGAAAGCATTTTTGCCAAA	0.502												
CLDN5	7122	broad.mit.edu	37	22	19511720	19511720	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:19511720delC	uc002zpu.2	-	2	529	c.314delG	c.(313-315)GGTfs	p.G105fs	CLDN5_uc010grr.2_Frame_Shift_Del_p.G105fs	NM_003277	NP_003268	O00501	CLD5_HUMAN	claudin 5	20	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0	Colorectal(54;0.0993)					CAGGATCAGACCCCCCCAGCC	0.687												
KIAA1407	57577	broad.mit.edu	37	3	113755558	113755558	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:113755558delT	uc003eax.2	-	5	638	c.491delA	c.(490-492)AATfs	p.N164fs	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Frame_Shift_Del_p.N142fs|KIAA1407_uc011bip.1_Frame_Shift_Del_p.N151fs	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	164										ovary(2)	2						ATCTACCACATTTTTATGGAG	0.403												
CCDC37	348807	broad.mit.edu	37	3	126138498	126138499	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:126138498_126138499delAG	uc003eiu.1	+	9	849_850	c.750_751delAG	c.(748-753)GAAGACfs	p.E250fs	CCDC37_uc010hsg.1_Frame_Shift_Del_p.E251fs	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	250_251	Potential.									ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.166)		CCAGATTTGAAGACACTCTGAA	0.530												
NCEH1	57552	broad.mit.edu	37	3	172365825	172365826	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:172365825_172365826insT	uc011bpx.1	-	2	451_452	c.313_314insA	c.(313-315)AGCfs	p.S105fs	NCEH1_uc003fig.2_Frame_Shift_Ins_p.S105fs|NCEH1_uc011bpw.1_5'UTR|NCEH1_uc011bpy.1_Intron	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN	arylacetamide deacetylase-like 1 isoform a	73	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity				0						AGACCACGCGCTTTTTTTGCCA	0.505												
TBL1XR1	79718	broad.mit.edu	37	3	176769342	176769342	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:176769342delT	uc003fiw.3	-	5	637	c.377delA	c.(376-378)AATfs	p.N126fs	TBL1XR1_uc003fix.3_Frame_Shift_Del_p.N126fs|TBL1XR1_uc011bpz.1_Translation_Start_Site|TBL1XR1_uc003fiy.2_Frame_Shift_Del_p.N126fs	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	126					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GTTTTCTCCATTTTTTGCAGA	0.418												
BOD1L	259282	broad.mit.edu	37	4	13610189	13610189	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:13610189delT	uc003gmz.1	-	8	1824	c.1707delA	c.(1705-1707)AAAfs	p.K569fs	BOD1L_uc010idr.1_5'UTR	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	569	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						TTAAGGCTACTTTTTTTTCTA	0.368												
PROM1	8842	broad.mit.edu	37	4	16000022	16000022	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:16000022delA	uc003goo.2	-	14	1880	c.1668delT	c.(1666-1668)TTTfs	p.F556fs	PROM1_uc003gor.2_Frame_Shift_Del_p.F556fs|PROM1_uc003gos.2_Frame_Shift_Del_p.F547fs|PROM1_uc003got.2_Frame_Shift_Del_p.F556fs|PROM1_uc003gou.2_Frame_Shift_Del_p.F547fs|PROM1_uc003gop.2_Frame_Shift_Del_p.F547fs|PROM1_uc003goq.3_Frame_Shift_Del_p.F547fs	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	556	Extracellular (Potential).				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						AAACTTGTTCAAAAGTGAGCT	0.303												
EPHA5	2044	broad.mit.edu	37	4	66286254	66286255	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:66286254_66286255insT	uc003hcy.2	-	6	1624_1625	c.1431_1432insA	c.(1429-1434)AAAGGGfs	p.K477fs	EPHA5_uc003hcx.2_Frame_Shift_Ins_p.K408fs|EPHA5_uc003hcz.2_Frame_Shift_Ins_p.K477fs|EPHA5_uc011cah.1_Frame_Shift_Ins_p.K477fs|EPHA5_uc011cai.1_Frame_Shift_Ins_p.K477fs|EPHA5_uc003hda.2_Frame_Shift_Ins_p.K477fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	477_478	Extracellular (Potential).|Fibronectin type-III 2.				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						GCAATTTTCCCTTTTTTCACAT	0.356										TSP Lung(17;0.13)		
PRDM8	56978	broad.mit.edu	37	4	81121307	81121308	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:81121307_81121308insT	uc010ijo.2	+	6	912_913	c.73_74insT	c.(73-75)ATTfs	p.I25fs	PRDM8_uc003hmb.3_Frame_Shift_Ins_p.I25fs|PRDM8_uc003hmc.3_Frame_Shift_Ins_p.I25fs	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	25	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TCTGACAGATATTTTTACCAGC	0.475												
DAP	1611	broad.mit.edu	37	5	10748323	10748325	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:10748323_10748325delTCT	uc003jez.3	-	2	321_323	c.114_116delAGA	c.(112-117)GAAGAG>GAG	p.38_39EE>E	DAP_uc011cmw.1_In_Frame_Del_p.38_39EE>E	NM_004394	NP_004385	P51397	DAP1_HUMAN	death-associated protein	38_39					activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding				0		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				CTTGTCTTTCTCTTCTTTGGTGT	0.448												
RAD17	5884	broad.mit.edu	37	5	68689214	68689218	+	Frame_Shift_Del	DEL	TTATT	TTATT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:68689214_68689218delTTATT	uc003jwo.2	+	12	1404_1408	c.1342_1346delTTATT	c.(1342-1347)TTATTTfs	p.L448fs	RAD17_uc003jwg.2_Frame_Shift_Del_p.L437fs|RAD17_uc003jwh.2_Frame_Shift_Del_p.L437fs|RAD17_uc003jwi.2_Frame_Shift_Del_p.L437fs|RAD17_uc003jwj.2_Frame_Shift_Del_p.L437fs|RAD17_uc003jwk.2_Frame_Shift_Del_p.L437fs|RAD17_uc003jwl.2_Frame_Shift_Del_p.L437fs|RAD17_uc003jwm.2_Frame_Shift_Del_p.L272fs|RAD17_uc003jwn.2_Frame_Shift_Del_p.L351fs|RAD17_uc003jwp.2_Frame_Shift_Del_p.L8fs	NM_133339	NP_579917	O75943	RAD17_HUMAN	RAD17 homolog isoform 2	448_449	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GCCTGGAGACTTATTTAATTTATAT	0.322								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes				
MCC	4163	broad.mit.edu	37	5	112363035	112363037	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:112363035_112363037delCTC	uc003kqj.3	-	17	2982_2984	c.2452_2454delGAG	c.(2452-2454)GAGdel	p.E818del	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_In_Frame_Del_p.E1008del	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	818					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCTGGAGTTCTCCTCCTCTAGC	0.507												
KIF13A	63971	broad.mit.edu	37	6	17788023	17788023	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:17788023delT	uc003ncg.3	-	27	3450	c.3345delA	c.(3343-3345)AAAfs	p.K1115fs	KIF13A_uc003ncf.2_Frame_Shift_Del_p.K1102fs|KIF13A_uc003nch.3_Frame_Shift_Del_p.K1115fs|KIF13A_uc003nci.3_Frame_Shift_Del_p.K1102fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1115	Potential.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TATTGCTGACTTTTTTTATCT	0.413												
MUC21	394263	broad.mit.edu	37	6	30955877	30955877	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:30955877delC	uc003nsh.2	+	3	1858	c.1607delC	c.(1606-1608)GCCfs	p.A536fs	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	536	Cytoplasmic (Potential).|Cytoplasmic tail.					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						AATCATGGAGCCCCCCACAGG	0.592												
C6orf27	80737	broad.mit.edu	37	6	31740831	31740833	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:31740831_31740833delCTC	uc011dog.1	-	7	1223_1225	c.985_987delGAG	c.(985-987)GAGdel	p.E329del	C6orf27_uc003nxd.2_In_Frame_Del_p.E4del|C6orf27_uc011doh.1_RNA	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	329						extracellular region				ovary(3)	3						CAGCGTTGATCTCCTCACCCATG	0.616												
HLA-DPA1	3113	broad.mit.edu	37	6	33037042	33037042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:33037042delC	uc003ocs.1	-	3	413	c.382delG	c.(382-384)GTGfs	p.V128fs	HLA-DPA1_uc010juk.2_Frame_Shift_Del_p.V128fs|HLA-DPA1_uc003oct.1_Frame_Shift_Del_p.V128fs	NM_033554	NP_291032	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP	128	Alpha-2.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			skin(1)	1						CCCAGCTCCACAGGCTCCTTG	0.577												
FANCE	2178	broad.mit.edu	37	6	35427229	35427229	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:35427229delC	uc003oko.1	+	6	1420	c.1235delC	c.(1234-1236)ACAfs	p.T412fs	FANCE_uc010jvw.1_Frame_Shift_Del_p.T405fs	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	412					DNA repair	nucleoplasm	protein binding			ovary(1)|lung(1)|skin(1)	3						GCCCCAGGCACAGGTAATTCT	0.597			N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
TRERF1	55809	broad.mit.edu	37	6	42236161	42236161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:42236161delG	uc003osd.2	-	5	1731	c.1168delC	c.(1168-1170)CTCfs	p.L390fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.L390fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.L229fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.L229fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.L390fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	390	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCTGGTAGAGGGGGTGGCTG	0.612												
RIMS1	22999	broad.mit.edu	37	6	73107977	73107977	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:73107977delA	uc003pga.2	+	32	4722	c.4645delA	c.(4645-4647)AAAfs	p.K1549fs	RIMS1_uc011dyb.1_Frame_Shift_Del_p.K946fs|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Frame_Shift_Del_p.K869fs|RIMS1_uc011dyc.1_Frame_Shift_Del_p.K674fs|RIMS1_uc010kar.2_Frame_Shift_Del_p.K617fs|RIMS1_uc011dyd.1_Frame_Shift_Del_p.K683fs|RIMS1_uc003pgf.2_Frame_Shift_Del_p.K549fs|RIMS1_uc003pgg.2_Frame_Shift_Del_p.K445fs|RIMS1_uc003pgi.2_Frame_Shift_Del_p.K365fs|RIMS1_uc003pgh.2_Frame_Shift_Del_p.K416fs|RIMS1_uc003pgd.2_Frame_Shift_Del_p.K615fs|RIMS1_uc003pge.2_Frame_Shift_Del_p.K589fs|RIMS1_uc011dye.1_Frame_Shift_Del_p.K355fs|RIMS1_uc011dyf.1_Frame_Shift_Del_p.K173fs|RIMS1_uc011dyg.1_Frame_Shift_Del_p.K76fs	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1549	C2 2.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AATGGAGGACAAAAAGGGCCA	0.418												
ZNF292	23036	broad.mit.edu	37	6	87970973	87970974	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:87970973_87970974insA	uc003plm.3	+	8	7667_7668	c.7626_7627insA	c.(7624-7629)AATAAAfs	p.N2542fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2542_2543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCTCACAAAATAAAAAAAGGAA	0.356												
IGF2BP3	10643	broad.mit.edu	37	7	23385596	23385596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:23385596delT	uc003swg.2	-	8	1170	c.904delA	c.(904-906)ATTfs	p.I302fs	IGF2BP3_uc003swf.2_5'UTR	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	302	KH 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2						TCTTGCTCAATTTTTTTAAGA	0.353												
HOXA3	3200	broad.mit.edu	37	7	27149901	27149901	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:27149901delG	uc011jzl.1	-	2	559	c.359delC	c.(358-360)CCGfs	p.P120fs	HOXA3_uc011jzk.1_Intron|HOXA3_uc003syk.2_Frame_Shift_Del_p.P120fs	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	120	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						AGAGggaggcgggggcgcggc	0.299												
ADCY1	107	broad.mit.edu	37	7	45650044	45650044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:45650044delC	uc003tne.3	+	3	874	c.856delC	c.(856-858)CCCfs	p.P286fs	ADCY1_uc003tnd.2_Frame_Shift_Del_p.P61fs	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	286	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTTCCTGAAGCCCCCTGAGAG	0.597												
PDAP1	11333	broad.mit.edu	37	7	99002491	99002493	+	In_Frame_Del	DEL	CTT	CTT	-	rs141998655		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:99002491_99002493delCTT	uc003uqe.2	-	2	218_220	c.97_99delAAG	c.(97-99)AAGdel	p.K33del		NM_014891	NP_055706	Q13442	HAP28_HUMAN	PDGFA associated protein 1	33					cell proliferation|signal transduction						0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	TCACCCTGGCCTTCTGCTTCTCA	0.616												
CDHR3	222256	broad.mit.edu	37	7	105655642	105655642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:105655642delC	uc003vdl.3	+	10	1418	c.1310delC	c.(1309-1311)GCCfs	p.A437fs	CDHR3_uc003vdk.2_Frame_Shift_Del_p.A85fs|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Frame_Shift_Del_p.A424fs|CDHR3_uc011klt.1_Frame_Shift_Del_p.A349fs|CDHR3_uc003vdn.2_Frame_Shift_Del_p.A154fs	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	437	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CAGGATGTGGCCCCCCCTTAC	0.393												
HGSNAT	138050	broad.mit.edu	37	8	43054586	43054587	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:43054586_43054587insA	uc003xpx.3	+	18	1830_1831	c.1782_1783insA	c.(1780-1785)CCCTTTfs	p.P594fs		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	622_623	Lumenal, vesicle (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ACTACTTCCCCTTTCAGTGGAA	0.485												
ZFHX4	79776	broad.mit.edu	37	8	77617547	77617547	+	Frame_Shift_Del	DEL	G	G	-	rs13250763		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:77617547delG	uc003yav.2	+	2	1611	c.1224delG	c.(1222-1224)CTGfs	p.L408fs	ZFHX4_uc003yat.1_Frame_Shift_Del_p.L408fs|ZFHX4_uc003yau.1_Frame_Shift_Del_p.L408fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.L408fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	408						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)			AAGTGAATCTGGGGGGGCTGT	0.537										HNSCC(33;0.089)		
CDH17	1015	broad.mit.edu	37	8	95182766	95182766	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:95182766delA	uc003ygh.2	-	9	1050	c.925delT	c.(925-927)TATfs	p.Y309fs	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Frame_Shift_Del_p.Y309fs	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	309	Extracellular (Potential).|Cadherin 3.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GCAACTGCATAAAAAACATAC	0.373												
TRPS1	7227	broad.mit.edu	37	8	116631681	116631682	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:116631681_116631682insT	uc003ynz.2	-	2	1063_1064	c.604_605insA	c.(604-606)ACTfs	p.T202fs	TRPS1_uc011lhy.1_Frame_Shift_Ins_p.T206fs|TRPS1_uc003yny.2_Frame_Shift_Ins_p.T215fs|TRPS1_uc010mcy.2_Frame_Shift_Ins_p.T202fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	202					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)			CAGTAAGTCAGTTTTGGATTTA	0.470									Langer-Giedion_syndrome			
SLC45A4	57210	broad.mit.edu	37	8	142228274	142228274	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:142228274delC	uc003ywd.1	-	4	1620	c.1312delG	c.(1312-1314)GAGfs	p.E438fs	SLC45A4_uc003ywc.1_Frame_Shift_Del_p.E438fs|SLC45A4_uc010meq.1_Frame_Shift_Del_p.E436fs	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	489					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GTCTCGCCCTCCCCCTCCTCA	0.672												
FOXH1	8928	broad.mit.edu	37	8	145700011	145700012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:145700011_145700012insC	uc003zdc.2	-	3	1286_1287	c.707_708insG	c.(706-708)GGAfs	p.G236fs		NM_003923	NP_003914	O75593	FOXH1_HUMAN	forkhead box H1	236					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCCGATGGCTCCCCCCTGCAC	0.698												
NOL8	55035	broad.mit.edu	37	9	95076596	95076597	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:95076596_95076597insT	uc004arv.2	-	7	2647_2648	c.2310_2311insA	c.(2308-2313)AAAGCAfs	p.K770fs	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Frame_Shift_Ins_p.K702fs	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	770_771	Potential.				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						ACTTCTTTTGCTTTTTGCCTCG	0.386												
SEC16A	9919	broad.mit.edu	37	9	139345823	139345823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:139345823delG	uc004chx.2	-	23	6506	c.6197delC	c.(6196-6198)CCAfs	p.P2066fs	SEC16A_uc004chr.2_5'Flank|SEC16A_uc004chs.2_5'UTR|SEC16A_uc004cht.2_Frame_Shift_Del_p.P97fs|SEC16A_uc004chu.2_Frame_Shift_Del_p.P251fs|SEC16A_uc004chv.3_Frame_Shift_Del_p.P1456fs|SEC16A_uc004chw.2_Frame_Shift_Del_p.P2066fs|SEC16A_uc010nbn.2_Frame_Shift_Del_p.P2066fs	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1888	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATCCCACCCTGGGGGGGCCTC	0.632												
MAMDC4	158056	broad.mit.edu	37	9	139752533	139752534	+	Frame_Shift_Ins	INS	-	-	CGAG			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:139752533_139752534insCGAG	uc004cjs.2	+	20	2617_2618	c.2567_2568insCGAG	c.(2566-2568)GCCfs	p.A856fs	MAMDC4_uc011mej.1_Frame_Shift_Ins_p.A193fs	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	935	MAM 5.|Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GACGTGCAGGCCGAGCGAGCCT	0.653												
PHF8	23133	broad.mit.edu	37	X	54048751	54048751	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:54048751delT	uc004dsu.2	-	4	415	c.342delA	c.(340-342)AAAfs	p.K114fs	PHF8_uc004dst.2_Frame_Shift_Del_p.K78fs|PHF8_uc004dsw.2_Frame_Shift_Del_p.K78fs|PHF8_uc004dsy.2_Frame_Shift_Del_p.K78fs	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	114	Linker.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						TCTTCACTGGTTTCCCCTTGT	0.522												
GPC4	2239	broad.mit.edu	37	X	132548849	132548849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:132548849delG	uc004exc.1	-	1	357	c.145delC	c.(145-147)CTCfs	p.L49fs	GPC4_uc011mvg.1_5'Flank	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	49					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)					ATCTCGTGGAGGGGGGCATCG	0.647												
ACAP3	116983	broad.mit.edu	37	1	1237376	1237377	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:1237375_1237376C>CA	uc001aeb.2	-	4	404_405	c.330_331G>TG	c.(328-333)tttgtcfs	p.F110fs	ACAP3_uc001aea.2_Frame_Shift_Ins_p.F68fs|ACAP3_uc001aec.1_Frame_Shift_Ins_p.F68fs	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	110					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CACTCTTTGACAAAGCTCTGGA	0.653												
EPHA2	1969	broad.mit.edu	37	1	16462199	16462199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:16462198_16462198CG>C	uc001aya.2	-	5	1535	c.1380_1380CG>G	c.(1378-1380)ccgfs	p.P460fs	EPHA2_uc010oca.2_Frame_Shift_Del_p.P460fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	460	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	p.P460fs*33(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCTGCTGCGGCGGGGGGATGC	0.662												
AKR7A2	8574	broad.mit.edu	37	1	19635035	19635035	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:19635034_19635034TG>T	uc001bbw.3	-	1	423	c.401_401CA>A	c.(400-402)caafs	p.Q134fs	AKR7A2_uc009vpi.1_Frame_Shift_Del_p.Q134fs	NM_003689	NP_003680	O43488	ARK72_HUMAN	Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA.	134					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		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;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGTCCACTTGGGGACACTG	0.602												
MAN1C1	57134	broad.mit.edu	37	1	26104629	26104630	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:26104628_26104629C>CG	uc001bkm.2	+	8	1620_1621	c.1290_1291C>CG	c.(1288-1293)cccgggfs	p.P430fs	MAN1C1_uc009vry.1_Frame_Shift_Ins_p.P250fs	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	430					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.G431G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATGTCTCTCCCGGGGGGCTGAC	0.639												
SLC9A1	6548	broad.mit.edu	37	1	27426906	27426906	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:27426905_27426905CG>C	uc001bnm.3	-	11	2967	c.2341_2341CG>G	c.(2341-2343)gcgfs	p.A781fs	SLC9A1_uc001bnl.3_Frame_Shift_Del_p.A285fs|SLC9A1_uc010ofk.2_Frame_Shift_Del_p.A442fs	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	781					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.A781V(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TCACTGGGCGCGGGGGTGAAG	0.642												
RCC1	1104	broad.mit.edu	37	1	28856410	28856411	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:28856409_28856410T>TC	uc001bqb.2	+	4	430_431	c.31_32T>TC	c.(31-33)tccfs	p.S11fs	RCC1_uc001bqa.2_Frame_Shift_Ins_p.S11fs|RCC1_uc001bqc.2_Frame_Shift_Ins_p.S11fs|RCC1_uc001bqe.2_Frame_Shift_Ins_p.S11fs|RCC1_uc001bqf.2_Frame_Shift_Ins_p.S11fs|RCC1_uc001bqg.2_Frame_Shift_Ins_p.S11fs	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	11					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TAAAAGAAGGTCCCCCCCAGCA	0.500												
CCDC30	728621	broad.mit.edu	37	1	43110402	43110402	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:43110401_43110401GA>G	uc009vwk.1	+	12	1923	c.1813_1813GA>G	c.(1813-1815)gaafs	p.E605fs	CCDC30_uc001chm.2_Frame_Shift_Del_p.E303fs|CCDC30_uc001chn.2_Frame_Shift_Del_p.E394fs	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	605										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GCAATTACAGGAAAATAGTCT	0.373												
FAM73A	374986	broad.mit.edu	37	1	78340643	78340644	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:78340642_78340643C>CT	uc010ork.2	+	15	1827_1828	c.1795_1796C>CT	c.(1795-1797)cttfs	p.L599fs	FAM73A_uc001dhx.3_Frame_Shift_Ins_p.L598fs|FAM73A_uc010orl.2_Frame_Shift_Ins_p.L561fs	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	598						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CCGCACTGAGCTTTTAATGGCC	0.431												
MAN1A2	10905	broad.mit.edu	37	1	118039461	118039461	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:118039460_118039460GA>G	uc001ehd.1	+	9	2081	c.1360_1360GA>G	c.(1360-1362)gaafs	p.E454fs	MAN1A2_uc009whg.1_Frame_Shift_Del_p.E244fs	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	454					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGGGCACTTGGAAAAAAAGAT	0.413												
SLC27A3	11000	broad.mit.edu	37	1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:153751859_153751859TC>T	uc001fcz.3	+	8	1991	c.1926_1926TC>T	c.(1924-1926)cgtfs	p.R642fs	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	642					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TAGTTCTGCGTCCCCCCCACG	0.622												
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917509	+	In_Frame_Ins	INS	-	-	GGT	rs143592003		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:154917507_154917508C>CGGT	uc001ffr.3	-	10	2247_2248	c.2188_2189G>ACCG	c.(2188-2190)cgg>ACCGg	p.R730T	PBXIP1_uc001ffs.3_In_Frame_Ins_p.R701T|PBXIP1_uc010pep.2_In_Frame_Ins_p.R575T	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	730					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGTCAGCCCCGGTGGTGGTGG	0.634												
USP21	27005	broad.mit.edu	37	1	161134660	161134660	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:161134659_161134659CA>C	uc010pkc.2	+	11	1796	c.1419_1419CA>C	c.(1417-1419)atcfs	p.I473fs	USP21_uc010pkd.2_Frame_Shift_Del_p.I473fs|USP21_uc021pbv.1_Non-coding_Transcript|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	473					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGGCTCCATCAAAAAAAGTT	0.517												
FCGR3A	2214	broad.mit.edu	37	1	161514529	161514529	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:161514528_161514528AT>A	uc001gar.3	-	3	832	c.648_648AT>T	c.(646-648)aatfs	p.N216fs	FCGR3A_uc001gas.3_Frame_Shift_Del_p.N215fs|FCGR3A_uc001gat.4_Frame_Shift_Del_p.N180fs|FCGR3A_uc009wuh.3_Frame_Shift_Del_p.N179fs|FCGR3A_uc009wui.3_Frame_Shift_Del_p.N180fs	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	180					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTGAAGACACATTTTTACTCC	0.483												
HMCN1	83872	broad.mit.edu	37	1	186024782	186024783	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:186024781_186024782C>CA	uc001grq.1	+	44	7348_7349	c.7119_7120C>CA	c.(7117-7122)gacaaafs	p.D2373fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2373	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			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						GAATGACTGACAAAAAATATGA	0.421												
PLEKHA6	22874	broad.mit.edu	37	1	204228471	204228472	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:204228470_204228471A>AT	uc001hau.3	-	7	1239_1240	c.922_923T>AT	c.(922-924)attfs	p.I308fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	308	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCGCTGGGCAATTTTGTCAGGG	0.644												
LEMD1	93273	broad.mit.edu	37	1	205388453	205388453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:205388452_205388452CT>C	uc001hcj.2	-	2	246	c.111_111AG>G	c.(109-111)aagfs	p.K37fs	LEMD1_uc001hcl.2_Intron|LEMD1_uc001hci.2_Frame_Shift_Del_p.K37fs|LEMD1_uc001hcm.2_Intron|LEMD1_uc001hcn.2_Intron|LEMD1_uc001hck.2_Non-coding_Transcript	NM_001199050	NP_001185979	Q68G75	LEMD1_HUMAN	Homo sapiens LEM domain containing 1 (LEMD1), transcript variant 1, mRNA.	37	LEM.					integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			ACTGTACTAACTTTTTTTCAT	0.438												
PLXNA2	5362	broad.mit.edu	37	1	208315787	208315788	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:208315786_208315787T>TGG	uc001hgz.3	-	3	2151_2152	c.1393_1394A>CCA	c.(1393-1395)catfs	p.H465fs		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	465	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.H465fs*57(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594												
TP53BP2	7159	broad.mit.edu	37	1	223991931	223991931	+	Frame_Shift_Del	DEL	T	T	-	rs146703239		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:223991930_223991930CT>C	uc001hod.3	-	6	1019	c.208_208AG>G	c.(208-210)gtgfs	p.V70fs	TP53BP2_uc010pvb.2_Frame_Shift_Del_p.V199fs|TP53BP2_uc010pva.2_5'Flank	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	193					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGTGCTCTCACTTTTTTTAGC	0.378												
ABCB10	23456	broad.mit.edu	37	1	229661733	229661733	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr1:229661732_229661732GA>G	uc001htp.4	-	9	1900	c.1857_1857TC>C	c.(1855-1857)ttcfs	p.F619fs		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	619	ABC transporter.			FIRNFPQG -> SPEFPPR (in Ref. 6; AAA84438).		integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				ACCCTTGGGGGAAATTCCGGA	0.473												
NBAS	51594	broad.mit.edu	37	2	15618356	15618357	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:15618355_15618356A>AT	uc002rcc.1	-	12	1167_1168	c.1141_1142T>AT	c.(1141-1143)atcfs	p.I381fs	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	381								p.I381fs*4(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTCACCTTTGATTTTTTTTCTC	0.317												
STRN	6801	broad.mit.edu	37	2	37096869	37096872	+	Splice_Site	DEL	CTAT	CTAT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:37096868_37096871GCTAT>G	uc002rpn.3	-	11	1333	c.1324_splice	c.e11-1	p.I442_splice	STRN_uc010ezx.3_Splice_Site_p.I405_splice	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	442					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTTATTGTTTGCTATCTATTAAAG	0.368												
PSME4	23198	broad.mit.edu	37	2	54122748	54122748	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:54122747_54122747GT>G	uc002rxp.2	-	32	3871	c.3815_3815AC>C	c.(3814-3816)actfs	p.T1272fs	PSME4_uc010yop.1_Frame_Shift_Del_p.T1158fs|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Frame_Shift_Del_p.T647fs|PSME4_uc010fbv.1_Frame_Shift_Del_p.T416fs	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1272					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)			TCCCCAGTGAGTTTTTTCCAC	0.373												
PSME4	23198	broad.mit.edu	37	2	54167140	54167141	+	Splice_Site	INS	-	-	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:54167139_54167140T>TG	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	p.?(1)		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)			TCTACAGAACTGGGGGGGGAAA	0.347												
CCDC104	112942	broad.mit.edu	37	2	55771155	55771155	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:55771154_55771154CA>C	uc002ryx.2	+	8	994	c.796_796CA>C	c.(796-798)caafs	p.Q266fs	CCDC104_uc002ryy.2_Frame_Shift_Del_p.Q241fs	NM_080667	NP_542398	Q96G28	CC104_HUMAN	Homo sapiens coiled-coil domain containing 104 (CCDC104), mRNA.	241										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTCCCTCCCACAAAAAGACCT	0.388												
SMEK2	57223	broad.mit.edu	37	2	55813848	55813848	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:55813847_55813847AC>A	uc002rzc.3	-	5	1715	c.1023_1023GT>T	c.(1021-1023)tgtfs	p.C341fs	SMEK2_uc002rzb.3_Frame_Shift_Del_p.C341fs|SMEK2_uc002rzd.3_Frame_Shift_Del_p.C341fs|SMEK2_uc002rza.3_Frame_Shift_Del_p.C217fs	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	341						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGAAAATGCACAAAACTCCT	0.333												
FBXO48	554251	broad.mit.edu	37	2	68691370	68691370	+	Frame_Shift_Del	DEL	C	C	-	rs36078393		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:68691369_68691369TC>T	uc002seo.3	-	3	848	c.440_440GA>A	c.(439-441)gaafs	p.E147fs		NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN	Homo sapiens F-box protein 48 (FBXO48), mRNA.	147										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTCTAGAATTTCCCCCCATGT	0.388												
NCAPH	23397	broad.mit.edu	37	2	97025921	97025921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:97025920_97025920CA>C	uc002svz.1	+	10	1481	c.1397_1397CA>C	c.(1396-1398)acafs	p.T466fs	NCAPH_uc010fhv.1_Frame_Shift_Del_p.T455fs|NCAPH_uc010yum.1_Frame_Shift_Del_p.T442fs|NCAPH_uc010yun.1_Frame_Shift_Del_p.T330fs	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	466					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AAGAAGAGTACAAAAAAAGAT	0.328												
UNC50	25972	broad.mit.edu	37	2	99226437	99226438	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:99226436_99226437CAG>C	uc010yvl.2	+	1	499_500	c.265_266CAG>C	c.(265-267)cagfs	p.Q89fs	COA5_uc002syz.3_5'Flank|UNC50_uc002szc.4_Frame_Shift_Del_p.Q72fs|UNC50_uc002szb.3_Frame_Shift_Del_p.Q72fs	NM_014044	NP_054763	Q53HI1	UNC50_HUMAN	Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA.	72					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						TTATCGAAAACAGACGAAGGAC	0.450												
ST6GAL2	84620	broad.mit.edu	37	2	107459971	107459971	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:107459970_107459970TC>T	uc002tdq.3	-	1	583	c.464_464GA>A	c.(463-465)gagfs	p.E155fs	ST6GAL2_uc002tdr.3_Frame_Shift_Del_p.E155fs|ST6GAL2_uc002tds.3_Frame_Shift_Del_p.E155fs	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	155					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.E155E(1)|p.E155fs*19(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGGGCCTGGCTCCCCGGGGGA	0.627												
EN1	2019	broad.mit.edu	37	2	119604427	119604427	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:119604426_119604426GA>G	uc002tlm.3	-	0	1334	c.318_318TC>C	c.(316-318)ttcfs	p.F106fs		NM_001426	NP_001417	Q05925	HME1_HUMAN	Homo sapiens engrailed homeobox 1 (EN1), mRNA.	106					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						TGTTGTCGATGAAAAAGTTGG	0.697												
MKI67IP	84365	broad.mit.edu	37	2	122488496	122488496	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:122488495_122488495CT>C	uc002tnk.3	-	3	615	c.538_538AG>G	c.(538-540)ggafs	p.G180fs	MKI67IP_uc010fls.3_Frame_Shift_Del_p.G180fs	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN	Homo sapiens MKI67 (FHA domain) interacting nucleolar phosphoprotein (MKI67IP), mRNA.	180					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TAGTCAATTCCTTTTTTAGCT	0.383												
YSK4	80122	broad.mit.edu	37	2	135743471	135743471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:135743470_135743470AT>A	uc002tue.1	-	6	3003	c.2972_2972AT>T	c.(2971-2973)atgfs	p.M991fs	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Frame_Shift_Del_p.M878fs|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Frame_Shift_Del_p.M719fs|YSK4_uc002tui.4_Frame_Shift_Del_p.M1008fs	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	991							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTCATTTGCCATTTTTTGGCA	0.368												
STK17B	9262	broad.mit.edu	37	2	197021327	197021328	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:197021326_197021327C>CT	uc002utk.3	-	2	495_496	c.171_172G>AG	c.(169-174)caagaafs	p.Q57fs	STK17B_uc010fsh.3_Frame_Shift_Ins_p.Q57fs	NM_004226	NP_004217	O94768	ST17B_HUMAN	Homo sapiens serine/threonine kinase 17b (STK17B), mRNA.	57	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GCAGCATATTCTTGGCCAGTAG	0.371												
BARD1	580	broad.mit.edu	37	2	215646008	215646008	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:215646007_215646007CT>C	uc002veu.2	-	3	726	c.591_591AG>G	c.(589-591)aagfs	p.K197fs	BARD1_uc021vwe.1_Frame_Shift_Del_p.K178fs|BARD1_uc021vwf.1_Frame_Shift_Del_p.K100fs|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Frame_Shift_Del_p.K53fs|BARD1_uc021vwj.1_Frame_Shift_Del_p.K197fs	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	197					DNA repair|cell cycle arrest|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGCAGAAGCCTTTTTAGCCC	0.378									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome			
RNF25	64320	broad.mit.edu	37	2	219529514	219529515	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:219529513_219529514T>TC	uc002vit.3	-	8	837_838	c.749_750A>GA	c.(748-750)ggafs	p.G250fs	RNF25_uc010fvw.3_Frame_Shift_Ins_p.G138fs	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	250					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	p.I251fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAATGATTCCCCCCCGCTC	0.564												
DNAJB3	414061	broad.mit.edu	37	2	234652188	234652189	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:234652187_234652188A>AC	uc002vuz.3	-	0	474_475	c.375_376T>GT	c.(373-378)gggtcafs	p.G125fs	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	125					protein folding		heat shock protein binding|unfolded protein binding										AGTTCCTCTGACCCCCCCAAAA	0.540												
HDLBP	3069	broad.mit.edu	37	2	242179467	242179467	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr2:242179466_242179466GC>G	uc002waz.3	-	17	2414	c.2241_2241GC>C	c.(2239-2241)ggcfs	p.G747fs	HDLBP_uc002wba.3_Frame_Shift_Del_p.G747fs|HDLBP_uc021vzg.1_Frame_Shift_Del_p.G714fs	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	747	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GAATTTTGCCGCCCCCCTTGC	0.547												
TMEM40	55287	broad.mit.edu	37	3	12777078	12777078	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:12777077_12777077AG>A	uc011auv.1	-	10	874	c.707_707CT>T	c.(706-708)ctcfs	p.L236fs	TMEM40_uc003bxg.1_Frame_Shift_Del_p.L220fs|TMEM40_uc003bxh.1_Frame_Shift_Del_p.L190fs	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	220						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CTTCTGGAAGAGGGGGATGAA	0.458												
SATB1	6304	broad.mit.edu	37	3	18391077	18391077	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:18391076_18391076TG>T	uc003cbh.3	-	10	3613	c.1878_1878CA>A	c.(1876-1878)ccafs	p.P626fs	SATB1_uc003cbi.3_Frame_Shift_Del_p.P658fs|SATB1_uc003cbj.3_Frame_Shift_Del_p.P626fs	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	626					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGGGTTGCCGTGGGGGGAGCC	0.617												
EFHB	151651	broad.mit.edu	37	3	19974992	19974992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:19974991_19974991CT>C	uc003cbl.4	-	0	716	c.520_520AG>G	c.(520-522)gagfs	p.E174fs	EFHB_uc003cbm.3_Intron	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	174					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CAGGTAGACTCTTTTTCCATT	0.488												
LRRC3B	116135	broad.mit.edu	37	3	26751758	26751758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:26751757_26751757TA>T	uc003cdp.3	+	1	1183	c.594_594TA>T	c.(592-594)cctfs	p.P198fs	LRRC3B_uc003cdq.3_Frame_Shift_Del_p.P198fs|LRRC3B_uc021wuj.1_Frame_Shift_Del_p.P198fs	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	198						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GTAACCTCCCTAAAAAAACTA	0.463												
LIMD1	8994	broad.mit.edu	37	3	45637325	45637325	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:45637324_45637324TG>T	uc003coq.3	+	0	1002	c.953_953TG>T	c.(952-954)ctgfs	p.L318fs		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	318					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding	p.G317G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AACTCGGGGCTGGGGGGTGAG	0.602												
LNP1	348801	broad.mit.edu	37	3	100148586	100148587	+	In_Frame_Ins	INS	-	-	GAT			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:100148585_100148586A>AGAT	uc003dtx.4	+	1	1292_1293	c.12_13A>AGAT	c.(10-15)aaagat>aaAGATat	p.4_5KD>KD		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	4										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						TGGAGCACAAAGATGATGATGA	0.510												
IFT122	55764	broad.mit.edu	37	3	129183577	129183578	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:129183576_129183577C>CG	uc003eml.3	+	7	874_875	c.668_669C>CG	c.(667-669)ccgfs	p.P223fs	IFT122_uc003emm.3_Frame_Shift_Ins_p.P172fs|IFT122_uc003emn.3_Frame_Shift_Ins_p.P172fs|IFT122_uc003emo.3_Frame_Shift_Ins_p.P120fs|IFT122_uc003emp.3_Frame_Shift_Ins_p.P22fs|IFT122_uc010htc.3_Frame_Shift_Ins_p.P223fs|IFT122_uc011bky.2_Frame_Shift_Ins_p.P22fs|IFT122_uc011bla.2_Frame_Shift_Ins_p.P22fs|IFT122_uc003emr.3_Frame_Shift_Ins_p.P22fs|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Non-coding_Transcript	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	172					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.P223P(2)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATCGAGCGGCCGGGGGGCTCCC	0.505												
SSR3	6747	broad.mit.edu	37	3	156261014	156261014	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:156261013_156261013GA>G	uc011bop.2	-	4	671	c.576_576TC>C	c.(574-576)ctcfs	p.L192fs	SSR3_uc003fau.3_Frame_Shift_Del_p.L179fs	NM_007107	NP_009038	Q9UNL2	SSRG_HUMAN	Homo sapiens signal sequence receptor, gamma (translocon-associated protein gamma) (SSR3), mRNA.	179					cotranslational protein targeting to membrane	Sec61 translocon complex|integral to endoplasmic reticulum membrane|microsome	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAGTAGACAGGAGGGCGATGA	0.443												
NCEH1	57552	broad.mit.edu	37	3	172365826	172365827	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr3:172365825_172365826C>CT	uc011bpx.2	-	1	451_452	c.313_314G>AG	c.(313-315)agcfs	p.S105fs	NCEH1_uc003fig.3_Frame_Shift_Ins_p.S105fs|NCEH1_uc011bpw.2_5'UTR|NCEH1_uc011bpy.2_Intron	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	73					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGACCACGCGCTTTTTTTGCCA	0.505												
GRK4	2868	broad.mit.edu	37	4	2986251	2986252	+	Frame_Shift_Ins	INS	-	-	A	rs141511339		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:2986250_2986251C>CA	uc003ggn.1	+	1	518_519	c.63_64C>CA	c.(61-66)ggcaaafs	p.G21fs	GRK4_uc003ggo.1_Frame_Shift_Ins_p.G21fs|GRK4_uc003ggp.1_Intron|GRK4_uc003ggq.1_Intron	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	21	N-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGGATATGGCAAAAAAAGTGG	0.381												
CCDC96	257236	broad.mit.edu	37	4	7043563	7043563	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:7043562_7043562CT>C	uc003gjv.2	-	0	1167	c.1104_1104AG>G	c.(1102-1104)aagfs	p.K368fs	LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.	368										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TCTCCTTCTCCTTTTTATCCT	0.607												
SGCB	6443	broad.mit.edu	37	4	52895079	52895080	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:52895078_52895079G>GA	uc003gzj.2	-	3	498_499	c.438_439C>TC	c.(436-441)tttcagfs	p.F146fs	SGCB_uc011bzp.1_Frame_Shift_Ins_p.F76fs	NM_000232	NP_000223	Q16585	SGCB_HUMAN	Homo sapiens sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB), mRNA.	146	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCCCTTGCTGAAAAACAATCT	0.292												
IGFBP7	3490	broad.mit.edu	37	4	57907077	57907077	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:57907076_57907076TG>T	uc003hcn.3	-	1	533	c.499_499CA>A	c.(499-501)aagfs	p.K167fs	IGFBP7_uc011cag.2_Frame_Shift_Del_p.K167fs	NM_001553	NP_001544	Q16270	IBP7_HUMAN	Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	167	Ig-like C2-type.				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGATGTCCTTGGGGGGCGTC	0.507												
EPHA5	2044	broad.mit.edu	37	4	66286255	66286256	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:66286254_66286255C>CT	uc003hcy.3	-	5	1624_1625	c.1431_1432G>AG	c.(1429-1434)aaagggfs	p.K477fs	EPHA5_uc003hcx.3_Frame_Shift_Ins_p.K408fs|EPHA5_uc003hcz.3_Frame_Shift_Ins_p.K477fs|EPHA5_uc011cah.2_Frame_Shift_Ins_p.K477fs|EPHA5_uc011cai.2_Frame_Shift_Ins_p.K477fs|EPHA5_uc003hda.2_Frame_Shift_Ins_p.K477fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	477	Fibronectin type-III 2.				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	p.K476N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GCAATTTTCCCTTTTTTCACAT	0.356										TSP Lung(17;0.13)		
PRDM8	56978	broad.mit.edu	37	4	81121308	81121309	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:81121307_81121308A>AT	uc010ijo.3	+	5	912_913	c.73_74A>AT	c.(73-75)attfs	p.I25fs	PRDM8_uc003hmb.4_Frame_Shift_Ins_p.I25fs|PRDM8_uc003hmc.4_Frame_Shift_Ins_p.I25fs	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	25	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TCTGACAGATATTTTTACCAGC	0.475												
SLC10A6	345274	broad.mit.edu	37	4	87769943	87769943	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:87769942_87769942GC>G	uc003hqd.2	-	0	475	c.327_327GC>C	c.(325-327)ggcfs	p.G109fs		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	109						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TAGAGATGGTGCCCCCCGGGC	0.507												
AFF1	4299	broad.mit.edu	37	4	87967391	87967392	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:87967390_87967391GAA>G	uc011ccz.2	+	2	386_387	c.111_112GAA>G	c.(109-114)gagaaafs	p.E37fs	AFF1_uc011ccx.2_Intron|AFF1_uc003hqh.2_Frame_Shift_Del_p.E37fs|AFF1_uc011ccy.2_Frame_Shift_Del_p.E37fs|AFF1_uc003hqj.4_Frame_Shift_Del_p.E30fs|AFF1_uc003hqk.4_Frame_Shift_Del_p.E30fs|AFF1_uc011cda.2_Intron	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	30						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCACCAAGAGAAAGAGGCATT	0.416												
SETD7	80854	broad.mit.edu	37	4	140432892	140432892	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:140432891_140432891CG>C	uc003ihw.3	-	7	1313	c.1027_1027CG>G	c.(1027-1029)gggfs	p.G343fs		NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 7 (SETD7), mRNA.	343					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding	p.G343V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCACTCTTCCCGGGGGGGCTG	0.612												
MAP9	79884	broad.mit.edu	37	4	156274383	156274384	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr4:156274382_156274383G>GT	uc003ios.3	-	10	1754_1755	c.1490_1491C>AC	c.(1489-1491)aacfs	p.N497fs	MAP9_uc011cin.2_Frame_Shift_Ins_p.N472fs|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Frame_Shift_Ins_p.N496fs	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	497					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTTTCTTCTTGTTTTTTTCTTC	0.342												
SLC12A7	10723	broad.mit.edu	37	5	1074698	1074699	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:1074697_1074698T>TG	uc003jbu.3	-	15	2122_2123	c.2056_2057A>CA	c.(2056-2058)cacfs	p.H686fs		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	686					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTTCTTGGTGTGGGGGGGACCG	0.649												
DNAH5	1767	broad.mit.edu	37	5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:13919382_13919382CT>C	uc003jfd.2	-	6	920	c.878_878AG>G	c.(877-879)agafs	p.R293fs	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	293	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGGAGAGTCTTTTTTTCCA	0.517									Kartagener syndrome			
C5orf42	65250	broad.mit.edu	37	5	37196015	37196015	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:37196014_37196014TA>T	uc011cpa.1	-	20	3988	c.3757_3757TA>A	c.(3757-3759)agafs	p.R1253fs	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Del_p.R328fs|C5orf42_uc011cpb.1_Frame_Shift_Del_p.R134fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1253								p.P1253S(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCTCCAGGTCTAAAAAATGCG	0.378												
IPO11	51194	broad.mit.edu	37	5	61847115	61847115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:61847114_61847114GT>G	uc011cqr.2	+	25	2661	c.2531_2531GT>G	c.(2530-2532)agtfs	p.S844fs	IPO11_uc003jtc.3_Frame_Shift_Del_p.S804fs|IPO11_uc003jtd.1_Non-coding_Transcript	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	804						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CAAAACACTAGTTTTTTTTCT	0.303												
TTC37	9652	broad.mit.edu	37	5	94878927	94878927	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:94878926_94878926CT>C	uc003klb.3	-	4	493	c.196_196AG>G	c.(196-198)gctfs	p.A66fs	TTC37_uc010jbf.2_Intron	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	66							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AATTCAGCAGCTTTTTTATAG	0.353												
ZNF608	57507	broad.mit.edu	37	5	124079984	124079985	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:124079983_124079984G>GC	uc003ktq.1	-	0	882_883	c.699_700C>GC	c.(697-702)gggcacfs	p.G233fs	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_Frame_Shift_Ins_p.G233fs|ZNF608_uc003ktt.1_Frame_Shift_Ins_p.G233fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	233						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)		CCATAGAGGTGCCCCCCGGAAG	0.658												
PCDHGC5	56097	broad.mit.edu	37	5	140784953	140784953	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:140784952_140784952AT>A	uc011dax.2	+	0	2433	c.2433_2433AT>A	c.(2431-2433)tcafs	p.S811fs	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_uc003lki.1_5'Flank|PCDHGC5_uc003lkj.2_5'Flank	NM_032089	NP_114478	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 2, mRNA.	0					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)			CGGTGAGTTCATTTTTTTTCT	0.398												
KIAA0141	9812	broad.mit.edu	37	5	141305061	141305062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:141305060_141305061T>TC	uc003lls.3	+	2	354_355	c.232_233T>TC	c.(232-234)tccfs	p.S78fs	KIAA0141_uc003llt.3_Frame_Shift_Ins_p.S78fs	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	78					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCCGTGTCTCCCCGAACACC	0.545												
FLT4	2324	broad.mit.edu	37	5	180053023	180053024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr5:180053022_180053023T>TG	uc003mlz.4	-	9	1346_1347	c.1267_1268A>CA	c.(1267-1269)cagfs	p.Q423fs	FLT4_uc003mma.4_Frame_Shift_Ins_p.Q423fs|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Frame_Shift_Ins_p.Q423fs	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	423	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.Q423fs*4(3)|p.Q233fs*4(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	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)	CTCATGTATCTGGGGGGGCACT	0.673												
ZNF311	282890	broad.mit.edu	37	6	28964128	28964129	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:28964127_28964128C>CT	uc003nlu.2	-	6	1162_1163	c.651_652G>AG	c.(649-654)aaaggafs	p.K217fs	ZNF311_uc011dlk.1_Frame_Shift_Ins_p.K125fs|ZNF311_uc003nlv.2_Frame_Shift_Ins_p.K125fs	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TGGTTCTTTCCTTTTTTGCAGG	0.366												
C6orf89	221477	broad.mit.edu	37	6	36867371	36867372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:36867370_36867371A>AC	uc003omw.3	+	1	334_335	c.171_172A>AC	c.(169-174)agacccfs	p.R57fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Ins_p.R50fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431												
DNAH8	1769	broad.mit.edu	37	6	38885824	38885825	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:38885823_38885824C>CA	uc021yzh.1	+	69	10540_10541	c.10431_10432C>CA	c.(10429-10434)gccaaafs	p.A3477fs	DNAH8_uc003ooe.2_Frame_Shift_Ins_p.A3260fs|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGAAAGTGCCAAAAAAGTCTG	0.396												
KIF6	221458	broad.mit.edu	37	6	39580993	39580993	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:39580992_39580992TA>T	uc003oot.2	-	5	707	c.612_612TA>A	c.(610-612)ttafs	p.L204fs	KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Frame_Shift_Del_p.L204fs|KIF6_uc010jxb.1_Frame_Shift_Del_p.L204fs	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	204	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGTGTCTCCTAAAAAAAGCA	0.398												
FRS3	10817	broad.mit.edu	37	6	41738509	41738516	+	Frame_Shift_Del	DEL	TGGGGGCT	TGGGGGCT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:41738508_41738515ATGGGGGCT>A	uc003orc.1	-	6	1565_1572	c.1321_1328AGCCCCCAT>T	c.(1321-1329)gcccccatgfs	p.A441fs		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	441					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	p.Q440H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGTGGTGGGCATGGGGGCTTGGGGGCTC	0.649												
FRS3	10817	broad.mit.edu	37	6	41739036	41739036	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:41739035_41739035TG>T	uc003orc.1	-	6	1045	c.801_801CA>A	c.(799-801)ccafs	p.P267fs		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	267					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TATTGTGGTGTGGGGGGTCAT	0.632												
PPP2R5D	5528	broad.mit.edu	37	6	42978440	42978440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:42978439_42978439CA>C	uc003oth.3	+	13	1605	c.1519_1519CA>C	c.(1519-1521)caafs	p.Q507fs	MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Frame_Shift_Del_p.Q401fs|PPP2R5D_uc011dva.2_Frame_Shift_Del_p.Q356fs|PPP2R5D_uc003oti.3_Frame_Shift_Del_p.Q356fs|PPP2R5D_uc021yzq.1_Frame_Shift_Del_p.Q475fs|PPP2R5D_uc003otj.3_Frame_Shift_Del_p.Q338fs	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.	507					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAGATGTGGCAAAAAATCGA	0.547												
MRPL2	51069	broad.mit.edu	37	6	43022057	43022057	+	Frame_Shift_Del	DEL	G	G	-	rs71547829		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:43022056_43022056TG>T	uc003ots.1	-	6	997	c.874_874CA>A	c.(874-876)atgfs	p.M292fs	CUL7_uc003otq.3_5'Flank|CUL7_uc011dvb.2_5'Flank|KLC4_uc003otr.1_Intron	NM_015950	NP_057034	Q5T653	RM02_HUMAN	Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), nuclear gene encoding mitochondrial protein, mRNA.	292					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		TAACTCTTCATGGGGGGTAGT	0.582												
GTPBP2	54676	broad.mit.edu	37	6	43589374	43589376	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:43589373_43589375GCTT>G	uc003ovs.3	-	11	1822_1824	c.1785_1787AAGC>C	c.(1783-1788)gaagcc>gaCc	p.595_596EA>D	GTPBP2_uc010jyv.3_In_Frame_Del_p.507_508EA>D	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	Homo sapiens GTP binding protein 2 (GTPBP2), mRNA.	595							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GTTGGCCTGGGCTTCTCCTGCTG	0.552												
HCRTR2	3062	broad.mit.edu	37	6	55039411	55039412	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:55039410_55039411T>TC	uc003pcl.3	+	0	340_341	c.25_26T>TC	c.(25-27)tccfs	p.S9fs	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564												
ZNF292	23036	broad.mit.edu	37	6	87970974	87970975	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:87970973_87970974T>TA	uc003plm.4	+	7	7667_7668	c.7626_7627T>TA	c.(7624-7629)aataaafs	p.N2542fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCTCACAAAATAAAAAAAGGAA	0.356												
MED23	9439	broad.mit.edu	37	6	131919846	131919847	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:131919845_131919846A>AT	uc003qcs.1	-	18	2450_2451	c.2276_2277T>AT	c.(2275-2277)aatfs	p.N759fs	MED23_uc003qcq.3_Frame_Shift_Ins_p.N765fs|MED23_uc011eca.1_Frame_Shift_Ins_p.N400fs|MED23_uc003qct.1_Frame_Shift_Ins_p.N765fs	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	759					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.N759fs*7(2)|p.N765fs*7(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CCTCCTCCACATTTTTTTTCAG	0.381												
SASH1	23328	broad.mit.edu	37	6	148840851	148840852	+	Frame_Shift_Ins	INS	-	-	G	rs140465347		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:148840850_148840851T>TG	uc003qme.1	+	9	1505_1506	c.1030_1031T>TG	c.(1030-1032)tggfs	p.W344fs	SASH1_uc011eeb.1_Frame_Shift_Ins_p.W105fs	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	344							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCTGGACACCTGGGGGGCTGGC	0.559												
TBP	6908	broad.mit.edu	37	6	170870995	170870996	+	In_Frame_Ins	INS	-	-	GCA			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr6:170870994_170870995G>GGCA	uc003qxu.3	+	2	449_450	c.170_171G>GGCA	c.(169-171)agg>aGGCA	p.R57R	TBP_uc011ehf.2_In_Frame_Ins_p.R37R|TBP_uc003qxt.3_In_Frame_Ins_p.R57R|TBP_uc011ehg.1_In_Frame_Ins_p.R57R	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	57	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		GAGCAACAAAGgcagcagcagc	0.535												
DNAH11	8701	broad.mit.edu	37	7	21631141	21631141	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:21631140_21631140CA>C	uc003svc.3	+	13	2643	c.2612_2612CA>C	c.(2611-2613)acafs	p.T871fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	871	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATTTGTTTACAAAAAAATAC	0.473									Kartagener syndrome			
MPP6	51678	broad.mit.edu	37	7	24705666	24705667	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:24705665_24705666C>CA	uc003swx.3	+	8	1208_1209	c.909_910C>CA	c.(907-912)agcaaafs	p.S303fs	MPP6_uc003swy.3_Frame_Shift_Ins_p.S303fs	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	303					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CTATAAGTAGCAAAAAAAAGAA	0.302												
GLI3	2737	broad.mit.edu	37	7	42005573	42005573	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:42005572_42005572CG>C	uc011kbh.2	-	14	3190	c.3099_3099CG>G	c.(3097-3099)ccgfs	p.P1033fs	GLI3_uc011kbg.2_Frame_Shift_Del_p.P974fs	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1033					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			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGGCCATCGCCGGGGGGTTGC	0.701									Pallister-Hall syndrome;Greig Cephalopolysyndactyly			
RSBN1L	222194	broad.mit.edu	37	7	77408030	77408032	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:77408029_77408031AGAG>A	uc010ldt.1	+	7	2129_2131	c.2085_2087AGAG>A	c.(2083-2088)tcagag>tcAg	p.E697del		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	697						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATATCACTCAGAGGAGGACACT	0.394												
RSBN1L	222194	broad.mit.edu	37	7	77408157	77408158	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:77408156_77408157G>GT	uc010ldt.1	+	7	2256_2257	c.2212_2213G>GT	c.(2212-2214)gttfs	p.V738fs		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	738						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTGGATTCTGTTTTTTCAGAT	0.356												
ABCB4	5244	broad.mit.edu	37	7	87069126	87069127	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:87069125_87069126CCT>C	uc003uiv.1	-	13	1664_1665	c.1588_1589AGG>G	c.(1588-1590)gggfs	p.G530fs	ABCB4_uc003uiw.1_Frame_Shift_Del_p.G530fs|ABCB4_uc003uix.1_Frame_Shift_Del_p.G530fs	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	530	ABC transporter 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CAGCTGGGCCCCTCTCTCTCCA	0.485												
GIGYF1	64599	broad.mit.edu	37	7	100285170	100285171	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:100285169_100285170A>AG	uc003uwg.1	-	3	1340_1341	c.331_332T>CT	c.(331-333)ctgfs	p.L111fs		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	111								p.L111fs*234(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGTGCCAGCCAGGGGGGGGCCA	0.673												
PLOD3	8985	broad.mit.edu	37	7	100855927	100855928	+	Frame_Shift_Ins	INS	-	-	G	rs138002558	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:100855926_100855927C>CG	uc003uyd.3	-	8	1345_1346	c.889_890G>CG	c.(889-891)cggfs	p.R297fs		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	297					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R297fs*61(4)|p.P296L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CAGAAACACCCGGGGGGGAGGC	0.639												
C7orf58	79974	broad.mit.edu	37	7	120740093	120740094	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:120740092_120740093A>AT	uc003vjq.4	+	6	1309_1310	c.862_863A>AT	c.(862-864)attfs	p.I288fs	C7orf58_uc003vjr.1_Frame_Shift_Ins_p.I288fs|C7orf58_uc003vjs.4_Frame_Shift_Ins_p.I288fs|C7orf58_uc003vjt.4_Frame_Shift_Ins_p.I68fs|C7orf58_uc010lkk.2_Frame_Shift_Ins_p.I68fs	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	288						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					GCGTGCATTCATTCATTCGACG	0.436												
IQUB	154865	broad.mit.edu	37	7	123104914	123104915	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:123104913_123104914T>TA	uc003vkn.3	-	9	2308_2309	c.1731_1732A>TA	c.(1729-1734)tttaatfs	p.F577fs	IQUB_uc003vko.3_Frame_Shift_Ins_p.F577fs|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Frame_Shift_Ins_p.F577fs	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	577										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ACTTCAGGATTAAACAGAGGTG	0.317												
MEST	4232	broad.mit.edu	37	7	130143794	130143795	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:130143793_130143794A>AT	uc003vqg.3	+	10	1102_1103	c.846_847A>AT	c.(844-849)ccattgfs	p.P282fs	MEST_uc003vqc.3_Frame_Shift_Ins_p.P273fs|MEST_uc003vqd.3_Frame_Shift_Ins_p.P239fs|MEST_uc022alp.1_Frame_Shift_Ins_p.P239fs|MEST_uc003vqf.3_Frame_Shift_Ins_p.P273fs|MEST_uc011kph.2_Frame_Shift_Ins_p.P268fs	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	282					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TCTATGGGCCATTGGATCCTGT	0.406												
EZH2	2146	broad.mit.edu	37	7	148506210	148506210	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:148506209_148506209CA>C	uc003wfd.2	-	18	2327	c.2134_2134TG>G	c.(2134-2136)gccfs	p.A712fs	EZH2_uc022aov.1_Frame_Shift_Del_p.A631fs|EZH2_uc011kug.2_Frame_Shift_Del_p.A661fs|EZH2_uc003wfb.2_Frame_Shift_Del_p.A717fs|EZH2_uc003wfc.2_Frame_Shift_Del_p.A673fs|EZH2_uc011kuh.2_Frame_Shift_Del_p.A703fs	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	712	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R712R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GCTCTCTTGGCAAAAATACCT	0.448			Mis		DLBCL							
FASTK	10922	broad.mit.edu	37	7	150774416	150774417	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr7:150774415_150774416GCA>G	uc003wix.1	-	6	1370_1371	c.1272_1273TGC>C	c.(1270-1275)gtgcctfs	p.V424fs	AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Frame_Shift_Del_p.V185fs|FASTK_uc003wiy.1_Frame_Shift_Del_p.V283fs|FASTK_uc003wiz.1_Frame_Shift_Del_p.V397fs|FASTK_uc003wja.1_3'UTR	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.	424			V -> L (in a lung adenocarcinoma sample; somatic mutation).		apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	p.V424L(2)		lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		TAGCCTGGAGGCACAGTCAGGT	0.649												
ZNF596	169270	broad.mit.edu	37	8	195440	195441	+	Frame_Shift_Ins	INS	-	-	GT	rs141776606		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:195439_195440C>CGT	uc003wot.3	+	5	880_881	c.592_593C>CGT	c.(592-594)cgtfs	p.R198fs	ZNF596_uc003wou.3_Frame_Shift_Ins_p.R97fs|ZNF596_uc003wov.3_Frame_Shift_Ins_p.R198fs|ZNF596_uc003wow.3_Frame_Shift_Ins_p.R198fs	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA.	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		ATTGGAATGTCGTGTGTGTGGG	0.406												
PROSC	11212	broad.mit.edu	37	8	37623853	37623853	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:37623852_37623852CA>C	uc003xkh.3	+	3	375	c.298_298CA>C	c.(298-300)caafs	p.Q100fs		NM_007198	NP_009129	O94903	PROSC_HUMAN	Homo sapiens proline synthetase co-transcribed homolog (bacterial) (PROSC), mRNA.	100							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	CCTACAGAAACAAAATGTCAA	0.358												
HGSNAT	138050	broad.mit.edu	37	8	43054587	43054588	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:43054586_43054587C>CA	uc003xpx.4	+	17	1830_1831	c.1782_1783C>CA	c.(1780-1785)ccctttfs	p.P594fs		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	622					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ACTACTTCCCCTTTCAGTGGAA	0.485												
SLC26A7	115111	broad.mit.edu	37	8	92378867	92378868	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:92378866_92378867C>CA	uc003yez.3	+	13	1786_1787	c.1547_1548C>CA	c.(1546-1548)gcafs	p.A516fs	SLC26A7_uc003yex.3_Frame_Shift_Ins_p.A516fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Ins_p.A516fs	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	516	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTCCTGAATGCAAAAAAATTTT	0.347												
TRPS1	7227	broad.mit.edu	37	8	116631682	116631683	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:116631681_116631682G>GT	uc003yny.3	-	2	1221_1222	c.643_644C>AC	c.(643-645)actfs	p.T215fs	TRPS1_uc011lhy.2_Frame_Shift_Ins_p.T206fs|TRPS1_uc003ynz.3_Frame_Shift_Ins_p.T202fs|TRPS1_uc010mcy.3_Frame_Shift_Ins_p.T202fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	202					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|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			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	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)			CAGTAAGTCAGTTTTGGATTTA	0.470									Langer-Giedion syndrome			
ZNF7	7553	broad.mit.edu	37	8	146067178	146067179	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr8:146067177_146067178C>CA	uc010mge.3	+	4	855_856	c.718_719C>CA	c.(718-720)caafs	p.Q240fs	ZNF7_uc003zeg.4_Frame_Shift_Ins_p.Q229fs|ZNF7_uc011lln.2_Frame_Shift_Ins_p.Q133fs|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Frame_Shift_Ins_p.Q133fs|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	229					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TCAAGAATGCCAAAAAAAGTTA	0.455												
TLN1	7094	broad.mit.edu	37	9	35720500	35720500	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:35720499_35720499CT>C	uc003zxt.2	-	11	1568	c.1214_1214AG>G	c.(1213-1215)agcfs	p.S405fs		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	405	Interaction with LAYN (By similarity).				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	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTGATCCTTGCTTTTTTTCTG	0.463												
NOL8	55035	broad.mit.edu	37	9	95076597	95076598	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:95076596_95076597C>CT	uc022bjx.1	-	6	2647_2648	c.2310_2311G>AG	c.(2308-2313)aaagcafs	p.K770fs	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Frame_Shift_Ins_p.K702fs	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	770					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ACTTCTTTTGCTTTTTGCCTCG	0.386												
ZNF462	58499	broad.mit.edu	37	9	109686948	109686948	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:109686947_109686947AC>A	uc004bcz.3	+	2	1043	c.754_754AC>A	c.(754-756)accfs	p.T252fs	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Frame_Shift_Del_p.T100fs|ZNF462_uc004bda.3_Frame_Shift_Del_p.T100fs	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	252					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGCTACCAGACCCCCCGCCG	0.507												
RABGAP1	23637	broad.mit.edu	37	9	125861042	125861042	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr9:125861041_125861041TA>T	uc011lzh.2	+	22	2915	c.2781_2781TA>T	c.(2779-2781)attfs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AATCTGAGATTAAAAAAAACA	0.398												
FRMD4A	55691	broad.mit.edu	37	10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGG	0.532												
KIAA1217	56243	broad.mit.edu	37	10	24762280	24762281	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:24762279_24762280G>GC	uc001iru.4	+	5	1372_1373	c.969_970G>GC	c.(967-972)atgcccfs	p.M323fs	KIAA1217_uc001irs.3_Frame_Shift_Ins_p.M243fs|KIAA1217_uc001irt.4_Frame_Shift_Ins_p.M323fs|KIAA1217_uc010qcy.2_Frame_Shift_Ins_p.M323fs|KIAA1217_uc010qcz.2_Frame_Shift_Ins_p.M323fs|KIAA1217_uc001irv.1_Frame_Shift_Ins_p.M173fs|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Frame_Shift_Ins_p.M41fs|KIAA1217_uc001irz.3_Frame_Shift_Ins_p.M41fs|KIAA1217_uc001irx.3_Frame_Shift_Ins_p.M41fs|KIAA1217_uc001iry.3_Frame_Shift_Ins_p.M41fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	323	Pro-rich.				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						CCCATTCCATGCCCCCCTCCCC	0.619												
MYO3A	53904	broad.mit.edu	37	10	26463099	26463103	+	Frame_Shift_Del	DEL	AAAAG	AAAAG	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:26463098_26463102AAAAAG>A	uc001isn.2	+	29	4265_4269	c.3905_3909AAAAAG>A	c.(3904-3909)gaaaaafs	p.E1302fs	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1302					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						AACAGCATGGAAAAAGAAAAGAAGA	0.444												
FAM21C	253725	broad.mit.edu	37	10	46254807	46254808	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:46254806_46254807CAA>C	uc001jcu.3	+	16	1710_1711	c.1592_1593CAA>C	c.(1591-1593)acafs	p.T531fs	FAM21C_uc001jcs.2_Frame_Shift_Del_p.T476fs|FAM21C_uc010qfk.2_Frame_Shift_Del_p.T531fs|FAM21C_uc010qfi.2_Frame_Shift_Del_p.T507fs|FAM21C_uc010qfj.2_Intron	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	531										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TCATCAGAAACAAAGACTCAAA	0.396												
SEC24C	9632	broad.mit.edu	37	10	75525560	75525560	+	Splice_Site	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:75525559_75525559TC>T	uc001juw.3	+	11	1547	c.1367_splice	c.e11-1	p.V456_splice	SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_Splice_Site_p.V314_splice|SEC24C_uc001jux.3_Splice_Site_p.V456_splice|SEC24C_uc010qko.2_Splice_Site_p.V337_splice|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGT	0.512												
ZNF518A	9849	broad.mit.edu	37	10	97919833	97919833	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:97919832_97919832CA>C	uc001klp.3	+	5	4610	c.3753_3753CA>C	c.(3751-3753)tccfs	p.S1251fs	ZNF518A_uc001klo.1_Frame_Shift_Del_p.S721fs|ZNF518A_uc001klq.3_Frame_Shift_Del_p.S1251fs|ZNF518A_uc001klr.3_Frame_Shift_Del_p.S1251fs	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	1251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I1254fs*11(2)|p.T1250A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAAAGACTTCCAAAAAAATTT	0.338												
SLIT1	6585	broad.mit.edu	37	10	98761090	98761090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:98761089_98761089TC>T	uc001kmw.2	-	36	4637	c.4385_4385GA>A	c.(4384-4386)gacfs	p.D1462fs		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1462	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCGGACAGGGTCCCCCCGGCA	0.667												
MTG1	92170	broad.mit.edu	37	10	135233645	135233645	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:135233644_135233644AC>A	uc001lnd.3	+	10	1084	c.980_980AC>A	c.(979-981)cacfs	p.H327fs	MTG1_uc010qve.2_Frame_Shift_Del_p.H192fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	327						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)		CTGCGGGGCCACCCCCCGGCT	0.642												
CYP2E1	1571	broad.mit.edu	37	10	135346255	135346255	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr10:135346254_135346254TA>T	uc001lnj.1	+	4	740	c.707_707TA>T	c.(706-708)atafs	p.I236fs	CYP2E1_uc001lnk.1_Frame_Shift_Del_p.I99fs|CYP2E1_uc009ybl.1_Frame_Shift_Del_p.I37fs|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_Frame_Shift_Del_p.I37fs	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	236					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|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|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		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;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	AGAAAAGTCATAAAAAATGTG	0.433									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of			
TH	7054	broad.mit.edu	37	11	2193005	2193005	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:2193004_2193004CG>C	uc001lvq.3	-	0	32	c.13_13CG>G	c.(13-15)gacfs	p.D5fs	TH_uc001lvp.3_Frame_Shift_Del_p.D5fs|TH_uc001lvr.3_Frame_Shift_Del_p.D5fs|TH_uc010qxj.2_Frame_Shift_Del_p.D5fs|TH_uc001lvs.3_Frame_Shift_Del_p.D5fs|TH_uc001lvt.3_Frame_Shift_Del_p.D5fs|MIR4686_uc021qce.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	5					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	p.D5D(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GTGGTGGCGTCGGGGGTGGGC	0.667												
CTR9	9646	broad.mit.edu	37	11	10785262	10785263	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:10785261_10785262A>AT	uc001mja.3	+	8	1178_1179	c.1029_1030A>AT	c.(1027-1032)ccatttfs	p.P343fs		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	343					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTGTGCTCCCATTTTTTGGTTT	0.342												
ARNTL	406	broad.mit.edu	37	11	13393941	13393942	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:13393940_13393941G>GT	uc001mkr.3	+	12	1459_1460	c.1051_1052G>GT	c.(1051-1053)gttfs	p.V351fs	ARNTL_uc001mko.3_Frame_Shift_Ins_p.V307fs|ARNTL_uc001mkp.3_Frame_Shift_Ins_p.V350fs|ARNTL_uc001mkq.3_Frame_Shift_Ins_p.V350fs|ARNTL_uc001mks.3_Frame_Shift_Ins_p.V308fs|ARNTL_uc001mkt.3_Frame_Shift_Ins_p.V351fs|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkv.1_Frame_Shift_Ins_p.V308fs|ARNTL_uc001mkw.3_Frame_Shift_Ins_p.V308fs|ARNTL_uc001mkx.3_Frame_Shift_Ins_p.V349fs	NM_001178	NP_001169	O00327	BMAL1_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA.	351	PAS 2.				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGGAAAGTTTGTTTTTGTAGAC	0.441												
NAV2	89797	broad.mit.edu	37	11	19955426	19955426	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:19955425_19955425AG>A	uc010rdm.2	+	7	2065	c.1704_1704AG>A	c.(1702-1704)aaafs	p.K568fs	NAV2_uc001mpp.3_Frame_Shift_Del_p.K481fs|NAV2_uc001mpr.4_Frame_Shift_Del_p.K545fs|NAV2_uc021qew.1_Frame_Shift_Del_p.K545fs	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	568						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCATCCCCAAAGGGGGGAAGC	0.552												
KCNA4	3739	broad.mit.edu	37	11	30033253	30033253	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:30033252_30033252CA>C	uc021qfi.1	-	0	974	c.974_974TG>G	c.(973-975)tgcfs	p.C325fs	KCNA4_uc001msk.3_Frame_Shift_Del_p.C325fs	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	325						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GGTTTCCAGGCAAAAGATGAC	0.512												
OR4S1	256148	broad.mit.edu	37	11	48327888	48327889	+	Frame_Shift_Ins	INS	-	-	G	rs141535342		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:48327887_48327888T>TG	uc010rhu.2	+	0	113_114	c.113_114T>TG	c.(112-114)ctgfs	p.L38fs		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTCACTGTCCTGGGGAACCTTC	0.426												
CCDC87	55231	broad.mit.edu	37	11	66359046	66359047	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:66359045_66359046A>AT	uc001oiq.4	-	0	1509_1510	c.1441_1442T>AT	c.(1441-1443)atgfs	p.M481fs	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	481										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ATCAATATCCATTTTTTCAATG	0.460												
MYO7A	4647	broad.mit.edu	37	11	76873961	76873962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:76873960_76873961T>TC	uc001oyb.2	+	13	1888_1889	c.1616_1617T>TC	c.(1615-1617)atcfs	p.I539fs	MYO7A_uc010rsl.2_Frame_Shift_Ins_p.I539fs|MYO7A_uc010rsm.1_Frame_Shift_Ins_p.I528fs|MYO7A_uc001oyc.2_Frame_Shift_Ins_p.I539fs	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	539	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564												
ODZ4	26011	broad.mit.edu	37	11	78369243	78369244	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:78369242_78369243T>TC	uc001ozl.4	-	33	8633_8634	c.8170_8171A>GA	c.(8170-8172)gagfs	p.E2724fs	ODZ4_uc001ozk.4_Frame_Shift_Ins_p.E949fs	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2724					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CTGCTGCTTCTCCCCCTCTGTC	0.658												
ODZ4	26011	broad.mit.edu	37	11	78423591	78423591	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:78423590_78423590AG>A	uc001ozl.4	-	25	4454	c.3991_3991CT>T	c.(3991-3993)tttfs	p.F1331fs		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1331					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTGTCATCAAAGGGGAGGCAC	0.542												
BCL9L	283149	broad.mit.edu	37	11	118770652	118770653	+	Frame_Shift_Ins	INS	-	-	G	rs139987150		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr11:118770651_118770652T>TG	uc001pug.3	-	6	4345_4346	c.3380_3381A>CA	c.(3379-3381)ccafs	p.P1127fs	BCL9L_uc009zal.3_Frame_Shift_Ins_p.P1122fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1127	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			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	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)		GCGGTGGTGGTGGGGGGGGCAG	0.703												
WNT1	7471	broad.mit.edu	37	12	49374348	49374348	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:49374347_49374347TG>T	uc001rsu.3	+	2	697	c.499_499TG>T	c.(499-501)tggfs	p.W167fs		NM_005430	NP_005421	P04628	WNT1_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.	167					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of DNA damage checkpoint|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of Notch signaling pathway|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		cgACTGGCACTGGGGGGGCTG	0.687												
DIP2B	57609	broad.mit.edu	37	12	51068343	51068343	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:51068342_51068342GC>G	uc001rwv.3	+	5	882	c.726_726GC>G	c.(724-726)ctgfs	p.L242fs	DIP2B_uc001rwu.3_Frame_Shift_Del_p.L242fs|DIP2B_uc009zls.2_Frame_Shift_Del_p.L124fs	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	242						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ACATTGACCTGCCCCCCTCGG	0.473												
LRIG3	121227	broad.mit.edu	37	12	59279645	59279645	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:59279644_59279644CT>C	uc001sqr.3	-	9	1459	c.1213_1213AG>G	c.(1213-1215)gccfs	p.A405fs	LRIG3_uc009zqh.3_Frame_Shift_Del_p.A345fs|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	405						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCAGTGAAGGCTTTTTTAGTA	0.368			T	ROS1	NSCLC							
PTPRR	5801	broad.mit.edu	37	12	71050530	71050532	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:71050529_71050531CCTT>C	uc001swi.2	-	12	2247_2249	c.1833_1835AAGG>G	c.(1831-1836)gaagga>gaGa	p.G612del	PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_In_Frame_Del_p.G367del|PTPRR_uc009zrs.3_In_Frame_Del_p.G406del|PTPRR_uc010stq.2_In_Frame_Del_p.G500del	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	612	Tyrosine-protein phosphatase.				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)		ATCCACAACTCCTTCTTCTTTCA	0.429												
GLIPR1L2	144321	broad.mit.edu	37	12	75804255	75804256	+	Frame_Shift_Del	DEL	AA	AA	-	rs144818804	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:75804254_75804255GAA>G	uc001sxr.1	+	1	283_284	c.275_276GAA>G	c.(274-276)ggafs	p.G92fs	GLIPR1L2_uc001sxp.1_Frame_Shift_Del_p.G92fs|GLIPR1L2_uc001sxq.1_5'UTR	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 2 (GLIPR1L2), mRNA.	92						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						AGAGCATGGGGAAAAAAATGTT	0.317												
ELK3	2004	broad.mit.edu	37	12	96641029	96641030	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:96641028_96641029G>GC	uc001teo.1	+	2	797_798	c.518_519G>GC	c.(517-519)agcfs	p.S173fs		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	173					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.V176fs*14(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCCGAAGACAGCCCCCCCGTGG	0.579												
ATXN2	6311	broad.mit.edu	37	12	111990087	111990087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:111990086_111990086CT>C	uc001tsj.3	-	4	1211	c.1049_1049AG>G	c.(1048-1050)agafs	p.R350fs	ATXN2_uc001tsh.3_Frame_Shift_Del_p.R85fs|ATXN2_uc001tsi.3_Frame_Shift_Del_p.R61fs|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Frame_Shift_Del_p.R85fs	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	350					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AAACCCACCTCTTTTTGCATA	0.328												
RPL6	6128	broad.mit.edu	37	12	112846122	112846124	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:112846121_112846123TCTC>T	uc001ttu.3	-	2	486_488	c.257_259GAGA>A	c.(256-261)gagaag>gAag	p.K87del	RPL6_uc001ttv.3_In_Frame_Del_p.K87del|RPL6_uc009zwd.1_3'UTR	NM_001024662	NP_001019833	Q02878	RL6_HUMAN	Homo sapiens ribosomal protein L6 (RPL6), transcript variant 1, mRNA.	87					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						GCGAGAACCTTCTCCTTCTTTTT	0.433												
TMEM132D	121256	broad.mit.edu	37	12	130184622	130184623	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr12:130184621_130184622A>AC	uc009zyl.1	-	1	1029_1030	c.701_702T>GT	c.(700-702)ggtfs	p.G234fs		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	234						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)		CCCCTCTCTCACCCCCTGGGTG	0.663												
DIS3	22894	broad.mit.edu	37	13	73346884	73346884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:73346883_73346883GA>G	uc001vix.4	-	8	1708	c.1334_1334TC>C	c.(1333-1335)tcafs	p.S445fs	DIS3_uc001viy.4_Frame_Shift_Del_p.S415fs|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	445					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AACAGCCTGTGAAAAAGGCTG	0.373										Multiple Myeloma(4;0.011)		
DZIP1	22873	broad.mit.edu	37	13	96294002	96294002	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr13:96294001_96294001TG>T	uc001vmk.3	-	4	997	c.145_145CA>A	c.(145-147)agcfs	p.S49fs	DZIP1_uc001vml.3_Frame_Shift_Del_p.S49fs	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	49					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)			GAAGCCGCGCTGGGGGGCGCA	0.741												
OR4K5	79317	broad.mit.edu	37	14	20389294	20389294	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	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												
OR4K5	79317	broad.mit.edu	37	14	20389595	20389595	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:20389594_20389594GT>G	uc010tkw.2	+	0	829	c.829_829GT>G	c.(829-831)gttfs	p.V277fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	277					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)		ATTTTACACTGTTTTCACCCC	0.398												
KCNK13	56659	broad.mit.edu	37	14	90651285	90651285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:90651284_90651284AG>A	uc001xye.1	+	1	1606	c.1164_1164AG>A	c.(1162-1164)tcafs	p.S388fs		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	388						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ATGAATTCTCAGGGGGGGTGG	0.592												
TNFAIP2	7127	broad.mit.edu	37	14	103596141	103596141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr14:103596140_103596140GC>G	uc001ymm.1	+	2	1055	c.924_924GC>G	c.(922-924)ctgfs	p.L308fs	TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_Intron|TNFAIP2_uc010tya.1_5'Flank	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	308					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			GGAGCCTCCTGCCCCCCAGGC	0.647												
TBC1D21	161514	broad.mit.edu	37	15	74177419	74177420	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr15:74177418_74177419C>CT	uc002avz.3	+	5	636_637	c.553_554C>CT	c.(553-555)cttfs	p.L185fs	TBC1D21_uc010ulc.2_Frame_Shift_Ins_p.L149fs	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	185	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.L185F(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						GACCTTCTGGCTTTTCCAGTTC	0.584												
SOLH	6650	broad.mit.edu	37	16	597592	597593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:597591_597592T>TC	uc002chi.3	+	3	1116_1117	c.753_754T>TC	c.(751-756)gttcccfs	p.V251fs	SOLH_uc002chh.1_Frame_Shift_Ins_p.V251fs	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	251					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				GACGCGAGGTTCCCCCCCAGCT	0.752												
HS3ST6	64711	broad.mit.edu	37	16	1962127	1962127	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:1962126_1962126CG>C	uc002cnf.3	-	1	401	c.401_401CG>G	c.(400-402)cgcfs	p.R134fs	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	134								p.R134S(1)		endometrium(2)|lung(2)	4						GTGGATGCGGCGGGGGGCCTC	0.662												
TXNDC11	51061	broad.mit.edu	37	16	11773134	11773134	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:11773133_11773133TG>T	uc010buu.1	-	12	2938	c.2876_2876CA>A	c.(2875-2877)cagfs	p.Q959fs	TXNDC11_uc002dbg.1_Frame_Shift_Del_p.Q932fs	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	959					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCCAGGGAGCTGGGGGGTGGC	0.577												
ERI2	112479	broad.mit.edu	37	16	20811677	20811679	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:20811676_20811678AGCT>A	uc010vbb.1	-	5	550_552	c.507_509AGCT>T	c.(505-510)cagctg>caTg	p.169_170QL>H	ERI2_uc002dht.3_In_Frame_Del_p.76_77QL>H|ERI2_uc002dhs.3_In_Frame_Del_p.169_170QL>H|ERI2_uc010bwh.2_In_Frame_Del_p.76_77QL>H|ERI2_uc010vbc.1_Intron|ERI2_uc002dhu.1_In_Frame_Del_p.169_170QL>H	NM_001142725	NP_001136197	A8K979	ERI2_HUMAN	Homo sapiens ERI1 exoribonuclease family member 2 (ERI2), transcript variant 1, mRNA.	169	Exonuclease.					intracellular	exonuclease activity|nucleic acid binding|zinc ion binding	p.K168R(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						AGGTTTTAACAGCTGCTTTCTTT	0.360												
EEF2K	29904	broad.mit.edu	37	16	22262606	22262606	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	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												
ATP2A1	487	broad.mit.edu	37	16	28913640	28913641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:28913639_28913640G>GC	uc002dro.1	+	16	2640_2641	c.2456_2457G>GC	c.(2455-2457)cgcfs	p.R819fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Ins_p.R819fs|ATP2A1_uc002drp.1_Frame_Shift_Ins_p.R694fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	819					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATCATGGACCGCCCCCCCCGGA	0.658												
C16orf70	80262	broad.mit.edu	37	16	67180989	67180990	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:67180988_67180989G>GC	uc002erd.3	+	15	1387_1388	c.1223_1224G>GC	c.(1222-1224)ggcfs	p.G408fs	C16orf70_uc002erc.3_Frame_Shift_Ins_p.G408fs|BC007896_uc002erg.1_5'Flank	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594												
ZNF23	7571	broad.mit.edu	37	16	71483562	71483562	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:71483561_71483561TA>T	uc002faf.3	-	5	1181	c.367_367TA>A	c.(367-369)agtfs	p.S123fs	ZNF23_uc002fah.3_Frame_Shift_Del_p.S123fs|ZNF23_uc002fad.3_Frame_Shift_Del_p.S65fs|ZNF23_uc010vmf.2_Frame_Shift_Del_p.S65fs|ZNF23_uc002fag.3_Frame_Shift_Del_p.S65fs|ZNF23_uc002fai.3_Frame_Shift_Del_p.S162fs	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GAACTTTGACTAAAAAAACAC	0.443												
ZC3H18	124245	broad.mit.edu	37	16	88694459	88694459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr16:88694458_88694458AC>A	uc010voz.2	+	15	2672	c.2472_2472AC>A	c.(2470-2472)gcafs	p.A824fs	ZC3H18_uc002fky.3_Frame_Shift_Del_p.A800fs|ZC3H18_uc010chw.3_Intron|ZC3H18_uc002fkz.3_Frame_Shift_Del_p.A70fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	800						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCAGCAGGCACCCCCCGGGC	0.607												
SCARF1	8578	broad.mit.edu	37	17	1538678	1538678	+	Frame_Shift_Del	DEL	C	C	-	rs34681910		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:1538677_1538677GC>G	uc002fsz.1	-	10	1918	c.1868_1868GC>C	c.(1867-1869)gcgfs	p.A623fs	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Frame_Shift_Del_p.A537fs	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	623	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCCGACTGCGCCCCCCGGGA	0.667												
KRTAP9-2	83899	broad.mit.edu	37	17	39383272	39383272	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:39383271_39383271AC>A	uc002hwf.3	+	0	372	c.365_365AC>A	c.(364-366)tacfs	p.Y122fs		NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	Homo sapiens keratin associated protein 9-2 (KRTAP9-2), mRNA.	122	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCTGCTACTACCCCACGACT	0.627												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	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												
CUEDC1	404093	broad.mit.edu	37	17	55962594	55962594	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:55962593_55962593CG>C	uc002ivd.1	-	1	1052	c.333_333CG>G	c.(331-333)ccgfs	p.P111fs	CUEDC1_uc002ive.1_Frame_Shift_Del_p.P111fs	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	111	Pro-rich.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CCCCTACCTCCGGGGGGATGC	0.662												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
UNK	85451	broad.mit.edu	37	17	73814802	73814802	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:73814801_73814801AC>A	uc002jpm.3	+	11	1678	c.1678_1678AC>A	c.(1678-1680)accfs	p.T560fs	UNK_uc021udd.1_Frame_Shift_Del_p.T484fs	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	484							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			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)			CCTGGCAGCTACCCCCCCTAG	0.612												
CARD14	79092	broad.mit.edu	37	17	78172264	78172264	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr17:78172263_78172263AG>A	uc002jxw.1	+	12	1918	c.1724_1724AG>A	c.(1723-1725)cagfs	p.Q575fs	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Frame_Shift_Del_p.Q575fs|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Frame_Shift_Del_p.Q338fs	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	575	PDZ.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGCGTTCCAGGGGGATGCA	0.692												
SMAD7	4092	broad.mit.edu	37	18	46474795	46474796	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:46474794_46474795A>AG	uc002ldg.3	-	1	913_914	c.626_627T>CT	c.(625-627)cctfs	p.P209fs	SMAD7_uc010xde.2_5'UTR|SMAD7_uc021ujr.1_Frame_Shift_Ins_p.P209fs	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	209	Important for interaction with SMURF2.|Poly-Pro.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TGGAGTAAGGAGGGGGGGGAGA	0.386												
TNFRSF11A	8792	broad.mit.edu	37	18	60036290	60036290	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr18:60036289_60036289TG>T	uc002lin.3	+	8	1177	c.1139_1139TG>T	c.(1138-1140)gtgfs	p.V380fs	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	380					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCCCTGGAGGTGGGGGAGAAT	0.552												
REXO1	57455	broad.mit.edu	37	19	1819035	1819035	+	Frame_Shift_Del	DEL	G	G	-	rs142515155	byFrequency	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:1819034_1819034CG>C	uc002lua.4	-	7	2842	c.2747_2747CG>G	c.(2746-2748)cggfs	p.R916fs	REXO1_uc010dsq.3_Frame_Shift_Del_p.R225fs|REXO1_uc010xgs.1_5'UTR|REXO1_uc021umm.1_5'Flank|REXO1_uc010dsp.1_Non-coding_Transcript	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	916						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCTCCACCCGGGGGCTGCT	0.677												
GIPC3	126326	broad.mit.edu	37	19	3589527	3589527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:3589526_3589526TG>T	uc002lyd.4	+	3	705	c.678_678TG>T	c.(676-678)tctfs	p.S226fs		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	226								p.S226F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTTCGTTCTGGGGGGGCTG	0.612												
DUS3L	56931	broad.mit.edu	37	19	5788376	5788376	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:5788375_5788375AG>A	uc002mdc.3	-	3	1032	c.935_935CT>T	c.(934-936)ctcfs	p.L312fs	DUS3L_uc002mdd.3_Frame_Shift_Del_p.L70fs|DUS3L_uc010xiw.1_Non-coding_Transcript	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	312					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TACCGTGGTGAGGGGGGCCAG	0.602												
TRIP10	9322	broad.mit.edu	37	19	6741246	6741246	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:6741245_6741245GA>G	uc002mfs.3	+	2	216	c.150_150GA>G	c.(148-150)gtgfs	p.V50fs	TRIP10_uc010dux.2_Frame_Shift_Del_p.V50fs|TRIP10_uc002mfr.3_Frame_Shift_Del_p.V50fs|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	50	FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GGAGCCTGGTGAAAAAATATC	0.622												
ZNF799	90576	broad.mit.edu	37	19	12501372	12501372	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:12501371_12501371GT>G	uc010dyt.3	-	3	2045	c.1841_1841AC>C	c.(1840-1842)actfs	p.T614fs	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TCCAGTGTGAGTTTTTTTCCA	0.413												
OR7C1	26664	broad.mit.edu	37	19	14910414	14910414	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:14910413_14910413CA>C	uc010xnz.2	-	0	536	c.536_536TG>G	c.(535-537)tgtfs	p.C179fs		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	179					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.C179fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAGTAGATCACAAAAAAAGTG	0.478												
ELL	8178	broad.mit.edu	37	19	18561309	18561309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:18561308_18561308CG>C	uc002njh.3	-	7	1516	c.1444_1444CG>G	c.(1444-1446)ggafs	p.G482fs	ELL_uc010ebq.3_Frame_Shift_Del_p.G425fs|ELL_uc002njg.3_Frame_Shift_Del_p.G349fs	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	482					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GCTGGGGCTCCGGGGGTGGCA	0.657			T	MLL	AL							
UPF1	5976	broad.mit.edu	37	19	18967091	18967092	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:18967090_18967091CAG>C	uc002nkg.3	+	12	2113_2114	c.1838_1839CAG>C	c.(1837-1839)gcafs	p.A613fs	UPF1_uc002nkf.3_Frame_Shift_Del_p.A602fs	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	613					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AAGCGCACCGCAGAGAGAGAGC	0.594												
SLC7A10	56301	broad.mit.edu	37	19	33703794	33703794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:33703793_33703793TG>T	uc002num.2	-	2	619	c.472_472CA>A	c.(472-474)accfs	p.T158fs	SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.2_Frame_Shift_Del_p.T131fs	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	158					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAGGCTGTGGTGGGGGGGATG	0.637												
MLL2	8085	broad.mit.edu	37	19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C	rs60207923	by1000genomes	TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
DYRK1B	9149	broad.mit.edu	37	19	40316612	40316612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:40316611_40316611TG>T	uc002omj.3	-	10	1914	c.1634_1634CA>A	c.(1633-1635)cagfs	p.Q545fs	DYRK1B_uc002omi.3_Frame_Shift_Del_p.Q517fs|DYRK1B_uc002omk.3_Frame_Shift_Del_p.Q505fs	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	545					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GTATCGGGGCTGGGGGGGTAA	0.687												
AKT2	208	broad.mit.edu	37	19	40762855	40762855	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:40762854_40762854AG>A	uc002onf.3	-	2	453	c.154_154CT>T	c.(154-156)ttafs	p.L52fs	AKT2_uc010egs.3_Frame_Shift_Del_p.L52fs|AKT2_uc010xvj.2_5'UTR|AKT2_uc010egt.3_5'UTR|AKT2_uc010egu.2_5'UTR|AKT2_uc010xvk.1_Frame_Shift_Del_p.L52fs	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	52	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			AAGTTGTTTAAGGGGGGTAGA	0.572			A		"""ovarian, pancreatic """							
TMEM145	284339	broad.mit.edu	37	19	42827923	42827923	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:42827922_42827922TC>T	uc002otk.1	+	13	1434	c.1382_1382TC>T	c.(1381-1383)atcfs	p.I461fs	MEGF8_uc002otl.4_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	461						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CTCTTCTCCATCCCCCCGCCC	0.706												
ZNF428	126299	broad.mit.edu	37	19	44112181	44112183	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:44112180_44112182TTCC>T	uc002oxa.3	-	2	589_591	c.154_156GGAA>A	c.(154-156)gaa>A	p.E54del	SRRM5_uc002oxb.2_Intron	NM_182498	NP_872304	Q96B54	ZN428_HUMAN	Homo sapiens zinc finger protein 428 (ZNF428), mRNA.	54	Glu-rich.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				TGGTctcctcttcctcctcctcc	0.616												
FKRP	79147	broad.mit.edu	37	19	47259843	47259844	+	Frame_Shift_Ins	INS	-	-	GG	rs140217866		TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:47259842_47259843C>CGG	uc002pfn.2	+	3	1432_1433	c.1135_1136C>CGG	c.(1135-1137)cggfs	p.R379fs	FKRP_uc002pfp.2_Frame_Shift_Ins_p.R379fs|FKRP_uc021uwj.1_Frame_Shift_Ins_p.R379fs	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	379						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGAGCAGCTGCGGGGGGCAGAG	0.658												
MEIS3	56917	broad.mit.edu	37	19	47918126	47918127	+	Splice_Site	INS	-	-	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:47918125_47918126T>TG	uc002pgq.3	-	6	757	c.691_splice	c.e6-1	p.V231_splice	MEIS3_uc002pgo.3_5'Flank|MEIS3_uc002pgp.3_5'UTR|MEIS3_uc002pgr.3_Splice_Site_p.V18_splice|MEIS3_uc002pgs.3_Splice_Site_p.V150_splice|MEIS3_uc002pgt.3_Intron|MEIS3_uc010eld.3_Splice_Site_p.V150_splice	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	150	Ser/Thr-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTCGTGGACCTGGGGGGGCACC	0.683												
CABP5	56344	broad.mit.edu	37	19	48537535	48537535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:48537534_48537534CG>C	uc002phu.2	-	4	566	c.434_434CG>G	c.(433-435)cggfs	p.R145fs		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	145	EF-hand 4.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AGAGATCTCCCGGGGGGTGAG	0.597												
LMTK3	114783	broad.mit.edu	37	19	49005800	49005800	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49005799_49005799CG>C	uc002pjk.3	-	7	772	c.772_772CG>G	c.(772-774)gagfs	p.E258fs		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)		GACAGGCCCTCGGGGGGCCGC	0.687												
TULP2	7288	broad.mit.edu	37	19	49391245	49391246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49391244_49391245A>AG	uc002pkz.2	-	7	1061_1062	c.910_911T>CT	c.(910-912)ctcfs	p.L304fs		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	304					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GAGGTAGTAGAGGGGGAACAAG	0.614												
NUCB1	4924	broad.mit.edu	37	19	49404147	49404148	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:49404146_49404147A>AG	uc002plb.4	+	1	427_428	c.93_94A>AG	c.(91-96)cgagggfs	p.R31fs	NUCB1_uc002pla.3_Frame_Shift_Ins_p.R31fs|TULP2_uc002pkz.2_5'Flank|Mir_324_uc021uxa.1_5'Flank	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	31						ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCCTGGAGCGAGGGGCGCCCAA	0.658												
FCGRT	2217	broad.mit.edu	37	19	50017380	50017380	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:50017379_50017379TG>T	uc002pog.2	+	1	536	c.314_314TG>T	c.(313-315)ttgfs	p.L105fs	FCGRT_uc002poe.2_Frame_Shift_Del_p.L105fs|FCGRT_uc002pof.2_5'UTR|FCGRT_uc010yax.2_Frame_Shift_Del_p.L105fs|FCGRT_uc002poh.2_5'Flank	NM_004107	NP_004098	P55899	FCGRN_HUMAN	Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 2, mRNA.	105	Alpha-1.				antigen processing and presentation|female pregnancy|immune response	MHC class I protein complex|integral to membrane	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TTCAAAGCTTTGGGGGGAAAA	0.582												
KLK5	25818	broad.mit.edu	37	19	51452298	51452298	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:51452297_51452297AC>A	uc002pue.3	-	4	628	c.410_410GT>T	c.(409-411)gtcfs	p.V137fs	KLK5_uc002puf.3_Frame_Shift_Del_p.V137fs|KLK5_uc002pug.3_Frame_Shift_Del_p.V137fs	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	137	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GATGGATTTGACCCCCTGGAA	0.527												
LILRA1	11024	broad.mit.edu	37	19	55086027	55086027	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr19:55086026_55086026AC>A	uc010ern.3	+	3	798	c.329_329AC>A	c.(328-330)gacfs	p.D110fs	LILRA1_uc002qgg.4_Frame_Shift_Del_p.D110fs|LILRA1_uc002qgf.3_Frame_Shift_Del_p.D110fs|LILRA1_uc010yfe.1_Frame_Shift_Del_p.D110fs|LILRA1_uc010yff.1_Frame_Shift_Del_p.D98fs|LILRA1_uc010ero.3_Frame_Shift_Del_p.D98fs|LILRA1_uc010yfg.1_Frame_Shift_Del_p.D110fs			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	112	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAGTACAGTGACCCCCTGGAG	0.607												
ITPA	3704	broad.mit.edu	37	20	3193863	3193864	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:3193862_3193863G>GA	uc002wid.3	+	1	256_257	c.114_115G>GA	c.(112-117)cagaaafs	p.Q38fs	ITPA_uc002wie.3_Frame_Shift_Ins_p.Q21fs|ITPA_uc002wif.3_Intron	NM_033453	NP_258412	Q9BY32	ITPA_HUMAN	Homo sapiens inosine triphosphatase (nucleoside triphosphate pyrophosphatase) (ITPA), transcript variant 1, mRNA.	38					nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding			autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						TGGTGGCACAGAAAATTGACCG	0.391												
DSTN	11034	broad.mit.edu	37	20	17581680	17581681	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:17581679_17581680G>GT	uc002wpr.3	+	1	555_556	c.300_301G>GT	c.(298-303)atgtttfs	p.M100fs	DSTN_uc002wpq.3_Frame_Shift_Ins_p.M83fs|DSTN_uc010gck.3_Frame_Shift_Ins_p.M83fs	NM_006870	NP_001011546	P60981	DEST_HUMAN	Homo sapiens destrin (actin depolymerizing factor) (DSTN), transcript variant 1, mRNA.	100	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAGAGTTGATGTTTTTTTTGTG	0.356												
PLAGL2	5326	broad.mit.edu	37	20	30789952	30789952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	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												
DNMT3B	1789	broad.mit.edu	37	20	31384651	31384651	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:31384650_31384650AG>A	uc002wyc.3	+	12	1673	c.1352_1352AG>A	c.(1351-1353)gagfs	p.E451fs	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Frame_Shift_Del_p.E431fs|DNMT3B_uc002wye.3_Frame_Shift_Del_p.E431fs|DNMT3B_uc010ztz.2_Frame_Shift_Del_p.E389fs|DNMT3B_uc010zua.2_Frame_Shift_Del_p.E355fs|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Frame_Shift_Del_p.E443fs|DNMT3B_uc002wyg.3_Frame_Shift_Del_p.E150fs	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	451	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTC	0.562												
CBFA2T2	9139	broad.mit.edu	37	20	32224505	32224505	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:32224504_32224504GA>G	uc002wzg.1	+	9	1851	c.1314_1314GA>G	c.(1312-1314)tggfs	p.W438fs	CBFA2T2_uc010zug.1_Frame_Shift_Del_p.W212fs|CBFA2T2_uc002wze.1_Frame_Shift_Del_p.W429fs|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Frame_Shift_Del_p.W409fs|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_5'Flank	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	438						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TGGAGTTTTGGAAAAAAACAG	0.443												
CTSA	5476	broad.mit.edu	37	20	44523668	44523669	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:44523667_44523668A>AC	uc002xqh.3	+	10	1411_1412	c.1037_1038A>AC	c.(1036-1038)gacfs	p.D346fs	CTSA_uc002xqj.4_Frame_Shift_Ins_p.D328fs|CTSA_uc010zxi.2_Frame_Shift_Ins_p.D329fs|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	328					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	p.C349fs*36(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GTGCGCATGGACCCCCCCTGCA	0.634												
RGS19	10287	broad.mit.edu	37	20	62705237	62705238	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr20:62705236_62705237C>CA	uc002yhy.3	-	5	890_891	c.623_624G>TG	c.(622-624)cagfs	p.Q208fs	RGS19_uc002yhz.3_Frame_Shift_Ins_p.Q186fs|RGS19_uc002yib.3_Frame_Shift_Ins_p.Q208fs	NM_005873	NP_001034556	P49795	RGS19_HUMAN	Homo sapiens regulator of G-protein signaling 19 (RGS19), transcript variant 1, mRNA.	208	Interaction with GIPC.				G-protein coupled receptor protein signaling pathway|autophagy|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GTGATGGCCCCTGCAGCAGCAG	0.663												
APP	351	broad.mit.edu	37	21	27423346	27423347	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:27423345_27423346G>GC	uc002ylz.3	-	4	832_833	c.632_633C>GC	c.(631-633)ggcfs	p.G211fs	APP_uc010glk.3_Frame_Shift_Ins_p.G206fs|APP_uc002yma.3_Frame_Shift_Ins_p.G211fs|APP_uc011ach.2_Frame_Shift_Ins_p.G155fs|APP_uc021whz.1_Frame_Shift_Ins_p.G211fs|APP_uc021wia.1_Frame_Shift_Ins_p.G211fs|APP_uc002ymb.3_Frame_Shift_Ins_p.G211fs|APP_uc010glj.3_Frame_Shift_Ins_p.G155fs|APP_uc021wib.1_Frame_Shift_Ins_p.G211fs|APP_uc011aci.2_Frame_Shift_Ins_p.G176fs|APP_uc011acj.2_Frame_Shift_Ins_p.G211fs	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	211					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGTCTGCTCCGCCCCACCAGAC	0.495												
DYRK1A	1859	broad.mit.edu	37	21	38853059	38853059	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr21:38853058_38853058TA>T	uc002ywk.3	+	3	522	c.446_446TA>T	c.(445-447)gtafs	p.V149fs	DYRK1A_uc002ywh.1_Frame_Shift_Del_p.V111fs|DYRK1A_uc002ywi.3_Frame_Shift_Del_p.V149fs|DYRK1A_uc002ywj.3_Frame_Shift_Del_p.V140fs|DYRK1A_uc002ywm.3_Frame_Shift_Del_p.V149fs	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	149					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GATTATATTGTAAAAAACGGA	0.378												
ATP6V1E1	529	broad.mit.edu	37	22	18081008	18081008	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:18081007_18081007GT>G	uc002zmr.1	-	6	670	c.483_483AC>C	c.(481-483)aacfs	p.N161fs	ATP6V1E1_uc002zms.1_Frame_Shift_Del_p.N131fs|ATP6V1E1_uc002zmt.1_Frame_Shift_Del_p.N139fs	NM_001696	NP_001687	P36543	VATE1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 (ATP6V1E1), transcript variant 1, mRNA.	161					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		CATCAACATCGTTTTTGGTGG	0.463												
TPST2	8459	broad.mit.edu	37	22	26932299	26932299	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:26932298_26932298TG>T	uc003acw.3	-	3	1338	c.997_997CA>A	c.(997-999)aacfs	p.N333fs	TPST2_uc003acx.3_Frame_Shift_Del_p.N333fs	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	333					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TTGCCATAGTTGGGGGGGTTT	0.582												
DMC1	11144	broad.mit.edu	37	22	38934340	38934340	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:38934339_38934339AT>A	uc003avz.1	-	10	911	c.736_736AT>T	c.(736-738)ttgfs	p.L246fs	DMC1_uc011anv.1_Frame_Shift_Del_p.L191fs	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	246					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					ATCTGGGCCAATTTTTGCTGC	0.383								Homologous recombination				
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213781	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chr22:43213779_43213780A>AT	uc003bdd.2	-	9	1116_1117	c.896_897T>AT	c.(895-897)aatfs	p.N299fs	ARFGAP3_uc010gzf.2_Frame_Shift_Ins_p.N255fs|ARFGAP3_uc011apu.1_Frame_Shift_Ins_p.N227fs	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTGAGTCAACATTTTTTTTGCC	0.361												
AFF2	2334	broad.mit.edu	37	X	148037457	148037457	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-A4BE-01A-12D-A24D-08	TCGA-FP-A4BE-11A-11D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecb395bb-a579-43f8-9a0c-549e3878335f	aeb705ac-45f4-4182-b838-9a6e8b47eadf	g.chrX:148037456_148037456GA>G	uc004fcp.3	+	10	2360	c.1881_1881GA>G	c.(1879-1881)gggfs	p.G627fs	AFF2_uc004fcq.3_Frame_Shift_Del_p.G617fs|AFF2_uc004fcr.3_Frame_Shift_Del_p.G588fs|AFF2_uc011mxb.2_Frame_Shift_Del_p.G592fs|AFF2_uc004fcs.3_Frame_Shift_Del_p.G594fs|AFF2_uc011mxc.2_Frame_Shift_Del_p.G268fs	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	627					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			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)					GGACAATTGGGAAAAAACAGC	0.438