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
NOC2L	26155	broad.mit.edu	37	1	891591	891591	+	Missense_Mutation	SNP	C	C	T	rs138672231	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:891591C>T	uc001abz.3	-	5	550	c.491G>A	c.(490-492)CGC>CAC	p.R164H	NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Missense_Mutation_p.R164H	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	164						nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGGAGTGAGGCGTTGCTGAAG	0.597												
AGRN	375790	broad.mit.edu	37	1	977462	977462	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:977462C>T	uc001ack.1	+	7	1354	c.1304C>T	c.(1303-1305)ACG>ATG	p.T435M		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	435	Kazal-like 4.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GACGGGCGCACGTATGACAGT	0.711												
AGRN	375790	broad.mit.edu	37	1	979585	979585	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:979585A>C	uc001ack.1	+	11	2146	c.2096A>C	c.(2095-2097)GAG>GCG	p.E699A		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	699	Kazal-like 8.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGGACTCGGAGGACGGGCCG	0.706												
TNFRSF4	7293	broad.mit.edu	37	1	1147460	1147460	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:1147460A>G	uc001ade.2	-	5	501	c.496T>C	c.(496-498)TGT>CGT	p.C166R	TNFRSF4_uc001adf.2_Missense_Mutation_p.C170R	NM_003327	NP_003318	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily,	166	TNFR-Cys 4.|Extracellular (Potential).				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor 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;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGTCCTCACAGATTGCGTCC	0.667												
ACAP3	116983	broad.mit.edu	37	1	1236072	1236072	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:1236072C>A	uc001aeb.2	-	6	413	c.339G>T	c.(337-339)GAG>GAT	p.E113D	ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Missense_Mutation_p.E71D|ACAP3_uc001aec.1_Missense_Mutation_p.E71D	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	113					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						TCCGCACATCCCTGGAGGCCA	0.542												
NADK	65220	broad.mit.edu	37	1	1696665	1696665	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:1696665A>G	uc009vkw.2	-	2	300	c.179_splice	c.e2+1	p.R60_splice	NADK_uc001aic.2_Splice_Site_p.R60_splice|NADK_uc001aid.3_Splice_Site_p.R60_splice|NADK_uc001aie.2_Splice_Site_p.R60_splice|NADK_uc009vkx.1_Intron	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase						ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TCCCAGTTGTACCTGAACTCC	0.522												
PLCH2	9651	broad.mit.edu	37	1	2420769	2420769	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:2420769C>A	uc001aji.1	+	9	1633	c.1359C>A	c.(1357-1359)GCC>GCA	p.A453A	PLCH2_uc010nyz.1_Silent_p.A241A|PLCH2_uc009vle.1_Silent_p.A241A|PLCH2_uc001ajj.1_Silent_p.A241A|PLCH2_uc001ajk.1_Silent_p.A241A	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	453	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GTGAAGATGCCACCACACTCC	0.562												
ACTRT2	140625	broad.mit.edu	37	1	2938735	2938735	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:2938735C>T	uc001ajz.2	+	1	690	c.485C>T	c.(484-486)GCG>GTG	p.A162V		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	162						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		AGCGGGGATGCGGTCACCTGC	0.647												
PRDM16	63976	broad.mit.edu	37	1	3102700	3102700	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:3102700G>A	uc001akf.2	+	2	129	c.49G>A	c.(49-51)GTT>ATT	p.V17I	PRDM16_uc001akc.2_Missense_Mutation_p.V17I|PRDM16_uc001akd.2_Missense_Mutation_p.V17I|PRDM16_uc001ake.2_Missense_Mutation_p.V17I|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	17					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)		TGACGGTGACGTTGTAAATAA	0.627			T	EVI1	MDS|AML							
ARHGEF16	27237	broad.mit.edu	37	1	3395177	3395177	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:3395177G>A	uc001akg.3	+	12	2062	c.1814_splice	c.e12+1	p.A605_splice	ARHGEF16_uc001aki.2_Splice_Site_p.A317_splice|ARHGEF16_uc001akj.2_Splice_Site_p.A317_splice|ARHGEF16_uc010nzh.1_Splice_Site_p.A309_splice	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16						activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGGACTCCGCGTAAGTGGGCT	0.677												
MEGF6	1953	broad.mit.edu	37	1	3412517	3412517	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:3412517A>G	uc001akl.2	-	30	4035	c.3808T>C	c.(3808-3810)TGC>CGC	p.C1270R	MEGF6_uc001akk.2_Missense_Mutation_p.C1035R	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	1270	EGF-like 23.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ACAGGGTCGCAGGCCGCCCCC	0.706												
AJAP1	55966	broad.mit.edu	37	1	4832521	4832521	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:4832521G>A	uc001alm.1	+	4	1480	c.1099G>A	c.(1099-1101)GTG>ATG	p.V367M	AJAP1_uc001aln.2_Missense_Mutation_p.V367M	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	367	Targeting signals.|Cytoplasmic (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATCTGTGCCCGTGTACACCGA	0.587												
NPHP4	261734	broad.mit.edu	37	1	6029244	6029244	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:6029244G>A	uc001alq.1	-	4	621	c.355C>T	c.(355-357)CGG>TGG	p.R119W	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	119					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)		CTCCCATCCCGTTTCTTGCCC	0.527												
KCNAB2	8514	broad.mit.edu	37	1	6100681	6100681	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:6100681C>T	uc009vlv.1	+	2	188	c.53C>T	c.(52-54)ACG>ATG	p.T18M	KCNAB2_uc001alv.1_Missense_Mutation_p.T18M|KCNAB2_uc001alw.1_Missense_Mutation_p.T18M|KCNAB2_uc001alx.1_Missense_Mutation_p.T18M|KCNAB2_uc001alu.2_Missense_Mutation_p.T18M	NM_003636	NP_003627	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related	18						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGGCAGACGGGCTCCCCC	0.632												
CHD5	26038	broad.mit.edu	37	1	6170003	6170003	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:6170003C>T	uc001amb.1	-	38	5530	c.5430G>A	c.(5428-5430)GCG>GCA	p.A1810A	CHD5_uc001alz.1_Silent_p.A667A|CHD5_uc001ama.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1810					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)		TGTTCAGGTACGCGGCCCTCC	0.701												
ICMT	23463	broad.mit.edu	37	1	6285304	6285304	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:6285304T>C	uc001amk.2	-	5	764	c.691A>G	c.(691-693)ATC>GTC	p.I231V	ICMT_uc001aml.2_Missense_Mutation_p.I135V	NM_012405	NP_036537	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	231	Helical; (Potential).				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		ACGCCGCAGATGGGGTTACAC	0.522												
PLEKHG5	57449	broad.mit.edu	37	1	6529449	6529449	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:6529449C>A	uc001ano.1	-	19	2264	c.2163G>T	c.(2161-2163)CAG>CAT	p.Q721H	PLEKHG5_uc001ann.1_Missense_Mutation_p.Q702H|PLEKHG5_uc001anq.1_Missense_Mutation_p.Q742H|PLEKHG5_uc001anp.1_Missense_Mutation_p.Q742H|PLEKHG5_uc001anj.1_Missense_Mutation_p.Q226H|PLEKHG5_uc009vma.1_Missense_Mutation_p.Q505H|PLEKHG5_uc010nzr.1_Missense_Mutation_p.Q734H|PLEKHG5_uc001ank.1_Missense_Mutation_p.Q665H|PLEKHG5_uc009vmb.1_Missense_Mutation_p.Q665H|PLEKHG5_uc001anl.1_Missense_Mutation_p.Q665H|PLEKHG5_uc001anm.1_Missense_Mutation_p.Q665H|PLEKHG5_uc001anr.1_5'Flank	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	721	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCACTGGCCTGGAACGTGT	0.562												
RERE	473	broad.mit.edu	37	1	8420748	8420748	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:8420748G>A	uc001ape.2	-	19	3629	c.2819C>T	c.(2818-2820)CCG>CTG	p.P940L	RERE_uc001apf.2_Missense_Mutation_p.P940L|RERE_uc010nzx.1_Missense_Mutation_p.P672L|RERE_uc001apd.2_Missense_Mutation_p.P386L	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	940	Pro-rich.			P -> A (in Ref. 1; BAA95898).	multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTGTGGCGCCGGCAGCTGGGG	0.697												
RERE	473	broad.mit.edu	37	1	8422838	8422838	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:8422838T>C	uc001ape.2	-	17	2617	c.1807A>G	c.(1807-1809)AAT>GAT	p.N603D	RERE_uc001apf.2_Missense_Mutation_p.N603D|RERE_uc010nzx.1_Missense_Mutation_p.N335D|RERE_uc001apd.2_Missense_Mutation_p.N49D	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	603					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATGTCTTCATTGATGGGTGAG	0.587												
TMEM201	199953	broad.mit.edu	37	1	9657106	9657106	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:9657106G>A	uc001apz.2	+	3	436	c.424G>A	c.(424-426)GAG>AAG	p.E142K	TMEM201_uc001apy.2_Missense_Mutation_p.E142K	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	142						integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CGCTCCCCGCGAGGAGGTGAG	0.677												
KIF1B	23095	broad.mit.edu	37	1	10381844	10381844	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:10381844C>T	uc001aqx.3	+	24	2489	c.2287C>T	c.(2287-2289)CGG>TGG	p.R763W	KIF1B_uc001aqw.3_Missense_Mutation_p.R717W|KIF1B_uc001aqy.2_Missense_Mutation_p.R737W|KIF1B_uc001aqz.2_Missense_Mutation_p.R763W|KIF1B_uc001ara.2_Missense_Mutation_p.R723W|KIF1B_uc001arb.2_Missense_Mutation_p.R749W	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	763					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TACTTCATTACGGGACTTACT	0.473												
CASZ1	54897	broad.mit.edu	37	1	10703053	10703053	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:10703053G>T	uc001aro.2	-	20	4345	c.4025C>A	c.(4024-4026)CCC>CAC	p.P1342H		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGGCCTGGGGGGCCCTGAAA	0.637												
MTOR	2475	broad.mit.edu	37	1	11291474	11291474	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:11291474C>A	uc001asd.2	-	17	2653	c.2532G>T	c.(2530-2532)CTG>CTT	p.L844L		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	844					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						CCAACTGTCCCAGGGTCCACA	0.458												
AGTRAP	57085	broad.mit.edu	37	1	11796279	11796279	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:11796279C>T	uc001asv.2	+	1	138	c.14C>T	c.(13-15)GCT>GTT	p.A5V	AGTRAP_uc001ast.2_Missense_Mutation_p.A5V|AGTRAP_uc001asu.2_Missense_Mutation_p.A5V|AGTRAP_uc001asw.2_Missense_Mutation_p.A5V|AGTRAP_uc001asx.2_Missense_Mutation_p.A5V	NM_020350	NP_065083	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	5	Extracellular (Potential).					cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	stomach(2)	2	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;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGCCTGCTGTGAACCTG	0.612												
MFN2	9927	broad.mit.edu	37	1	12049220	12049220	+	Splice_Site	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:12049220A>T	uc001atn.3	+	3	450	c.-3_splice	c.e3-2		MFN2_uc009vni.2_Splice_Site	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2						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)		CTTCTCTTGCAGCGCAATGTC	0.498												
TNFRSF1B	7133	broad.mit.edu	37	1	12267073	12267073	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:12267073G>A	uc001att.2	+	10	1471	c.1382G>A	c.(1381-1383)AGT>AAT	p.S461N	TNFRSF1B_uc001atu.2_Missense_Mutation_p.S266N|TNFRSF1B_uc009vnk.2_RNA	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	461	Cytoplasmic (Potential).				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			liver(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	ATGAAGCCCAGTTAACCAGGC	0.647												
KAZ	23254	broad.mit.edu	37	1	15390105	15390105	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:15390105A>G	uc001avm.3	+	7	1366	c.1085A>G	c.(1084-1086)AAC>AGC	p.N362S	KAZ_uc009vog.1_Missense_Mutation_p.N362S|KAZ_uc010obj.1_Missense_Mutation_p.N362S|KAZ_uc001avo.2_Missense_Mutation_p.N356S|KAZ_uc001avp.2_Missense_Mutation_p.N268S|KAZ_uc001avq.2_Missense_Mutation_p.N268S|KAZ_uc001avr.2_Silent_p.Q263Q	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	362					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0						AACCTGCACAACCCTATTGTA	0.577												
CASP9	842	broad.mit.edu	37	1	15832493	15832493	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:15832493C>T	uc001awn.2	-	5	807	c.712G>A	c.(712-714)GGC>AGC	p.G238S	CASP9_uc001awm.1_Missense_Mutation_p.G238S|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Missense_Mutation_p.G82S|CASP9_uc009voi.2_Missense_Mutation_p.G82S|CASP9_uc010obm.1_Missense_Mutation_p.G155S|CASP9_uc001awq.2_Missense_Mutation_p.G155S	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	238					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ACCTGACAGCCGTGAGAGAGA	0.597												
SLC25A34	284723	broad.mit.edu	37	1	16065821	16065821	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:16065821G>T	uc001axb.1	+	5	1007	c.835G>T	c.(835-837)GGC>TGC	p.G279C	SLC25A34_uc009vok.1_RNA	NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	279	Solcar 3.|Helical; Name=6; (Potential).				transport	integral to membrane|mitochondrial inner membrane					0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		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)		CCTGCGCCTGGGCCCCCACAC	0.682												
SPEN	23013	broad.mit.edu	37	1	16257670	16257670	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:16257670A>G	uc001axk.1	+	11	5139	c.4935A>G	c.(4933-4935)GTA>GTG	p.V1645V	SPEN_uc010obp.1_Silent_p.V1604V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1645					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)		TCACAGTCGTAACTCTAGAAT	0.493												
SPEN	23013	broad.mit.edu	37	1	16261773	16261773	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:16261773T>A	uc001axk.1	+	11	9242	c.9038T>A	c.(9037-9039)GTC>GAC	p.V3013D	SPEN_uc010obp.1_Missense_Mutation_p.V2972D	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3013					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)		GATCGAACTGTCTCCCATTTG	0.602												
EPHA2	1969	broad.mit.edu	37	1	16461594	16461594	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:16461594C>T	uc001aya.1	-	7	1656	c.1519G>A	c.(1519-1521)GTG>ATG	p.V507M		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	507	Extracellular (Potential).|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			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGTGCCTGCACCTGGACCAGG	0.662												
EPHA2	1969	broad.mit.edu	37	1	16464532	16464532	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:16464532G>A	uc001aya.1	-	5	1265	c.1128C>T	c.(1126-1128)TGC>TGT	p.C376C	EPHA2_uc010oca.1_Silent_p.C376C	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	376	Extracellular (Potential).|Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CACACGGCCCGCATTCCCCAG	0.657												
SPATA21	374955	broad.mit.edu	37	1	16736474	16736474	+	Missense_Mutation	SNP	G	G	A	rs141705517		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:16736474G>A	uc001ayn.2	-	6	692	c.209C>T	c.(208-210)GCG>GTG	p.A70V	SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.A47V	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	70							calcium ion binding			ovary(2)|breast(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TGCAGCCACCGCGGGCTTCTG	0.647												
ACTL8	81569	broad.mit.edu	37	1	18152415	18152415	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:18152415G>A	uc001bat.2	+	3	718	c.502G>A	c.(502-504)GCC>ACC	p.A168T		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	168						cytoplasm|cytoskeleton				ovary(4)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCCCTTGCCCGCCAGCGGCAA	0.607											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UBR4	23352	broad.mit.edu	37	1	19413188	19413188	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:19413188T>C	uc001bbi.2	-	100	14676	c.14672A>G	c.(14671-14673)CAT>CGT	p.H4891R	UBR4_uc010ocv.1_Missense_Mutation_p.H414R|UBR4_uc009vph.2_Missense_Mutation_p.H525R|UBR4_uc010ocw.1_Missense_Mutation_p.H555R|UBR4_uc001bbg.2_Missense_Mutation_p.H602R|UBR4_uc001bbh.2_Missense_Mutation_p.H600R	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4891					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)		GGCAGCCAGATGGCAGTCGTA	0.597												
UBR4	23352	broad.mit.edu	37	1	19503100	19503100	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:19503100T>G	uc001bbi.2	-	20	2763	c.2759A>C	c.(2758-2760)AAG>ACG	p.K920T	UBR4_uc001bbm.1_Missense_Mutation_p.K131T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	920					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)		TGAGAAATGCTTAGACCAGTT	0.468												
PQLC2	54896	broad.mit.edu	37	1	19653833	19653833	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:19653833G>T	uc001bby.2	+	8	1083	c.731G>T	c.(730-732)AGC>ATC	p.S244I	PQLC2_uc001bbz.2_Missense_Mutation_p.S179I|PQLC2_uc001bca.2_Missense_Mutation_p.S244I|PQLC2_uc001bcb.2_Missense_Mutation_p.S133I|PQLC2_uc001bcc.2_Missense_Mutation_p.S133I	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	244	Extracellular (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGCCAGAGCGAGGGCAGC	0.642												
LDLRAD2	401944	broad.mit.edu	37	1	22142503	22142503	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:22142503C>A	uc001bfg.1	+	3	766	c.579C>A	c.(577-579)CCC>CCA	p.P193P		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain	193	Extracellular (Potential).|LDL-receptor class A.					integral to membrane	receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		TGTGTGACCCCTGGGGCATGG	0.617												
HSPG2	3339	broad.mit.edu	37	1	22154539	22154539	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:22154539G>A	uc001bfj.2	-	90	12556	c.12516C>T	c.(12514-12516)GGC>GGT	p.G4172G	HSPG2_uc001bfi.2_Silent_p.G189G|HSPG2_uc009vqd.2_Silent_p.G4173G	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4172	EGF-like 4.				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)	GGCAGCGTGGGCCAGAGAAGC	0.642												
HSPG2	3339	broad.mit.edu	37	1	22160011	22160011	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:22160011C>T	uc001bfj.2	-	79	10967	c.10927G>A	c.(10927-10929)GCC>ACC	p.A3643T	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.A3644T	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3643	Ig-like C2-type 22.				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)	CGGTTAGTGGCGGTGCAGACG	0.622												
HSPG2	3339	broad.mit.edu	37	1	22166485	22166485	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:22166485G>A	uc001bfj.2	-	72	9579	c.9539C>T	c.(9538-9540)GCG>GTG	p.A3180V	HSPG2_uc009vqd.2_Missense_Mutation_p.A3181V	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3180	Ig-like C2-type 17.				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)	ATAAGTGCCCGCATCTGATGG	0.587												
C1QB	713	broad.mit.edu	37	1	22987468	22987468	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:22987468G>T	uc001bgd.2	+	3	483	c.351G>T	c.(349-351)AAG>AAT	p.K117N		NM_000491	NP_000482	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	117	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	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)	GAGACTACAAGGCCACCCAGA	0.617												
HMGCL	3155	broad.mit.edu	37	1	24140706	24140706	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:24140706C>T	uc001bib.2	-	5	515	c.471G>A	c.(469-471)GCG>GCA	p.A157A	HMGCL_uc010oec.1_Intron|HMGCL_uc009vqr.2_Intron|HMGCL_uc001bic.2_Silent_p.A132A|HMGCL_uc009vqs.1_Intron|HMGCL_uc001bid.1_Silent_p.A157A	NM_000191	NP_000182	P35914	HMGCL_HUMAN	3-hydroxy-3-methylglutaryl CoA lyase isoform 1	157					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TGGCTGACTGCGCTGCCTTCA	0.493												
MYOM3	127294	broad.mit.edu	37	1	24398464	24398464	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:24398464T>G	uc001bin.3	-	24	3171	c.3008A>C	c.(3007-3009)AAC>ACC	p.N1003T	MYOM3_uc001bim.3_Missense_Mutation_p.N660T|MYOM3_uc001bio.2_Missense_Mutation_p.N1003T	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1003										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTACCTGGGTTTCTGATCTC	0.537												
IL28RA	163702	broad.mit.edu	37	1	24484104	24484104	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:24484104G>A	uc001bis.2	-	7	1092	c.1079C>T	c.(1078-1080)TCG>TTG	p.S360L	IL28RA_uc001bir.2_Missense_Mutation_p.S331L|IL28RA_uc001bit.2_3'UTR|IL28RA_uc001biu.2_Missense_Mutation_p.S276L	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	interleukin 28 receptor, alpha isoform 1	360	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		ACCAGCCTCCGAGTGCCCTGG	0.612												
NIPAL3	57185	broad.mit.edu	37	1	24779967	24779967	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:24779967G>A	uc001bjh.2	+	7	1017	c.610G>A	c.(610-612)GTG>ATG	p.V204M	NIPAL3_uc010oek.1_Missense_Mutation_p.V204M|NIPAL3_uc001bjg.2_Missense_Mutation_p.V204M|NIPAL3_uc009vrc.2_Missense_Mutation_p.V122M|NIPAL3_uc001bji.2_5'Flank	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	204	Helical; (Potential).					integral to membrane					0						CAACATTGTCGTGATTCTTCT	0.483												
MAN1C1	57134	broad.mit.edu	37	1	26104809	26104809	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:26104809C>T	uc001bkm.2	+	9	1801	c.1471C>T	c.(1471-1473)CGC>TGC	p.R491C	MAN1C1_uc009vry.1_Missense_Mutation_p.R311C|MAN1C1_uc001bkn.2_5'Flank	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	491	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(1)	1		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)		GTCATACGCCCGCTCAGGTAA	0.597												
TRIM63	84676	broad.mit.edu	37	1	26383771	26383771	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:26383771C>T	uc001bli.1	-	7	1038	c.902G>A	c.(901-903)GGC>GAC	p.G301D		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	muscle specific ring finger protein 1	301	COS.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCTCAAAGCCCTGCTCTGT	0.537												
ZNF683	257101	broad.mit.edu	37	1	26694188	26694188	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:26694188G>T	uc001bmg.1	-	3	333	c.215C>A	c.(214-216)GCA>GAA	p.A72E	ZNF683_uc001bmh.1_Missense_Mutation_p.A72E|ZNF683_uc009vsj.1_Missense_Mutation_p.A72E	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGCCAGCAGTGCAGACCTGCC	0.652												
ARID1A	8289	broad.mit.edu	37	1	27105690	27105690	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:27105690A>G	uc001bmv.1	+	20	5674	c.5301A>G	c.(5299-5301)GAA>GAG	p.E1767E	ARID1A_uc001bmu.1_Silent_p.E1550E|ARID1A_uc001bmx.1_Silent_p.E613E|ARID1A_uc009vsm.1_Silent_p.E95E|ARID1A_uc009vsn.1_Silent_p.E9E	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1767					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)		AAGAAGAAGAACTTCTAGGTC	0.488			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
PIGV	55650	broad.mit.edu	37	1	27121141	27121141	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:27121141G>T	uc001bmz.2	+	3	947	c.616G>T	c.(616-618)GGG>TGG	p.G206W	PIGV_uc001bmy.2_Intron|PIGV_uc009vso.2_Missense_Mutation_p.G206W|PIGV_uc010ofg.1_Intron|PIGV_uc001bna.2_Missense_Mutation_p.G206W	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	206	Helical; (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)		ACGCTCCAACGGGCTGGTCAG	0.537												
NR0B2	8431	broad.mit.edu	37	1	27240230	27240230	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:27240230C>T	uc001bnf.2	-	1	338	c.202G>A	c.(202-204)GCC>ACC	p.A68T		NM_021969	NP_068804	Q15466	NR0B2_HUMAN	short heterodimer partner	68	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|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)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CTGAGGAAGGCCACTGTCTTG	0.662												
WDTC1	23038	broad.mit.edu	37	1	27630238	27630238	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:27630238G>A	uc009vst.2	+	14	2130	c.1595G>A	c.(1594-1596)GGC>GAC	p.G532D	WDTC1_uc001bno.2_Missense_Mutation_p.G531D|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.G210D	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	532							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CGCTACTGCGGCCACTGCAAC	0.547												
FCN3	8547	broad.mit.edu	37	1	27695732	27695732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:27695732G>A	uc001boa.2	-	8	901	c.895C>T	c.(895-897)CGA>TGA	p.R299*	MAP3K6_uc001bny.1_5'Flank|MAP3K6_uc009vsw.1_5'Flank|FCN3_uc001bob.2_Nonsense_Mutation_p.R288*	NM_003665	NP_003656	O75636	FCN3_HUMAN	ficolin 3 isoform 1 precursor	299	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding				0		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTGCCCTATCGAAGCATCATC	0.597												
MED18	54797	broad.mit.edu	37	1	28661116	28661116	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:28661116C>A	uc001bpt.3	+	3	507	c.262C>A	c.(262-264)CTG>ATG	p.L88M	MED18_uc009vtg.2_Missense_Mutation_p.L88M	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	88					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding				0		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGCGCTACCTGGGACAGCC	0.567												
PTPRU	10076	broad.mit.edu	37	1	29647292	29647292	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:29647292C>A	uc001bru.2	+	27	3923	c.3813C>A	c.(3811-3813)ACC>ACA	p.T1271T	PTPRU_uc001brv.2_Silent_p.T1267T|PTPRU_uc001brw.2_Silent_p.T1261T|PTPRU_uc009vtq.2_Silent_p.T1267T|PTPRU_uc009vtr.2_Silent_p.T1258T|PTPRU_uc001brx.2_5'UTR	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1271	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACGGGTGCACCTCCATCGTCA	0.632												
FABP3	2170	broad.mit.edu	37	1	31845853	31845853	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:31845853G>A	uc001bss.1	-	1	71	c.9C>T	c.(7-9)GAC>GAT	p.D3D		NM_004102	NP_004093	P05413	FABPH_HUMAN	fatty acid binding protein 3	3					negative regulation of cell proliferation					ovary(1)	1		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		CCAGGAAAGCGTCCACCATAG	0.587												
TINAGL1	64129	broad.mit.edu	37	1	32050532	32050532	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:32050532C>T	uc001bta.2	+	7	878	c.752C>T	c.(751-753)ACG>ATG	p.T251M	TINAGL1_uc001bsz.2_Missense_Mutation_p.T106M|TINAGL1_uc010ogj.1_Missense_Mutation_p.T220M|TINAGL1_uc010ogk.1_Missense_Mutation_p.T251M	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	251					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		GGACACATGACGCCTGTCCTG	0.637												
ZMYM1	79830	broad.mit.edu	37	1	35579555	35579555	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:35579555G>A	uc001bym.2	+	11	2272	c.2124G>A	c.(2122-2124)ATG>ATA	p.M708I	ZMYM1_uc001byn.2_Missense_Mutation_p.M708I|ZMYM1_uc010ohu.1_Missense_Mutation_p.M689I|ZMYM1_uc001byo.2_Missense_Mutation_p.M348I|ZMYM1_uc009vut.2_Missense_Mutation_p.M633I	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	708						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGTTGATATGGATAAAATAC	0.353												
CSF3R	1441	broad.mit.edu	37	1	36945039	36945039	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:36945039G>A	uc001caw.1	-	3	237	c.59C>T	c.(58-60)CCC>CTC	p.P20L	CSF3R_uc001cav.1_Missense_Mutation_p.P20L|CSF3R_uc001cax.1_Missense_Mutation_p.P20L|CSF3R_uc001cay.1_Missense_Mutation_p.P20L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	20					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTCACTTCCGGGGAGCAGCAG	0.542												
ZC3H12A	80149	broad.mit.edu	37	1	37948713	37948713	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:37948713A>T	uc001cbb.3	+	6	1451	c.1301A>T	c.(1300-1302)GAT>GTT	p.D434V	ZC3H12A_uc001cbc.1_Missense_Mutation_p.D229V	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	434					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCTCCCAGGATTGCCTGGAC	0.672												
MANEAL	149175	broad.mit.edu	37	1	38265378	38265378	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:38265378C>T	uc001cby.2	+	4	958	c.877C>T	c.(877-879)CGC>TGC	p.R293C	MANEAL_uc001cbx.2_Intron|MANEAL_uc001cbz.2_Missense_Mutation_p.R71C	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like isoform 3	293	Lumenal (Potential).					Golgi membrane|integral to membrane	hydrolase activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCATTCGATCCGCAACACGCC	0.592												
INPP5B	3633	broad.mit.edu	37	1	38351483	38351483	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:38351483G>A	uc001ccg.1	-	13	1240	c.1146C>T	c.(1144-1146)GGC>GGT	p.G382G	INPP5B_uc009vvk.1_Silent_p.G323G|INPP5B_uc001ccf.1_Silent_p.G218G|INPP5B_uc010oij.1_Intron	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	462					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)				TGATCGCCACGCCTCCCTTGT	0.423												
MACF1	23499	broad.mit.edu	37	1	39753010	39753010	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:39753010C>A	uc010ois.1	+	16	1781	c.1576C>A	c.(1576-1578)CTG>ATG	p.L526M	MACF1_uc001cda.1_Missense_Mutation_p.L434M	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	526					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)			GTGTACAAACCTGTACCGGAA	0.433												
KIAA0754	643314	broad.mit.edu	37	1	39878979	39878979	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:39878979C>A	uc009vvt.1	+	1	3804	c.3042C>A	c.(3040-3042)ACC>ACA	p.T1014T	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	878	Ala-rich.|1.										0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGAGCCCACCTCCCCAGCTG	0.692												
MACF1	23499	broad.mit.edu	37	1	39905101	39905101	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:39905101G>A	uc010oiu.1	+	37	13836	c.13705G>A	c.(13705-13707)GAT>AAT	p.D4569N	MACF1_uc010ois.1_Missense_Mutation_p.D4067N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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)			AGACACCCAGGATATTGTCCA	0.433												
HEYL	26508	broad.mit.edu	37	1	40105268	40105268	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:40105268G>A	uc001cdp.2	-	1	81	c.30C>T	c.(28-30)TCC>TCT	p.S10S		NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	hairy/enhancer-of-split related with YRPW	10					multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S10S(1)		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;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTCCCCGTCGGAGCCGCTCG	0.667												
TRIT1	54802	broad.mit.edu	37	1	40313688	40313688	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:40313688C>T	uc010oiz.1	-	6	799	c.785G>A	c.(784-786)CGC>CAC	p.R262H	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_5'UTR|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.R16H|TRIT1_uc001ceh.3_Missense_Mutation_p.R16H|TRIT1_uc009vvv.2_Missense_Mutation_p.R121H|TRIT1_uc001cei.3_Missense_Mutation_p.R16H|TRIT1_uc001ceq.2_5'UTR|TRIT1_uc001cek.2_5'UTR|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.R180H|TRIT1_uc001cen.2_Missense_Mutation_p.R16H|TRIT1_uc001ceo.2_Missense_Mutation_p.R16H|TRIT1_uc001cep.2_Missense_Mutation_p.R16H	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	262					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGATTATAGCGTCTGTGAAA	0.413												
RLF	6018	broad.mit.edu	37	1	40706021	40706021	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:40706021C>T	uc001cfc.3	+	8	5678	c.5647C>T	c.(5647-5649)CGG>TGG	p.R1883W	RLF_uc001cfd.3_Missense_Mutation_p.R1574W	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	1883					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)			TCATTATCTTCGGCCAGTGGT	0.388												
NFYC	4802	broad.mit.edu	37	1	41223946	41223946	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:41223946G>A	uc001cge.2	+	5	549	c.541G>A	c.(541-543)GCA>ACA	p.A181T	NFYC_uc010ojm.1_Missense_Mutation_p.A87T|NFYC_uc001cfx.3_Missense_Mutation_p.A181T|NFYC_uc009vwd.2_Missense_Mutation_p.A181T|NFYC_uc001cfz.2_Missense_Mutation_p.A181T|NFYC_uc010ojn.1_Missense_Mutation_p.A143T|NFYC_uc001cfy.3_Missense_Mutation_p.A181T|NFYC_uc001cgc.2_Missense_Mutation_p.A181T|NFYC_uc001cgb.2_Missense_Mutation_p.A181T|NFYC_uc001cgd.3_Missense_Mutation_p.A181T	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma isoform 1	181					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|kidney(1)	3	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GATCATCATCGCACAGCCTCA	0.607												
SCMH1	22955	broad.mit.edu	37	1	41514425	41514425	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:41514425C>T	uc001cgo.2	-	11	1524	c.1213G>A	c.(1213-1215)GCT>ACT	p.A405T	SCMH1_uc010ojr.1_Missense_Mutation_p.A247T|SCMH1_uc001cgp.2_Missense_Mutation_p.A344T|SCMH1_uc001cgr.2_Missense_Mutation_p.A344T|SCMH1_uc001cgs.2_Missense_Mutation_p.A415T|SCMH1_uc001cgt.2_Missense_Mutation_p.A344T|SCMH1_uc001cgq.2_Missense_Mutation_p.A358T|SCMH1_uc010ojs.1_RNA	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN	sex comb on midleg 1 isoform 1	405					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TGGTGATAAGCACAGTCGATA	0.527												
HIVEP3	59269	broad.mit.edu	37	1	42045429	42045429	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:42045429G>A	uc001cgz.3	-	4	6253	c.5040C>T	c.(5038-5040)TCC>TCT	p.S1680S	HIVEP3_uc001cha.3_Silent_p.S1680S|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1680					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGGCTTGCGGGAGCTGGATG	0.512												
HIVEP3	59269	broad.mit.edu	37	1	42045971	42045971	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:42045971A>G	uc001cgz.3	-	4	5711	c.4498T>C	c.(4498-4500)TCC>CCC	p.S1500P	HIVEP3_uc001cha.3_Missense_Mutation_p.S1500P|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1500					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GACAGGCTGGACAGCATTTCT	0.562												
FAM183A	440585	broad.mit.edu	37	1	43613619	43613619	+	Translation_Start_Site	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:43613619G>T	uc009vwo.2	+	1	26	c.-3G>T	c.(-5--1)AAGGC>AATGC			NM_001101376	NP_001094846	A6NL82	F183A_HUMAN	hCG23177											ovary(3)	3						GGCAGCCCAAGGCCATGGCGG	0.607												
MPL	4352	broad.mit.edu	37	1	43803832	43803832	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:43803832C>A	uc001ciw.2	+	2	187	c.142C>A	c.(142-144)CTC>ATC	p.L48I	MPL_uc001civ.2_Missense_Mutation_p.L48I|MPL_uc009vwr.2_Missense_Mutation_p.L41I	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	48	Extracellular (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTTGAGGACCTCACTTGCTT	0.582			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia					
MPL	4352	broad.mit.edu	37	1	43804224	43804224	+	Missense_Mutation	SNP	G	G	A	rs148276667		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:43804224G>A	uc001ciw.2	+	3	269	c.224G>A	c.(223-225)CGT>CAT	p.R75H	MPL_uc001civ.2_Missense_Mutation_p.R75H|MPL_uc009vwr.2_Missense_Mutation_p.R68H	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	75	Extracellular (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGAAGCCCCGTGCTTGCCCC	0.597			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia					
CDC20	991	broad.mit.edu	37	1	43825639	43825639	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:43825639G>A	uc001cix.2	+	5	529	c.428_splice	c.e5-1	p.G143_splice	CDC20_uc001ciy.2_Splice_Site_p.G143_splice	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20						activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGTTGCCACAGGTTATCAGAA	0.522												
KIAA0467	23334	broad.mit.edu	37	1	43909433	43909433	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:43909433C>T	uc001cjk.1	+	47	6556	c.6094C>T	c.(6094-6096)CTG>TTG	p.L2032L	KIAA0467_uc001cjl.1_5'Flank	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2931						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGTTTTGTGCTGGTACCACT	0.622												
PTPRF	5792	broad.mit.edu	37	1	44063524	44063524	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:44063524C>G	uc001cjr.2	+	12	2259	c.1919C>G	c.(1918-1920)ACC>AGC	p.T640S	PTPRF_uc001cjs.2_Missense_Mutation_p.T640S|PTPRF_uc001cju.2_Missense_Mutation_p.T211S|PTPRF_uc009vwt.2_Missense_Mutation_p.T211S|PTPRF_uc001cjv.2_Intron|PTPRF_uc001cjw.2_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	640	Extracellular (Potential).|Fibronectin type-III 4.				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)				GGCGTTATCACCCAGTACTCC	0.682												
PTPRF	5792	broad.mit.edu	37	1	44083479	44083479	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:44083479C>T	uc001cjr.2	+	25	4608	c.4268C>T	c.(4267-4269)ACG>ATG	p.T1423M	PTPRF_uc001cjs.2_Missense_Mutation_p.T1414M|PTPRF_uc001cju.2_Missense_Mutation_p.T812M|PTPRF_uc009vwt.2_Missense_Mutation_p.T983M|PTPRF_uc001cjv.2_Missense_Mutation_p.T894M|PTPRF_uc001cjw.2_Missense_Mutation_p.T649M	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1423	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)				TACATCGCCACGCAGGGCCCC	0.592												
PTCH2	8643	broad.mit.edu	37	1	45288282	45288282	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:45288282G>A	uc010olf.1	-	22	3429	c.3417C>T	c.(3415-3417)GGC>GGT	p.G1139G	PTCH2_uc010olg.1_Silent_p.G837G	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	1139	Cytoplasmic (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					ACCTAAGCCCGCCTCCCTGTG	0.642									Basal_Cell_Nevus_syndrome			
ZSWIM5	57643	broad.mit.edu	37	1	45484137	45484137	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:45484137G>A	uc001cnd.2	-	14	3775	c.3547C>T	c.(3547-3549)CGC>TGC	p.R1183C		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	1183							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CAGCCAAAGCGCTCTCGCACC	0.547											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IPP	3652	broad.mit.edu	37	1	46211986	46211986	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:46211986C>T	uc001cou.2	-	2	365	c.98G>A	c.(97-99)GGA>GAA	p.G33E	IPP_uc001cos.3_Missense_Mutation_p.G33E	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	33						actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GAAATGCTGTCCATTTCTCAT	0.448												
C1orf190	541468	broad.mit.edu	37	1	46685586	46685586	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:46685586G>A	uc010oma.1	+	2	507	c.414G>A	c.(412-414)CGG>CGA	p.R138R	POMGNT1_uc001cpg.2_5'UTR|POMGNT1_uc001cpf.2_5'UTR	NM_001013615	NP_001013633	Q96LR2	CA190_HUMAN	hypothetical protein LOC541468	138					positive regulation of cytokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm				ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)					CCACCGACCGGCTGGACAGTG	0.652												
UQCRH	7388	broad.mit.edu	37	1	46775925	46775925	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:46775925A>G	uc001cpp.2	+	3	239	c.180A>G	c.(178-180)CGA>CGG	p.R60R	UQCRH_uc001cpq.2_RNA	NM_006004	NP_005995	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	60					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity				0	Acute lymphoblastic leukemia(166;0.155)					TATCCTCTCGATCACATACAG	0.522												
FAF1	11124	broad.mit.edu	37	1	50941256	50941256	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:50941256G>A	uc009vyx.1	-	19	1812	c.1749C>T	c.(1747-1749)GGC>GGT	p.G583G	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Silent_p.G583G|FAF1_uc010onc.1_Silent_p.G341G	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	583	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCAAGAACTCGCCACTGGGGG	0.532												
NRD1	4898	broad.mit.edu	37	1	52258067	52258067	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:52258067C>T	uc001ctc.3	-	27	3331	c.3009G>A	c.(3007-3009)ACG>ACA	p.T1003T	NRD1_uc009vzb.2_Silent_p.T698T|NRD1_uc001ctd.3_Silent_p.T935T|NRD1_uc001cte.2_Silent_p.T871T|NRD1_uc001ctf.2_Silent_p.T935T	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	934					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						GCTCCATAAGCGTATATTCTC	0.473												
ZFYVE9	9372	broad.mit.edu	37	1	52703883	52703883	+	Missense_Mutation	SNP	C	C	T	rs142702216		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:52703883C>T	uc001cto.2	+	4	966	c.794C>T	c.(793-795)ACG>ATG	p.T265M	ZFYVE9_uc001ctn.2_Missense_Mutation_p.T265M|ZFYVE9_uc001ctp.2_Missense_Mutation_p.T265M	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	265					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						ACAAGTTTAACGGTTGATTCA	0.438												
FAM159A	348378	broad.mit.edu	37	1	53122609	53122609	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:53122609T>C	uc001cuf.2	+	3	570	c.470T>C	c.(469-471)CTC>CCC	p.L157P	FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.2_Intron	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	hypothetical protein LOC348378	157						integral to membrane					0						TCCAAACGCCTCCTCCATCAT	0.577												
GLIS1	148979	broad.mit.edu	37	1	53974874	53974874	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:53974874C>T	uc001cvr.1	-	9	2191	c.1624G>A	c.(1624-1626)GGA>AGA	p.G542R		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	542					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						CCGACCAGTCCGTCCCCACCG	0.647												
YIPF1	54432	broad.mit.edu	37	1	54331901	54331901	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:54331901A>T	uc001cvu.2	-	9	1140	c.803T>A	c.(802-804)CTC>CAC	p.L268H	YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	268	Helical; (Potential).					integral to membrane|transport vesicle				large_intestine(1)|ovary(1)	2						CAGCATATGGAGCAACACAAT	0.448												
DOCK7	85440	broad.mit.edu	37	1	62979425	62979425	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:62979425C>T	uc001daq.2	-	32	4115	c.4081G>A	c.(4081-4083)GAT>AAT	p.D1361N	DOCK7_uc001dan.2_Missense_Mutation_p.D1222N|DOCK7_uc001dao.2_Missense_Mutation_p.D1222N|DOCK7_uc001dap.2_Missense_Mutation_p.D1330N|DOCK7_uc001dam.2_Missense_Mutation_p.D541N|DOCK7_uc010oov.1_Missense_Mutation_p.D100N	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1361					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						TAAAGCAGATCTAATAGCCGG	0.373												
DOCK7	85440	broad.mit.edu	37	1	63113940	63113940	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:63113940C>T	uc001daq.2	-	6	603	c.569G>A	c.(568-570)AGC>AAC	p.S190N	DOCK7_uc001dan.2_Missense_Mutation_p.S82N|DOCK7_uc001dao.2_Missense_Mutation_p.S82N|DOCK7_uc001dap.2_Missense_Mutation_p.S190N|DOCK7_uc009wah.1_Missense_Mutation_p.S190N	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	190					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						ACAGGCCCAGCTACCCCTTGG	0.343												
CACHD1	57685	broad.mit.edu	37	1	64936594	64936594	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:64936594C>T	uc001dbo.1	+	1	119	c.14C>T	c.(13-15)GCG>GTG	p.A5V		NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	56	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2						CGGAGGCTGGCGGCCGAGGAG	0.682												
MIER1	57708	broad.mit.edu	37	1	67428798	67428798	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:67428798G>A	uc001dde.2	+	8	861	c.727G>A	c.(727-729)GCA>ACA	p.A243T	MIER1_uc010opf.1_Missense_Mutation_p.A207T|MIER1_uc009way.2_Missense_Mutation_p.A207T|MIER1_uc001ddc.2_Missense_Mutation_p.A243T|MIER1_uc001ddh.2_Missense_Mutation_p.A127T|MIER1_uc001ddf.2_Missense_Mutation_p.A207T|MIER1_uc001ddg.2_Missense_Mutation_p.A163T|MIER1_uc010opg.1_Missense_Mutation_p.A207T|MIER1_uc001ddj.1_Missense_Mutation_p.A190T|MIER1_uc001ddi.2_Missense_Mutation_p.A190T	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN	mesoderm induction early response 1 isoform b	214	ELM2.|Interaction with HDAC1.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)	1						CATGTTTCAAGCAGAAATTCC	0.313												
C1orf141	400757	broad.mit.edu	37	1	67592863	67592863	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:67592863C>T	uc001ddl.1	-	2	172	c.61G>A	c.(61-63)GCC>ACC	p.A21T	C1orf141_uc001ddm.1_Missense_Mutation_p.A21T|C1orf141_uc001ddn.1_RNA	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	hypothetical protein LOC400757	21										ovary(1)	1						GTTCTTCTGGCCAAGATTATC	0.313												
IL12RB2	3595	broad.mit.edu	37	1	67795357	67795357	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:67795357T>C	uc001ddu.2	+	6	1392	c.752T>C	c.(751-753)CTG>CCG	p.L251P	IL12RB2_uc010oqi.1_Missense_Mutation_p.L251P|IL12RB2_uc010oqj.1_Missense_Mutation_p.L251P|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.L251P|IL12RB2_uc010oqm.1_Missense_Mutation_p.L251P|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	251	Extracellular (Potential).|Fibronectin type-III 2.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						GATGAGGGACTGGTACTGCTT	0.428												
IL12RB2	3595	broad.mit.edu	37	1	67795414	67795414	+	Splice_Site	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:67795414T>C	uc001ddu.2	+	6	1447	c.807_splice	c.e6+2	p.M269_splice	IL12RB2_uc010oqi.1_Splice_Site_p.M269_splice|IL12RB2_uc010oqj.1_Splice_Site_p.M269_splice|IL12RB2_uc010oqk.1_Splice_Site|IL12RB2_uc010oql.1_Splice_Site_p.M269_splice|IL12RB2_uc010oqm.1_Splice_Site_p.M269_splice|IL12RB2_uc010oqn.1_Splice_Site	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor						positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						TGGAATATGGTAATTATCTTT	0.398												
GNG12	55970	broad.mit.edu	37	1	68173335	68173335	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:68173335G>A	uc001dea.1	-	3	227	c.35C>T	c.(34-36)GCC>GTC	p.A12V		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	G-protein gamma-12 subunit precursor	12					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0						CCTTGCCTGGGCTATATTGTT	0.388												
DIRAS3	9077	broad.mit.edu	37	1	68512564	68512564	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:68512564A>G	uc001ded.2	-	2	712	c.417T>C	c.(415-417)GGT>GGC	p.G139G	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	139					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1						GCAGGTTGTTACCTTTGATCT	0.547												
DEPDC1	55635	broad.mit.edu	37	1	68948218	68948218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:68948218C>A	uc001dem.3	-	8	1390	c.1273G>T	c.(1273-1275)GGA>TGA	p.G425*	DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	425					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCTACAATTCCTTCCAAAGAA	0.358												
CRYZ	1429	broad.mit.edu	37	1	75188879	75188879	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:75188879G>A	uc001dgk.2	-	4	692	c.187C>T	c.(187-189)CCA>TCA	p.P63S	CRYZ_uc001dgj.2_Missense_Mutation_p.P63S|CRYZ_uc001dgl.2_Missense_Mutation_p.P63S|CRYZ_uc001dgm.2_5'UTR	NM_001130042	NP_001123514	Q08257	QOR_HUMAN	crystallin, zeta isoform a	63					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding				0					Dicumarol(DB00266)	GGTAAGAGTGGTTTTCTACTA	0.413												
RABGGTB	5876	broad.mit.edu	37	1	76259894	76259894	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:76259894A>G	uc001dgy.1	+	8	902	c.831A>G	c.(829-831)GGA>GGG	p.G277G	MSH4_uc001dhd.1_5'Flank|RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Silent_p.G231G|RABGGTB_uc001dhc.1_RNA	NM_004582	NP_004573	P53611	PGTB2_HUMAN	RAB geranylgeranyltransferase, beta subunit	277	PFTB 6.				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			ovary(1)	1						AAACGGGGGGATTTGCAGACA	0.393												
ZNHIT6	54680	broad.mit.edu	37	1	86173881	86173881	+	Silent	SNP	G	G	A	rs147426974		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:86173881G>A	uc001dlh.2	-	1	221	c.87C>T	c.(85-87)GGC>GGT	p.G29G	ZNHIT6_uc010osc.1_Silent_p.G29G	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	zinc finger, HIT type 6	29					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			large_intestine(1)	1						CTCCCTCCCTGCCAGGCTCTG	0.597												
COL24A1	255631	broad.mit.edu	37	1	86203186	86203186	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:86203186T>G	uc001dlj.2	-	58	4717	c.4675A>C	c.(4675-4677)AAA>CAA	p.K1559Q	COL24A1_uc001dli.2_Missense_Mutation_p.K674Q|COL24A1_uc010osd.1_Missense_Mutation_p.K859Q|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_Intron	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	1559	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATCCAGTATTTTCCTAATAAT	0.284												
CLCA2	9635	broad.mit.edu	37	1	86920993	86920993	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:86920993A>G	uc001dlr.3	+	14	2777	c.2615A>G	c.(2614-2616)AAC>AGC	p.N872S		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	872	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ATGGATAGGAACTCCTTACAG	0.433												
DNTTIP2	30836	broad.mit.edu	37	1	94342778	94342778	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:94342778T>C	uc001dqf.2	-	2	751	c.713A>G	c.(712-714)GAT>GGT	p.D238G	DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Missense_Mutation_p.D33G	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GGTATCTGAATCCTCTGAATT	0.358												
SLC44A3	126969	broad.mit.edu	37	1	95290148	95290148	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:95290148G>A	uc001dqv.3	+	3	342	c.235G>A	c.(235-237)GTG>ATG	p.V79M	SLC44A3_uc001dqx.3_Missense_Mutation_p.V79M|SLC44A3_uc010otq.1_Missense_Mutation_p.V43M|SLC44A3_uc010otr.1_Missense_Mutation_p.V43M|SLC44A3_uc001dqw.3_Missense_Mutation_p.V31M|SLC44A3_uc010ots.1_Missense_Mutation_p.V31M|SLC44A3_uc009wds.2_Translation_Start_Site|SLC44A3_uc010ott.1_Missense_Mutation_p.V31M|SLC44A3_uc010otu.1_5'Flank	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	79						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GAACTCCCCCGTGGAAGGGGC	0.498												
CNN3	1266	broad.mit.edu	37	1	95363514	95363514	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:95363514C>A	uc010otw.1	-	8	856	c.774G>T	c.(772-774)ATG>ATT	p.M258I	CNN3_uc010otv.1_Missense_Mutation_p.M217I|CNN3_uc001dqz.3_Missense_Mutation_p.M258I|CNN3_uc010otx.1_Missense_Mutation_p.M212I	NM_001839	NP_001830	Q15417	CNN3_HUMAN	calponin 3	258	Calponin-like 3.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CATACACACTCATTCCTTTCT	0.463												
LPPR4	9890	broad.mit.edu	37	1	99764768	99764768	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:99764768C>T	uc001dse.2	+	4	822	c.716C>T	c.(715-717)ACA>ATA	p.T239I	LPPR4_uc010oue.1_Missense_Mutation_p.T239I	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	239							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCTGACCTCACAGTTATCAAC	0.378												
OLFM3	118427	broad.mit.edu	37	1	102269822	102269822	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:102269822T>C	uc001duf.2	-	6	1480	c.1409A>G	c.(1408-1410)CAT>CGT	p.H470R	OLFM3_uc001dug.2_Missense_Mutation_p.H450R|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.H375R|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	470	Olfactomedin-like.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CTTGATGATATGGAAAAGGGT	0.403												
COL11A1	1301	broad.mit.edu	37	1	103427801	103427801	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:103427801A>G	uc001dul.2	-	40	3363	c.3045T>C	c.(3043-3045)GGT>GGC	p.G1015G	COL11A1_uc001duk.2_Silent_p.G211G|COL11A1_uc001dum.2_Silent_p.G1027G|COL11A1_uc001dun.2_Silent_p.G976G|COL11A1_uc009weh.2_Silent_p.G899G	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1015	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)		TCCCTGAGATACCTTGAGGAC	0.383												
SORT1	6272	broad.mit.edu	37	1	109897121	109897121	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:109897121A>G	uc001dxm.1	-	5	625	c.576T>C	c.(574-576)AGT>AGC	p.S192S	SORT1_uc010ovi.1_Silent_p.S56S|SORT1_uc009wfb.2_Silent_p.S56S	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	192	Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTCCTCCACGACTTCCTCCAG	0.428												
AMPD2	271	broad.mit.edu	37	1	110172534	110172534	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:110172534G>A	uc009wfh.1	+	16	2683	c.2141G>A	c.(2140-2142)CGC>CAC	p.R714H	AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.R633H|AMPD2_uc001dyc.1_Missense_Mutation_p.R714H|AMPD2_uc010ovr.1_Missense_Mutation_p.R639H|AMPD2_uc001dyd.1_Missense_Mutation_p.R595H|AMPD2_uc001dye.1_Intron	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	714					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)		CTCCTTCTGCGCAAGGTCAGG	0.607												
KCNC4	3749	broad.mit.edu	37	1	110754481	110754481	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:110754481C>T	uc001dzh.2	+	1	417	c.360C>T	c.(358-360)GAC>GAT	p.D120D	KCNC4_uc001dzf.2_Silent_p.D120D|KCNC4_uc009wfr.2_Silent_p.D120D|KCNC4_uc001dzg.2_Silent_p.D120D|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	120	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCCCGCGGACGTGTGCGGGC	0.592												
WNT2B	7482	broad.mit.edu	37	1	113058867	113058867	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:113058867C>T	uc001ecb.2	+	3	1024	c.509C>T	c.(508-510)CCC>CTC	p.P170L	WNT2B_uc001eca.2_Missense_Mutation_p.P151L|WNT2B_uc009wgg.2_Missense_Mutation_p.P78L	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	170					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTGTGACCCCTACACCCGT	0.577												
PHTF1	10745	broad.mit.edu	37	1	114267508	114267508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:114267508G>A	uc009wgp.1	-	6	948	c.496C>T	c.(496-498)CGA>TGA	p.R166*	PHTF1_uc001edn.2_Nonsense_Mutation_p.R166*|PHTF1_uc010own.1_Nonsense_Mutation_p.R166*	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	166						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGTTTTTCGTAATTTTCTA	0.323												
BCL2L15	440603	broad.mit.edu	37	1	114424449	114424449	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:114424449A>G	uc001edw.2	-	3	592	c.420T>C	c.(418-420)GGT>GGC	p.G140G	uc001edv.1_Intron|BCL2L15_uc001edx.2_Intron|BCL2L15_uc001edy.2_Intron|BCL2L15_uc001edz.1_RNA	NM_001010922	NP_001010922	Q5TBC7	B2L15_HUMAN	pro-apoptotic Bcl-2 protein	140					apoptosis					ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATTGATCATACCCGTCATGG	0.502												
CD58	965	broad.mit.edu	37	1	117064526	117064526	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:117064526A>G	uc001egm.2	-	4	827	c.706_splice	c.e4+1	p.G236_splice	CD58_uc001egn.2_Splice_Site|CD58_uc010owy.1_Splice_Site_p.G236_splice|CD58_uc001ego.1_Splice_Site|CD58_uc001egp.3_Silent_p.G236G	NM_001779	NP_001770	P19256	LFA3_HUMAN	CD58 molecule isoform 1						blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding				0	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		AAGCATACATACCATTCATAT	0.279												
CD2	914	broad.mit.edu	37	1	117307144	117307144	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:117307144G>A	uc001egu.3	+	4	681	c.652G>A	c.(652-654)GGA>AGA	p.G218R	CD2_uc010owz.1_Missense_Mutation_p.G218R|CD2_uc010oxa.1_Silent_p.V160V	NM_001767	NP_001758	P06729	CD2_HUMAN	CD2 molecule precursor	218	Helical; (Potential).				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			breast(1)	1	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TGGCATATGTGGAGGAGGCAG	0.498												
WDR3	10885	broad.mit.edu	37	1	118475968	118475968	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:118475968G>A	uc010oxe.1	+	2	92	c.26G>A	c.(25-27)CGC>CAC	p.R9H	WDR3_uc001ehi.2_RNA|WDR3_uc001ehh.2_5'UTR	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	9						nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAGTACCTACGCTATGTTGCT	0.468												
NOTCH2	4853	broad.mit.edu	37	1	120462204	120462204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:120462204G>A	uc001eik.2	-	31	5768	c.5512C>T	c.(5512-5514)CGA>TGA	p.R1838*		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1838	Cytoplasmic (Potential).|ANK 1.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCCTCCTCGGAGAGAAGCC	0.478			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
PDE4DIP	9659	broad.mit.edu	37	1	145075825	145075825	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:145075825C>T	uc001emh.2	-	1	255	c.38G>A	c.(37-39)CGA>CAA	p.R13Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.R13Q|PDE4DIP_uc001emk.2_Missense_Mutation_p.R13Q	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:Variant_position_missing_in_Q5VU43_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAAGTCGCATCGGCGGCGGCA	0.662			T	PDGFRB	MPD							
ANKRD34A	284615	broad.mit.edu	37	1	145473843	145473843	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:145473843C>T	uc001enq.1	+	4	1808	c.515C>T	c.(514-516)GCT>GTT	p.A172V	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	172											0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGACCCTGCTCCCGCCTCT	0.627												
PEX11B	8799	broad.mit.edu	37	1	145522811	145522811	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:145522811A>G	uc001eny.1	+	4	690	c.672A>G	c.(670-672)AAA>AAG	p.K224K	NBPF10_uc001emp.3_Intron|PEX11B_uc010oyu.1_Silent_p.K210K|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.2_5'Flank|ITGA10_uc010oyv.1_5'Flank|ITGA10_uc009wiw.2_5'Flank	NM_003846	NP_003837	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	224	Interaction with PEX19 and peroxisome targeting.				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCTGGACAAACTAGGCCTCT	0.557												
BCL9	607	broad.mit.edu	37	1	147091072	147091072	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:147091072C>T	uc001epq.2	+	8	1851	c.1111C>T	c.(1111-1113)CGC>TGC	p.R371C	BCL9_uc010ozr.1_Missense_Mutation_p.R297C	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	371	CTNNB1-binding.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					AGATATCCAGCGCATGCTTTT	0.547			T	IGH@|IGL@	B-ALL							
BCL9	607	broad.mit.edu	37	1	147094164	147094164	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:147094164C>T	uc001epq.2	+	9	3735	c.2995C>T	c.(2995-2997)CCA>TCA	p.P999S	BCL9_uc010ozr.1_Missense_Mutation_p.P925S	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	999	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					GCCTCCAGAGCCAACCCTTTC	0.512			T	IGH@|IGL@	B-ALL							
BCL9	607	broad.mit.edu	37	1	147094247	147094247	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:147094247T>C	uc001epq.2	+	9	3818	c.3078T>C	c.(3076-3078)CAT>CAC	p.H1026H	BCL9_uc010ozr.1_Silent_p.H952H	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1026	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CGTTATACCATGATGCTATCA	0.478			T	IGH@|IGL@	B-ALL							
TARS2	80222	broad.mit.edu	37	1	150477205	150477205	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:150477205A>G	uc001euq.2	+	15	1823	c.1816A>G	c.(1816-1818)AAA>GAA	p.K606E	TARS2_uc001eur.2_Missense_Mutation_p.K524E|TARS2_uc009wlt.2_Missense_Mutation_p.K232E|TARS2_uc009wls.2_Missense_Mutation_p.K476E	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	606					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTGCGGGGGGAAATGGTGAGA	0.567												
ARNT	405	broad.mit.edu	37	1	150789854	150789854	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:150789854T>C	uc001evr.1	-	16	1704	c.1561A>G	c.(1561-1563)AGC>GGC	p.S521G	ARNT_uc010pck.1_Missense_Mutation_p.S10G|ARNT_uc001evs.1_Missense_Mutation_p.S506G|ARNT_uc009wmb.1_Missense_Mutation_p.S507G|ARNT_uc009wmc.1_Missense_Mutation_p.S521G|ARNT_uc009wmd.1_Missense_Mutation_p.S506G	NM_001668	NP_001659	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	521					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			skin(4)|lung(3)|central_nervous_system(1)|kidney(1)	9	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGATTGTAGCTGGCCAGTCCA	0.423			T	ETV6	AML							
SETDB1	9869	broad.mit.edu	37	1	150933321	150933321	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:150933321G>A	uc001evu.2	+	16	2973	c.2783G>A	c.(2782-2784)CGG>CAG	p.R928Q	SETDB1_uc001evv.2_Missense_Mutation_p.R928Q|SETDB1_uc009wmg.1_Missense_Mutation_p.R928Q	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	928	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATGCTACCCGGAGGCAGACC	0.542												
FAM63A	55793	broad.mit.edu	37	1	150970742	150970742	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:150970742A>G	uc001ewf.2	-	9	2673	c.989T>C	c.(988-990)TTA>TCA	p.L330S	FAM63A_uc001ewc.2_Missense_Mutation_p.L188S|FAM63A_uc010pcm.1_Missense_Mutation_p.L235S|FAM63A_uc001ewd.2_Missense_Mutation_p.L188S|FAM63A_uc001ewe.2_Missense_Mutation_p.L164S|FAM63A_uc010pcn.1_Missense_Mutation_p.L378S|FAM63A_uc001ewg.2_Missense_Mutation_p.L330S	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	330							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGTAGGTATAAGTGACTCTA	0.483												
FAM63A	55793	broad.mit.edu	37	1	150973770	150973770	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:150973770T>C	uc001ewf.2	-	5	2216	c.532A>G	c.(532-534)AAG>GAG	p.K178E	FAM63A_uc001ewc.2_Missense_Mutation_p.K36E|FAM63A_uc010pcm.1_Missense_Mutation_p.K83E|FAM63A_uc001ewd.2_Missense_Mutation_p.K36E|FAM63A_uc001ewe.2_Missense_Mutation_p.K12E|FAM63A_uc010pcn.1_Missense_Mutation_p.K226E|FAM63A_uc001ewg.2_Missense_Mutation_p.K178E	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	178							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTGGGGCTTGATGGACAGG	0.512												
ZNF687	57592	broad.mit.edu	37	1	151259208	151259208	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:151259208C>T	uc001exq.2	+	2	539	c.441C>T	c.(439-441)GGC>GGT	p.G147G	ZNF687_uc001exp.1_Silent_p.G156G|ZNF687_uc009wmo.2_Silent_p.G147G|ZNF687_uc009wmp.2_Silent_p.G147G	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	147	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGTGGGGGCACCTGGAAAG	0.582												
PI4KB	5298	broad.mit.edu	37	1	151278691	151278691	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:151278691C>T	uc001ext.2	-	5	1746	c.1331G>A	c.(1330-1332)GGC>GAC	p.G444D	PI4KB_uc001exr.2_Missense_Mutation_p.G456D|PI4KB_uc001exs.2_Missense_Mutation_p.G429D|PI4KB_uc001exu.2_Missense_Mutation_p.G429D|PI4KB_uc010pcw.1_Missense_Mutation_p.G112D	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	444					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGAAGCTGCCAGCTCGCTG	0.572												
TDRKH	11022	broad.mit.edu	37	1	151748697	151748697	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:151748697T>C	uc009wnb.1	-	8	1274	c.1092A>G	c.(1090-1092)TTA>TTG	p.L364L	TDRKH_uc001eyy.2_Silent_p.L140L|TDRKH_uc001ezb.3_Silent_p.L360L|TDRKH_uc001ezc.3_Silent_p.L319L|TDRKH_uc001eza.3_Silent_p.L364L|TDRKH_uc001ezd.3_Silent_p.L364L|TDRKH_uc010pdn.1_Silent_p.L140L	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing isoform a	364	Tudor.						RNA binding			ovary(1)|pancreas(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CATTTGTAGGTAAAGGTGCTG	0.488												
TCHH	7062	broad.mit.edu	37	1	152084132	152084132	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152084132G>A	uc001ezp.2	-	2	1561	c.1561C>T	c.(1561-1563)CGC>TGC	p.R521C	TCHH_uc009wne.1_Missense_Mutation_p.R521C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	521	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTGGCGCTTCAGCCGC	0.652												
RPTN	126638	broad.mit.edu	37	1	152128685	152128685	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152128685T>C	uc001ezs.1	-	3	955	c.890A>G	c.(889-891)CAG>CGG	p.Q297R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	297	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0						TCTGTCCGTCTGACCGTAGTG	0.512												
HRNR	388697	broad.mit.edu	37	1	152191418	152191418	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152191418C>T	uc001ezt.1	-	3	2763	c.2687G>A	c.(2686-2688)CGT>CAT	p.R896H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	896	10.				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)			CCCAGACCCACGCTGGCCGTG	0.647												
HRNR	388697	broad.mit.edu	37	1	152193216	152193216	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152193216C>T	uc001ezt.1	-	3	965	c.889G>A	c.(889-891)GGC>AGC	p.G297S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	297	3.				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)			CCTTGTCGGCCGTGGCCCAAA	0.607												
HRNR	388697	broad.mit.edu	37	1	152193811	152193811	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152193811C>T	uc001ezt.1	-	3	370	c.294G>A	c.(292-294)GGG>GGA	p.G98G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	98	1.				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)			TCAGCTTTGACCCTGAAACTT	0.388												
FLG	2312	broad.mit.edu	37	1	152284603	152284603	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152284603G>A	uc001ezu.1	-	3	2795	c.2759C>T	c.(2758-2760)GCC>GTC	p.A920V	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	920	Ser-rich.|Filaggrin 5.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGATGTCGGCATGAGAGGA	0.552									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152285135	152285135	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152285135T>C	uc001ezu.1	-	3	2263	c.2227A>G	c.(2227-2229)AGT>GGT	p.S743G	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	743	Filaggrin 4.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTACCACTGGACCCTCGG	0.582									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152285248	152285248	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152285248C>T	uc001ezu.1	-	3	2150	c.2114G>A	c.(2113-2115)GGA>GAA	p.G705E	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	705	Filaggrin 4.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCTTTCTCCTGCACTTGA	0.547									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152287065	152287065	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152287065G>A	uc001ezu.1	-	3	333	c.297C>T	c.(295-297)CAC>CAT	p.H99H	uc001ezv.2_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	99					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGTGCTTGTGTCCTGATA	0.353									Ichthyosis			
CRNN	49860	broad.mit.edu	37	1	152382565	152382565	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152382565G>A	uc001ezx.2	-	3	1067	c.993C>T	c.(991-993)CAC>CAT	p.H331H		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	331	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTTGACCGTGGATCTCAG	0.602												
CRNN	49860	broad.mit.edu	37	1	152382714	152382714	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152382714C>A	uc001ezx.2	-	3	918	c.844G>T	c.(844-846)GTG>TTG	p.V282L		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	282	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTGTCACAGCCTGGCTG	0.607												
LCE1E	353135	broad.mit.edu	37	1	152759923	152759923	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152759923G>T	uc001fan.2	+	2	201	c.148G>T	c.(148-150)GGC>TGC	p.G50C		NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	50	Cys-rich.				keratinization						0	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;0.206)			CAGCTCCGGAGGCTGCTGTGG	0.582												
IVL	3713	broad.mit.edu	37	1	152883824	152883824	+	Silent	SNP	C	C	T	rs140811437		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:152883824C>T	uc001fau.2	+	2	1597	c.1551C>T	c.(1549-1551)GAC>GAT	p.D517D		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	517	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|37.				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)			agcagcaggacggacaactaa	0.174												
S100A3	6274	broad.mit.edu	37	1	153520867	153520867	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:153520867G>A	uc001fca.1	-	2	178	c.95C>T	c.(94-96)GCG>GTG	p.A32V	S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank|uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	S100 calcium binding protein A3	32	1; low affinity (Potential).|EF-hand 1.						calcium ion binding|protein binding				0	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTGAGCTCCGCCTGGCAGAG	0.647												
INTS3	65123	broad.mit.edu	37	1	153736608	153736608	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:153736608G>A	uc009wom.2	+	19	2057	c.1836G>A	c.(1834-1836)TCG>TCA	p.S612S	INTS3_uc001fct.2_Silent_p.S612S|INTS3_uc001fcu.2_Silent_p.S304S|INTS3_uc001fcv.2_Silent_p.S406S|INTS3_uc010peb.1_Silent_p.S406S|INTS3_uc001fcw.2_Silent_p.S125S|INTS3_uc010pec.1_Silent_p.S125S|INTS3_uc001fcy.2_5'Flank|INTS3_uc001fcx.2_5'Flank	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	613					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTTTGACTCGGAGCAGCTGT	0.562												
RAB13	5872	broad.mit.edu	37	1	153955700	153955700	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:153955700T>C	uc001fdt.1	-	4	413	c.319A>G	c.(319-321)AAG>GAG	p.K107E	RAB13_uc001fdu.1_3'UTR	NM_002870	NP_002861	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	107					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCACCTCCTTGATGCTTTTC	0.423												
NUP210L	91181	broad.mit.edu	37	1	154027309	154027309	+	Splice_Site	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:154027309C>T	uc001fdw.2	-	24	3313	c.3241_splice	c.e24-1	p.V1081_splice	NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Splice_Site_p.V1081_splice	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1							integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAGGAAACACCTTGAAGGAGA	0.289												
NUP210L	91181	broad.mit.edu	37	1	154113971	154113971	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:154113971T>C	uc001fdw.2	-	4	574	c.502A>G	c.(502-504)ATG>GTG	p.M168V	NUP210L_uc010peh.1_Missense_Mutation_p.M168V	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	168						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CACTCAAACATCATCCCTGCC	0.373												
IL6R	3570	broad.mit.edu	37	1	154401816	154401816	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:154401816T>C	uc001fez.1	+	2	667	c.230T>C	c.(229-231)ATG>ACG	p.M77T	IL6R_uc001ffa.1_Missense_Mutation_p.M77T	NM_000565	NP_000556	P08887	IL6RA_HUMAN	interleukin 6 receptor isoform 1 precursor	77	Extracellular (Potential).|Ig-like C2-type.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity			ovary(3)|breast(1)	4	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGCTGGCATGGGAAGGAGG	0.642												
DCST1	149095	broad.mit.edu	37	1	155018875	155018875	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:155018875C>G	uc001fgn.1	+	13	1504	c.1408C>G	c.(1408-1410)CTG>GTG	p.L470V	DCST1_uc010per.1_Missense_Mutation_p.L495V|DCST1_uc010pes.1_Missense_Mutation_p.L445V|uc001fgo.2_Intron	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1 isoform 1	470	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)|skin(1)	2	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCTGCTGCTGCTGGTGGTGCT	0.627												
TRIM46	80128	broad.mit.edu	37	1	155149471	155149471	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:155149471G>T	uc001fhs.1	+	4	816	c.733G>T	c.(733-735)GTA>TTA	p.V245L	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.V232L|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.V245L|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.V119L|TRIM46_uc001fhu.1_Missense_Mutation_p.V222L|TRIM46_uc009wpg.1_Missense_Mutation_p.V232L|TRIM46_uc001fhv.3_Missense_Mutation_p.V232L|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	245	B box-type.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCAACGCCTGGTATGTCAACT	0.567											OREG0013855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TRIM46	80128	broad.mit.edu	37	1	155156381	155156381	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:155156381G>A	uc001fhs.1	+	10	2078	c.1995G>A	c.(1993-1995)TCG>TCA	p.S665S	RAG1AP1_uc010pey.1_Intron|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Silent_p.S539S|TRIM46_uc001fhu.1_Silent_p.S642S|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	665	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGCTGGGGTCGGGGGCAAGCT	0.672												
ASH1L	55870	broad.mit.edu	37	1	155322513	155322513	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:155322513A>G	uc009wqq.2	-	17	7845	c.7365T>C	c.(7363-7365)GGT>GGC	p.G2455G	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Silent_p.G2450G	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2455					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAGAGATGATACCATCACAAA	0.328												
MEX3A	92312	broad.mit.edu	37	1	156047288	156047288	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:156047288A>G	uc001fnd.3	-	2	640	c.640T>C	c.(640-642)TTT>CTT	p.F214L		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	214						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCACACCAAAGGCGGCGCCT	0.672												
IQGAP3	128239	broad.mit.edu	37	1	156539249	156539249	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:156539249C>T	uc001fpf.2	-	2	119	c.44G>A	c.(43-45)CGC>CAC	p.R15H	IQGAP3_uc009wsb.1_Intron	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	15					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCTGTGAGGCGTTCATCTGA	0.468												
C1orf66	51093	broad.mit.edu	37	1	156702119	156702119	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:156702119G>A	uc001fpu.2	+	3	917	c.283G>A	c.(283-285)GCG>ACG	p.A95T	C1orf66_uc001fpv.2_Missense_Mutation_p.A95T	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	hypothetical protein LOC51093 isoform 1	95						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAAGTCCACGGCGTGTGCCCT	0.592												
SH2D2A	9047	broad.mit.edu	37	1	156779586	156779586	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:156779586G>A	uc001fqd.2	-	6	721	c.581C>T	c.(580-582)GCA>GTA	p.A194V	SH2D2A_uc001fqc.1_Missense_Mutation_p.A166V|SH2D2A_uc009wsh.2_Missense_Mutation_p.A204V|SH2D2A_uc001fqe.2_Missense_Mutation_p.A176V|SH2D2A_uc010phs.1_Missense_Mutation_p.A194V	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	194	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGAAAGTCCTGCAGGCTCAGG	0.547												
IFI16	3428	broad.mit.edu	37	1	159021716	159021716	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:159021716G>A	uc001ftg.2	+	9	2035	c.1745G>A	c.(1744-1746)CGC>CAC	p.R582H	IFI16_uc010pis.1_Missense_Mutation_p.R582H|IFI16_uc001fth.2_Missense_Mutation_p.R125H|IFI16_uc010pit.1_Missense_Mutation_p.R181H	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	638	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					TATGTTTGCCGCAATGGGTTC	0.428												
CADM3	57863	broad.mit.edu	37	1	159162508	159162508	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:159162508G>A	uc001ftl.2	+	3	512	c.370G>A	c.(370-372)GTC>ATC	p.V124I	CADM3_uc009wsx.1_Missense_Mutation_p.V158I|CADM3_uc009wsy.1_Missense_Mutation_p.V124I|CADM3_uc001ftk.2_Missense_Mutation_p.V158I	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	124	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					CAAGTCCCTCGTCACTGTGCT	0.567												
OR10J1	26476	broad.mit.edu	37	1	159409818	159409818	+	Silent	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:159409818A>C	uc010piv.1	+	1	270	c.270A>C	c.(268-270)CCA>CCC	p.P90P	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	90	Extracellular (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					TCATTCTCCCAAGAATGCTCT	0.463												
CRP	1401	broad.mit.edu	37	1	159683390	159683390	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:159683390A>G	uc001ftw.2	-	2	704	c.600T>C	c.(598-600)CCT>CCC	p.P200P	CRP_uc001ftx.1_Silent_p.P67P|CRP_uc001fty.1_RNA	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	200	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TCAGGACATTAGGACTGAAGG	0.542												
CRP	1401	broad.mit.edu	37	1	159684248	159684248	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:159684248A>G	uc001ftw.2	-	1	132	c.28T>C	c.(28-30)TTG>CTG	p.L10L	CRP_uc001ftx.1_Silent_p.L10L|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related precursor	10					acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AGGCTGGTCAAGACCAAGAAA	0.507												
CCDC19	25790	broad.mit.edu	37	1	159842807	159842807	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:159842807G>A	uc001fui.2	-	11	1522	c.1504C>T	c.(1504-1506)CGC>TGC	p.R502C	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R417C|CCDC19_uc001ful.2_Missense_Mutation_p.R417C	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	502	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTTTGAGGCGCCGGCCCTCC	0.587												
KCNJ10	3766	broad.mit.edu	37	1	160011752	160011752	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:160011752T>C	uc001fuw.1	-	2	721	c.571A>G	c.(571-573)AAT>GAT	p.N191D		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	191	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCTTGCCATTGTGGGAGGCC	0.547												
IGSF8	93185	broad.mit.edu	37	1	160062116	160062116	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:160062116C>T	uc001fva.2	-	5	1727	c.1682G>A	c.(1681-1683)GGC>GAC	p.G561D	IGSF8_uc001fuz.2_Missense_Mutation_p.G561D|IGSF8_uc009wtf.2_Missense_Mutation_p.G561D	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	561	Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCGGGCACTGCCCGCCTGGTA	0.642												
IGSF8	93185	broad.mit.edu	37	1	160062786	160062786	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:160062786C>A	uc001fva.2	-	4	1285	c.1240G>T	c.(1240-1242)GGG>TGG	p.G414W	IGSF8_uc001fuz.2_Missense_Mutation_p.G414W|IGSF8_uc009wtf.2_Missense_Mutation_p.G414W	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	414	Ig-like C2-type 3.|Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTCCCAGACCCTCGAACATAG	0.657												
ATP1A4	480	broad.mit.edu	37	1	160141449	160141449	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:160141449A>G	uc001fve.3	+	12	2235	c.1756A>G	c.(1756-1758)ATG>GTG	p.M586V	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.M89V	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	586	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAATTTCCCCATGGACAACCT	0.493												
DCAF8	50717	broad.mit.edu	37	1	160249918	160249918	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:160249918G>A	uc010pjc.1	-	4	544	c.272C>T	c.(271-273)ACA>ATA	p.T91I	PEX19_uc010pje.1_RNA|PEX19_uc001fvs.2_Missense_Mutation_p.T238I|PEX19_uc001fvt.2_Missense_Mutation_p.T148I	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	Error:Variant_position_missing_in_Q5TAQ9_after_alignment						CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2						TTCACTGTCTGTGGGGGTCTC	0.498												
NCSTN	23385	broad.mit.edu	37	1	160319417	160319417	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:160319417C>A	uc001fvx.2	+	4	517	c.393C>A	c.(391-393)GCC>GCA	p.A131A	NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Silent_p.A111A|NCSTN_uc010pjf.1_Silent_p.A131A|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	131	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGTCCTGCCTCAGGCTTCT	0.502												
F11R	50848	broad.mit.edu	37	1	160970515	160970515	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:160970515G>A	uc009wtt.2	-	4	564	c.294C>T	c.(292-294)TCC>TCT	p.S98S	F11R_uc010pjv.1_Intron|F11R_uc001fxe.3_Silent_p.S98S|F11R_uc009wtu.2_Silent_p.S98S|F11R_uc010pjw.1_Silent_p.S102S|F11R_uc001fxf.3_Silent_p.S98S	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	F11 receptor precursor	98	Extracellular (Potential).|Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				ovary(2)	2	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CCCGTGTCACGGACTTGAAGG	0.532												
NIT1	4817	broad.mit.edu	37	1	161090509	161090509	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:161090509A>G	uc001fxv.1	+	7	1014	c.938A>G	c.(937-939)CAC>CGC	p.H313R	PFDN2_uc001fxu.2_5'Flank|NIT1_uc001fxw.2_Intron|NIT1_uc001fxx.1_Missense_Mutation_p.H277R|NIT1_uc001fxy.1_Missense_Mutation_p.H277R|NIT1_uc010pka.1_Missense_Mutation_p.H298R	NM_005600	NP_005591	Q86X76	NIT1_HUMAN	nitrilase 1	313	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity				0	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTGTTCCAGCACCGCAGGCCT	0.597												
ADAMTS4	9507	broad.mit.edu	37	1	161165362	161165362	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:161165362C>T	uc001fyt.3	-	4	1582	c.1154G>A	c.(1153-1155)AGC>AAC	p.S385N		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	385	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCGAGAGGTGCTCAAAGGCCC	0.557												
NR1I3	9970	broad.mit.edu	37	1	161202682	161202682	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:161202682G>A	uc001fzx.2	-	5	666	c.463C>T	c.(463-465)CTG>TTG	p.L155L	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Silent_p.L155L|NR1I3_uc001fzg.2_Silent_p.L126L|NR1I3_uc001fzh.2_Silent_p.L126L|NR1I3_uc001fzi.2_Silent_p.L126L|NR1I3_uc001fzj.2_Silent_p.L126L|NR1I3_uc001fzk.2_Silent_p.L126L|NR1I3_uc001fzl.2_Silent_p.L126L|NR1I3_uc001fzm.2_Silent_p.L80L|NR1I3_uc001fzn.2_5'UTR|NR1I3_uc009wug.2_5'UTR|NR1I3_uc001fzp.2_Silent_p.L155L|NR1I3_uc001fzo.2_5'UTR|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_5'UTR|NR1I3_uc001fzt.2_5'UTR|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Silent_p.L155L|NR1I3_uc001fzy.2_Silent_p.L155L|NR1I3_uc001fzz.2_Silent_p.L155L|NR1I3_uc001gaa.2_Silent_p.L155L|NR1I3_uc001gab.2_Silent_p.L155L|NR1I3_uc001gac.2_Silent_p.L126L|NR1I3_uc010pkm.1_Silent_p.L126L|NR1I3_uc010pkn.1_Silent_p.L155L	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	155					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCAGAGGCAGCACAGGGGCC	0.557												
FCRLA	84824	broad.mit.edu	37	1	161681812	161681812	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:161681812G>A	uc001gbe.2	+	5	899	c.657G>A	c.(655-657)TTG>TTA	p.L219L	FCRLA_uc001gbd.2_Silent_p.L213L|FCRLA_uc001gbf.2_Silent_p.L124L|FCRLA_uc001gbg.2_Silent_p.L73L|FCRLA_uc009wuo.2_Silent_p.L79L|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	196	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			AGACAAAGTTGCCCCTGCAGA	0.547												
OLFML2B	25903	broad.mit.edu	37	1	161969963	161969963	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:161969963G>T	uc001gbu.2	-	5	1313	c.889C>A	c.(889-891)CGG>AGG	p.R297R	OLFML2B_uc010pkq.1_Silent_p.R298R	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	297										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGATGCCCCGGATGACAGTG	0.627												
HSD17B7	51478	broad.mit.edu	37	1	162773258	162773258	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:162773258T>C	uc001gci.2	+	6	775	c.680T>C	c.(679-681)TTG>TCG	p.L227S	HSD17B7_uc009wuv.2_RNA	NM_016371	NP_057455	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	227	Extracellular (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			ovary(1)	1	all_hematologic(112;0.115)				NADH(DB00157)	GGTACAGCATTGACCAATTTG	0.418												
RGS4	5999	broad.mit.edu	37	1	163043395	163043395	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:163043395G>A	uc009wuy.2	+	4	872	c.361G>A	c.(361-363)GTC>ATC	p.V121I	RGS4_uc001gcl.3_Missense_Mutation_p.V218I|RGS4_uc009wuz.2_Intron|RGS4_uc009wva.2_Missense_Mutation_p.V103I	NM_005613	NP_005604	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 2	121	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						ATTCATCTCAGTCCAGGCAAC	0.239												
RGS4	5999	broad.mit.edu	37	1	163044171	163044171	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:163044171A>G	uc009wuy.2	+	5	950	c.439A>G	c.(439-441)ACC>GCC	p.T147A	RGS4_uc001gcl.3_Missense_Mutation_p.T244A|RGS4_uc009wuz.2_Missense_Mutation_p.N91S|RGS4_uc009wva.2_Missense_Mutation_p.T129A	NM_005613	NP_005604	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 2	147	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						GCCTACAATAACCTGCTTTGA	0.493												
PBX1	5087	broad.mit.edu	37	1	164761864	164761864	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:164761864G>A	uc001gct.2	+	3	657	c.399G>A	c.(397-399)GCG>GCA	p.A133A	PBX1_uc010pku.1_Silent_p.A133A|PBX1_uc010pkv.1_Silent_p.A50A|PBX1_uc001gcs.2_Silent_p.A133A|PBX1_uc010pkw.1_Silent_p.A23A	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	133	Poly-Ala.				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	soft_tissue(3)|lung(1)|skin(1)	5						cggcagcggcggcggcTTCTG	0.488			T	TCF3|EWSR1	pre B-ALL|myoepithelioma							
LMX1A	4009	broad.mit.edu	37	1	165324849	165324849	+	Translation_Start_Site	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:165324849G>A	uc001gcy.1	-	1	169	c.-52C>T	c.(-54--50)GACGT>GATGT		LMX1A_uc001gcz.1_Intron	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					TGCGTCTGACGTCCGTGCCCG	0.627												
ADCY10	55811	broad.mit.edu	37	1	167863157	167863157	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:167863157C>T	uc001ger.2	-	8	1060	c.762G>A	c.(760-762)ACG>ACA	p.T254T	ADCY10_uc009wvk.2_Silent_p.T162T|ADCY10_uc010plj.1_Silent_p.T101T|ADCY10_uc009wvl.2_Silent_p.T253T|ADCY10_uc009wvm.2_RNA	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	254					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						CAGGCTTCAGCGTGCATGCAA	0.493												
TBX19	9095	broad.mit.edu	37	1	168278092	168278092	+	Silent	SNP	C	C	T	rs141608452		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:168278092C>T	uc001gfl.2	+	7	1080	c.1029C>T	c.(1027-1029)AAC>AAT	p.N343N	TBX19_uc001gfj.3_Silent_p.N211N|TBX19_uc001gfm.2_Silent_p.N46N	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	343					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					CCCACACCAACGGACCAATCA	0.507												
F5	2153	broad.mit.edu	37	1	169511145	169511145	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:169511145T>G	uc001ggg.1	-	13	3328	c.3183A>C	c.(3181-3183)GAA>GAC	p.E1061D		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1061	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TAAGTCTTCTTTCTGAAAATG	0.418												
SELE	6401	broad.mit.edu	37	1	169696559	169696559	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:169696559G>A	uc001ggm.3	-	10	1733	c.1576C>T	c.(1576-1578)CTC>TTC	p.L526F	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	526	Extracellular (Potential).|Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					GAGCCATTGAGCGTCCATCCT	0.552												
C1orf112	55732	broad.mit.edu	37	1	169790902	169790902	+	Splice_Site	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:169790902T>C	uc001ggp.2	+	10	1093	c.783_splice	c.e10+2	p.K261_splice	C1orf112_uc001ggj.2_Splice_Site|C1orf112_uc001ggq.2_Splice_Site_p.K261_splice|C1orf112_uc009wvt.2_Splice_Site|C1orf112_uc010plu.1_Splice_Site_p.K232_splice|C1orf112_uc009wvu.1_Intron|C1orf112_uc001ggr.2_Splice_Site_p.K126_splice|C1orf112_uc010plv.1_Splice_Site_p.K203_splice	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	hypothetical protein LOC55732												0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					tacgctaaggtaaggctttat	0.149												
KIFAP3	22920	broad.mit.edu	37	1	170004596	170004596	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:170004596T>G	uc001ggv.2	-	6	887	c.616A>C	c.(616-618)AGC>CGC	p.S206R	KIFAP3_uc010ply.1_Missense_Mutation_p.S128R|KIFAP3_uc001ggw.1_Missense_Mutation_p.S162R	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	206					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					tataCTTACCTGGAGAAACAA	0.348												
C1orf129	80133	broad.mit.edu	37	1	170955724	170955724	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:170955724C>A	uc001ghg.2	+	10	882	c.752C>A	c.(751-753)CCT>CAT	p.P251H	C1orf129_uc009wvy.2_Missense_Mutation_p.P58H|C1orf129_uc010plz.1_Missense_Mutation_p.P251H	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	251							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACCTTACTGCCTCCCTTGCTG	0.458												
BAT2L2	23215	broad.mit.edu	37	1	171509123	171509123	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:171509123T>C	uc010pmg.1	+	16	2778	c.2512T>C	c.(2512-2514)TTG>CTG	p.L838L	BAT2L2_uc010pmh.1_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	838							protein C-terminus binding				0						TGAAGCTGCGTTGGACCAGGA	0.383												
C1orf105	92346	broad.mit.edu	37	1	172437657	172437657	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:172437657G>A	uc001gik.2	+	7	671	c.475G>A	c.(475-477)GCC>ACC	p.A159T		NM_139240	NP_640333	O95561	CA105_HUMAN	hypothetical protein LOC92346	159										skin(1)	1						ACTGACAGAGGCCTACAAAAC	0.498												
TNN	63923	broad.mit.edu	37	1	175067636	175067636	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:175067636T>C	uc001gkl.1	+	9	2137	c.2024T>C	c.(2023-2025)CTG>CCG	p.L675P	TNN_uc010pmx.1_Missense_Mutation_p.L586P	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	675	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCACAGTCCTGACAGGCCTG	0.627												
FAM5B	57795	broad.mit.edu	37	1	177250156	177250156	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:177250156G>T	uc001glf.2	+	8	2156	c.1844G>T	c.(1843-1845)AGG>ATG	p.R615M	FAM5B_uc001glg.2_Missense_Mutation_p.R510M	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	615						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GACTGGGAAAGGACTAACGTG	0.532												
FAM20B	9917	broad.mit.edu	37	1	179013231	179013231	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:179013231G>T	uc001gmc.2	+	2	542	c.249G>T	c.(247-249)GAG>GAT	p.E83D		NM_014864	NP_055679	O75063	XYLK_HUMAN	hypothetical protein LOC9917 precursor	83	Lumenal (Potential).					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(3)	3						AGACACCAGAGCTGGGGGCAG	0.537												
LHX4	89884	broad.mit.edu	37	1	180235643	180235643	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:180235643G>A	uc001goe.1	+	3	588	c.365G>A	c.(364-366)CGG>CAG	p.R122Q		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	122	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						ATCTGCAACCGGCAGCTGGCC	0.612												
XPR1	9213	broad.mit.edu	37	1	180849282	180849282	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:180849282C>T	uc001goi.2	+	14	2071	c.1879C>T	c.(1879-1881)CGG>TGG	p.R627W	XPR1_uc009wxn.2_Missense_Mutation_p.R562W	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor	627	EXS.|Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						CCGTGCTGTGCGGGACATCTC	0.498												
STX6	10228	broad.mit.edu	37	1	180974585	180974585	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:180974585G>A	uc010pnq.1	-	2	287	c.50C>T	c.(49-51)GCA>GTA	p.A17V	STX6_uc001goo.2_Missense_Mutation_p.A17V|STX6_uc010pnr.1_Intron	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	17	Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1						AGTGTTGACTGCTTTCTGTAC	0.463												
MR1	3140	broad.mit.edu	37	1	181019368	181019368	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:181019368A>G	uc001goq.1	+	3	555	c.550A>G	c.(550-552)ATT>GTT	p.I184V	MR1_uc001gop.2_Missense_Mutation_p.I184V|MR1_uc001gor.1_Missense_Mutation_p.I139V|MR1_uc001gos.1_Missense_Mutation_p.I184V|MR1_uc010pns.1_Missense_Mutation_p.I184V	NM_001531	NP_001522	Q95460	HMR1_HUMAN	major histocompatibility complex, class	184	Extracellular (Potential).|Ligand-binding.|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			skin(1)	1						AGAAGAATGTATTGCCTGGCT	0.468												
CACNA1E	777	broad.mit.edu	37	1	181690989	181690989	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:181690989T>C	uc001gow.2	+	16	2217	c.2052T>C	c.(2050-2052)ATT>ATC	p.I684I	CACNA1E_uc009wxs.2_Silent_p.I591I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	684	Helical; Name=S6 of repeat II.|II.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TCTACTTCATTGTGCTCACCT	0.532												
CACNA1E	777	broad.mit.edu	37	1	181727162	181727162	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:181727162G>A	uc001gow.2	+	31	4574	c.4409G>A	c.(4408-4410)CGC>CAC	p.R1470H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R1358H|CACNA1E_uc001gox.1_Missense_Mutation_p.R696H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R696H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1470	IV.|Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TTCCAGTACCGCGTGTGGCAC	0.527												
LAMC1	3915	broad.mit.edu	37	1	183072489	183072489	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:183072489C>T	uc001gpy.3	+	2	702	c.445C>T	c.(445-447)CGT>TGT	p.R149C	LAMC1_uc001gpx.2_Missense_Mutation_p.R149C	NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	149	Laminin N-terminal.				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)	CACCTATGTGCGTCTCAAGTT	0.488												
LAMC1	3915	broad.mit.edu	37	1	183094532	183094532	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:183094532C>T	uc001gpy.3	+	15	2905	c.2648C>T	c.(2647-2649)GCC>GTC	p.A883V		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	883	Laminin EGF-like 8.				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)	CCTGCCTTAGCCTGCAATTGC	0.408												
LAMC2	3918	broad.mit.edu	37	1	183195988	183195988	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:183195988G>T	uc001gqa.2	+	9	1536	c.1222G>T	c.(1222-1224)GGG>TGG	p.G408W	LAMC2_uc001gpz.3_Missense_Mutation_p.G408W|LAMC2_uc010poa.1_Missense_Mutation_p.G108W	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	408	Laminin EGF-like 4; second part.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						AGCGAGACTGGGGCCTTTTGG	0.547												
SMG7	9887	broad.mit.edu	37	1	183518986	183518986	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:183518986G>C	uc001gqg.2	+	19	3033	c.2911G>C	c.(2911-2913)GCC>CCC	p.A971P	SMG7_uc001gqf.2_Missense_Mutation_p.A975P|SMG7_uc001gqh.2_Missense_Mutation_p.A925P|SMG7_uc001gqi.2_Missense_Mutation_p.A883P|SMG7_uc010poc.1_Missense_Mutation_p.A979P	NM_173156	NP_775179	Q92540	SMG7_HUMAN	SMG-7 homolog isoform 1	971	Ser-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TCCCTCAATGGCCCCCCAGGA	0.428												
C1orf25	81627	broad.mit.edu	37	1	185125667	185125667	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:185125667C>T	uc001grf.3	-	1	450	c.178G>A	c.(178-180)GCC>ACC	p.A60T	C1orf26_uc001grg.3_5'Flank|C1orf26_uc001grh.3_5'Flank|C1orf25_uc010pon.1_Intron	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	60						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						ggagcctgggccagggcaggg	0.244												
HMCN1	83872	broad.mit.edu	37	1	185959420	185959420	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:185959420G>A	uc001grq.1	+	22	3451	c.3222G>A	c.(3220-3222)GTG>GTA	p.V1074V	HMCN1_uc001grr.1_Silent_p.V415V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1074	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGCCCAGAGTGTTTGGAGATC	0.413												
FAM5C	339479	broad.mit.edu	37	1	190067193	190067193	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:190067193T>G	uc001gse.1	-	8	2488	c.2256A>C	c.(2254-2256)AAA>AAC	p.K752N	FAM5C_uc010pot.1_Missense_Mutation_p.K650N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	752						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TGTTTGGCAATTTGGCATTAA	0.408												
UCHL5	51377	broad.mit.edu	37	1	193018904	193018904	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:193018904C>T	uc001gsm.2	-	3	349	c.218G>A	c.(217-219)CGA>CAA	p.R73Q	UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Missense_Mutation_p.R73Q|UCHL5_uc010pov.1_RNA|UCHL5_uc001gsp.2_Missense_Mutation_p.R73Q|UCHL5_uc001gsq.2_Missense_Mutation_p.R73Q|UCHL5_uc010pow.1_5'UTR|UCHL5_uc010pox.1_Intron	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	73					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|ovary(1)	3						CGTGTCAAGTCGGGAGTCCTG	0.398												
CDC73	79577	broad.mit.edu	37	1	193091428	193091428	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:193091428C>A	uc001gtb.2	+	1	341	c.98C>A	c.(97-99)CCC>CAC	p.P33H		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	33					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.W32fs*1(1)		parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						TTCTCCTGGCCCAAGAATGTG	0.572									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome		OREG0014058	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CFHR5	81494	broad.mit.edu	37	1	196965192	196965192	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:196965192C>T	uc001gts.3	+	6	959	c.831C>T	c.(829-831)TAC>TAT	p.Y277Y		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	277	Sushi 5.		Y -> N (in a patient with atypical hemolytic uremic syndrome).		complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						AACTCGAGTACGGTTATGTTC	0.353												
F13B	2165	broad.mit.edu	37	1	197032137	197032137	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:197032137A>G	uc001gtt.1	-	2	159	c.115T>C	c.(115-117)TAC>CAC	p.Y39H		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	39	Sushi 1.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AAAGTATAGTAATATTGGGCA	0.333												
ASPM	259266	broad.mit.edu	37	1	197073597	197073597	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:197073597T>C	uc001gtu.2	-	18	5041	c.4784A>G	c.(4783-4785)AAA>AGA	p.K1595R	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1595	IQ 3.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTGTTGATGTTTTCTTACATG	0.343												
ASPM	259266	broad.mit.edu	37	1	197101439	197101439	+	Silent	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:197101439A>C	uc001gtu.2	-	7	2720	c.2463T>G	c.(2461-2463)CCT>CCG	p.P821P	ASPM_uc001gtv.2_Silent_p.P821P|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	821					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GAAGCCACAAAGGATTGTAGG	0.308												
ASPM	259266	broad.mit.edu	37	1	197115434	197115434	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:197115434C>T	uc001gtu.2	-	1	391	c.134G>A	c.(133-135)TGC>TAC	p.C45Y	ASPM_uc001gtv.2_Missense_Mutation_p.C45Y|ASPM_uc001gtw.3_5'UTR	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	45					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						AGGAGACCTGCAGAAGTGGCT	0.398												
PTPRC	5788	broad.mit.edu	37	1	198701676	198701676	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:198701676C>T	uc001gur.1	+	20	2307	c.2127C>T	c.(2125-2127)AGC>AGT	p.S709S	PTPRC_uc001gus.1_Silent_p.S661S|PTPRC_uc001gut.1_Silent_p.S548S|PTPRC_uc009wzf.1_Silent_p.S597S|PTPRC_uc010ppg.1_Silent_p.S645S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	709	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						TAAATGCCAGCTATATTGATG	0.284												
KIF21B	23046	broad.mit.edu	37	1	200956152	200956152	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:200956152C>T	uc001gvs.1	-	25	3903	c.3586G>A	c.(3586-3588)GTC>ATC	p.V1196I	KIF21B_uc001gvr.1_Missense_Mutation_p.V1196I|KIF21B_uc009wzl.1_Missense_Mutation_p.V1196I|KIF21B_uc010ppn.1_Missense_Mutation_p.V1196I	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1196					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						GGCAGACTGACGGTGCGCGAG	0.592												
IPO9	55705	broad.mit.edu	37	1	201836035	201836035	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:201836035G>T	uc001gwz.2	+	15	1853	c.1803G>T	c.(1801-1803)ATG>ATT	p.M601I		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	601					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						CAGCAAGCATGGAAAGCAAAA	0.488												
GPR37L1	9283	broad.mit.edu	37	1	202097427	202097427	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:202097427C>A	uc001gxj.2	+	2	1252	c.1189C>A	c.(1189-1191)CTG>ATG	p.L397M		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	397	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						CCTGGACCTCCTGGGCCTCAT	0.622												
SYT2	127833	broad.mit.edu	37	1	202573722	202573722	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:202573722G>A	uc001gye.2	-	3	399	c.206C>T	c.(205-207)GCT>GTT	p.A69V	SYT2_uc010pqb.1_Missense_Mutation_p.A69V|SYT2_uc009xaf.2_Intron	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	69	Helical; (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)	AGCAACCACAGCAATGGCGAT	0.507												
KDM5B	10765	broad.mit.edu	37	1	202711578	202711578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:202711578G>A	uc001gyf.2	-	18	2646	c.2530C>T	c.(2530-2532)CAG>TAG	p.Q844*	KDM5B_uc009xag.2_Nonsense_Mutation_p.Q880*|KDM5B_uc001gyg.1_Nonsense_Mutation_p.Q686*	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	844					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5						GTTACAAACTGCCGGAGCTCA	0.433												
KLHL12	59349	broad.mit.edu	37	1	202862461	202862461	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:202862461G>A	uc001gyo.1	-	11	1686	c.1486C>T	c.(1486-1488)CGC>TGC	p.R496C	KLHL12_uc001gym.1_Intron|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Missense_Mutation_p.R534C|KLHL12_uc009xah.1_Missense_Mutation_p.R395C	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	kelch-like 12	496	Interaction with DVL3.|Kelch 5.				Wnt receptor signaling pathway		protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAATCAGTGCGAATGTTGTAT	0.522												
CYB5R1	51706	broad.mit.edu	37	1	202934505	202934505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:202934505C>A	uc001gyt.2	-	5	540	c.469G>T	c.(469-471)GGA>TGA	p.G157*	CYB5R1_uc010pqe.1_RNA	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	157	FAD (By similarity).				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.141)			TTACCTTTTCCAGTGTAAGTG	0.507												
ATP2B4	493	broad.mit.edu	37	1	203681119	203681119	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:203681119C>A	uc001gzw.2	+	13	2947	c.2063C>A	c.(2062-2064)GCT>GAT	p.A688D	ATP2B4_uc001gzv.2_Missense_Mutation_p.A688D|ATP2B4_uc009xaq.2_Missense_Mutation_p.A688D	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	688	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCAAACAAGCTGGCATTACT	0.517												
ZC3H11A	9877	broad.mit.edu	37	1	203816515	203816515	+	Missense_Mutation	SNP	C	C	T	rs4019824		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:203816515C>T	uc001hac.2	+	15	1862	c.1246C>T	c.(1246-1248)CGG>TGG	p.R416W	ZC3H11A_uc001had.2_Missense_Mutation_p.R416W|ZC3H11A_uc001hae.2_Missense_Mutation_p.R416W|ZC3H11A_uc001haf.2_Missense_Mutation_p.R416W|ZC3H11A_uc010pqm.1_Missense_Mutation_p.R362W|ZC3H11A_uc001hag.1_Missense_Mutation_p.R416W	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	416	Potential.						nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAAAAAACATCGGCAGCAGGA	0.398												
CNTN2	6900	broad.mit.edu	37	1	205038986	205038986	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:205038986G>T	uc001hbr.2	+	18	2497	c.2228G>T	c.(2227-2229)GGC>GTC	p.G743V	CNTN2_uc001hbq.1_Missense_Mutation_p.G634V|CNTN2_uc001hbs.2_Missense_Mutation_p.G531V	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	743	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACGGAGACGGCTTCGGCTAC	0.667												
LEMD1	93273	broad.mit.edu	37	1	205388357	205388357	+	Splice_Site	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:205388357C>T	uc001hcj.1	-	3	307	c.205_splice	c.e3+1	p.E69_splice	LEMD1_uc001hci.1_Splice_Site_p.G69_splice|LEMD1_uc001hck.1_Splice_Site|LEMD1_uc001hcl.1_Intron|LEMD1_uc001hcm.1_Intron|LEMD1_uc001hcn.1_Intron			Q68G75	LEMD1_HUMAN	RecName: Full=LEM domain-containing protein 1;          Short=LEMP-1; AltName: Full=Cancer/testis antigen 50;          Short=CT50;							integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			TATGGCGGTACCTTCGCTGTC	0.483												
IKBKE	9641	broad.mit.edu	37	1	206652330	206652330	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:206652330C>T	uc001hdz.1	+	10	1405	c.1037C>T	c.(1036-1038)GCC>GTC	p.A346V	IKBKE_uc009xbv.1_Missense_Mutation_p.A346V|IKBKE_uc001hea.1_Missense_Mutation_p.A261V	NM_014002	NP_054721	Q14164	IKKE_HUMAN	IKK-related kinase epsilon	346					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8	Breast(84;0.137)					ACCAGTGTGGCCCCCCGACAC	0.637												
RASSF5	83593	broad.mit.edu	37	1	206757767	206757767	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:206757767C>T	uc001hed.2	+	4	796	c.739C>T	c.(739-741)CGG>TGG	p.R247W	RASSF5_uc001hec.1_Missense_Mutation_p.R247W|RASSF5_uc001hee.2_Missense_Mutation_p.R247W|RASSF5_uc001hef.2_Missense_Mutation_p.R94W|RASSF5_uc001heg.1_Missense_Mutation_p.R20W	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family 5	247					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			ovary(1)	1	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTGAAACTCCGGCGGCCTGT	0.612											OREG0014174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CR1	1378	broad.mit.edu	37	1	207700217	207700217	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:207700217G>A	uc001hfy.2	+	6	1146	c.1006G>A	c.(1006-1008)GCG>ACG	p.A336T	CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.A336T|CR1_uc009xcj.1_Intron|CR1_uc009xck.1_Missense_Mutation_p.A336T|CR1_uc010psh.1_5'Flank	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	336	Sushi 5.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CAGAGGGGCTGCGTCTATGCG	0.557												
PPP2R5A	5525	broad.mit.edu	37	1	212506858	212506858	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:212506858G>A	uc001hjb.2	+	3	972	c.398G>A	c.(397-399)CGT>CAT	p.R133H	PPP2R5A_uc010ptd.1_Missense_Mutation_p.R74H	NM_006243	NP_006234	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B	133					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		AACATCTTCCGTACACTTCCT	0.373												
TATDN3	128387	broad.mit.edu	37	1	212977736	212977736	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:212977736A>T	uc001hjo.2	+	6	490	c.396A>T	c.(394-396)AGA>AGT	p.R132S	TATDN3_uc010ptj.1_Missense_Mutation_p.R132S|TATDN3_uc010ptk.1_Missense_Mutation_p.R132S|TATDN3_uc001hjp.2_Missense_Mutation_p.R132S|TATDN3_uc010ptl.1_Missense_Mutation_p.R111S|TATDN3_uc010ptm.1_Missense_Mutation_p.R80S	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3 isoform 1	132						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		TCCTAATCAGACAGATCCAGT	0.363												
PTPN14	5784	broad.mit.edu	37	1	214537979	214537979	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:214537979T>C	uc001hkk.1	-	18	3582	c.3311A>G	c.(3310-3312)AAC>AGC	p.N1104S		NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	1104	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CAGCATGCTGTTGGTATGGCG	0.562												
PTPN14	5784	broad.mit.edu	37	1	214557015	214557015	+	Missense_Mutation	SNP	C	C	T	rs142125075	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:214557015C>T	uc001hkk.1	-	13	2454	c.2183G>A	c.(2182-2184)CGG>CAG	p.R728Q	PTPN14_uc010pty.1_Missense_Mutation_p.R629Q	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	728					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CATCTTCTCCCGGAGCATGGG	0.607												
CENPF	1063	broad.mit.edu	37	1	214819048	214819048	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:214819048G>T	uc001hkm.2	+	13	6309	c.6135G>T	c.(6133-6135)CAG>CAT	p.Q2045H		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2141	Potential.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGGACTCACAGGCACTGTCTT	0.433												
USH2A	7399	broad.mit.edu	37	1	215853644	215853644	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:215853644G>A	uc001hku.1	-	62	12528	c.12141C>T	c.(12139-12141)AAC>AAT	p.N4047N		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4047	Fibronectin type-III 25.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCTGCATGGTTTGCAGCCA	0.423										HNSCC(13;0.011)		
USH2A	7399	broad.mit.edu	37	1	216260158	216260158	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:216260158G>A	uc001hku.1	-	24	5277	c.4890C>T	c.(4888-4890)TCC>TCT	p.S1630S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1630	Laminin G-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGATGGCAGAGGAACCTAGAG	0.393										HNSCC(13;0.011)		
BPNT1	10380	broad.mit.edu	37	1	220253145	220253145	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:220253145G>A	uc001hma.2	-	2	216	c.44C>T	c.(43-45)GCA>GTA	p.A15V	BPNT1_uc010pug.1_Intron|BPNT1_uc010puh.1_Missense_Mutation_p.A15V|BPNT1_uc001hmb.3_Missense_Mutation_p.A15V	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	15					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)		AATAGAATATGCGGAGGCTAC	0.413												
HHIPL2	79802	broad.mit.edu	37	1	222717093	222717093	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:222717093G>A	uc001hnh.1	-	2	818	c.760C>T	c.(760-762)CCC>TCC	p.P254S		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	254				P -> S (in Ref. 4; AAH07638).	carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		TCCAGGAAGGGTTGCTCCAGG	0.582												
MIA3	375056	broad.mit.edu	37	1	222806530	222806530	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:222806530T>C	uc001hnl.2	+	6	3425	c.3416T>C	c.(3415-3417)GTC>GCC	p.V1139A	MIA3_uc009xea.1_Missense_Mutation_p.V975A	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1139	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		CCGGCAAGTGTCACACCTTTG	0.388												
FBXO28	23219	broad.mit.edu	37	1	224318241	224318241	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:224318241A>G	uc001hoh.2	+	2	376	c.335A>G	c.(334-336)TAC>TGC	p.Y112C	FBXO28_uc009xef.2_Missense_Mutation_p.Y112C|FBXO28_uc010pvc.1_5'UTR	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN	F-box protein 28 isoform a	112										ovary(2)|kidney(2)|lung(1)	5	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GTGGAGAGGTACCATAATCTA	0.378												
NVL	4931	broad.mit.edu	37	1	224488264	224488264	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:224488264C>A	uc001hok.2	-	10	1105	c.1062G>T	c.(1060-1062)GTG>GTT	p.V354V	NVL_uc001hol.2_Silent_p.V248V|NVL_uc010pvd.1_Silent_p.V263V|NVL_uc010pve.1_Silent_p.V165V|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	354						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)		ACTGACTCACCACAGCTTGCT	0.448												
EPHX1	2052	broad.mit.edu	37	1	226027006	226027006	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:226027006G>T	uc001hpk.2	+	5	761	c.681G>T	c.(679-681)TGG>TGT	p.W227C	EPHX1_uc001hpl.2_Missense_Mutation_p.W227C	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	epoxide hydrolase 1	227					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			ovary(3)|lung(1)	4	Breast(184;0.197)					GAGGGGACTGGGGGTCCCTGA	0.478												
PYCR2	29920	broad.mit.edu	37	1	226109705	226109705	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:226109705G>A	uc001hpq.2	-	4	548	c.393C>T	c.(391-393)GGC>GGT	p.G131G	LEFTY1_uc010pvj.1_Intron|PYCR2_uc001hpp.2_Silent_p.G95G|PYCR2_uc001hpr.2_Silent_p.G84G|PYCR2_uc001hps.1_Silent_p.G84G	NM_013328	NP_037460	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member	131					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity				0	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	ACACTGTAGCGCCTTCCTGCA	0.602												
SNAP47	116841	broad.mit.edu	37	1	227946918	227946918	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:227946918T>C	uc001hrf.2	+	3	1269	c.855T>C	c.(853-855)CAT>CAC	p.H285H	SNAP47_uc001hqz.2_Silent_p.H240H|SNAP47_uc001hra.2_Silent_p.H43H|SNAP47_uc001hrd.2_Silent_p.H285H|SNAP47_uc001hre.2_Silent_p.H43H|SNAP47_uc001hrg.1_Silent_p.H240H	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	285						endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1						TGGAAATACATGACTCCAGTT	0.463												
WNT9A	7483	broad.mit.edu	37	1	228109533	228109533	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:228109533C>T	uc001hri.2	-	4	872	c.784G>A	c.(784-786)GGC>AGC	p.G262S		NM_003395	NP_003386	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family,	262					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|pancreas(1)	2		Prostate(94;0.0405)				CCTGCCTCGCCGGCAGCTTCA	0.662												
WNT3A	89780	broad.mit.edu	37	1	228246907	228246907	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:228246907C>T	uc001hrq.1	+	4	878	c.800C>T	c.(799-801)ACG>ATG	p.T267M	WNT3A_uc001hrp.1_Missense_Mutation_p.T267M	NM_033131	NP_149122	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family,	267					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			ovary(1)	1		Prostate(94;0.0405)				AAGGTGCCCACGGAGCGCGAC	0.672												
OBSCN	84033	broad.mit.edu	37	1	228464274	228464274	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:228464274G>A	uc009xez.1	+	22	6388	c.6344G>A	c.(6343-6345)CGG>CAG	p.R2115Q	OBSCN_uc001hsn.2_Missense_Mutation_p.R2115Q|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2115	Ig-like 21.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GACGGTCTGCGGTTCCAGCAG	0.677												
OBSCN	84033	broad.mit.edu	37	1	228503673	228503673	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:228503673G>A	uc009xez.1	+	50	13182	c.13138G>A	c.(13138-13140)GTG>ATG	p.V4380M	OBSCN_uc001hsn.2_Missense_Mutation_p.V4380M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4380	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)				CGACGAACCCGTGCACACCTC	0.667												
GALNT2	2590	broad.mit.edu	37	1	230379077	230379077	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:230379077G>T	uc010pwa.1	+	7	705	c.633G>T	c.(631-633)GGG>GGT	p.G211G	GALNT2_uc010pvy.1_Silent_p.G173G|GALNT2_uc010pvz.1_RNA	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	211	Lumenal (Potential).|Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGGTTCGGGGGGCCGATGCTG	0.637												
PGBD5	79605	broad.mit.edu	37	1	230486741	230486741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:230486741C>T	uc010pwb.1	-	3	650	c.650G>A	c.(649-651)TGG>TAG	p.W217*	PGBD5_uc001htv.2_Nonsense_Mutation_p.W316*	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	217						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TTGTCTGACCCAGAGGCTGAA	0.567												
TTC13	79573	broad.mit.edu	37	1	231060677	231060677	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:231060677C>T	uc001huf.3	-	14	1662	c.1631G>A	c.(1630-1632)CGT>CAT	p.R544H	TTC13_uc009xfi.2_Missense_Mutation_p.R491H|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.R491H|TTC13_uc009xfk.1_Missense_Mutation_p.R434H	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	544							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GGTCCATGTACGCTGCACGGC	0.463												
SIPA1L2	57568	broad.mit.edu	37	1	232649623	232649623	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:232649623C>T	uc001hvg.2	-	1	1621	c.1463G>A	c.(1462-1464)CGC>CAC	p.R488H		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	488					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGAATTTGCGGTAATAATA	0.453												
PCNXL2	80003	broad.mit.edu	37	1	233363000	233363000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:233363000G>A	uc001hvl.2	-	10	2711	c.2476C>T	c.(2476-2478)CGA>TGA	p.R826*	PCNXL2_uc009xfu.2_Intron|PCNXL2_uc009xfv.1_Intron|PCNXL2_uc001hvq.1_Nonsense_Mutation_p.R125*	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	826						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				AAGGTCAGTCGATCATACCAG	0.473												
B3GALNT2	148789	broad.mit.edu	37	1	235618966	235618966	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:235618966C>G	uc001hxc.2	-	9	1285	c.1056G>C	c.(1054-1056)TTG>TTC	p.L352F		NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	352	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			breast(1)	1	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CTGTCTTCAGCAACAAATTGA	0.418												
HEATR1	55127	broad.mit.edu	37	1	236721732	236721732	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:236721732G>A	uc001hyd.1	-	36	5134	c.5009C>T	c.(5008-5010)GCA>GTA	p.A1670V	HEATR1_uc009xgh.1_Missense_Mutation_p.A832V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1670					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGTATACAATGCTGTCTGTCT	0.433												
ACTN2	88	broad.mit.edu	37	1	236902795	236902795	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:236902795G>A	uc001hyf.2	+	10	1274	c.1070G>A	c.(1069-1071)CGT>CAT	p.R357H	ACTN2_uc001hyg.2_Missense_Mutation_p.R149H|ACTN2_uc009xgi.1_Missense_Mutation_p.R357H|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_Missense_Mutation_p.R45H	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	357	Spectrin 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATCAGCAACCGTCCTGCCTTC	0.607												
RYR2	6262	broad.mit.edu	37	1	237791219	237791219	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:237791219C>T	uc001hyl.1	+	41	6399	c.6279C>T	c.(6277-6279)GAC>GAT	p.D2093D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2093	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCAGTATGACGGCATTGGGG	0.552												
RYR2	6262	broad.mit.edu	37	1	237870335	237870335	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:237870335G>A	uc001hyl.1	+	68	9787	c.9667G>A	c.(9667-9669)GAG>AAG	p.E3223K	RYR2_uc010pxz.1_Missense_Mutation_p.E178K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3223					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAATTAGCCGAGTCCGGCAT	0.468												
CHRM3	1131	broad.mit.edu	37	1	240072104	240072104	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:240072104G>A	uc001hyp.2	+	5	2132	c.1353G>A	c.(1351-1353)ACG>ACA	p.T451T		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	451	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GTAAGAGCACGGCCACTCTAC	0.517												
TFB2M	64216	broad.mit.edu	37	1	246711878	246711878	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:246711878C>T	uc001ibn.2	-	6	952	c.827G>A	c.(826-828)CGG>CAG	p.R276Q	TFB2M_uc010pys.1_RNA	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	276					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			CGGCCCTTTCCGGGTGTATAT	0.368												
ZNF695	57116	broad.mit.edu	37	1	247150765	247150765	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:247150765G>T	uc009xgu.2	-	4	1197	c.1052C>A	c.(1051-1053)ACC>AAC	p.T351N	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein SBZF3	351					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACATCGGAAGGTTTTCTCTCC	0.383												
ZNF670	93474	broad.mit.edu	37	1	247200798	247200798	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:247200798T>C	uc001icd.1	-	4	1294	c.1123A>G	c.(1123-1125)AGT>GGT	p.S375G	ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	zinc finger protein 670	375	C2H2-type 9; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CTGGAACAACTGAAGGCTTTA	0.388												
OR2W3	343171	broad.mit.edu	37	1	248039226	248039226	+	Translation_Start_Site	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:248039226C>T	uc001idp.1	+	2	126	c.-143C>T	c.(-145--141)CACGG>CATGG		TRIM58_uc001ido.2_Missense_Mutation_p.T299M	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,						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)			GATCCCGCCACGGCGCACCCG	0.537												
OR2L8	391190	broad.mit.edu	37	1	248112950	248112950	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:248112950T>C	uc001idt.1	+	1	791	c.791T>C	c.(790-792)CTG>CCG	p.L264P	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	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;0.0152)			CCAAGATCCCTGCGATCTCCA	0.488												
RBM17	84991	broad.mit.edu	37	10	6157236	6157236	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:6157236T>C	uc001ijb.2	+	11	1290	c.1064T>C	c.(1063-1065)ATA>ACA	p.I355T	RBM17_uc010qav.1_Missense_Mutation_p.I355T|RBM17_uc001ijc.2_RNA	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	355	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0						GCAGTACGGATATTTTTAGAA	0.338												
SFMBT2	57713	broad.mit.edu	37	10	7409719	7409719	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:7409719C>T	uc009xio.1	-	4	419	c.328G>A	c.(328-330)GGT>AGT	p.G110S	SFMBT2_uc001ijn.1_Missense_Mutation_p.G110S|SFMBT2_uc010qay.1_Missense_Mutation_p.G110S|SFMBT2_uc001ijo.1_Missense_Mutation_p.G110S	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	110	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						TCCCCGTAACCGCAGTAGCGC	0.572												
CDC123	8872	broad.mit.edu	37	10	12238292	12238292	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:12238292G>A	uc001ill.2	+	1	332	c.48G>A	c.(46-48)CCG>CCA	p.P16P	NUDT5_uc001ilj.2_5'Flank|NUDT5_uc001ilk.2_5'Flank|CDC123_uc009xja.2_Silent_p.P16P|CDC123_uc001ilm.2_Silent_p.P16P	NM_006023	NP_006014	O75794	CD123_HUMAN	cell division cycle 123	16					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)	1						CGTGGTACCCGTTCTTCCGAG	0.602												
DCLRE1C	64421	broad.mit.edu	37	10	14991060	14991060	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:14991060T>C	uc001inn.2	-	2	221	c.136A>G	c.(136-138)ACC>GCC	p.T46A	DCLRE1C_uc010qbx.1_Missense_Mutation_p.T46A|DCLRE1C_uc001inl.2_5'UTR|DCLRE1C_uc009xji.2_Intron|DCLRE1C_uc001inm.2_5'UTR|DCLRE1C_uc001ino.2_5'UTR|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_5'UTR|DCLRE1C_uc001inq.2_5'UTR|DCLRE1C_uc001inr.2_5'UTR	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	artemis protein isoform a	46					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)	1						CTTTTCAAGGTAGGGGCTCTT	0.279								Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ				
FAM171A1	221061	broad.mit.edu	37	10	15255509	15255509	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:15255509A>G	uc001iob.2	-	8	2085	c.2078T>C	c.(2077-2079)CTG>CCG	p.L693P		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	693	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						AAGCTCCATCAGGGCCTTTTC	0.577												
ITGA8	8516	broad.mit.edu	37	10	15760810	15760810	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:15760810C>T	uc001ioc.1	-	2	298	c.298G>A	c.(298-300)GCG>ACG	p.A100T	ITGA8_uc010qcb.1_Missense_Mutation_p.A100T	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	100	Extracellular (Potential).|FG-GAP 1.				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6						GACCCCTCCGCGGGCCAAGGA	0.587												
CUBN	8029	broad.mit.edu	37	10	17145208	17145208	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:17145208A>G	uc001ioo.2	-	13	1498	c.1446T>C	c.(1444-1446)AAT>AAC	p.N482N		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	482	CUB 1.				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)	TGAAGCTTCCATTTATTCCTG	0.433												
PTPLA	9200	broad.mit.edu	37	10	17646017	17646017	+	Missense_Mutation	SNP	C	C	T	rs150586011		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:17646017C>T	uc001ipg.2	-	2	322	c.287G>A	c.(286-288)CGT>CAT	p.R96H	PTPLA_uc001iph.1_Missense_Mutation_p.R96H	NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like, member A	96	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						CATATAAAAACGTACCATGGC	0.289												
KIAA1217	56243	broad.mit.edu	37	10	24832165	24832165	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:24832165C>T	uc001iru.3	+	19	4369	c.3966C>T	c.(3964-3966)CAC>CAT	p.H1322H	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_Silent_p.H1005H|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Silent_p.H158H	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1322					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						TTTCCTCTCACACTAGACTAA	0.418												
GPR158	57512	broad.mit.edu	37	10	25887176	25887176	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:25887176C>T	uc001isj.2	+	11	2681	c.2621C>T	c.(2620-2622)CCG>CTG	p.P874L	GPR158_uc001isk.2_Missense_Mutation_p.P249L	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	874	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GAGTCGGTGCCGTTGGTGTGC	0.488												
MTPAP	55149	broad.mit.edu	37	10	30653757	30653757	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:30653757C>T	uc001ivb.3	-	9	1797	c.425G>A	c.(424-426)CGG>CAG	p.R142Q	LOC729668_uc001ivd.2_RNA|uc001ive.1_5'Flank	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor	Error:Variant_position_missing_in_Q9NVV4_after_alignment					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1						GCCTGCAAGCCGCAACACCAG	0.582												
ZEB1	6935	broad.mit.edu	37	10	31799797	31799797	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:31799797A>C	uc001ivs.3	+	5	741	c.678A>C	c.(676-678)AGA>AGC	p.R226S	ZEB1_uc001ivr.3_Missense_Mutation_p.R8S|ZEB1_uc010qee.1_Missense_Mutation_p.R8S|ZEB1_uc010qef.1_Missense_Mutation_p.R8S|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Missense_Mutation_p.R152S|ZEB1_uc010qeg.1_Missense_Mutation_p.R85S|ZEB1_uc009xlk.1_Missense_Mutation_p.R8S|ZEB1_uc001ivt.3_Missense_Mutation_p.R8S|ZEB1_uc001ivu.3_Missense_Mutation_p.R227S|ZEB1_uc001ivv.3_Missense_Mutation_p.R206S|ZEB1_uc010qeh.1_Missense_Mutation_p.R159S|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Missense_Mutation_p.R209S|ZEB1_uc009xlp.2_Missense_Mutation_p.R210S	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	226					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				AATCAGGAAGAGATCAAGTAA	0.368												
EPC1	80314	broad.mit.edu	37	10	32575927	32575927	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:32575927G>A	uc001iwg.1	-	8	1439	c.1169C>T	c.(1168-1170)TCG>TTG	p.S390L	EPC1_uc001iwi.3_Missense_Mutation_p.S340L|EPC1_uc009xlt.2_Missense_Mutation_p.S340L|EPC1_uc001iwh.1_Missense_Mutation_p.S390L	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	enhancer of polycomb 1	390					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				ovary(3)|central_nervous_system(1)	4		Prostate(175;0.0199)				CTCAGCTTCCGAAGAGCCAGA	0.398												
C10orf68	79741	broad.mit.edu	37	10	33018339	33018339	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:33018339C>T	uc001iwn.3	+	10	1253	c.780C>T	c.(778-780)AGC>AGT	p.S260S	C10orf68_uc001iwl.1_Silent_p.S268S|C10orf68_uc001iwm.1_Silent_p.S236S|C10orf68_uc010qei.1_Silent_p.S172S|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	260										skin(2)|ovary(1)	3						TATCAAGAAGCGAATCTCAAA	0.249												
ITGB1	3688	broad.mit.edu	37	10	33209310	33209310	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:33209310G>T	uc001iws.3	-	10	1268	c.1132C>A	c.(1132-1134)CTT>ATT	p.L378I	ITGB1_uc001iwp.3_Missense_Mutation_p.L378I|ITGB1_uc001iwq.3_Missense_Mutation_p.L378I|ITGB1_uc001iwr.3_Missense_Mutation_p.L378I|ITGB1_uc001iwt.3_Missense_Mutation_p.L378I|ITGB1_uc001iwu.1_Missense_Mutation_p.L378I	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	378	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TCTGAGGAAAGGGACTAAAAG	0.353												
FZD8	8325	broad.mit.edu	37	10	35929958	35929958	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:35929958G>A	uc001iyz.1	-	1	405	c.400C>T	c.(400-402)CGC>TGC	p.R134C		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	134	FZ.|Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						CGGTCGCAGCGCATGCGGTCG	0.607												
ANKRD30A	91074	broad.mit.edu	37	10	37421250	37421250	+	Missense_Mutation	SNP	C	C	T	rs61737413		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:37421250C>T	uc001iza.1	+	4	524	c.425C>T	c.(424-426)GCG>GTG	p.A142V		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	198	ANK 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AATGCAAATGCGAATGCAGTT	0.299												
RET	5979	broad.mit.edu	37	10	43622119	43622119	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:43622119G>A	uc001jal.2	+	19	3326	c.3136G>A	c.(3136-3138)GCC>ACC	p.A1046T	RET_uc001jak.1_Missense_Mutation_p.A1046T|RET_uc010qez.1_Missense_Mutation_p.A792T	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	1046	Cytoplasmic (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTGTAATAATGCCCCCCTCCC	0.527		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma			
CSGALNACT2	55454	broad.mit.edu	37	10	43678815	43678815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:43678815G>A	uc001jan.2	+	8	1789	c.1454G>A	c.(1453-1455)TGG>TAG	p.W485*		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	485	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						TTCCACCTCTGGCATGAAAAG	0.507												
HNRNPF	3185	broad.mit.edu	37	10	43882324	43882324	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:43882324T>C	uc009xmh.1	-	3	1496	c.1009A>G	c.(1009-1011)ACT>GCT	p.T337A	HNRNPF_uc001jar.2_Missense_Mutation_p.T337A|HNRNPF_uc001jas.2_Missense_Mutation_p.T337A|HNRNPF_uc001jat.2_Missense_Mutation_p.T337A|HNRNPF_uc001jav.2_Missense_Mutation_p.T337A|HNRNPF_uc001jau.2_Missense_Mutation_p.T337A|uc010qfa.1_Silent_p.S2S	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	337	RRM 3.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						TCTTCATGAGTAGCAAACTCA	0.463												
TMEM72	643236	broad.mit.edu	37	10	45430173	45430173	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:45430173C>A	uc001jbn.2	+	5	616	c.419C>A	c.(418-420)CCC>CAC	p.P140H	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.P22H	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	140						integral to membrane					0						AAAGCTGCCCCCGAGGTGCTG	0.597												
ALOX5	240	broad.mit.edu	37	10	45938973	45938973	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:45938973C>T	uc001jce.2	+	11	1660	c.1561C>T	c.(1561-1563)CGC>TGC	p.R521C	ALOX5_uc009xmt.2_Missense_Mutation_p.R489C|ALOX5_uc010qfg.1_Missense_Mutation_p.R521C	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	521	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CATGCGGGGCCGCAAGTCCTC	0.692												
ERCC6	2074	broad.mit.edu	37	10	50678849	50678849	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:50678849G>A	uc001jhs.3	-	18	3311	c.3157C>T	c.(3157-3159)CGC>TGC	p.R1053C	ERCC6_uc009xod.2_Missense_Mutation_p.R213C|ERCC6_uc010qgr.1_Missense_Mutation_p.R423C|ERCC6_uc001jhr.3_Missense_Mutation_p.R421C	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	1053	Nuclear localization signal (Potential).				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						AACTTCTTGCGTTTTGGAACA	0.408								Direct_reversal_of_damage|NER				
SLC18A3	6572	broad.mit.edu	37	10	50819414	50819414	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:50819414C>T	uc001jhw.2	+	1	1068	c.628C>T	c.(628-630)CGC>TGC	p.R210C	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	210	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						GGAGCCGGAGCGCAGTCGTGC	0.672												
SLC25A16	8034	broad.mit.edu	37	10	70243270	70243270	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:70243270A>G	uc001joi.2	-	9	1370	c.918T>C	c.(916-918)CTT>CTC	p.L306L	SLC25A16_uc010qix.1_Silent_p.L172L|SLC25A16_uc010qiy.1_Silent_p.L208L|SLC25A16_uc001joj.2_Silent_p.L208L	NM_152707	NP_689920	P16260	GDC_HUMAN	solute carrier family 25, member 16	306	Solcar 3.|Helical; Name=6; (Potential).				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity				0						GAATGTAATTAAGAGATAAAC	0.358												
TET1	80312	broad.mit.edu	37	10	70451499	70451499	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:70451499C>A	uc001jok.3	+	12	6844	c.6339C>A	c.(6337-6339)ACC>ACA	p.T2113T		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	2113					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TAACATTAACCCATGACAATG	0.453												
STOX1	219736	broad.mit.edu	37	10	70646144	70646144	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:70646144T>A	uc001jos.2	+	3	2679	c.2592T>A	c.(2590-2592)AGT>AGA	p.S864R	STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.S754R	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN	storkhead box 1 isoform a	864						cytoplasm|nucleolus	DNA binding			kidney(1)|skin(1)	2						GAAAAGCCAGTTTTGAAGCTG	0.423												
DDX50	79009	broad.mit.edu	37	10	70679634	70679634	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:70679634G>T	uc001jou.2	+	8	1243	c.1136G>T	c.(1135-1137)GGA>GTA	p.G379V	DDX50_uc010qjc.1_Missense_Mutation_p.G379V	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	379						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						GCAGTTATTGGAGATGTCCTT	0.368												
HK1	3098	broad.mit.edu	37	10	71128331	71128331	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:71128331G>A	uc001jpl.3	+	5	636	c.535G>A	c.(535-537)GGA>AGA	p.G179R	HK1_uc001jpg.3_Missense_Mutation_p.G167R|HK1_uc001jph.3_Missense_Mutation_p.G183R|HK1_uc001jpi.3_Missense_Mutation_p.G183R|HK1_uc001jpj.3_Missense_Mutation_p.G214R|HK1_uc001jpk.3_Missense_Mutation_p.G178R|HK1_uc009xqd.2_Missense_Mutation_p.G57R	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	179	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						TAAAGCGAGCGGAGTGGAAGG	0.567												
COL13A1	1305	broad.mit.edu	37	10	71678073	71678073	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:71678073G>T	uc001jpr.1	+	18	1565	c.1029G>T	c.(1027-1029)AAG>AAT	p.K343N	COL13A1_uc001jqj.1_Missense_Mutation_p.K343N|COL13A1_uc001jps.1_Missense_Mutation_p.K314N|COL13A1_uc001jpt.1_Missense_Mutation_p.K302N|COL13A1_uc001jpu.1_Missense_Mutation_p.K324N|COL13A1_uc001jpv.1_Missense_Mutation_p.K343N|COL13A1_uc001jpx.1_Missense_Mutation_p.K321N|COL13A1_uc001jpw.1_Missense_Mutation_p.K290N|COL13A1_uc001jpy.1_Missense_Mutation_p.K281N|COL13A1_uc001jpz.1_Missense_Mutation_p.K286N|COL13A1_uc001jqa.1_Missense_Mutation_p.K283N|COL13A1_uc001jqc.1_Missense_Mutation_p.K343N|COL13A1_uc001jqb.1_Missense_Mutation_p.K292N|COL13A1_uc001jql.2_Missense_Mutation_p.K343N|COL13A1_uc001jqd.1_Missense_Mutation_p.K331N|COL13A1_uc001jqe.1_Missense_Mutation_p.K326N|COL13A1_uc001jqf.1_Missense_Mutation_p.K324N|COL13A1_uc001jqg.1_Missense_Mutation_p.K321N|COL13A1_uc001jqh.1_Missense_Mutation_p.K343N|COL13A1_uc001jqi.1_Missense_Mutation_p.K343N|COL13A1_uc010qjf.1_Missense_Mutation_p.K133N|COL13A1_uc001jqk.1_Missense_Mutation_p.K181N	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	343	Extracellular (Potential).|Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	p.K326K(1)		ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	CTGGGATGAAGGTCAGTGGAC	0.597												
H2AFY2	55506	broad.mit.edu	37	10	71849835	71849835	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:71849835C>T	uc001jqm.2	+	3	651	c.192C>T	c.(190-192)GCC>GCT	p.A64A	H2AFY2_uc001jqn.2_RNA	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	64	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			skin(1)	1						TAGAATTGGCCGGCAATGCCG	0.502												
NODAL	4838	broad.mit.edu	37	10	72195498	72195498	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:72195498G>T	uc001jrc.2	-	2	477	c.435C>A	c.(433-435)ACC>ACA	p.T145T		NM_018055	NP_060525	Q96S42	NODAL_HUMAN	nodal precursor	145					growth	extracellular space	cytokine activity|growth factor activity			large_intestine(1)|kidney(1)	2						CCAAGGAAAAGGTGACCTGGG	0.557												
UNC5B	219699	broad.mit.edu	37	10	73056442	73056442	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:73056442C>T	uc001jro.2	+	15	2878	c.2433C>T	c.(2431-2433)TGC>TGT	p.C811C	UNC5B_uc001jrp.2_Silent_p.C800C	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	811	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						GCAAGATCTGCGTGCGGCAAG	0.582												
CDH23	64072	broad.mit.edu	37	10	73376970	73376970	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:73376970G>A	uc001jrx.3	+	11	1331	c.954G>A	c.(952-954)GAG>GAA	p.E318E	CDH23_uc001jrw.3_Silent_p.E318E|CDH23_uc009xql.2_Silent_p.E363E	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	318	Cadherin 3.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						AGGGCACGGAGCTGAACGATG	0.428												
PLA2G12B	84647	broad.mit.edu	37	10	74695441	74695441	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:74695441G>A	uc001jtf.1	-	4	589	c.522C>T	c.(520-522)TGC>TGT	p.C174C	PLA2G12B_uc009xqt.1_Silent_p.C84C|PLA2G12B_uc010qjz.1_Silent_p.C173C	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB precursor	174					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			ovary(1)	1	Prostate(51;0.0198)					TAAAGGGGCGGCAGCCCAAGG	0.488												
VCL	7414	broad.mit.edu	37	10	75863688	75863688	+	Splice_Site	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:75863688T>C	uc001jwd.2	+	15	2225	c.2131_splice	c.e15+2	p.G711_splice	VCL_uc009xrr.2_Splice_Site_p.G460_splice|VCL_uc010qky.1_Splice_Site_p.G618_splice|VCL_uc001jwe.2_Splice_Site_p.G711_splice|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL						adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					AAATGACAGGTAGAGTTTTCT	0.388												
MYST4	23522	broad.mit.edu	37	10	76788662	76788662	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:76788662A>G	uc001jwn.1	+	18	4573	c.4080A>G	c.(4078-4080)GAA>GAG	p.E1360E	MYST4_uc001jwo.1_Silent_p.E1068E|MYST4_uc001jwp.1_Silent_p.E1177E	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1360	Poly-Glu.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					aggaggaggaagaggaagaag	0.234			T	CREBBP	AML							
MYST4	23522	broad.mit.edu	37	10	76788772	76788772	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:76788772C>T	uc001jwn.1	+	18	4683	c.4190C>T	c.(4189-4191)ACG>ATG	p.T1397M	MYST4_uc001jwo.1_Missense_Mutation_p.T1105M|MYST4_uc001jwp.1_Missense_Mutation_p.T1214M	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1397					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					GAAATCTCCACGGAAAAAGAA	0.358			T	CREBBP	AML							
POLR3A	11128	broad.mit.edu	37	10	79745049	79745049	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:79745049T>C	uc001jzn.2	-	24	3215	c.3121A>G	c.(3121-3123)ATT>GTT	p.I1041V		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1041					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGCTCACCAATGCTCTGGGCA	0.542												
BMPR1A	657	broad.mit.edu	37	10	88683138	88683138	+	Missense_Mutation	SNP	G	G	A	rs55932635		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:88683138G>A	uc001kdy.2	+	12	1896	c.1348G>A	c.(1348-1350)GTG>ATG	p.V450M	BMPR1A_uc001kdz.2_Translation_Start_Site	NM_004329	NP_004320	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	450	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						TATAGGGATCGTGGAAGAATA	0.408			Mis|N|F			gastrointestinal polyps			Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis			
MMRN2	79812	broad.mit.edu	37	10	88703700	88703700	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:88703700C>T	uc001kea.2	-	6	968	c.841G>A	c.(841-843)GTG>ATG	p.V281M	MMRN2_uc010qmn.1_Intron|MMRN2_uc009xtb.2_Missense_Mutation_p.V238M	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	281						extracellular space				large_intestine(1)	1						GCCCTGGCCACGGCACTGTCC	0.587												
LIPA	3988	broad.mit.edu	37	10	90988087	90988087	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:90988087C>T	uc001kga.3	-	4	466	c.298G>A	c.(298-300)GCC>ACC	p.A100T	LIPA_uc001kgb.3_Missense_Mutation_p.A44T|LIPA_uc001kgc.3_Missense_Mutation_p.A95T|LIPA_uc009xtq.2_Missense_Mutation_p.A100T	NM_000235	NP_000226	P38571	LICH_HUMAN	lipase A precursor	100					lipid catabolic process	lysosome	lipase activity|sterol esterase activity				0		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		CTGCTGTTGGCAAGGTTTGTG	0.483												
PANK1	53354	broad.mit.edu	37	10	91371754	91371754	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:91371754T>C	uc001kgp.1	-	2	911	c.755A>G	c.(754-756)TAT>TGT	p.Y252C	PANK1_uc001kgn.1_Missense_Mutation_p.Y27C|PANK1_uc001kgo.1_Missense_Mutation_p.Y27C|PANK1_uc009xtu.1_Missense_Mutation_p.Y54C	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	252					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	CGGCTCGAAATACACCAATTT	0.453												
PANK1	53354	broad.mit.edu	37	10	91405007	91405007	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:91405007G>A	uc001kgp.1	-	1	209	c.53C>T	c.(52-54)GCG>GTG	p.A18V	PANK1_uc001kgn.1_5'Flank|PANK1_uc001kgo.1_5'Flank|PANK1_uc009xtu.1_5'Flank	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	18					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	ACTGGTCCCCGCCACTGAGCA	0.697												
ANKRD1	27063	broad.mit.edu	37	10	92675364	92675364	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:92675364A>G	uc001khe.1	-	8	1033	c.785T>C	c.(784-786)CTG>CCG	p.L262P		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	cardiac ankyrin repeat protein	262	ANK 4.				cellular lipid metabolic process|defense response|signal transduction		DNA binding				0		Colorectal(252;0.0475)				ATAGCGGTTCAGTCTCACCGC	0.507												
IDE	3416	broad.mit.edu	37	10	94274751	94274751	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:94274751A>G	uc001kia.2	-	5	786	c.710T>C	c.(709-711)GTA>GCA	p.V237A		NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	237					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCTTGTCTTACATCAATGCC	0.358												
PLCE1	51196	broad.mit.edu	37	10	95790874	95790874	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:95790874C>T	uc001kjk.2	+	2	705	c.71C>T	c.(70-72)TCG>TTG	p.S24L	PLCE1_uc010qnx.1_Missense_Mutation_p.S24L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	24					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TCTGCCCAGTCGGCTGCAGAT	0.428												
ANKRD2	26287	broad.mit.edu	37	10	99341172	99341172	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:99341172G>A	uc001knw.2	+	6	944	c.735_splice	c.e6+1	p.K245_splice	DHDPSL_uc001knx.2_5'Flank|DHDPSL_uc001kny.2_5'Flank|DHDPSL_uc001knz.2_5'Flank|PI4K2A_uc010qoy.1_5'Flank|ANKRD2_uc009xvu.2_Splice_Site_p.K245_splice	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 isoform a						muscle contraction|muscle organ development		structural constituent of muscle				0		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GAGGGATAAGGTGAGGCAAAA	0.572												
HPSE2	60495	broad.mit.edu	37	10	100481539	100481539	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:100481539G>A	uc001kpn.1	-	5	891	c.831C>T	c.(829-831)AGC>AGT	p.S277S	HPSE2_uc009xwc.1_Silent_p.S267S|HPSE2_uc001kpo.1_Silent_p.S209S|HPSE2_uc009xwd.1_Silent_p.S155S	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	277					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTCCCAACTGGCTGCCATTTA	0.488												
DNMBP	23268	broad.mit.edu	37	10	101715303	101715303	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:101715303C>T	uc001kqj.2	-	4	2020	c.1928G>A	c.(1927-1929)CGC>CAC	p.R643H	NCRNA00093_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	643	Pro-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGGAGCTGGGCGAGAGGGTCG	0.587												
CWF19L1	55280	broad.mit.edu	37	10	102006622	102006622	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:102006622T>C	uc001kqq.1	-	8	866	c.779A>G	c.(778-780)GAT>GGT	p.D260G	CWF19L1_uc001kqs.1_Missense_Mutation_p.D12G|CWF19L1_uc001kqr.1_Missense_Mutation_p.D260G|CWF19L1_uc001kqt.1_5'UTR|CWF19L1_uc010qpn.1_Missense_Mutation_p.D123G	NM_018294	NP_060764	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control	260							catalytic activity				0		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TTCAGTGACATCCGGAGGCTG	0.413												
PAX2	5076	broad.mit.edu	37	10	102509534	102509534	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:102509534G>A	uc001krk.3	+	2	625	c.75G>A	c.(73-75)GGG>GGA	p.G25G	PAX2_uc001krl.3_Silent_p.G25G|PAX2_uc001krm.3_Silent_p.G25G|PAX2_uc001kro.3_Silent_p.G25G|PAX2_uc001krn.3_Silent_p.G25G|PAX2_uc010qps.1_Silent_p.G24G|PAX2_uc001krp.1_Silent_p.G29G	NM_003990	NP_003981	Q02962	PAX2_HUMAN	paired box protein 2 isoform e	25	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity				0		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGCTCGGGGGGGTGTTTGTGA	0.657												
GBF1	8729	broad.mit.edu	37	10	104136818	104136818	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:104136818G>A	uc001kux.1	+	33	4652	c.4412G>A	c.(4411-4413)CGG>CAG	p.R1471Q	GBF1_uc001kuy.1_Missense_Mutation_p.R1471Q|GBF1_uc001kuz.1_Missense_Mutation_p.R1472Q	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1471					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CATGCCTCTCGGGGCGGGCAG	0.527												
PSD	5662	broad.mit.edu	37	10	104173924	104173924	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:104173924A>G	uc001kvg.1	-	5	1682	c.1155T>C	c.(1153-1155)CCT>CCC	p.P385P	PSD_uc001kvh.1_Silent_p.P6P|PSD_uc009xxd.1_Silent_p.P385P	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	385					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GAAAGGGCACAGGTGACTTGA	0.602												
TMEM180	79847	broad.mit.edu	37	10	104230805	104230805	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:104230805A>G	uc001kvt.2	+	5	854	c.635A>G	c.(634-636)CAG>CGG	p.Q212R	TMEM180_uc001kvs.2_Intron|TMEM180_uc010qql.1_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.2_Missense_Mutation_p.Q212R	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	212	Helical; (Potential).					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)		GGGGCCACACAGCTGCTGAGG	0.632												
TRIM8	81603	broad.mit.edu	37	10	104416854	104416854	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:104416854G>A	uc001kvz.2	+	6	1522	c.1399G>A	c.(1399-1401)GTC>ATC	p.V467I		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	467						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			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)		CAAGATTCTCGTCTGTTCTGT	0.637												
SHOC2	8036	broad.mit.edu	37	10	112745488	112745488	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:112745488A>G	uc001kzl.3	+	3	1155	c.806A>G	c.(805-807)CAG>CGG	p.Q269R	SHOC2_uc009xxx.2_Missense_Mutation_p.Q269R|SHOC2_uc010qrg.1_5'UTR|SHOC2_uc001kzn.2_Intron	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog	269	LRR 8.				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			ovary(1)|skin(1)	2				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CTTGACTTGCAGCACAATGAA	0.388												
HABP2	3026	broad.mit.edu	37	10	115338407	115338407	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:115338407G>A	uc001lai.3	+	7	693	c.590G>A	c.(589-591)GGC>GAC	p.G197D	HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_3'UTR	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	197	Kringle.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGCTATGTTGGCGATGGCTAC	0.502												
NRAP	4892	broad.mit.edu	37	10	115411594	115411594	+	Missense_Mutation	SNP	G	G	A	rs140934697	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:115411594G>A	uc001laj.2	-	7	807	c.643C>T	c.(643-645)CGG>TGG	p.R215W	NRAP_uc001lak.2_Missense_Mutation_p.R215W|NRAP_uc001lal.3_Missense_Mutation_p.R215W	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	215	Nebulin 4.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCCTTGCTCCGTAGCAGCTCA	0.393												
ATRNL1	26033	broad.mit.edu	37	10	117027824	117027824	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:117027824A>G	uc001lcg.2	+	13	2389	c.2003A>G	c.(2002-2004)TAC>TGC	p.Y668C		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	668	PSI 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GACAGATGTTACAGATATGCA	0.373												
EIF3A	8661	broad.mit.edu	37	10	120801952	120801952	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:120801952C>T	uc001ldu.2	-	19	3226	c.3080G>A	c.(3079-3081)GGA>GAA	p.G1027E	EIF3A_uc010qsu.1_Missense_Mutation_p.G993E|EIF3A_uc009xzg.1_Missense_Mutation_p.G66E	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	1027	Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|11.				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)		TCGCCAGCTTCCTCTGTCCTC	0.587												
INPP5F	22876	broad.mit.edu	37	10	121586929	121586929	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:121586929G>A	uc001leo.2	+	20	3202	c.3036G>A	c.(3034-3036)TCG>TCA	p.S1012S	INPP5F_uc001lep.2_Silent_p.S402S	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1012							phosphoric ester hydrolase activity	p.S1012S(1)		ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTCGGCCATCGCAATTAGATG	0.463												
DMBT1	1755	broad.mit.edu	37	10	124402674	124402674	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:124402674G>A	uc001lgk.1	+	53	7108	c.7002G>A	c.(7000-7002)TCG>TCA	p.S2334S	DMBT1_uc001lgl.1_Silent_p.S2324S|DMBT1_uc001lgm.1_Silent_p.S1706S|DMBT1_uc009xzz.1_Silent_p.S2333S|DMBT1_uc010qtx.1_Silent_p.S1054S|DMBT1_uc009yab.1_Silent_p.S1037S|DMBT1_uc009yac.1_Silent_p.S628S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2334	ZP.				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)				CCTACTCCTCGCCATCTCTTC	0.562												
ACADSB	36	broad.mit.edu	37	10	124803957	124803957	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:124803957G>A	uc001lhb.2	+	7	973	c.856G>A	c.(856-858)GCC>ACC	p.A286T	ACADSB_uc010qub.1_Missense_Mutation_p.A184T	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	286					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CTATAAGTATGCCATAGGGAG	0.358												
CTBP2	1488	broad.mit.edu	37	10	126683154	126683154	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:126683154C>A	uc009yak.2	-	7	951	c.664G>T	c.(664-666)GGC>TGC	p.G222C	CTBP2_uc009yal.2_Missense_Mutation_p.G222C|CTBP2_uc001lif.3_Missense_Mutation_p.G222C|CTBP2_uc001lih.3_Missense_Mutation_p.G222C|CTBP2_uc001lid.3_Missense_Mutation_p.G290C|CTBP2_uc001lie.3_Missense_Mutation_p.G762C	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	222					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCTGCACGCCCAGGGACCGC	0.552												
MMP21	118856	broad.mit.edu	37	10	127459133	127459133	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:127459133G>A	uc001liu.2	-	5	1007	c.1007C>T	c.(1006-1008)GCG>GTG	p.A336V		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	336	Hemopexin-like 1.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCAGTCAAACGCAGTATCAAA	0.378												
FAM196A	642938	broad.mit.edu	37	10	128952172	128952172	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:128952172C>T	uc001lju.1	-	2	1241	c.1200G>A	c.(1198-1200)ACG>ACA	p.T400T	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Intron|FAM196A_uc001ljv.1_Silent_p.T400T|FAM196A_uc009yap.1_Intron	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	400										ovary(2)	2						TGTCTTGCCCCGTCCGATATG	0.438												
FAM196A	642938	broad.mit.edu	37	10	128973723	128973723	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:128973723A>G	uc001lju.1	-	1	978	c.937T>C	c.(937-939)TGC>CGC	p.C313R	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.C313R|FAM196A_uc001ljv.1_Missense_Mutation_p.C313R|FAM196A_uc009yap.1_Missense_Mutation_p.C313R	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	313										ovary(2)	2						GGGGACAGGCACTGCATCGGG	0.657												
LRRC27	80313	broad.mit.edu	37	10	134147114	134147114	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:134147114C>T	uc010quw.1	+	2	281	c.86C>T	c.(85-87)GCC>GTC	p.A29V	STK32C_uc010quu.1_5'Flank|STK32C_uc009ybc.1_5'Flank|STK32C_uc009ybd.1_5'Flank|LRRC27_uc001llf.2_Missense_Mutation_p.A29V|LRRC27_uc010quv.1_Missense_Mutation_p.A29V|LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.A29V|LRRC27_uc001llj.2_5'Flank	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27 isoform a	29										ovary(1)	1		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGCTTGCCTGCCACCCCCTCC	0.547												
PWWP2B	170394	broad.mit.edu	37	10	134218819	134218819	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:134218819G>A	uc001lll.3	+	2	844	c.815G>A	c.(814-816)CGC>CAC	p.R272H	PWWP2B_uc009ybe.2_Missense_Mutation_p.R272H	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	272											0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		ATCCCCTCCCGCGTGCACGGC	0.711												
C10orf93	255352	broad.mit.edu	37	10	134752108	134752108	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:134752108C>T	uc001llt.1	-	5	597	c.521G>A	c.(520-522)CGT>CAT	p.R174H	C10orf93_uc001llu.2_Missense_Mutation_p.R174H	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	174							binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)		CAGCTCAGCACGCCACTCCTT	0.622												
ANO9	338440	broad.mit.edu	37	11	428583	428583	+	Silent	SNP	G	G	A	rs115389769	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:428583G>A	uc001lpi.2	-	13	1162	c.1077C>T	c.(1075-1077)TCC>TCT	p.S359S	ANO9_uc001lph.2_Silent_p.S52S|ANO9_uc010qvv.1_Silent_p.S215S	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	359	Extracellular (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4						TGAAGAGCGCGGAGGCCAGGA	0.672												
PHRF1	57661	broad.mit.edu	37	11	607394	607394	+	Silent	SNP	G	G	A	rs138408584	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:607394G>A	uc001lqe.2	+	14	2069	c.1938G>A	c.(1936-1938)GCG>GCA	p.A646A	PHRF1_uc010qwc.1_Silent_p.A645A|PHRF1_uc010qwd.1_Silent_p.A644A|PHRF1_uc010qwe.1_Silent_p.A642A|PHRF1_uc009ybz.1_Silent_p.A436A|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	646							RNA polymerase binding|zinc ion binding				0						CCTCTGCCGCGTCTAAGATCT	0.587												
DRD4	1815	broad.mit.edu	37	11	639920	639920	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:639920T>C	uc001lqp.1	+	3	671	c.671T>C	c.(670-672)GTG>GCG	p.V224A		NM_000797	NP_000788	P21917	DRD4_HUMAN	dopamine receptor D4	224	Cytoplasmic (Potential).				activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding				0		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	CGCTGGGAGGTGGCACGTCGC	0.741												
LRDD	55367	broad.mit.edu	37	11	800161	800161	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:800161C>T	uc001lro.1	-	14	2386	c.2244G>A	c.(2242-2244)CTG>CTA	p.L748L	SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Silent_p.L731L|LRDD_uc001lrl.1_Silent_p.L591L|LRDD_uc001lrm.1_Silent_p.L435L|LRDD_uc001lrn.1_Silent_p.L591L|LRDD_uc001lrp.1_Silent_p.L393L	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	leucine rich repeat and death domain containing	748					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCCATCCACAGGGCGTCTG	0.687												
AP2A2	161	broad.mit.edu	37	11	993307	993307	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:993307C>T	uc001lss.2	+	12	1657	c.1476C>T	c.(1474-1476)CAC>CAT	p.H492H	AP2A2_uc001lst.1_Silent_p.H493H|AP2A2_uc009yco.1_RNA|AP2A2_uc009ycq.1_Silent_p.H83H	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	492					axon guidance|endocytosis|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|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCGCGTGCCACGAGAACCTGG	0.632												
MUC6	4588	broad.mit.edu	37	11	1027176	1027176	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:1027176C>T	uc001lsw.2	-	18	2300	c.2249G>A	c.(2248-2250)CGG>CAG	p.R750Q		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	750					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)		GCAACTCAGCCGCCCGTTGAT	0.692												
MUC5B	727897	broad.mit.edu	37	11	1264182	1264182	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:1264182C>T	uc009ycr.1	+	47	8277	c.8151C>T	c.(8149-8151)ACC>ACT	p.T2717T	MUC5B_uc001ltb.2_Silent_p.T2027T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2024	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGTGCTTACCGCCACGGCCA	0.642												
MUC5B	727897	broad.mit.edu	37	11	1264202	1264202	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:1264202G>T	uc009ycr.1	+	47	8297	c.8171G>T	c.(8170-8172)GGG>GTG	p.G2724V	MUC5B_uc001ltb.2_Missense_Mutation_p.G2034V	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2031	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACAACTGGGGCCACCGGC	0.647												
NAP1L4	4676	broad.mit.edu	37	11	2997297	2997297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:2997297G>A	uc001lxc.2	-	4	271	c.130C>T	c.(130-132)CGA>TGA	p.R44*	NAP1L4_uc010qxm.1_Nonsense_Mutation_p.R44*|NAP1L4_uc010qxn.1_Nonsense_Mutation_p.R44*	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	44					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			ovary(1)	1		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TTGTCAAGTCGCTCCTGTAAA	0.428												
ZNF195	7748	broad.mit.edu	37	11	3380735	3380735	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:3380735G>A	uc001lxt.2	-	6	1681	c.1503C>T	c.(1501-1503)AAC>AAT	p.N501N	uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Silent_p.N478N|ZNF195_uc001lxs.2_Silent_p.N429N|ZNF195_uc010qxr.1_Silent_p.N482N|ZNF195_uc009ydz.2_Silent_p.N456N|ZNF195_uc001lxu.2_Silent_p.N433N	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	zinc finger protein 195 isoform 1	501	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCTTAAAGATGTTGCCACATT	0.413												
NUP98	4928	broad.mit.edu	37	11	3723954	3723954	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:3723954G>A	uc001lyh.2	-	23	3542	c.3251C>T	c.(3250-3252)GCC>GTC	p.A1084V	NUP98_uc001lyi.2_Missense_Mutation_p.A1084V|NUP98_uc001lyg.2_Intron	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1101					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACCTCAGGGGCTGGGCTGGG	0.517			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML							
TRIM68	55128	broad.mit.edu	37	11	4621678	4621678	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:4621678T>C	uc001lzf.1	-	7	1524	c.1286A>G	c.(1285-1287)TAT>TGT	p.Y429C	TRIM68_uc001lzg.1_Missense_Mutation_p.Y206C|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	429	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATGGGCCTCATAATCCACGAA	0.547												
OR51F1	256892	broad.mit.edu	37	11	4790421	4790421	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:4790421A>G	uc010qyl.1	-	1	727	c.727T>C	c.(727-729)TGT>CGT	p.C243R		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	243						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGGAGACACAGGTGCTGAAG	0.483												
OR51S1	119692	broad.mit.edu	37	11	4870217	4870217	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:4870217A>G	uc010qyo.1	-	1	222	c.222T>C	c.(220-222)CTT>CTC	p.L74L		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGACACACTAAGCAAGAAGA	0.572												
OR51G2	81282	broad.mit.edu	37	11	4936509	4936509	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:4936509C>T	uc001lzr.1	-	1	385	c.385G>A	c.(385-387)GTG>ATG	p.V129M		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGATAGCCACAAAGCGGTCA	0.488												
UBQLN3	50613	broad.mit.edu	37	11	5529133	5529133	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:5529133C>T	uc001may.1	-	2	1742	c.1656G>A	c.(1654-1656)ACG>ACA	p.T552T	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	552										ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACACTACCCGTCCCTGCTA	0.567												
CNGA4	1262	broad.mit.edu	37	11	6261425	6261425	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6261425C>T	uc001mco.2	+	4	508	c.401C>T	c.(400-402)CCG>CTG	p.P134L	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.P94L	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	134	Extracellular (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGCTGGGCCCGCACACACCC	0.617												
CCKBR	887	broad.mit.edu	37	11	6292700	6292700	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6292700A>G	uc001mcp.2	+	5	1464	c.1271A>G	c.(1270-1272)GAC>GGC	p.D424G	CCKBR_uc001mcq.2_Missense_Mutation_p.D352G|CCKBR_uc001mcr.2_Missense_Mutation_p.D407G|CCKBR_uc001mcs.2_Missense_Mutation_p.D493G	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	424	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)	CCCGATGAGGACCCTCCCACT	0.657												
SMPD1	6609	broad.mit.edu	37	11	6415678	6415678	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6415678C>T	uc001mcw.2	+	6	1911	c.1737C>T	c.(1735-1737)GGC>GGT	p.G579G	SMPD1_uc001mcv.1_RNA|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Silent_p.G535G|SMPD1_uc009yew.2_Silent_p.G578G	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	577			G -> S (in NPDA; also in patients with an intermediate form).		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)	ACCATAAGGGCCACCCACCCT	0.622												
APBB1	322	broad.mit.edu	37	11	6432422	6432422	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6432422G>A	uc001mdb.1	-	2	256	c.156C>T	c.(154-156)AGC>AGT	p.S52S	APBB1_uc001mdc.1_Silent_p.S52S|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	52					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)		CCCCCATGGCGCTGCGCAGGT	0.697												
DNHD1	144132	broad.mit.edu	37	11	6540866	6540866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6540866C>T	uc001mdw.3	+	8	1993	c.1429C>T	c.(1429-1431)CAG>TAG	p.Q477*	DNHD1_uc001mdp.2_Nonsense_Mutation_p.Q477*|DNHD1_uc001mdq.2_Nonsense_Mutation_p.Q166*	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	477					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACAGTGCCTACAGGAGCGAGT	0.522												
DCHS1	8642	broad.mit.edu	37	11	6646079	6646079	+	Silent	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6646079T>G	uc001mem.1	-	20	7577	c.7167A>C	c.(7165-7167)ACA>ACC	p.T2389T		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2389	Cadherin 23.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTGGGGGTGTGTGCTCAA	0.562												
OR10A4	283297	broad.mit.edu	37	11	6898661	6898661	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6898661C>T	uc010rat.1	+	1	783	c.783C>T	c.(781-783)TTC>TTT	p.F261F		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCACGTATTTCCGACCCCAAT	0.532												
NLRP14	338323	broad.mit.edu	37	11	7079548	7079548	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:7079548T>C	uc001mfb.1	+	8	2823	c.2500T>C	c.(2500-2502)TAT>CAT	p.Y834H		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	834	LRR 4.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGGCTGTGAGTATCTTTCTTT	0.448												
OR5P2	120065	broad.mit.edu	37	11	7817567	7817567	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:7817567T>C	uc001mfp.1	-	1	923	c.923A>G	c.(922-924)CAT>CGT	p.H308R		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACAAGCATCATGAGAAAGTAT	0.383												
GALNTL4	374378	broad.mit.edu	37	11	11470434	11470434	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:11470434G>T	uc001mjo.2	-	2	706	c.285C>A	c.(283-285)TCC>TCA	p.S95S		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	95	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CAAACAGAGAGGAGTCTGTGA	0.617												
GALNTL4	374378	broad.mit.edu	37	11	11643004	11643004	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:11643004G>A	uc001mjo.2	-	1	558	c.137C>T	c.(136-138)CCG>CTG	p.P46L		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	46	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GTCGGGCGCCGGCTCCTGCCC	0.562												
PDE3B	5140	broad.mit.edu	37	11	14882859	14882859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:14882859C>T	uc001mln.2	+	14	3186	c.2833C>T	c.(2833-2835)CGA>TGA	p.R945*	PDE3B_uc010rcr.1_Nonsense_Mutation_p.R894*	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	945	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						AGCAAAAGTTCGAGACTTGCA	0.403												
RPS13	6207	broad.mit.edu	37	11	17099016	17099016	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:17099016A>G	uc001mmp.2	-	2	64	c.32T>C	c.(31-33)CTG>CCG	p.L11P		NM_001017	NP_001008	P62277	RS13_HUMAN	ribosomal protein S13	11					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome				0						CGACTGGGACAGGCCCTTCCT	0.647												
ABCC8	6833	broad.mit.edu	37	11	17496449	17496449	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:17496449C>A	uc001mnc.2	-	2	400	c.274G>T	c.(274-276)GGC>TGC	p.G92C	ABCC8_uc010rcy.1_Missense_Mutation_p.G92C	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	92	Helical; Name=2; (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GACAGGATGCCCTCTGCAATC	0.542												
KCNC1	3746	broad.mit.edu	37	11	17758047	17758047	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:17758047C>T	uc001mnk.3	+	1	553	c.498C>T	c.(496-498)GGC>GGT	p.G166G	KCNC1_uc009yhc.1_Silent_p.G166G	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	166	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						GCCGGCCTGGCGGCTTTTGGC	0.687												
HPS5	11234	broad.mit.edu	37	11	18316699	18316699	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:18316699C>T	uc001mod.1	-	14	1930	c.1652G>A	c.(1651-1653)CGT>CAT	p.R551H	HPS5_uc001moe.1_Missense_Mutation_p.R437H|HPS5_uc001mof.1_Missense_Mutation_p.R437H	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	551						cytosol				ovary(1)|pancreas(1)|skin(1)	3						AGTAGTTTTACGCACAAAGCT	0.398									Hermansky-Pudlak_syndrome			
NAV2	89797	broad.mit.edu	37	11	19735499	19735499	+	Silent	SNP	C	C	T	rs147977739		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:19735499C>T	uc010rdm.1	+	1	619	c.258C>T	c.(256-258)TTC>TTT	p.F86F	NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Silent_p.F86F|LOC100126784_uc010rdl.1_3'UTR	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	86	CH.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						AAAACGGGTTCGATACCCAGG	0.607												
NAV2	89797	broad.mit.edu	37	11	20112544	20112544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:20112544G>T	uc001mpr.3	+	27	6002	c.5641G>T	c.(5641-5643)GAG>TAG	p.E1881*	NAV2_uc001mpp.2_Nonsense_Mutation_p.E1814*|NAV2_uc009yhx.2_Nonsense_Mutation_p.E942*|NAV2_uc009yhz.2_Nonsense_Mutation_p.E523*|NAV2_uc001mpu.2_Nonsense_Mutation_p.E316*	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1937	Potential.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CCAGCTCCGGGAGGCCATGAA	0.567												
NELL1	4745	broad.mit.edu	37	11	20940856	20940856	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:20940856G>A	uc001mqe.2	+	7	888	c.735G>A	c.(733-735)GAG>GAA	p.E245E	NELL1_uc001mqf.2_Silent_p.E245E|NELL1_uc009yid.2_Silent_p.E273E|NELL1_uc010rdo.1_Silent_p.E188E|NELL1_uc010rdp.1_Silent_p.E5E	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	245					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						ATTTACAAGAGCTTTTGGCCA	0.303												
BBOX1	8424	broad.mit.edu	37	11	27148884	27148884	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:27148884C>T	uc001mre.1	+	9	1416	c.1048C>T	c.(1048-1050)CGT>TGT	p.R350C	BBOX1_uc009yih.1_Missense_Mutation_p.R350C|BBOX1_uc001mrg.1_Missense_Mutation_p.R350C	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	350					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)	TCATGGCCGACGTAGCTATGA	0.413												
ELP4	26610	broad.mit.edu	37	11	31653829	31653829	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:31653829T>C	uc001mtb.2	+	7	839	c.804T>C	c.(802-804)GAT>GAC	p.D268D	ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.D268D|ELP4_uc010rdz.1_Silent_p.D269D	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	268					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3	Lung SC(675;0.225)					GGGGAGACGATATTTGCTGTG	0.398												
WT1	7490	broad.mit.edu	37	11	32421518	32421518	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:32421518C>T	uc001mtn.1	-	6	1270	c.1074G>A	c.(1072-1074)ACG>ACA	p.T358T	WT1_uc001mtl.1_Silent_p.T146T|WT1_uc001mtm.1_Silent_p.T129T|WT1_uc001mto.1_Silent_p.T358T|WT1_uc001mtp.1_Silent_p.T341T|WT1_uc001mtq.1_Silent_p.T341T|WT1_uc009yjs.1_RNA	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	290					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.K358fs*4(1)	EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AGACACCGTGCGTGTGTATTC	0.562			D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation			
LMO2	4005	broad.mit.edu	37	11	33881009	33881009	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:33881009C>T	uc001mve.2	-	3	809	c.370G>A	c.(370-372)GCC>ACC	p.A124T	LMO2_uc001mvc.2_Missense_Mutation_p.A117T|LMO2_uc001mvd.2_Missense_Mutation_p.A117T|LMO2_uc010rel.1_Missense_Mutation_p.A124T|LMO2_uc010rem.1_Missense_Mutation_p.A193T	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	LIM domain only 2 isoform 2	124	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			lung(1)	1						TTCTGACAGGCGGCGCATTTG	0.483			T	TRD@	T-ALL							
ABTB2	25841	broad.mit.edu	37	11	34378361	34378361	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:34378361G>A	uc001mvl.1	-	1	442	c.212C>T	c.(211-213)GCC>GTC	p.A71V		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	71							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCCGCCTCCGGCCCCTCCGCC	0.657												
LDLRAD3	143458	broad.mit.edu	37	11	36119923	36119923	+	Silent	SNP	C	C	T	rs143972981		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:36119923C>T	uc001mwk.1	+	4	403	c.366C>T	c.(364-366)AAC>AAT	p.N122N	LDLRAD3_uc010rey.1_Silent_p.N73N|LDLRAD3_uc010rez.1_Translation_Start_Site|LDLRAD3_uc010rfa.1_RNA	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain	122	Extracellular (Potential).|LDL-receptor class A 3.					integral to membrane	receptor activity			central_nervous_system(1)	1	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				ACTGCAAGAACGGCCTCTGTA	0.517												
ACCSL	390110	broad.mit.edu	37	11	44069803	44069803	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:44069803C>T	uc001mxw.1	+	1	273	c.217C>T	c.(217-219)CGC>TGC	p.R73C	ACCSL_uc009ykr.2_5'UTR	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	73							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						CCTTCTGAGTCGCTTAATATG	0.582												
ALX4	60529	broad.mit.edu	37	11	44296994	44296994	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:44296994C>A	uc001myb.2	-	2	785	c.681G>T	c.(679-681)GAG>GAT	p.E227D		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	227	Homeobox.				hair follicle development						0						TCTCCAGCTCCTCCAGCTGGT	0.617												
PRDM11	56981	broad.mit.edu	37	11	45204467	45204467	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:45204467G>A	uc001myo.2	+	5	630	c.381G>A	c.(379-381)CCG>CCA	p.P127P		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	127										upper_aerodigestive_tract(1)	1						ATGGCCCCCCGGTGTTTGTGT	0.607												
AMBRA1	55626	broad.mit.edu	37	11	46563764	46563764	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:46563764C>A	uc010rgu.1	-	7	2163	c.1803G>T	c.(1801-1803)CAG>CAT	p.Q601H	AMBRA1_uc010rgt.1_Missense_Mutation_p.Q167H|AMBRA1_uc009ylc.1_Missense_Mutation_p.Q601H|AMBRA1_uc001ncu.1_Missense_Mutation_p.Q511H|AMBRA1_uc001ncv.2_Missense_Mutation_p.Q511H|AMBRA1_uc001ncw.2_Missense_Mutation_p.Q511H|AMBRA1_uc001ncx.2_Missense_Mutation_p.Q601H	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	601	Ser-rich.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGCTGGGGACCTGCCAAGAGG	0.582												
ARHGAP1	392	broad.mit.edu	37	11	46717590	46717590	+	Missense_Mutation	SNP	A	A	G	rs142883832		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:46717590A>G	uc001ndd.2	-	2	137	c.68T>C	c.(67-69)CTG>CCG	p.L23P	ARHGAP1_uc009yle.1_Missense_Mutation_p.L23P|ARHGAP1_uc009ylf.1_Missense_Mutation_p.L23P	NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	23					Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGCCAGCTTCAGCTGGTTCAG	0.587												
NR1H3	10062	broad.mit.edu	37	11	47289880	47289880	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:47289880G>A	uc009ylm.2	+	9	1392	c.1171G>A	c.(1171-1173)GCC>ACC	p.A391T	MADD_uc001neq.2_5'Flank|MADD_uc001ner.1_5'Flank|MADD_uc001nev.1_5'Flank|MADD_uc001nes.1_5'Flank|MADD_uc001net.1_5'Flank|MADD_uc009yln.1_5'Flank|MADD_uc001neu.1_5'Flank|MADD_uc001nex.2_5'Flank|MADD_uc001nez.2_5'Flank|MADD_uc001new.2_5'Flank|NR1H3_uc010rhk.1_Missense_Mutation_p.A397T|NR1H3_uc001nek.2_Missense_Mutation_p.A346T|NR1H3_uc001nej.2_Missense_Mutation_p.A331T|NR1H3_uc001nel.2_Missense_Mutation_p.A410T|NR1H3_uc001nen.3_Missense_Mutation_p.A331T|NR1H3_uc001nem.2_Missense_Mutation_p.A391T|NR1H3_uc001nep.2_Missense_Mutation_p.A240T	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	391	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			ovary(2)|lung(1)	3						AGCCCTGCATGCCTACGTCTC	0.557												
MADD	8567	broad.mit.edu	37	11	47345868	47345868	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:47345868G>A	uc001ner.1	+	32	4786	c.4595G>A	c.(4594-4596)CGA>CAA	p.R1532Q	MADD_uc001neq.2_Missense_Mutation_p.R1473Q|MADD_uc001nev.1_Missense_Mutation_p.R1430Q|MADD_uc001nes.1_Missense_Mutation_p.R1450Q|MADD_uc001net.1_Missense_Mutation_p.R1493Q|MADD_uc009yln.1_Missense_Mutation_p.R1426Q|MADD_uc001neu.1_Missense_Mutation_p.R1430Q|MADD_uc001nex.2_Missense_Mutation_p.R1532Q|MADD_uc001nez.2_Missense_Mutation_p.R1429Q|MADD_uc001new.2_Missense_Mutation_p.R1472Q|MADD_uc009ylo.2_Missense_Mutation_p.R446Q	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1532					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		GCTGCCGCCCGACAGCAAAGC	0.582												
KBTBD4	55709	broad.mit.edu	37	11	47599055	47599055	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:47599055G>T	uc001nfx.2	-	2	668	c.497C>A	c.(496-498)GCC>GAC	p.A166D	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.A191D|KBTBD4_uc001nfz.2_Missense_Mutation_p.A182D|KBTBD4_uc001nfy.2_Missense_Mutation_p.A166D|NDUFS3_uc010rhn.1_5'Flank|NDUFS3_uc001nga.2_5'Flank	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	166	BACK.									ovary(1)|central_nervous_system(1)	2						ACAGTGCTTGGCAGCCGTATA	0.542												
AGBL2	79841	broad.mit.edu	37	11	47711857	47711857	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:47711857C>A	uc001ngg.2	-	9	1502	c.1402G>T	c.(1402-1404)GGC>TGC	p.G468C	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.G430C|AGBL2_uc001ngh.1_Missense_Mutation_p.G412C	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	468					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						ACCCAGGAGCCATTACTTTCT	0.493												
PTPRJ	5795	broad.mit.edu	37	11	48146561	48146561	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:48146561G>A	uc001ngp.3	+	6	1271	c.916G>A	c.(916-918)GCC>ACC	p.A306T	PTPRJ_uc001ngo.3_Missense_Mutation_p.A306T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	306	Extracellular (Potential).|Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						GAGCCCCACCGCCCCTGTGCA	0.587												
PTPRJ	5795	broad.mit.edu	37	11	48149417	48149417	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:48149417G>A	uc001ngp.3	+	7	1534	c.1179G>A	c.(1177-1179)TCG>TCA	p.S393S	PTPRJ_uc001ngo.3_Silent_p.S393S	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	393	Extracellular (Potential).|Fibronectin type-III 4.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						ATAACGAGTCGTCATCTAACT	0.512												
OR4S2	219431	broad.mit.edu	37	11	55419151	55419151	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:55419151C>T	uc001nhs.1	+	1	772	c.772C>T	c.(772-774)CGC>TGC	p.R258C		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	258	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				TATGTACATGCGCCCTGATAC	0.463												
OR5M1	390168	broad.mit.edu	37	11	56380328	56380328	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:56380328G>T	uc001nja.1	-	1	651	c.651C>A	c.(649-651)TCC>TCA	p.S217S		NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						TGAAAAGATAGGACAGAAGAA	0.448												
TNKS1BP1	85456	broad.mit.edu	37	11	57069612	57069612	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:57069612A>G	uc001njr.2	-	7	5082	c.4770T>C	c.(4768-4770)CCT>CCC	p.P1590P	TNKS1BP1_uc001njp.2_Silent_p.P162P|TNKS1BP1_uc001njq.2_Silent_p.P163P|TNKS1BP1_uc001njs.2_Silent_p.P1590P	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1590	Arg/Glu/Lys-rich (charged).				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)				AGGTACCCCCAGGCCGAATGA	0.597												
SSRP1	6749	broad.mit.edu	37	11	57099955	57099955	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:57099955G>A	uc001njt.2	-	7	1041	c.774C>T	c.(772-774)AGC>AGT	p.S258S		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	258					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						GGGGATCCAGGCTGATCTAGT	0.448												
SLC43A3	29015	broad.mit.edu	37	11	57177481	57177481	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:57177481A>G	uc001nkg.2	-	12	1584	c.1174T>C	c.(1174-1176)TAC>CAC	p.Y392H	PRG2_uc001nke.2_Intron|SLC43A3_uc001nkh.2_Missense_Mutation_p.Y392H|SLC43A3_uc010rjr.1_Missense_Mutation_p.Y405H|SLC43A3_uc009yme.2_Missense_Mutation_p.Y392H|SLC43A3_uc001nki.2_Missense_Mutation_p.Y392H	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	392					transmembrane transport	integral to membrane				central_nervous_system(1)	1						AAGGTGAGGTACTGGAGAGGG	0.647												
SERPING1	710	broad.mit.edu	37	11	57367766	57367766	+	Missense_Mutation	SNP	G	G	A	rs139035354	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:57367766G>A	uc001nkp.1	+	3	657	c.466G>A	c.(466-468)GCC>ACC	p.A156T	SERPING1_uc001nkq.1_Missense_Mutation_p.A156T|SERPING1_uc010rju.1_Missense_Mutation_p.A104T|SERPING1_uc010rjv.1_Missense_Mutation_p.A161T|SERPING1_uc001nkr.1_Missense_Mutation_p.A156T|SERPING1_uc009ymi.1_Missense_Mutation_p.A156T|SERPING1_uc009ymj.1_Missense_Mutation_p.A156T|SERPING1_uc001nks.1_Intron	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	156					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						GCTCTACCACGCCTTCTCAGC	0.542									Hereditary_Angioedema			
DTX4	23220	broad.mit.edu	37	11	58972170	58972170	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:58972170G>C	uc001nns.2	+	9	1905	c.1648G>C	c.(1648-1650)GCC>CCC	p.A550P	DTX4_uc001nnr.2_Missense_Mutation_p.A444P	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	550					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)				GCTGCTCGTGGCCTGGGATCG	0.522												
MPEG1	219972	broad.mit.edu	37	11	58978606	58978606	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:58978606A>G	uc001nnu.3	-	1	1889	c.1733T>C	c.(1732-1734)GTC>GCC	p.V578A		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	578	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				CCCGGATTTGACGCAATAGGA	0.592												
OR4D9	390199	broad.mit.edu	37	11	59283285	59283285	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:59283285A>G	uc010rkv.1	+	1	900	c.900A>G	c.(898-900)AAA>AAG	p.K300K		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCATGAGGAAACTGAAGAGAC	0.383												
TCN1	6947	broad.mit.edu	37	11	59622168	59622168	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:59622168T>C	uc001noj.2	-	7	1176	c.1078A>G	c.(1078-1080)AGT>GGT	p.S360G		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	360					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCATCACACTGAGGAAGACA	0.383												
MS4A14	84689	broad.mit.edu	37	11	60167907	60167907	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:60167907G>A	uc001npj.2	+	3	863	c.298G>A	c.(298-300)GAT>AAT	p.D100N	MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_Intron|MS4A14_uc001npk.2_Intron|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_Intron	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	100						integral to membrane	receptor activity			breast(1)	1						CACAGTAACCGATAAGAAATC	0.308												
VWCE	220001	broad.mit.edu	37	11	61040743	61040743	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:61040743A>G	uc001nra.2	-	13	1906	c.1627T>C	c.(1627-1629)TGC>CGC	p.C543R	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	543	VWFC 3.					extracellular region	calcium ion binding			ovary(1)	1						TCTCGGGGGCAGGCCAGCTCA	0.667												
DDB1	1642	broad.mit.edu	37	11	61089821	61089821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:61089821C>A	uc001nrc.3	-	9	1295	c.1069G>T	c.(1069-1071)GGA>TGA	p.G357*	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Nonsense_Mutation_p.G357*|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Nonsense_Mutation_p.G357*|DDB1_uc009ynl.1_Nonsense_Mutation_p.G244*	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	357	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						ACAATGGGTCCTAAGTTGGTA	0.468								NER				
DAK	26007	broad.mit.edu	37	11	61113929	61113929	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:61113929C>T	uc001nre.2	+	18	1939	c.1682C>T	c.(1681-1683)GCA>GTA	p.A561V	DAK_uc009ynm.1_3'UTR	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	561	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						GGGGCGGTGGCAGCTGCTGCC	0.627												
DAGLA	747	broad.mit.edu	37	11	61504705	61504705	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:61504705G>A	uc001nsa.2	+	14	1534	c.1423G>A	c.(1423-1425)GCG>ACG	p.A475T		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	475	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		CTCCCTGGGCGCGGGCACTGC	0.657												
INCENP	3619	broad.mit.edu	37	11	61916008	61916008	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:61916008G>T	uc001nsw.1	+	16	2467	c.2265G>T	c.(2263-2265)CTG>CTT	p.L755L	INCENP_uc009ynw.1_Silent_p.L759L|INCENP_uc001nsx.1_Silent_p.L751L|INCENP_uc001nsy.1_Silent_p.L169L	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	755	Potential.				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						AGAGGGAACTGGAGGAGAAGA	0.652												
EML3	256364	broad.mit.edu	37	11	62376074	62376074	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:62376074C>T	uc001ntu.1	-	9	1358	c.1050G>A	c.(1048-1050)CTG>CTA	p.L350L	EML3_uc001ntr.1_Silent_p.L322L|EML3_uc001nts.1_Silent_p.L322L|EML3_uc001ntt.1_Silent_p.L234L|EML3_uc010rly.1_Silent_p.L350L|EML3_uc009yny.1_Silent_p.L133L	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	350	WD 1.					cytoplasm|microtubule	protein binding			ovary(1)	1						CAATCTCCTGCAGTTTCAACA	0.577												
GANAB	23193	broad.mit.edu	37	11	62396391	62396391	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:62396391G>A	uc001nub.2	-	17	2063	c.2030C>T	c.(2029-2031)GCC>GTC	p.A677V	GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Missense_Mutation_p.A699V|GANAB_uc001nuc.2_Missense_Mutation_p.A580V|GANAB_uc010rma.1_Missense_Mutation_p.A585V|GANAB_uc010rmb.1_Missense_Mutation_p.A563V	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	677					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						GTCCAAGTGGGCATGTGCCCG	0.552												
GANAB	23193	broad.mit.edu	37	11	62400140	62400140	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:62400140G>A	uc001nub.2	-	9	926	c.893C>T	c.(892-894)TCT>TTT	p.S298F	GANAB_uc001nua.2_Missense_Mutation_p.S320F|GANAB_uc001nuc.2_Missense_Mutation_p.S201F|GANAB_uc010rma.1_Missense_Mutation_p.S206F|GANAB_uc010rmb.1_Missense_Mutation_p.S184F	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	298					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						CACAGGCACAGACCCATACAA	0.537												
MARK2	2011	broad.mit.edu	37	11	63670157	63670157	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:63670157A>G	uc001nxw.2	+	13	1898	c.1319A>G	c.(1318-1320)GAC>GGC	p.D440G	MARK2_uc001nxx.2_Missense_Mutation_p.D440G|MARK2_uc001nxy.2_Missense_Mutation_p.D439G|MARK2_uc001nxv.3_Missense_Mutation_p.D439G|MARK2_uc001nxz.3_Missense_Mutation_p.D406G|MARK2_uc009yoy.2_Missense_Mutation_p.D406G	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	440					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						CCTGAGGAGGACCGGGAGTCA	0.607												
SLC22A12	116085	broad.mit.edu	37	11	64368251	64368251	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64368251C>T	uc001oam.1	+	9	2186	c.1439C>T	c.(1438-1440)GCC>GTC	p.A480V	SLC22A12_uc001oal.1_Missense_Mutation_p.A259V|SLC22A12_uc009yps.1_Missense_Mutation_p.A446V|SLC22A12_uc001oan.1_Missense_Mutation_p.A372V|SLC22A12_uc009ypt.2_Missense_Mutation_p.A298V	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	480	Helical; (Potential).				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						CGTGGAGGAGCCATCCTGGGG	0.657												
NRXN2	9379	broad.mit.edu	37	11	64419024	64419024	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64419024A>G	uc001oar.2	-	15	3060	c.2621T>C	c.(2620-2622)GTG>GCG	p.V874A	NRXN2_uc001oas.2_Missense_Mutation_p.V834A|NRXN2_uc001oaq.2_Missense_Mutation_p.V541A	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GTTGGAGGGCACCACGGAGAT	0.567											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NRXN2	9379	broad.mit.edu	37	11	64428422	64428422	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64428422A>G	uc001oar.2	-	11	2427	c.1988T>C	c.(1987-1989)ATA>ACA	p.I663T	NRXN2_uc001oas.2_Missense_Mutation_p.I632T|NRXN2_uc001oaq.2_Missense_Mutation_p.I330T	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						ACGCCCATCTATGAAGAGGTC	0.687												
NRXN2	9379	broad.mit.edu	37	11	64480999	64480999	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64480999C>T	uc001oar.2	-	3	612	c.173G>A	c.(172-174)CGC>CAC	p.R58H	NRXN2_uc001oas.2_Missense_Mutation_p.R58H	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						GGCGTTGGTGCGCAGGCTGAA	0.761												
PYGM	5837	broad.mit.edu	37	11	64518009	64518009	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64518009A>G	uc001oax.3	-	17	2833	c.2016T>C	c.(2014-2016)ACT>ACC	p.T672T	PYGM_uc001oay.3_Silent_p.T584T	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	672					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CTGAGGCTTCAGTGCCCGCAG	0.607												
PYGM	5837	broad.mit.edu	37	11	64518013	64518013	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64518013C>T	uc001oax.3	-	17	2829	c.2012G>A	c.(2011-2013)GGC>GAC	p.G671D	PYGM_uc001oay.3_Missense_Mutation_p.G583D	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	671					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	GGCTTCAGTGCCCGCAGTGGA	0.607												
SF1	7536	broad.mit.edu	37	11	64536983	64536983	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64536983C>T	uc001obb.1	-	6	955	c.578G>A	c.(577-579)GGC>GAC	p.G193D	SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.G167D|SF1_uc001oaz.1_Missense_Mutation_p.G318D|SF1_uc001oba.1_Missense_Mutation_p.G193D|SF1_uc001obc.1_Missense_Mutation_p.G193D|SF1_uc001obd.1_Missense_Mutation_p.G193D|SF1_uc001obe.1_Missense_Mutation_p.G78D|SF1_uc010rno.1_Missense_Mutation_p.G78D	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	193	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3						CAACATCTGGCCATCTTTGCG	0.517												
MAP4K2	5871	broad.mit.edu	37	11	64567831	64567831	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64567831G>T	uc001obh.2	-	11	851	c.759C>A	c.(757-759)GCC>GCA	p.A253A	MAP4K2_uc001obi.2_Silent_p.A253A	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	253	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						TCTTGGTCAGGGCCAGTTTGA	0.607												
ATG2A	23130	broad.mit.edu	37	11	64669448	64669448	+	Missense_Mutation	SNP	C	C	T	rs143404952		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64669448C>T	uc001obx.2	-	29	4220	c.4105G>A	c.(4105-4107)GGC>AGC	p.G1369S	ATG2A_uc001obw.2_Missense_Mutation_p.G134S	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1369							protein binding			ovary(1)|central_nervous_system(1)	2						ATGCCCAGGCCGGGAGCATCA	0.607												
PPP2R5B	5526	broad.mit.edu	37	11	64697972	64697972	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64697972C>T	uc001oby.2	+	8	1387	c.802C>T	c.(802-804)CTG>TTG	p.L268L	PPP2R5B_uc001obz.2_Silent_p.L268L	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	268					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						TGGCTTTGCGCTGCCCCTGAA	0.602												
C11orf85	283129	broad.mit.edu	37	11	64717891	64717891	+	Silent	SNP	G	G	A	rs112044647	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64717891G>A	uc001ocb.1	-	4	233	c.159C>T	c.(157-159)CGC>CGT	p.R53R	C11orf85_uc001occ.1_RNA|C11orf85_uc001ocd.1_Intron	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	hypothetical protein LOC283129	53											0						CCAAGACCACGCGGACAGAAT	0.284												
SNX15	29907	broad.mit.edu	37	11	64806048	64806048	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64806048C>T	uc001oci.3	+	10	1322	c.669C>T	c.(667-669)GGC>GGT	p.G223G	SNX15_uc009ypy.2_Silent_p.G223G|SNX15_uc001ocj.2_Silent_p.G223G|SNX15_uc001ock.2_Intron|SAC3D1_uc010rnv.1_5'Flank|SAC3D1_uc001ocm.2_5'Flank	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	sorting nexin 15 isoform A	223					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			ovary(1)	1						CTGCAGAAGGCGCAGCCCCCA	0.622												
SAC3D1	29901	broad.mit.edu	37	11	64812122	64812122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:64812122C>T	uc001ocm.2	+	2	1389	c.1000C>T	c.(1000-1002)CGA>TGA	p.R334*	SAC3D1_uc010rnv.1_Nonsense_Mutation_p.R321*	NM_013299	NP_037431			SAC3 domain containing 1												0						GAGCAAACTTCGAGGACGTAC	0.612												
MAP3K11	4296	broad.mit.edu	37	11	65374866	65374866	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:65374866C>T	uc001oew.2	-	5	1857	c.1364G>A	c.(1363-1365)CGC>CAC	p.R455H	MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.R198H|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	455	Leucine-zipper 2.|Arg-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						CGTCAGCTCGCGCTCGAACAC	0.741												
EFEMP2	30008	broad.mit.edu	37	11	65638739	65638739	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:65638739C>T	uc001ofy.3	-	4	450	c.256G>A	c.(256-258)GCC>ACC	p.A86T	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.A86T	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	86					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		TTGATGACGGCAGCGGAGCGG	0.632												
CTSW	1521	broad.mit.edu	37	11	65651024	65651024	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:65651024A>G	uc001ogc.1	+	10	1108	c.1066A>G	c.(1066-1068)AAG>GAG	p.K356E	CTSW_uc001ogb.1_3'UTR	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	356					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		TGGCATCACCAAGTTCCCGCT	0.612												
CATSPER1	117144	broad.mit.edu	37	11	65787662	65787662	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:65787662G>A	uc001ogt.2	-	9	2212	c.2074C>T	c.(2074-2076)CGG>TGG	p.R692W		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	692	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						TCTTGGATCCGGGCGGCCCTC	0.667												
CATSPER1	117144	broad.mit.edu	37	11	65793450	65793450	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:65793450C>A	uc001ogt.2	-	1	539	c.401G>T	c.(400-402)GGG>GTG	p.G134V		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	134	His-rich.|Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						CTGATGGAACCCACCGTATTG	0.562												
SPTBN2	6712	broad.mit.edu	37	11	66468267	66468267	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:66468267C>A	uc001ojd.2	-	16	3375	c.3303G>T	c.(3301-3303)GAG>GAT	p.E1101D		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1101	Spectrin 8.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCAGGAGGGCCTCTGCCTCAG	0.682												
PC	5091	broad.mit.edu	37	11	66616719	66616719	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:66616719C>A	uc001ojn.1	-	20	3319	c.3270G>T	c.(3268-3270)AAG>AAT	p.K1090N	PC_uc001ojo.1_Missense_Mutation_p.K1090N|PC_uc001ojp.1_Missense_Mutation_p.K1090N|PC_uc001ojm.1_Missense_Mutation_p.K79N	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	1090					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCTGGGTGTCCTTGACCAAGA	0.637												
SYT12	91683	broad.mit.edu	37	11	66813344	66813344	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:66813344T>A	uc009yrl.2	+	7	1318	c.1088T>A	c.(1087-1089)CTC>CAC	p.L363H	SYT12_uc001oju.2_Missense_Mutation_p.L363H	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	363	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						GCCATTGTGCTCCAGGTGAGG	0.622												
TMEM134	80194	broad.mit.edu	37	11	67234859	67234859	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:67234859G>A	uc001olq.1	-	4	398	c.330C>T	c.(328-330)AGC>AGT	p.S110S	TMEM134_uc001olp.1_Silent_p.S101S|TMEM134_uc001olr.1_Silent_p.S110S|TMEM134_uc001ols.1_RNA|TMEM134_uc001olt.1_RNA|TMEM134_uc010rpt.1_Silent_p.S101S|TMEM134_uc009yrx.2_Silent_p.S110S|TMEM134_uc010rpu.1_Missense_Mutation_p.A105V|TMEM134_uc001olu.3_Missense_Mutation_p.A114V	NM_025124	NP_079400	Q9H6X4	TM134_HUMAN	transmembrane protein 134 isoform a	110	Cytoplasmic (Potential).					integral to membrane					0						GTTGGGTCCAGCTGGGTGGCA	0.667												
PITPNM1	9600	broad.mit.edu	37	11	67259513	67259513	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:67259513G>A	uc001olx.2	-	23	3915	c.3726C>T	c.(3724-3726)AGC>AGT	p.S1242S	PITPNM1_uc001olw.2_Silent_p.S524S|PITPNM1_uc001oly.2_Silent_p.S1242S|PITPNM1_uc001olz.2_Silent_p.S1241S	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	1242					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						CTCACTCCTCGCTGTCCAGCT	0.672												
PITPNM1	9600	broad.mit.edu	37	11	67269502	67269502	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:67269502C>A	uc001olx.2	-	4	660	c.471G>T	c.(469-471)GAG>GAT	p.E157D	PITPNM1_uc001oly.2_Missense_Mutation_p.E157D|PITPNM1_uc001olz.2_Missense_Mutation_p.E157D	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	157					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	p.E157E(1)		lung(2)|central_nervous_system(1)	3						GCCGGGGGTCCTCTTCTGCTT	0.622												
NDUFV1	4723	broad.mit.edu	37	11	67379644	67379644	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:67379644C>T	uc001omj.2	+	9	1369	c.1216C>T	c.(1216-1218)CCG>TCG	p.P406S	NDUFV1_uc010rpv.1_Missense_Mutation_p.P305S|NDUFV1_uc001oml.2_Missense_Mutation_p.P399S|NDUFV1_uc001omk.3_Missense_Mutation_p.P397S|NDUFV1_uc010rpw.1_Missense_Mutation_p.P115S	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	406					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	GGATGCCCGGCCGGCCGAGAT	0.612												
NDUFS8	4728	broad.mit.edu	37	11	67799757	67799757	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:67799757T>C	uc001onc.2	+	3	170	c.63T>C	c.(61-63)CCT>CCC	p.P21P	NDUFS8_uc010rpz.1_Silent_p.P21P|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Silent_p.P21P	NM_002496	NP_002487	O00217	NDUS8_HUMAN	NADH dehydrogenase ubiquinone Fe-S 8 precursor	21					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	TTGCAGGACCTCCTGGTGGCC	0.602												
LRP5	4041	broad.mit.edu	37	11	68154036	68154036	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:68154036T>C	uc001ont.2	+	6	1343	c.1268T>C	c.(1267-1269)GTC>GCC	p.V423A	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	423	LDL-receptor class B 6.|Beta-propeller 2.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						GGCATCGCGGTCGACTGGGTG	0.667												
IGHMBP2	3508	broad.mit.edu	37	11	68703985	68703985	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:68703985G>A	uc001ook.1	+	13	2139	c.2037G>A	c.(2035-2037)CGG>CGA	p.R679R	IGHMBP2_uc001ool.1_Silent_p.R303R|IGHMBP2_uc001oom.1_Silent_p.R257R	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	679	SS DNA-binding (By similarity).				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAAGCCAGCGGCAGGAGGGAG	0.637												
SHANK2	22941	broad.mit.edu	37	11	70319223	70319223	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:70319223C>T	uc001oqc.2	-	22	5379	c.5301G>A	c.(5299-5301)TCG>TCA	p.S1767S	SHANK2_uc010rqn.1_Silent_p.S1179S|SHANK2_uc001opz.2_Silent_p.S1172S|uc009ysn.1_Silent_p.I41I|SHANK2_uc001opy.2_Silent_p.S103S	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1388					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTTGCAGTATCGAGGGGGATG	0.522												
KRTAP5-11	440051	broad.mit.edu	37	11	71293852	71293852	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:71293852C>T	uc001oqu.2	-	1	70	c.32G>A	c.(31-33)GGC>GAC	p.G11D		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	11						keratin filament					0						ACAGCCAGAGCCACAGCCTCC	0.647												
NUMA1	4926	broad.mit.edu	37	11	71715028	71715028	+	Missense_Mutation	SNP	G	G	A	rs149006752		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:71715028G>A	uc001orl.1	-	26	6413	c.6241C>T	c.(6241-6243)CGC>TGC	p.R2081C	IL18BP_uc009ysu.1_Intron|NUMA1_uc001orj.2_Missense_Mutation_p.R263C|NUMA1_uc009ysw.1_Missense_Mutation_p.R1648C|NUMA1_uc001ork.1_Missense_Mutation_p.R945C|NUMA1_uc001orm.1_Missense_Mutation_p.R2067C	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2081					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GTTCCACTGCGAGTGTTGGGG	0.637			T	RARA	APL							
NUMA1	4926	broad.mit.edu	37	11	71724872	71724872	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:71724872A>G	uc001orl.1	-	15	3849	c.3677T>C	c.(3676-3678)CTC>CCC	p.L1226P	NUMA1_uc009ysw.1_Missense_Mutation_p.L789P|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.L1226P|NUMA1_uc001orn.2_Missense_Mutation_p.L789P|NUMA1_uc009ysx.1_Missense_Mutation_p.L1226P|NUMA1_uc001oro.1_Missense_Mutation_p.L1226P	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1226	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GCTGCTGATGAGGCTATTTTT	0.602			T	RARA	APL							
NUMA1	4926	broad.mit.edu	37	11	71725797	71725797	+	Missense_Mutation	SNP	G	G	A	rs61756008	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:71725797G>A	uc001orl.1	-	15	2924	c.2752C>T	c.(2752-2754)CGC>TGC	p.R918C	NUMA1_uc009ysw.1_Missense_Mutation_p.R481C|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.R918C|NUMA1_uc001orn.2_Missense_Mutation_p.R481C|NUMA1_uc009ysx.1_Missense_Mutation_p.R918C|NUMA1_uc001oro.1_Missense_Mutation_p.R918C	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	918	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GTCTCCAAGCGGGCCACCTCT	0.602			T	RARA	APL							
NUMA1	4926	broad.mit.edu	37	11	71732293	71732293	+	Silent	SNP	G	G	A	rs141785503	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:71732293G>A	uc001orl.1	-	8	589	c.417C>T	c.(415-417)GAC>GAT	p.D139D	NUMA1_uc001ork.1_Silent_p.D139D|NUMA1_uc001orm.1_Silent_p.D139D|NUMA1_uc009ysx.1_Silent_p.D139D|NUMA1_uc001oro.1_Silent_p.D139D|NUMA1_uc009ysy.1_Silent_p.D139D|NUMA1_uc001orp.2_Silent_p.D139D|NUMA1_uc001orq.2_Silent_p.D139D	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	139					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						GGTTTAGCCCGTCCTCATGGT	0.478			T	RARA	APL							
P2RY6	5031	broad.mit.edu	37	11	73008546	73008546	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:73008546G>T	uc001otm.2	+	4	1388	c.983G>T	c.(982-984)CGC>CTC	p.R328L	P2RY6_uc001otn.2_Missense_Mutation_p.R328L|P2RY6_uc001oto.2_Missense_Mutation_p.R328L|P2RY6_uc001otp.2_Missense_Mutation_p.R328L|P2RY6_uc001otq.2_Missense_Mutation_p.R328L|P2RY6_uc001otr.2_Missense_Mutation_p.R328L|P2RY6_uc001ots.2_Missense_Mutation_p.R328L	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	328	Cytoplasmic (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(1)	1						AGGCAGGGTCGCTGAGTCCTC	0.577												
C2CD3	26005	broad.mit.edu	37	11	73760478	73760478	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:73760478C>A	uc001ouu.2	-	27	5492	c.5265G>T	c.(5263-5265)CAG>CAT	p.Q1755H	C2CD3_uc001out.2_RNA	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1755						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					TTATCTGCCCCTGGCACTCTC	0.507												
C2CD3	26005	broad.mit.edu	37	11	73834038	73834038	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:73834038C>T	uc001ouu.2	-	8	1587	c.1360G>A	c.(1360-1362)GCA>ACA	p.A454T	C2CD3_uc001ouv.2_Missense_Mutation_p.A454T	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	454						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					CTTACAGGTGCTGTATAAAAT	0.338												
PPME1	51400	broad.mit.edu	37	11	73933379	73933379	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:73933379A>G	uc001ouw.2	+	4	410	c.311A>G	c.(310-312)CAG>CGG	p.Q104R	PPME1_uc009yty.2_5'UTR	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	104					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0	Breast(11;3.29e-05)					AGTAGAGTTCAGTGTAGGATT	0.358												
POLD3	10714	broad.mit.edu	37	11	74315840	74315840	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:74315840G>A	uc001ovf.1	+	3	294	c.219_splice	c.e3+1	p.S73_splice	POLD3_uc009yua.1_Intron	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3						base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)					TGGACATTCCGTAAGTTCTCA	0.378												
GDPD5	81544	broad.mit.edu	37	11	75161000	75161000	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:75161000G>A	uc001owo.3	-	8	941	c.404C>T	c.(403-405)ACG>ATG	p.T135M	GDPD5_uc001owp.3_Missense_Mutation_p.T135M|GDPD5_uc001own.3_Translation_Start_Site|GDPD5_uc009yuc.2_Translation_Start_Site|GDPD5_uc009yud.2_Intron|GDPD5_uc009yue.1_Intron	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain	135	Helical; (Potential).				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			ovary(1)	1						GGCCACCACCGTGGAAGCCAG	0.627												
MYO7A	4647	broad.mit.edu	37	11	76867932	76867932	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:76867932G>A	uc001oyb.2	+	7	889	c.617G>A	c.(616-618)CGC>CAC	p.R206H	MYO7A_uc010rsl.1_Missense_Mutation_p.R206H|MYO7A_uc010rsm.1_Missense_Mutation_p.R195H|MYO7A_uc001oyc.2_Missense_Mutation_p.R206H	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	206	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	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						AAGACCATCCGCAATGACAAC	0.582												
KCTD14	65987	broad.mit.edu	37	11	77727916	77727916	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:77727916C>T	uc001oyw.3	-	2	516	c.491G>A	c.(490-492)CGG>CAG	p.R164Q		NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	potassium channel tetramerisation domain	164						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GCTGGACTTCCGTGCTGTTAT	0.532												
KCTD21	283219	broad.mit.edu	37	11	77885356	77885356	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:77885356C>A	uc001ozb.2	-	2	320	c.245G>T	c.(244-246)AGG>ATG	p.R82M		NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	potassium channel tetramerisation domain	82						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTCGGCCTCCCTGCGGAGCAG	0.582												
ODZ4	26011	broad.mit.edu	37	11	78369318	78369318	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:78369318C>T	uc001ozl.3	-	34	8558	c.8095G>A	c.(8095-8097)GTG>ATG	p.V2699M	ODZ4_uc001ozk.3_Missense_Mutation_p.V924M|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2699	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GCTTGGCGCACGGCTCTCTGC	0.667												
ODZ4	26011	broad.mit.edu	37	11	78423525	78423525	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:78423525A>G	uc001ozl.3	-	26	4517	c.4054_splice	c.e26+1	p.G1352_splice		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4						signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GCAAGGCCTTACCCCTGGGAT	0.438												
GRM5	2915	broad.mit.edu	37	11	88323855	88323855	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:88323855G>A	uc001pcq.2	-	6	1804	c.1604C>T	c.(1603-1605)ACA>ATA	p.T535I	GRM5_uc009yvm.2_Missense_Mutation_p.T535I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	535	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTTACAAGGTGTACAGGTCCA	0.393												
FAT3	120114	broad.mit.edu	37	11	92087421	92087421	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:92087421T>G	uc001pdj.3	+	1	2160	c.2143T>G	c.(2143-2145)TTT>GTT	p.F715V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	715	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTTCTTGACTTTTATTCAAT	0.403										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92087601	92087601	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:92087601A>G	uc001pdj.3	+	1	2340	c.2323A>G	c.(2323-2325)AAT>GAT	p.N775D		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	775	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAGTTGCTTTAATATTGATAT	0.393										TCGA Ovarian(4;0.039)		
C11orf54	28970	broad.mit.edu	37	11	93494790	93494790	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:93494790T>C	uc009ywi.2	+	10	1215	c.884T>C	c.(883-885)TTA>TCA	p.L295S	C11orf54_uc001pef.2_Missense_Mutation_p.L245S|C11orf54_uc001peg.2_Missense_Mutation_p.L295S|C11orf54_uc001peh.2_Missense_Mutation_p.L295S|C11orf54_uc001pei.2_Missense_Mutation_p.L276S|C11orf54_uc001pej.2_Missense_Mutation_p.L276S|C11orf54_uc001pek.2_Missense_Mutation_p.L184S	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	hypothetical protein LOC28970	295						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGATACTTCTTACCTGCAGAG	0.373												
AMOTL1	154810	broad.mit.edu	37	11	94564661	94564661	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:94564661C>T	uc001pfb.2	+	6	1772	c.1602C>T	c.(1600-1602)TAC>TAT	p.Y534Y	AMOTL1_uc001pfc.2_Silent_p.Y484Y	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	534	Potential.					cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GCAGGGAATACGAAGGGCATG	0.408												
MAML2	84441	broad.mit.edu	37	11	95724791	95724791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:95724791G>A	uc001pfw.1	-	3	3521	c.2236C>T	c.(2236-2238)CAA>TAA	p.Q746*		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	746					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AACAGTGATTGCTGGGAGTTC	0.493			T	MECT1|CRTC3	salivary gland mucoepidermoid							
DDI1	414301	broad.mit.edu	37	11	103907643	103907643	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:103907643G>T	uc001phr.2	+	1	336	c.93G>T	c.(91-93)AAG>AAT	p.K31N	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	31	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GAAACTTCAAGGTCCTCTGCG	0.567												
DDI1	414301	broad.mit.edu	37	11	103908618	103908618	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:103908618G>A	uc001phr.2	+	1	1311	c.1068G>A	c.(1066-1068)ACG>ACA	p.T356T	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	356					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCACTGGCACGCAGACTTATT	0.463												
CASP4	837	broad.mit.edu	37	11	104825595	104825595	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:104825595A>G	uc001pid.1	-	2	214	c.141T>C	c.(139-141)GAT>GAC	p.D47D	CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Silent_p.D47D|CASP4_uc010ruy.1_Silent_p.D47D	NM_001225	NP_001216	P49662	CASP4_HUMAN	caspase 4 isoform alpha precursor	47	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			lung(2)|ovary(1)|skin(1)	4		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CAGTTTTAGCATCGTAATATT	0.403												
KIAA1826	84437	broad.mit.edu	37	11	105880389	105880389	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:105880389C>T	uc001piy.2	-	3	1084	c.911G>A	c.(910-912)CGC>CAC	p.R304H	KIAA1826_uc001piz.2_Missense_Mutation_p.R304H	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	304	Potential.					nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		CAGTTGCAAGCGTTCTCGCTC	0.418												
ARHGAP20	57569	broad.mit.edu	37	11	110494938	110494938	+	Missense_Mutation	SNP	T	T	C	rs73553992	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:110494938T>C	uc001pkz.1	-	5	736	c.451A>G	c.(451-453)ATG>GTG	p.M151V	ARHGAP20_uc001pky.1_Missense_Mutation_p.M128V|ARHGAP20_uc009yyb.1_Missense_Mutation_p.M115V|ARHGAP20_uc001pla.1_Missense_Mutation_p.M115V	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	151	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AAGGATTTCATGGCATTGGTG	0.388												
ARHGAP20	57569	broad.mit.edu	37	11	110582930	110582930	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:110582930C>T	uc001pkz.1	-	2	310	c.25G>A	c.(25-27)GAG>AAG	p.E9K	ARHGAP20_uc001pky.1_5'Flank|ARHGAP20_uc009yyb.1_Intron|ARHGAP20_uc001pla.1_Intron	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	9					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCTAGAGTCTCCTGCTGGGGG	0.612												
NCAM1	4684	broad.mit.edu	37	11	113078026	113078026	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:113078026C>T	uc009yyq.1	+	6	1012	c.318C>T	c.(316-318)ACC>ACT	p.T106T	NCAM1_uc001pno.2_Silent_p.T106T	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	224	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGAATGCCACCGCCAACCTCG	0.527												
TTC12	54970	broad.mit.edu	37	11	113215128	113215128	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:113215128C>T	uc001pnu.2	+	13	1225	c.1120C>T	c.(1120-1122)CGG>TGG	p.R374W	TTC12_uc001pnv.2_Missense_Mutation_p.R380W|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.R224W	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	374							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGAGAGCGGACGGAGCCTGAT	0.597												
DRD2	1813	broad.mit.edu	37	11	113286217	113286217	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:113286217G>A	uc001pnz.2	-	4	970	c.649C>T	c.(649-651)CGC>TGC	p.R217C	DRD2_uc010rwv.1_Missense_Mutation_p.R216C|DRD2_uc001poa.3_Missense_Mutation_p.R217C|DRD2_uc001pob.3_Missense_Mutation_p.R217C|DRD2_uc009yyr.1_Missense_Mutation_p.R217C	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	217	Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CGGCGTCTGCGGAGGACAATG	0.572												
USP28	57646	broad.mit.edu	37	11	113674571	113674571	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:113674571C>T	uc001poh.2	-	22	2720	c.2687G>A	c.(2686-2688)CGA>CAA	p.R896Q	USP28_uc001pog.2_Missense_Mutation_p.R572Q|USP28_uc010rwy.1_Missense_Mutation_p.R739Q|USP28_uc001poi.2_Missense_Mutation_p.R219Q	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	896					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGACACTTTTCGGAACAAACT	0.333												
APOA1	335	broad.mit.edu	37	11	116707013	116707013	+	Silent	SNP	G	G	A	rs148950234	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:116707013G>A	uc001ppu.1	-	4	394	c.315C>T	c.(313-315)GGC>GGT	p.G105G	APOA1_uc001ppv.1_Silent_p.G105G	NM_000039	NP_000030	P02647	APOA1_HUMAN	apolipoprotein A-I preproprotein	105	10 X approximate tandem repeats.|2.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCTGCCTCAGGCCCTCTGTCT	0.587												
SIK3	23387	broad.mit.edu	37	11	116717120	116717120	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:116717120C>A	uc001ppy.2	-	23	3820	c.3784G>T	c.(3784-3786)GGC>TGC	p.G1262C	SIK3_uc001ppz.2_Missense_Mutation_p.G1101C|SIK3_uc001pqa.2_Missense_Mutation_p.G1202C|SIK3_uc001ppw.2_Missense_Mutation_p.G619C|SIK3_uc001ppx.2_Missense_Mutation_p.G640C	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	1262						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						TGTTACACGCCTGCCTGCTCC	0.542												
CEP164	22897	broad.mit.edu	37	11	117265851	117265851	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:117265851C>T	uc001prc.2	+	23	3004	c.2857C>T	c.(2857-2859)CGG>TGG	p.R953W	CEP164_uc001prb.2_Missense_Mutation_p.R956W|CEP164_uc010rxk.1_Missense_Mutation_p.R927W|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.R386W	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	953	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGAGACCGCCCGGAGGGAGAA	0.562												
TMPRSS4	56649	broad.mit.edu	37	11	117985944	117985944	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:117985944C>T	uc010rxo.1	+	11	1392	c.1101C>T	c.(1099-1101)ACC>ACT	p.T367T	TMPRSS4_uc010rxp.1_Silent_p.T362T|TMPRSS4_uc010rxq.1_Silent_p.T220T|TMPRSS4_uc010rxr.1_Silent_p.T342T|TMPRSS4_uc010rxs.1_Silent_p.T327T|TMPRSS4_uc009yzu.2_Intron|TMPRSS4_uc010rxt.1_Silent_p.T342T	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4 isoform 1	367	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GGGAAGTCACCGAGAAGATGA	0.572												
TMEM25	84866	broad.mit.edu	37	11	118403685	118403685	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:118403685G>T	uc010rye.1	+	4	610	c.436G>T	c.(436-438)GGC>TGC	p.G146C	TMEM25_uc010ryd.1_Missense_Mutation_p.G146C|TMEM25_uc001ptk.3_Missense_Mutation_p.G146C|TMEM25_uc001pth.2_Missense_Mutation_p.G146C|TMEM25_uc009zad.2_Missense_Mutation_p.G146C|TMEM25_uc001pti.2_Missense_Mutation_p.G42C|TMEM25_uc010ryf.1_Intron|TMEM25_uc001ptl.2_Missense_Mutation_p.G146C|TMEM25_uc001ptm.2_Missense_Mutation_p.G146C|TMEM25_uc001ptn.2_Missense_Mutation_p.G146C	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 1	146	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCAGGGCCCAGGCCTCCTGGT	0.592												
DPAGT1	1798	broad.mit.edu	37	11	118972338	118972338	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:118972338G>A	uc001pvi.2	-	1	448	c.28C>T	c.(28-30)CCG>TCG	p.P10S	DPAGT1_uc001pvj.2_5'UTR|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_5'UTR|DPAGT1_uc010ryz.1_Missense_Mutation_p.P10S|DPAGT1_uc001pvm.1_5'Flank|DPAGT1_uc010rza.1_5'UTR	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	UDP-N-acetylglucosamine-dolichyl-phosphate	10	Helical; (Potential).				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|ovary(1)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATCAGCAGCGGCATGGGCAAT	0.637											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RNF26	79102	broad.mit.edu	37	11	119206877	119206877	+	Missense_Mutation	SNP	C	C	T	rs150700766		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:119206877C>T	uc001pwh.2	+	1	1641	c.1045C>T	c.(1045-1047)CCT>TCT	p.P349S		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	349							zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		CAGAGTGACACCTGTCAGGGG	0.577												
USP2	9099	broad.mit.edu	37	11	119230923	119230923	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:119230923G>A	uc001pwm.3	-	3	1091	c.796C>T	c.(796-798)CTG>TTG	p.L266L	USP2_uc001pwl.3_Silent_p.L57L|USP2_uc001pwn.3_Silent_p.L23L	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	266					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)		AGACCAGCCAGACCCTGGGCA	0.507												
OAF	220323	broad.mit.edu	37	11	120097590	120097590	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:120097590C>T	uc001pxb.2	+	3	673	c.432C>T	c.(430-432)GTC>GTT	p.V144V		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	OAF homolog precursor	144											0		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ACATGGATGTCGCTGTCAACT	0.622												
ARHGEF12	23365	broad.mit.edu	37	11	120331450	120331450	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:120331450A>T	uc001pxl.1	+	27	2604	c.2597A>T	c.(2596-2598)GAA>GTA	p.E866V	ARHGEF12_uc009zat.2_Missense_Mutation_p.E847V|ARHGEF12_uc010rzn.1_Missense_Mutation_p.E763V|ARHGEF12_uc009zau.1_Missense_Mutation_p.E763V	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	866	DH.				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)		CAGATTGGGGAAGATTTGCTG	0.323			T	MLL	AML							
ARHGEF12	23365	broad.mit.edu	37	11	120351055	120351055	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:120351055C>T	uc001pxl.1	+	38	4160	c.4153C>T	c.(4153-4155)CGT>TGT	p.R1385C	ARHGEF12_uc009zat.2_Missense_Mutation_p.R1366C|ARHGEF12_uc009zau.1_Missense_Mutation_p.R1282C	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1385					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)		TTTTGATGCCCGTGAAGCACA	0.438			T	MLL	AML							
SORL1	6653	broad.mit.edu	37	11	121424682	121424682	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:121424682C>A	uc001pxx.2	+	17	2383	c.2303C>A	c.(2302-2304)TCC>TAC	p.S768Y		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	768	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTGAGGAAATCCATCTACCGC	0.562												
OR8D1	283159	broad.mit.edu	37	11	124180508	124180508	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:124180508C>T	uc010sag.1	-	1	155	c.155G>A	c.(154-156)AGC>AAC	p.S52N		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AAGTAGAGGGCTGACTGCAAT	0.512												
OR8D2	283160	broad.mit.edu	37	11	124189658	124189658	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:124189658C>T	uc010sah.1	-	1	436	c.436G>A	c.(436-438)GCT>ACT	p.A146T		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TATACCACAGCCATCATTATG	0.458												
ROBO3	64221	broad.mit.edu	37	11	124742974	124742974	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:124742974G>A	uc001qbc.2	+	9	1717	c.1525G>A	c.(1525-1527)GCC>ACC	p.A509T		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	509	Ig-like C2-type 5.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCTGTACATCGCCAATGTGCA	0.562												
ROBO3	64221	broad.mit.edu	37	11	124748530	124748530	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:124748530C>T	uc001qbc.2	+	23	3563	c.3371C>T	c.(3370-3372)ACG>ATG	p.T1124M	ROBO3_uc001qbd.2_Missense_Mutation_p.T49M|ROBO3_uc010sar.1_Missense_Mutation_p.T173M|ROBO3_uc001qbe.2_Missense_Mutation_p.T49M|ROBO3_uc001qbf.1_Missense_Mutation_p.T8M	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	1124	Cytoplasmic (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGTCACCTGACGGAGCCCAGC	0.597												
PKNOX2	63876	broad.mit.edu	37	11	125300002	125300002	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:125300002A>T	uc001qbu.2	+	12	1471	c.1157A>T	c.(1156-1158)CAG>CTG	p.Q386L	PKNOX2_uc010saz.1_Missense_Mutation_p.Q357L|PKNOX2_uc010sba.1_Missense_Mutation_p.Q357L|PKNOX2_uc010sbb.1_Missense_Mutation_p.Q322L|PKNOX2_uc001qbv.2_Missense_Mutation_p.Q151L	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	386						nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGGGTGCTGCAGCAGCAGGGC	0.627												
ETS1	2113	broad.mit.edu	37	11	128333507	128333507	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:128333507T>C	uc010sbs.1	-	7	1323	c.1007A>G	c.(1006-1008)CAG>CGG	p.Q336R	ETS1_uc001qej.2_Missense_Mutation_p.Q380R|ETS1_uc009zch.2_Missense_Mutation_p.Q120R|ETS1_uc009zcg.2_Intron	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	336	ETS.			SGPIQL -> RRPPAA (in Ref. 6; AAA52409).	cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CTGCCATAGCTGGATTGGTCC	0.463												
ETS1	2113	broad.mit.edu	37	11	128350152	128350152	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:128350152G>A	uc010sbs.1	-	6	1241	c.925C>T	c.(925-927)CGG>TGG	p.R309W	ETS1_uc001qej.2_Missense_Mutation_p.R353W|ETS1_uc009zch.2_Missense_Mutation_p.R93W|ETS1_uc009zcg.2_Intron	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	309					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCACGGTCCCGCACATAGTCC	0.597												
IGSF9B	22997	broad.mit.edu	37	11	133790109	133790109	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:133790109A>G	uc001qgx.3	-	18	3742	c.3511T>C	c.(3511-3513)TAT>CAT	p.Y1171H		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1171	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGGGGCTCATACCACCGGGTG	0.692												
IGSF9B	22997	broad.mit.edu	37	11	133790638	133790638	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:133790638G>A	uc001qgx.3	-	18	3213	c.2982C>T	c.(2980-2982)TCC>TCT	p.S994S		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	994	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ACGACATGACGGAGCTCAGGG	0.652												
IGSF9B	22997	broad.mit.edu	37	11	133806042	133806042	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:133806042A>G	uc001qgx.3	-	6	958	c.727T>C	c.(727-729)TCC>CCC	p.S243P	IGSF9B_uc001qgy.1_Missense_Mutation_p.S85P	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	243	Extracellular (Potential).|Ig-like 3.					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCATCCTGGGAGATGTTGACG	0.607												
NCAPD3	23310	broad.mit.edu	37	11	134048793	134048793	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:134048793C>T	uc001qhd.1	-	21	3204	c.2598G>A	c.(2596-2598)CTG>CTA	p.L866L	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	866					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)		TGGCTGGACACAGCTGGGCTA	0.428												
NCAPD3	23310	broad.mit.edu	37	11	134062672	134062672	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:134062672G>A	uc001qhd.1	-	16	2563	c.1957C>T	c.(1957-1959)CAT>TAT	p.H653Y	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	653					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)		TGACTGTGATGCCGGATGTTC	0.602												
B3GAT1	27087	broad.mit.edu	37	11	134253714	134253714	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:134253714G>T	uc001qhq.2	-	4	742	c.481C>A	c.(481-483)CCA>ACA	p.P161T	B3GAT1_uc001qhr.2_Missense_Mutation_p.P161T|B3GAT1_uc010scv.1_Missense_Mutation_p.P174T	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	161	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGGATGCGTGGGTCGCGGGCG	0.716												
B3GAT1	27087	broad.mit.edu	37	11	134253811	134253811	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:134253811C>T	uc001qhq.2	-	4	645	c.384G>A	c.(382-384)CCG>CCA	p.P128P	B3GAT1_uc001qhr.2_Silent_p.P128P|B3GAT1_uc010scv.1_Silent_p.P141P	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	128	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GCGCGGTCAGCGGCGTCCGGC	0.716												
SLC6A13	6540	broad.mit.edu	37	12	344291	344291	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:344291G>T	uc001qic.1	-	7	849	c.796C>A	c.(796-798)CTG>ATG	p.L266M	SLC6A13_uc009zdj.1_Missense_Mutation_p.L266M|SLC6A13_uc010sdl.1_Missense_Mutation_p.L174M|SLC6A13_uc010sdm.1_Missense_Mutation_p.L147M	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	266					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTTGGGTACAGGTAAAACTGA	0.562												
ERC1	23085	broad.mit.edu	37	12	1346032	1346032	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:1346032C>T	uc001qjb.2	+	13	2690	c.2449C>T	c.(2449-2451)CGG>TGG	p.R817W	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.R789W|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.R817W|ERC1_uc010sdv.1_Missense_Mutation_p.R569W|ERC1_uc009zdp.2_Missense_Mutation_p.R457W|ERC1_uc001qje.2_RNA	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	817	Potential.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGCGCGACGACGGGAGGACAA	0.458												
DCP1B	196513	broad.mit.edu	37	12	2113468	2113468	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:2113468C>A	uc001qjx.1	-	1	210	c.130G>T	c.(130-132)GGC>TGC	p.G44C	DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.G44C	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	44					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GCCCGATGGCCGAAGGTGTAC	0.687												
TULP3	7289	broad.mit.edu	37	12	3047378	3047378	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:3047378C>A	uc010seh.1	+	10	1203	c.1122C>A	c.(1120-1122)TCC>TCA	p.S374S	TULP3_uc009zec.1_Silent_p.S101S|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Silent_p.S374S|TULP3_uc010sei.1_Silent_p.S198S	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3 isoform 1	374					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACACTCAGTCCTATGTCCTCA	0.527												
C12orf5	57103	broad.mit.edu	37	12	4460518	4460518	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:4460518C>T	uc001qmp.2	+	5	435	c.356C>T	c.(355-357)CCG>CTG	p.P119L		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	119						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GTGTTTACACCGCCCGGAGGA	0.498												
NDUFA9	4704	broad.mit.edu	37	12	4796210	4796210	+	Missense_Mutation	SNP	G	G	A	rs3210082		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:4796210G>A	uc001qnc.2	+	11	1080	c.1070G>A	c.(1069-1071)CGC>CAC	p.R357H	NDUFA9_uc010ses.1_Missense_Mutation_p.R138H	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	357					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	CGGCGTCATCGCACTTACCGC	0.522												
VWF	7450	broad.mit.edu	37	12	6101135	6101135	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:6101135A>G	uc001qnn.1	-	38	6898	c.6648T>C	c.(6646-6648)TGT>TGC	p.C2216C	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2216	E2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	AGTGCCGGGGACAGCCATGCT	0.562												
TAPBPL	55080	broad.mit.edu	37	12	6562694	6562694	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:6562694G>A	uc001qog.3	+	3	615	c.377G>A	c.(376-378)CGC>CAC	p.R126H	LOC678655_uc001qob.2_5'Flank|LOC678655_uc001qoc.2_5'Flank|LOC678655_uc009zel.1_5'Flank|LOC678655_uc009zem.1_5'Flank|LOC678655_uc001qof.2_5'Flank|TAPBPL_uc001qoh.3_5'UTR|TAPBPL_uc001qoi.1_RNA	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	TAP binding protein-like precursor	126	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane					0						GAGATCTCCCGCTACTTTCTC	0.577												
NCAPD2	9918	broad.mit.edu	37	12	6623974	6623974	+	Missense_Mutation	SNP	G	G	A	rs150197479		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:6623974G>A	uc001qoo.2	+	9	921	c.875G>A	c.(874-876)CGA>CAA	p.R292Q	NCAPD2_uc009zen.1_Missense_Mutation_p.R164Q|NCAPD2_uc010sfd.1_Missense_Mutation_p.R247Q	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	292	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						GAGCTGAGTCGAGACCCTTCA	0.473												
IFFO1	25900	broad.mit.edu	37	12	6650773	6650773	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:6650773C>T	uc001qpd.1	-	8	1513	c.1479G>A	c.(1477-1479)CGG>CGA	p.R493R	IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Silent_p.R133R|IFFO1_uc001qpb.1_Silent_p.R170R|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Silent_p.R505R|IFFO1_uc001qpf.1_Silent_p.R496R|IFFO1_uc001qoz.1_Silent_p.R134R|IFFO1_uc001qpc.1_Silent_p.R497R|IFFO1_uc001qpg.2_Silent_p.R134R	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan isoform 2	493	Potential.					intermediate filament					0						CGTGCAGGTGCCGGTTCATGT	0.642												
C12orf53	196500	broad.mit.edu	37	12	6806668	6806668	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:6806668G>T	uc001qqf.1	-	3	384	c.308C>A	c.(307-309)CCC>CAC	p.P103H	C12orf53_uc001qqg.1_Missense_Mutation_p.P103H	NM_153685	NP_710152	Q8IYJ0	CL053_HUMAN	hypothetical protein LOC196500 precursor	103	Extracellular (Potential).					integral to membrane					0						GATAGCCCAGGGGTATTGGGA	0.622												
USP5	8078	broad.mit.edu	37	12	6970249	6970249	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:6970249A>G	uc001qri.3	+	12	1536	c.1477A>G	c.(1477-1479)ATG>GTG	p.M493V	USP5_uc001qrh.3_Missense_Mutation_p.M493V	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	493					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						GCCTGTGCCCATGGATGCAGC	0.562												
C1S	716	broad.mit.edu	37	12	7177347	7177347	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:7177347G>A	uc001qsj.2	+	15	2178	c.1459G>A	c.(1459-1461)GTT>ATT	p.V487I	C1S_uc001qsk.2_Missense_Mutation_p.V487I|C1S_uc001qsl.2_Missense_Mutation_p.V487I|C1S_uc009zfr.2_Missense_Mutation_p.V320I|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	487	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AACAATGTATGTTGGGTCCAC	0.532												
C1RL	51279	broad.mit.edu	37	12	7249743	7249743	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:7249743G>A	uc001qsn.2	-	6	725	c.708C>T	c.(706-708)GTC>GTT	p.V236V	C1RL_uc009zft.2_Missense_Mutation_p.S252L	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	236					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			pancreas(1)	1						CAATGGGGGTGACTGGCCGTC	0.602												
DPPA3	359787	broad.mit.edu	37	12	7867867	7867867	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:7867867G>A	uc001qtf.2	+	2	249	c.171G>A	c.(169-171)TCG>TCA	p.S57S		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	stella	57				S -> L (in Ref. 2; AAO39708 and 3; AAH62480/AAI25146).		cytoplasm|nucleus					0				Kidney(36;0.0887)		CCCCTCTATCGGAAGCTTTAC	0.478												
C3AR1	719	broad.mit.edu	37	12	8212777	8212777	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:8212777G>A	uc001qtv.1	-	2	97	c.5C>T	c.(4-6)GCG>GTG	p.A2V		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	2	Extracellular (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)		AGAGAAAGACGCCATTGCTAA	0.368												
A2M	2	broad.mit.edu	37	12	9223124	9223124	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:9223124A>G	uc001qvk.1	-	32	4267	c.4154T>C	c.(4153-4155)ATG>ACG	p.M1385T	A2M_uc001qvj.1_Missense_Mutation_p.M427T|A2M_uc009zgk.1_Missense_Mutation_p.M1235T	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	1385					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GCCAGAGACCATCTTCACATC	0.448												
PRB1	5542	broad.mit.edu	37	12	11506748	11506748	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:11506748G>C	uc001qzw.1	-	3	326	c.289C>G	c.(289-291)CCA>GCA	p.P97A	PRB1_uc001qzu.1_Missense_Mutation_p.P97A|PRB1_uc001qzv.1_Missense_Mutation_p.P97A	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	158	6.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).			extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTCCTTGTGGTTTTCCTGGA	0.607												
PRB2	653247	broad.mit.edu	37	12	11546660	11546660	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:11546660G>C	uc010shk.1	-	3	387	c.352C>G	c.(352-354)CCA>GCA	p.P118A		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTCCTTGTGGCTTTCCTGGA	0.597												
ATF7IP	55729	broad.mit.edu	37	12	14650664	14650664	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:14650664G>A	uc001rbw.2	+	15	3628	c.3470G>A	c.(3469-3471)AGC>AAC	p.S1157N	ATF7IP_uc001rbx.2_Missense_Mutation_p.S1156N|ATF7IP_uc001rby.3_Missense_Mutation_p.S1157N|ATF7IP_uc001rca.2_Missense_Mutation_p.S1157N	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	1157	Interaction with MBD1.|Fibronectin type-III.				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						GAAGCTGCCAGCACATCTCTG	0.557												
GUCY2C	2984	broad.mit.edu	37	12	14809483	14809483	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:14809483G>T	uc001rcd.2	-	12	1570	c.1433C>A	c.(1432-1434)CCT>CAT	p.P478H		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	478	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						GGTCTCCAGAGGAAAGATATT	0.373												
MGST1	4257	broad.mit.edu	37	12	16516816	16516816	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:16516816C>A	uc001rdf.2	+	4	374	c.309C>A	c.(307-309)GCC>GCA	p.A103A	MGST1_uc001rdg.2_Silent_p.A103A|MGST1_uc009zih.1_Intron|MGST1_uc001rdh.2_Silent_p.A103A|MGST1_uc001rdi.2_Silent_p.A103A	NM_145792	NP_665735	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	103	Helical; (By similarity).				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity				0		Hepatocellular(102;0.121)			Glutathione(DB00143)	CCTCTACAGCCATCCTGCACT	0.458												
PDE3A	5139	broad.mit.edu	37	12	20799536	20799536	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:20799536A>G	uc001reh.1	+	11	2386	c.2364A>G	c.(2362-2364)TCA>TCG	p.S788S		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	788	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCAGTGATTCAGGTATGTACG	0.373												
RASSF8	11228	broad.mit.edu	37	12	26217573	26217573	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:26217573G>A	uc001rgx.2	+	3	467	c.246G>A	c.(244-246)CCG>CCA	p.P82P	RASSF8_uc001rgy.2_Silent_p.P82P|RASSF8_uc001rgz.2_Silent_p.P82P|RASSF8_uc009zjd.1_Silent_p.P82P|RASSF8_uc009zje.1_Silent_p.P82P	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family	82	Ras-associating.				signal transduction						0	Colorectal(261;0.0847)					GAACTGGGCCGTCTCTCAGTG	0.483												
CCDC91	55297	broad.mit.edu	37	12	28603172	28603172	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:28603172T>A	uc001riq.2	+	8	857	c.841T>A	c.(841-843)TCT>ACT	p.S281T	CCDC91_uc001rio.2_Missense_Mutation_p.S251T|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.S281T|CCDC91_uc001rir.2_Missense_Mutation_p.S119T|CCDC91_uc009zjl.2_Missense_Mutation_p.S83T	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	GGA binding partner	281	Potential.|Homodimerization.				protein transport	Golgi apparatus|membrane				central_nervous_system(1)	1	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GATTCAGCAATCTCAAGAACA	0.333												
FAR2	55711	broad.mit.edu	37	12	29460683	29460683	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:29460683T>G	uc001ris.3	+	5	785	c.638T>G	c.(637-639)ATG>AGG	p.M213R	FAR2_uc001rit.2_Missense_Mutation_p.M213R|FAR2_uc009zjm.2_Missense_Mutation_p.M116R|uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	213					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						TTGGGAGAAATGGTGGTGCAG	0.488												
DDX11	1663	broad.mit.edu	37	12	31250897	31250897	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:31250897G>A	uc001rjt.1	+	18	2092	c.1841G>A	c.(1840-1842)CGG>CAG	p.R614Q	DDX11_uc001rjr.1_Missense_Mutation_p.R614Q|DDX11_uc001rjs.1_Missense_Mutation_p.R614Q|DDX11_uc001rju.1_Missense_Mutation_p.R292Q|DDX11_uc001rjv.1_Missense_Mutation_p.R614Q|DDX11_uc001rjw.1_Missense_Mutation_p.R588Q|DDX11_uc009zjn.1_RNA	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	614					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AAGGAATGCCGGGCAGTGGTC	0.582										Multiple Myeloma(12;0.14)		
H3F3C	440093	broad.mit.edu	37	12	31944762	31944762	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:31944762G>A	uc001rkr.2	-	1	414	c.339C>T	c.(337-339)CAC>CAT	p.H113H		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	histone H3-like	113					nucleosome assembly	nucleosome|nucleus	DNA binding				0						CTCTCTTAGCGTGGATGGCAC	0.537										HNSCC(67;0.2)		
FGD4	121512	broad.mit.edu	37	12	32755213	32755213	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:32755213C>T	uc001rkz.2	+	7	1432	c.955C>T	c.(955-957)CGT>TGT	p.R319C	FGD4_uc001rlc.2_Missense_Mutation_p.R404C|FGD4_uc001rky.2_Missense_Mutation_p.R71C|FGD4_uc001rla.2_Translation_Start_Site|FGD4_uc010ske.1_Missense_Mutation_p.R431C|FGD4_uc001rlb.1_RNA	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	319	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CATGACAGAACGTATTCCCCA	0.343												
ALG10B	144245	broad.mit.edu	37	12	38714328	38714328	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:38714328A>C	uc001rln.3	+	3	874	c.735A>C	c.(733-735)AAA>AAC	p.K245N	ALG10B_uc001rlo.3_Missense_Mutation_p.K215N|ALG10B_uc010skk.1_Missense_Mutation_p.K185N	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	asparagine-linked glycosylation 10 homolog B	245	Cytoplasmic (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			ovary(2)|skin(1)	3	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TGTCCTTTAAAAACTTGAGTA	0.368												
LRRK2	120892	broad.mit.edu	37	12	40758800	40758800	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:40758800T>C	uc001rmg.3	+	49	7459	c.7338T>C	c.(7336-7338)CGT>CGC	p.R2446R	LRRK2_uc009zjw.2_Silent_p.R1284R|LRRK2_uc001rmi.2_Silent_p.R1279R	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2446					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)				GACTTATACGTGTAATTTACA	0.388												
ARID2	196528	broad.mit.edu	37	12	46230387	46230387	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:46230387G>A	uc001ros.1	+	7	721	c.721G>A	c.(721-723)GTT>ATT	p.V241I	ARID2_uc001ror.2_Missense_Mutation_p.V241I|ARID2_uc009zkg.1_5'Flank|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	241					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAAAGACATCGTTGATGATAA	0.274												
ARID2	196528	broad.mit.edu	37	12	46240687	46240687	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:46240687T>C	uc001ros.1	+	12	1547	c.1547T>C	c.(1546-1548)GTG>GCG	p.V516A	ARID2_uc001ror.2_Missense_Mutation_p.V516A|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.V143A	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	516					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAGGAATAGTGGAAATAGAT	0.358												
SLC38A4	55089	broad.mit.edu	37	12	47173760	47173760	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:47173760C>A	uc001rpi.2	-	8	946	c.547G>T	c.(547-549)GCA>TCA	p.A183S	SLC38A4_uc001rpj.2_Missense_Mutation_p.A183S|SLC38A4_uc009zkl.2_Missense_Mutation_p.A183S	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	183	Extracellular (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)					CCCATGAATGCTCTGATTACT	0.373												
COL2A1	1280	broad.mit.edu	37	12	48369230	48369230	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:48369230G>A	uc001rqu.2	-	51	3937	c.3756C>T	c.(3754-3756)GAC>GAT	p.D1252D	COL2A1_uc001rqt.2_Silent_p.D33D|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.D1183D	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1252					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)	CCACCTCGGCGTCATGCTGTC	0.647												
COL2A1	1280	broad.mit.edu	37	12	48372127	48372127	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:48372127C>A	uc001rqu.2	-	43	3131	c.2950G>T	c.(2950-2952)GGT>TGT	p.G984C	COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.G915C	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	984	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)	CCAGGCAGACCGACGATGCCT	0.647												
SENP1	29843	broad.mit.edu	37	12	48442868	48442868	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:48442868C>A	uc001rqx.2	-	14	1901	c.1455G>T	c.(1453-1455)AAG>AAT	p.K485N	SENP1_uc001rqw.2_Missense_Mutation_p.K485N|SENP1_uc001rqy.2_Missense_Mutation_p.K286N|SENP1_uc001rqz.2_Missense_Mutation_p.K286N|SENP1_uc009zkx.2_Missense_Mutation_p.K485N	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	485	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)				TTGGCAAGCCCTTCTCTTTAC	0.383												
ADCY6	112	broad.mit.edu	37	12	49170308	49170308	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49170308C>T	uc001rsh.3	-	6	2098	c.1438G>A	c.(1438-1440)GTG>ATG	p.V480M	ADCY6_uc001rsj.3_Missense_Mutation_p.V480M|ADCY6_uc001rsi.3_Missense_Mutation_p.V480M|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	480	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	ATP binding|metal ion binding				0						CCGCAGTGCACGCGCCCGCTG	0.622												
ADCY6	112	broad.mit.edu	37	12	49171486	49171486	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49171486C>T	uc001rsh.3	-	3	1708	c.1048G>A	c.(1048-1050)GTT>ATT	p.V350I	ADCY6_uc001rsj.3_Missense_Mutation_p.V350I|ADCY6_uc001rsi.3_Missense_Mutation_p.V350I|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	350	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	ATP binding|metal ion binding				0						TCCATGGCAACGTGCTGGGGC	0.488												
FKBP11	51303	broad.mit.edu	37	12	49319210	49319210	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49319210A>C	uc001rsp.2	-	1	121	c.2T>G	c.(1-3)ATG>AGG	p.M1R	FKBP11_uc010sma.1_5'Flank|FKBP11_uc001rsq.3_Missense_Mutation_p.M1R|FKBP11_uc010smb.1_Missense_Mutation_p.M1R	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11 isoform 1 precursor	1					protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						GCGCAGGGTCATGACTGGGCG	0.657												
DDN	23109	broad.mit.edu	37	12	49391774	49391774	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49391774C>T	uc001rsv.1	-	2	903	c.885G>A	c.(883-885)GGG>GGA	p.G295G	uc001rsw.2_5'Flank	NM_015086	NP_055901	O94850	DEND_HUMAN	dendrin	295						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				large_intestine(1)	1						CTGGGGATCCCCCCAAGAGAC	0.657												
MLL2	8085	broad.mit.edu	37	12	49426526	49426526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49426526G>A	uc001rta.3	-	39	11962	c.11962C>T	c.(11962-11964)CAG>TAG	p.Q3988*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3988	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						TGTTGTTGCTGAGGAGACAGT	0.378			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
MLL2	8085	broad.mit.edu	37	12	49434350	49434350	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49434350G>A	uc001rta.3	-	31	7203	c.7203C>T	c.(7201-7203)CGC>CGT	p.R2401R		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2401	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGGGCAGTGAGCGAGGGGGCA	0.642			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
RHEBL1	121268	broad.mit.edu	37	12	49460477	49460477	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49460477T>C	uc001rtc.1	-	4	407	c.200A>G	c.(199-201)TAC>TGC	p.Y67C	RHEBL1_uc001rtd.1_Missense_Mutation_p.Y63C|RHEBL1_uc009zlc.1_RNA	NM_144593	NP_653194	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1 precursor	67					positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			lung(1)|breast(1)	2						CAGAATGCTGTACTCATCCTG	0.488												
KCNH3	23416	broad.mit.edu	37	12	49937285	49937285	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49937285G>T	uc001ruh.1	+	5	1067	c.807G>T	c.(805-807)GAG>GAT	p.E269D	KCNH3_uc010smj.1_Missense_Mutation_p.E209D	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	269	Helical; Name=Segment S2; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						TGGCCGTGGAGGTCCTCTTCA	0.667												
FAM186B	84070	broad.mit.edu	37	12	49981443	49981443	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49981443C>T	uc001ruo.2	-	7	2800	c.2627G>A	c.(2626-2628)CGG>CAG	p.R876Q	FAM186B_uc010smk.1_Intron	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	876						protein complex				ovary(1)	1						CAGCTGGTCCCGGGGAAGGCT	0.577												
METTL7A	25840	broad.mit.edu	37	12	51323923	51323923	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:51323923C>T	uc001rxb.2	+	2	1013	c.725C>T	c.(724-726)GCT>GTT	p.A242V	METTL7A_uc010smv.1_3'UTR	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	methyltransferase like 7A precursor	242						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity				0						TATGGATATGCTGTGAAATAG	0.478												
TFCP2	7024	broad.mit.edu	37	12	51493509	51493509	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:51493509C>A	uc001rxw.2	-	12	1664	c.1205G>T	c.(1204-1206)AGG>ATG	p.R402M	TFCP2_uc001rxv.1_Missense_Mutation_p.R402M|TFCP2_uc009zlx.1_Missense_Mutation_p.R351M|TFCP2_uc001rxx.2_Missense_Mutation_p.R324M|TFCP2_uc009zly.1_Missense_Mutation_p.R304M	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	402	Gln-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ttgctgctCCCTCAACTGCAG	0.353												
GALNT6	11226	broad.mit.edu	37	12	51753071	51753071	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:51753071C>T	uc001ryk.2	-	7	1438	c.1213G>A	c.(1213-1215)GTA>ATA	p.V405I	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.V405I|GALNT6_uc001ryj.1_5'UTR	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	405	Catalytic subdomain B.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						ACATGGCCTACGACAGAGCAG	0.592												
ACVR1B	91	broad.mit.edu	37	12	52385715	52385715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:52385715C>T	uc001rzn.2	+	8	1372	c.1330C>T	c.(1330-1332)CGA>TGA	p.R444*	ACVR1B_uc001rzm.2_Nonsense_Mutation_p.R444*|ACVR1B_uc010snn.1_Nonsense_Mutation_p.R485*	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	444	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.R485*(1)		pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TGAGGAAATGCGAAAGGTTGT	0.488												
KRT85	3891	broad.mit.edu	37	12	52757866	52757866	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:52757866G>A	uc001sag.2	-	4	892	c.772C>T	c.(772-774)CGC>TGC	p.R258C		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	258	Rod.|Coil 1B.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCATAGAGGCGCCTCAGGAAG	0.612												
KRT74	121391	broad.mit.edu	37	12	52962154	52962154	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:52962154G>A	uc001sap.1	-	7	1202	c.1154C>T	c.(1153-1155)GCC>GTC	p.A385V		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	385	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		GTCAGCGATGGCCGTCTCCAG	0.562												
KRT73	319101	broad.mit.edu	37	12	53012077	53012077	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:53012077C>T	uc001sas.2	-	1	267	c.232G>A	c.(232-234)GCC>ACC	p.A78T		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	78	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		AAGCCACTGGCCCGGCCCCGG	0.632												
KRT78	196374	broad.mit.edu	37	12	53242666	53242666	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:53242666C>T	uc001sbc.1	-	1	113	c.49G>A	c.(49-51)GCC>ACC	p.A17T		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	keratin 5b	17	Head.|Gly-rich.					keratin filament	protein binding|structural molecule activity			ovary(2)	2						GCAGAACAGGCTGAGCGAGCG	0.632												
ESPL1	9700	broad.mit.edu	37	12	53677869	53677869	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:53677869C>T	uc001sck.2	+	17	3196	c.3105C>T	c.(3103-3105)GGC>GGT	p.G1035G	ESPL1_uc001scj.2_Silent_p.G710G|ESPL1_uc010soe.1_Silent_p.G246G	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1035					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						TGCTGAAGGGCGAGCTGGAGC	0.537												
C12orf10	60314	broad.mit.edu	37	12	53693543	53693543	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:53693543G>T	uc001scp.3	+	1	74	c.22G>T	c.(22-24)GGC>TGC	p.G8C	C12orf10_uc010sof.1_Missense_Mutation_p.G8C|C12orf10_uc009zmx.2_Missense_Mutation_p.G8C|C12orf10_uc001scq.3_5'Flank	NM_021640	NP_067653	Q86UA3	Q86UA3_HUMAN	MYG1 protein precursor	8										ovary(2)	2						ATTCCTGCGCGGCCTCTTAAC	0.667											OREG0021864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CALCOCO1	57658	broad.mit.edu	37	12	54115940	54115940	+	Missense_Mutation	SNP	G	G	A	rs35358749	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:54115940G>A	uc001sef.2	-	5	622	c.478C>T	c.(478-480)CGG>TGG	p.R160W	CALCOCO1_uc010som.1_Missense_Mutation_p.R127W|CALCOCO1_uc010son.1_Missense_Mutation_p.R37W|CALCOCO1_uc001seh.2_Missense_Mutation_p.R160W|CALCOCO1_uc009znd.2_Missense_Mutation_p.R160W|CALCOCO1_uc001seg.2_Missense_Mutation_p.R37W|CALCOCO1_uc010soo.1_Missense_Mutation_p.R153W	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	160	Potential.|N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						AGGTCATTCCGTTCTTGCTGG	0.587												
SMUG1	23583	broad.mit.edu	37	12	54576054	54576054	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:54576054A>G	uc001sff.1	-	4	768	c.639T>C	c.(637-639)GTT>GTC	p.V213V	SMUG1_uc001sfa.1_RNA|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Silent_p.V213V|SMUG1_uc009znf.1_Silent_p.V213V|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional	213					depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity				0						CCAGTCGCCCAACTCCCACCA	0.667								BER_DNA_glycosylases				
KIAA0748	9840	broad.mit.edu	37	12	55357525	55357525	+	Splice_Site	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:55357525C>A	uc001sgn.3	-	8	765	c.655_splice	c.e8+1	p.S219_splice	KIAA0748_uc001sgl.3_Splice_Site_p.S81_splice|KIAA0748_uc001sgm.3_Splice_Site|KIAA0748_uc010spb.1_Intron|KIAA0748_uc010spc.1_Splice_Site_p.S81_splice|KIAA0748_uc010spd.1_Splice_Site_p.S219_splice|KIAA0748_uc001sgo.3_Intron	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840											ovary(1)|central_nervous_system(1)	2						GGGACACTCACTGGCCAGCAT	0.522												
ORMDL2	29095	broad.mit.edu	37	12	56214083	56214083	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:56214083G>A	uc001shw.1	+	4	458	c.366G>A	c.(364-366)GCG>GCA	p.A122A	SARNP_uc009zoa.2_5'Flank|SARNP_uc001shs.3_5'Flank|SARNP_uc001sht.2_5'Flank|DNAJC14_uc001shu.1_Intron|SARNP_uc001shv.3_5'Flank	NM_014182	NP_054901	Q53FV1	ORML2_HUMAN	ORMDL2	122					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane					0						ATGATGCTGCGCACTTCCTCA	0.458												
SUOX	6821	broad.mit.edu	37	12	56398444	56398444	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:56398444C>T	uc001six.2	+	6	1597	c.1271C>T	c.(1270-1272)CCT>CTT	p.P424L	SUOX_uc001siy.2_Missense_Mutation_p.P424L|SUOX_uc001siz.2_Missense_Mutation_p.P424L|SUOX_uc001sja.2_Missense_Mutation_p.P424L	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	424	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CAGGAACTTCCTGTCCAGTCG	0.552												
ESYT1	23344	broad.mit.edu	37	12	56524639	56524639	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:56524639C>T	uc001sjq.2	+	3	547	c.497C>T	c.(496-498)GCT>GTT	p.A166V	ESYT1_uc001sjr.2_Missense_Mutation_p.A166V	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	166						integral to membrane				ovary(4)|skin(1)	5						GAAACTGTGGCTCCGGCTGTT	0.527												
STAT2	6773	broad.mit.edu	37	12	56749256	56749256	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:56749256G>A	uc001slc.2	-	5	520	c.442C>T	c.(442-444)CGG>TGG	p.R148W	STAT2_uc001sld.2_Missense_Mutation_p.R144W|STAT2_uc010sqn.1_Missense_Mutation_p.R144W	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	148					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						TCCAGGATCCGGGATTCAATC	0.498												
TMEM194A	23306	broad.mit.edu	37	12	57457008	57457008	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:57457008T>C	uc001smy.2	-	7	920	c.874A>G	c.(874-876)ATG>GTG	p.M292V	TMEM194A_uc001smx.2_Missense_Mutation_p.M219V|TMEM194A_uc010sra.1_Missense_Mutation_p.M33V	NM_001130963	NP_001124435	O14524	T194A_HUMAN	transmembrane protein 194A isoform a	292	Helical; (Potential).					integral to membrane					0						CCAGAATACATGAAACACAGG	0.448												
LRP1	4035	broad.mit.edu	37	12	57552351	57552351	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:57552351C>A	uc001snd.2	+	11	2194	c.1728C>A	c.(1726-1728)GCC>GCA	p.A576A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	576	LDL-receptor class B 4.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCTACTTTGCCGACACCACCA	0.592												
LRP1	4035	broad.mit.edu	37	12	57567581	57567581	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:57567581C>T	uc001snd.2	+	22	3831	c.3365C>T	c.(3364-3366)GCG>GTG	p.A1122V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1122	Extracellular (Potential).|LDL-receptor class A 9.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCAGCAAAGCGTGGGTGTGT	0.632												
LRP1	4035	broad.mit.edu	37	12	57601925	57601925	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:57601925G>T	uc001snd.2	+	77	12430	c.11964G>T	c.(11962-11964)AAG>AAT	p.K3988N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3988	LDL-receptor class B 32.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGCAGATGAAGGGCGAGAACC	0.647												
INHBC	3626	broad.mit.edu	37	12	57843578	57843578	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:57843578G>T	uc001snv.1	+	2	959	c.832G>T	c.(832-834)GGG>TGG	p.G278W		NM_005538	NP_005529	P55103	INHBC_HUMAN	inhibin beta C chain preproprotein	278					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding				0						CTTCTGCATAGGGCAGTGCCC	0.542												
KIF5A	3798	broad.mit.edu	37	12	57963420	57963420	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:57963420G>T	uc001sor.1	+	11	1279	c.1071G>T	c.(1069-1071)AAG>AAT	p.K357N	KIF5A_uc010srr.1_Missense_Mutation_p.K268N	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	357					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						aggcccagaaggagaCGATTG	0.403												
AGAP2	116986	broad.mit.edu	37	12	58124639	58124639	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:58124639C>T	uc001spq.2	-	11	2243	c.2243G>A	c.(2242-2244)GGC>GAC	p.G748D	AGAP2_uc001spp.2_Missense_Mutation_p.G748D|AGAP2_uc001spr.2_Missense_Mutation_p.G412D	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	748	PH.				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						GGCTGAGGGGCCAAAGGCAGA	0.572												
LRIG3	121227	broad.mit.edu	37	12	59266597	59266597	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:59266597A>G	uc001sqr.2	-	19	3363	c.3117T>C	c.(3115-3117)GGT>GGC	p.G1039G	LRIG3_uc009zqh.2_Silent_p.G979G|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	1039						integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			TTCCAAAGGTACCTGAAAGAA	0.423												
AVPR1A	552	broad.mit.edu	37	12	63544102	63544102	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:63544102G>A	uc001sro.1	-	1	2489	c.515C>T	c.(514-516)GCG>GTG	p.A172V		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	172	Helical; Name=4; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCAGGCGGCCGCGATCATGAG	0.642												
AVPR1A	552	broad.mit.edu	37	12	63544335	63544335	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:63544335G>A	uc001sro.1	-	1	2256	c.282C>T	c.(280-282)AGC>AGT	p.S94S		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	94	Helical; Name=2; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGTCGGCCAGGCTGAGGTGTC	0.667												
TBK1	29110	broad.mit.edu	37	12	64883863	64883863	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:64883863A>G	uc001ssc.1	+	13	1547	c.1485A>G	c.(1483-1485)TTA>TTG	p.L495L		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	495					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1)	5				GBM - Glioblastoma multiforme(28;0.0386)		CGGCAGAGTTAGGTGAAATTT	0.313												
MSRB3	253827	broad.mit.edu	37	12	65672589	65672589	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:65672589G>A	uc001ssn.2	+	1	102	c.41G>A	c.(40-42)TGC>TAC	p.C14Y	MSRB3_uc001ssm.2_5'UTR|MSRB3_uc009zqp.2_5'UTR	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3 isoform 1	14					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		ctctcgctctgcctctccctc	0.483												
GRIP1	23426	broad.mit.edu	37	12	66838456	66838456	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:66838456G>A	uc001stk.2	-	12	1680	c.1439C>T	c.(1438-1440)ACA>ATA	p.T480I	GRIP1_uc010sta.1_Missense_Mutation_p.T424I|GRIP1_uc001stj.2_Missense_Mutation_p.T262I|GRIP1_uc001stl.1_Missense_Mutation_p.T372I|GRIP1_uc001stm.2_Missense_Mutation_p.T480I	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	532	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCTGTCTTCTGTTGGAATTCC	0.443												
GRIP1	23426	broad.mit.edu	37	12	66838474	66838474	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:66838474G>T	uc001stk.2	-	12	1662	c.1421C>A	c.(1420-1422)GCC>GAC	p.A474D	GRIP1_uc010sta.1_Missense_Mutation_p.A418D|GRIP1_uc001stj.2_Missense_Mutation_p.A256D|GRIP1_uc001stl.1_Missense_Mutation_p.A366D|GRIP1_uc001stm.2_Missense_Mutation_p.A474D	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	526	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCATTGATGGCCATCACTCT	0.458												
SLC35E3	55508	broad.mit.edu	37	12	69158493	69158493	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:69158493G>C	uc001suh.2	+	5	987	c.765G>C	c.(763-765)ATG>ATC	p.M255I		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E2	255	Helical; (Potential).					integral to membrane					0	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GCTATAACATGTTCGGACACT	0.348												
ZFC3H1	196441	broad.mit.edu	37	12	72008708	72008708	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:72008708G>A	uc001swo.2	-	29	5625	c.5266C>T	c.(5266-5268)CCT>TCT	p.P1756S		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1756	TPR 5.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						GATTGAAGAGGATGACAAAGG	0.348												
ZFC3H1	196441	broad.mit.edu	37	12	72026030	72026030	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:72026030C>A	uc001swo.2	-	15	3441	c.3082G>T	c.(3082-3084)GAA>TAA	p.E1028*		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1028					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						ACATCATTTTCTTCAGTGTCC	0.363												
KCNC2	3747	broad.mit.edu	37	12	75444611	75444611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:75444611C>A	uc001sxg.1	-	3	1718	c.1174G>T	c.(1174-1176)GGA>TGA	p.G392*	KCNC2_uc009zry.2_Nonsense_Mutation_p.G392*|KCNC2_uc001sxe.2_Nonsense_Mutation_p.G392*|KCNC2_uc001sxf.2_Nonsense_Mutation_p.G392*|KCNC2_uc010stw.1_Nonsense_Mutation_p.G392*	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	392	Helical; Name=Segment S5; (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						ATCAAAACTCCTAGAGCCAGG	0.443												
KCNC2	3747	broad.mit.edu	37	12	75601144	75601144	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:75601144C>T	uc001sxg.1	-	2	1164	c.620G>A	c.(619-621)CGC>CAC	p.R207H	KCNC2_uc009zry.2_Missense_Mutation_p.R207H|KCNC2_uc001sxe.2_Missense_Mutation_p.R207H|KCNC2_uc001sxf.2_Missense_Mutation_p.R207H|KCNC2_uc010stw.1_Missense_Mutation_p.R207H	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	207	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R207C(1)		breast(2)|pancreas(2)|skin(1)|lung(1)	6						CCTCCTCCAGCGGCCAGATTT	0.701												
KCNC2	3747	broad.mit.edu	37	12	75601437	75601437	+	Silent	SNP	G	G	A	rs145691120	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:75601437G>A	uc001sxg.1	-	2	871	c.327C>T	c.(325-327)GGC>GGT	p.G109G	KCNC2_uc009zry.2_Silent_p.G109G|KCNC2_uc001sxe.2_Silent_p.G109G|KCNC2_uc001sxf.2_Silent_p.G109G|KCNC2_uc010stw.1_Silent_p.G109G	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	109	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						AGGCGAAGACGCCCGGGTGCC	0.697												
LIN7A	8825	broad.mit.edu	37	12	81331457	81331457	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:81331457C>T	uc001szj.1	-	1	238	c.45G>A	c.(43-45)GCG>GCA	p.A15A	LIN7A_uc001szk.1_RNA|MIR618_hsa-mir-618|MI0003632_5'Flank	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	15	Kinase interacting site.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						CTGTCAATGTCGCCATGTCTG	0.542												
C12orf29	91298	broad.mit.edu	37	12	88439400	88439400	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:88439400C>T	uc001tao.2	+	5	621	c.463C>T	c.(463-465)CAT>TAT	p.H155Y	C12orf29_uc001tap.2_RNA|C12orf29_uc009zsk.2_Intron	NM_001009894	NP_001009894	Q8N999	CL029_HUMAN	hypothetical protein LOC91298	155											0						GTATTGCTGGCATTCCTCTGT	0.343												
C12orf12	196477	broad.mit.edu	37	12	91347424	91347424	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:91347424A>C	uc001tbj.2	-	1	1530	c.1096T>G	c.(1096-1098)TCA>GCA	p.S366A		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	366	Glu-rich.									central_nervous_system(1)|pancreas(1)	2						ACGAAGATTGATAAAGGCATT	0.348												
C12orf12	196477	broad.mit.edu	37	12	91348307	91348307	+	Silent	SNP	G	G	A	rs151076167		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:91348307G>A	uc001tbj.2	-	1	647	c.213C>T	c.(211-213)CAC>CAT	p.H71H		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	hypothetical protein LOC196477	71										central_nervous_system(1)|pancreas(1)	2						AGCCCGGGCCGTGCTGTTGCT	0.647												
DCN	1634	broad.mit.edu	37	12	91550888	91550888	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:91550888G>A	uc001tbs.2	-	4	710	c.616C>T	c.(616-618)CGC>TGC	p.R206C	DCN_uc001tbo.2_Missense_Mutation_p.R97C|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.R206C|DCN_uc001tbu.2_Missense_Mutation_p.R206C	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	206	LRR 6.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						TCAGCAATGCGGATGTAGGAG	0.378												
DCN	1634	broad.mit.edu	37	12	91552181	91552181	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:91552181A>T	uc001tbs.2	-	3	524	c.430T>A	c.(430-432)TTG>ATG	p.L144M	DCN_uc001tbo.2_Intron|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.L144M|DCN_uc001tbu.2_Missense_Mutation_p.L144M	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	144	LRR 4.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						TTTTCTGGCAATTCCTTCAGC	0.408												
HAL	3034	broad.mit.edu	37	12	96380913	96380913	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:96380913C>T	uc001tem.1	-	12	1280	c.983G>A	c.(982-984)CGG>CAG	p.R328Q	HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.R120Q|HAL_uc010sux.1_Missense_Mutation_p.R328Q	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	328					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	GTCAGCCTGCCGTGCAATAGC	0.562												
ELK3	2004	broad.mit.edu	37	12	96640867	96640867	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:96640867C>T	uc001teo.1	+	3	636	c.357C>T	c.(355-357)CGC>CGT	p.R119R		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	119					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			ovary(1)	1	all_cancers(2;0.00173)					CGGAGGGCCGCGAGGCCCACA	0.612												
ELK3	2004	broad.mit.edu	37	12	96640914	96640914	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:96640914A>C	uc001teo.1	+	3	683	c.404A>C	c.(403-405)AAC>ACC	p.N135T		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	135					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			ovary(1)	1	all_cancers(2;0.00173)					ACGAGCCGCAACGAATACATC	0.617												
CDK17	5128	broad.mit.edu	37	12	96679898	96679898	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:96679898A>G	uc001tep.1	-	13	1734	c.1245T>C	c.(1243-1245)GGT>GGC	p.G415G	CDK17_uc009ztk.2_Silent_p.G415G|CDK17_uc010svb.1_Silent_p.G362G	NM_002595	NP_002586	Q00537	CDK17_HUMAN	PCTAIRE protein kinase 2	415	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						TTGAAGAAATACCTGGCCAAG	0.249												
C12orf63	374467	broad.mit.edu	37	12	97078887	97078887	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:97078887G>A	uc001tet.1	+	9	1238	c.1160G>A	c.(1159-1161)GGC>GAC	p.G387D		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	387										skin(6)|ovary(1)	7						AAAGAATTTGGCCCCTCACTC	0.458												
NEDD1	121441	broad.mit.edu	37	12	97337417	97337417	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:97337417T>C	uc001teu.3	+	12	1713	c.1374T>C	c.(1372-1374)CAT>CAC	p.H458H	NEDD1_uc001tev.3_Silent_p.H458H|NEDD1_uc010svc.1_Silent_p.H369H|NEDD1_uc001tew.2_Silent_p.H465H|NEDD1_uc001tex.2_Silent_p.H369H	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally	458					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol					0						CAGTATTGCATTCTAGTCCTC	0.383												
ANKS1B	56899	broad.mit.edu	37	12	100200245	100200245	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:100200245C>T	uc001tge.1	-	4	1023	c.606G>A	c.(604-606)GCG>GCA	p.A202A	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Silent_p.A202A	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	202	ANK 6.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGCCATTGCGCGCAGCAAGGT	0.493												
SLC17A8	246213	broad.mit.edu	37	12	100790120	100790120	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:100790120C>A	uc010svi.1	+	5	914	c.601C>A	c.(601-603)CCA>ACA	p.P201T	SLC17A8_uc009ztx.2_Missense_Mutation_p.P201T	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	201	Helical; (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3						TGTGACCTACCCAGCCTGCCA	0.453												
DRAM1	55332	broad.mit.edu	37	12	102295099	102295099	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:102295099T>C	uc001tix.2	+	3	693	c.230T>C	c.(229-231)ATA>ACA	p.I77T	DRAM1_uc010svv.1_Missense_Mutation_p.I77T	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	77					apoptosis|autophagy	integral to membrane|lysosomal membrane				ovary(1)	1						AGATACAAAATAGTACAGAAG	0.383												
C12orf48	55010	broad.mit.edu	37	12	102559514	102559514	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:102559514C>T	uc001tjf.2	+	6	786	c.674C>T	c.(673-675)ACG>ATG	p.T225M	C12orf48_uc001tjg.2_Missense_Mutation_p.T144M|C12orf48_uc010swa.1_Missense_Mutation_p.T302M|C12orf48_uc001tjh.2_Missense_Mutation_p.T144M|C12orf48_uc010swb.1_Missense_Mutation_p.T111M|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Translation_Start_Site|C12orf48_uc001tjk.2_Missense_Mutation_p.T225M|C12orf48_uc009zud.2_Missense_Mutation_p.T225M	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	225					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0						TAGGTGGCCACGTCTTTTATT	0.328												
TDG	6996	broad.mit.edu	37	12	104376689	104376689	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:104376689G>A	uc001tkg.2	+	5	814	c.591G>A	c.(589-591)ACG>ACA	p.T197T	TDG_uc009zuk.2_Silent_p.T193T|TDG_uc010swi.1_Silent_p.T54T|TDG_uc010swj.1_Missense_Mutation_p.R13H	NM_003211	NP_003202	Q13569	TDG_HUMAN	thymine-DNA glycosylase	197					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			ovary(3)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAGGACCACGCCCGGCAGCA	0.463								BER_DNA_glycosylases				
POLR3B	55703	broad.mit.edu	37	12	106857280	106857280	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:106857280T>C	uc001tlp.2	+	23	2817	c.2595T>C	c.(2593-2595)TAT>TAC	p.Y865Y	POLR3B_uc001tlq.2_Silent_p.Y807Y	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	865					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						CAGACTCATATATTGAAAAAG	0.378												
BTBD11	121551	broad.mit.edu	37	12	107712894	107712894	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:107712894G>A	uc001tmk.1	+	1	698	c.177G>A	c.(175-177)ATG>ATA	p.M59I	BTBD11_uc009zut.1_Missense_Mutation_p.M59I|BTBD11_uc001tmj.2_Missense_Mutation_p.M59I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	59						integral to membrane	DNA binding			skin(2)|ovary(1)	3						CTGACTCCATGCACAGCCGGC	0.662												
PWP1	11137	broad.mit.edu	37	12	108105908	108105908	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:108105908C>T	uc001tmo.1	+	15	1504	c.1417C>T	c.(1417-1419)CGA>TGA	p.R473*	PWP1_uc009zuu.1_3'UTR	NM_007062	NP_008993	Q13610	PWP1_HUMAN	periodic tryptophan protein 1	473					transcription, DNA-dependent	nucleus					0						ATTTGGAAGACGAGAGAGGCT	0.368												
SELPLG	6404	broad.mit.edu	37	12	109017765	109017765	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:109017765C>T	uc001tni.2	-	2	479	c.319G>A	c.(319-321)GCC>ACC	p.A107T	SELPLG_uc001tnh.2_Missense_Mutation_p.A107T|SELPLG_uc010sxe.1_Missense_Mutation_p.A123T	NM_003006	NP_002997	Q14242	SELPL_HUMAN	selectin P ligand	107	Extracellular (Potential).				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding				0						CCCATGTTGGCCAGCTCCGTG	0.607												
CORO1C	23603	broad.mit.edu	37	12	109095026	109095026	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:109095026G>A	uc001tnj.2	-	2	165	c.69C>T	c.(67-69)TGC>TGT	p.C23C	CORO1C_uc009zva.2_Silent_p.C76C|CORO1C_uc010sxf.1_Silent_p.C23C	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C isoform 1	23					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			skin(3)	3						TGTCATCATAGCACTGGTCAT	0.478												
SSH1	54434	broad.mit.edu	37	12	109181948	109181948	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:109181948G>A	uc001tnm.2	-	15	3053	c.2966C>T	c.(2965-2967)ACG>ATG	p.T989M	SSH1_uc001tnl.2_Missense_Mutation_p.T677M	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	989	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						CAGGTCTTCCGTTGAGAAGGT	0.612												
ACACB	32	broad.mit.edu	37	12	109675153	109675153	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:109675153G>A	uc001tob.2	+	34	4749	c.4630G>A	c.(4630-4632)GCC>ACC	p.A1544T	ACACB_uc001toc.2_Missense_Mutation_p.A1544T|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.A210T	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1544					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CTTCATCCGCGCCATCATCAG	0.517												
C12orf34	84915	broad.mit.edu	37	12	110206381	110206381	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:110206381C>T	uc001tpd.1	+	3	1206	c.647C>T	c.(646-648)GCA>GTA	p.A216V	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.A216V	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	216	Pro-rich.									ovary(1)	1						CCGGGCGCCGCACCCCCTGCC	0.716												
CUX2	23316	broad.mit.edu	37	12	111748391	111748391	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:111748391C>T	uc001tsa.1	+	15	1958	c.1805C>T	c.(1804-1806)ACG>ATG	p.T602M		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	602	CUT 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CGCAAGCTCACGGTGAAGGGC	0.617												
BRAP	8315	broad.mit.edu	37	12	112110576	112110576	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:112110576A>G	uc001tsn.3	-	5	830	c.636T>C	c.(634-636)GCT>GCC	p.A212A	BRAP_uc010syh.1_Intron|BRAP_uc009zvv.2_Silent_p.A182A	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	212					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						TATCCGCATCAGCCTATGTAC	0.393												
BRAP	8315	broad.mit.edu	37	12	112119464	112119464	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:112119464A>G	uc001tsn.3	-	3	614	c.420T>C	c.(418-420)GGT>GGC	p.G140G	BRAP_uc010syh.1_5'UTR|BRAP_uc009zvv.2_Silent_p.G110G	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	140					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						GGTGCATAATACCATGAACTA	0.368												
ACAD10	80724	broad.mit.edu	37	12	112184870	112184870	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:112184870G>A	uc001tsq.2	+	15	2474	c.2274G>A	c.(2272-2274)GCG>GCA	p.A758A	ACAD10_uc001tsp.2_Silent_p.A758A|ACAD10_uc009zvx.2_Silent_p.A789A|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	758							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						ACTGCTCTGCGCCTGACACGG	0.463												
DTX1	1840	broad.mit.edu	37	12	113515249	113515249	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:113515249C>T	uc001tuk.1	+	2	616	c.280C>T	c.(280-282)CGC>TGC	p.R94C		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	94	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						GCCCGTGCGGCGCAACTTCTA	0.672												
DTX1	1840	broad.mit.edu	37	12	113515369	113515369	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:113515369G>A	uc001tuk.1	+	2	736	c.400G>A	c.(400-402)GAG>AAG	p.E134K		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	134	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						GAACGCCTACGAGAAGCAGCA	0.562												
KSR2	283455	broad.mit.edu	37	12	117962864	117962864	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:117962864A>G	uc001two.2	-	14	1980	c.1925T>C	c.(1924-1926)CTC>CCC	p.L642P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	671	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTTCCAATGAGCTCGCCGAT	0.622												
SRRM4	84530	broad.mit.edu	37	12	119588945	119588945	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:119588945C>A	uc001txa.1	+	10	1492	c.1200C>A	c.(1198-1200)TCC>TCA	p.S400S		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	400	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						GCACCCGATCCTCCAGTCACT	0.562												
SRRM4	84530	broad.mit.edu	37	12	119594401	119594401	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:119594401C>G	uc001txa.1	+	13	1926	c.1634C>G	c.(1633-1635)GCC>GGC	p.A545G		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	545	Ser-rich.|Arg-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						AGCCGCTCGGCCAGCCGCAGC	0.552												
CIT	11113	broad.mit.edu	37	12	120241186	120241186	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:120241186G>T	uc001txi.1	-	10	1172	c.1119C>A	c.(1117-1119)CCC>CCA	p.P373P	CIT_uc001txh.1_5'UTR|CIT_uc001txj.1_Silent_p.P373P	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	373	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAACGAAGGGGGGAGGAGCTG	0.502												
GCN1L1	10985	broad.mit.edu	37	12	120568996	120568996	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:120568996G>A	uc001txo.2	-	55	7569	c.7556C>T	c.(7555-7557)GCG>GTG	p.A2519V		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2519					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACCCTGTCCGCCGTGGCACT	0.522												
GCN1L1	10985	broad.mit.edu	37	12	120582845	120582845	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:120582845C>A	uc001txo.2	-	40	5050	c.5037G>T	c.(5035-5037)AAG>AAT	p.K1679N		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1679	HEAT 12.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCCAAGGGCCTTTGCAGATA	0.572												
KDM2B	84678	broad.mit.edu	37	12	121890960	121890960	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:121890960C>T	uc001uat.2	-	13	2026	c.1922G>A	c.(1921-1923)CGC>CAC	p.R641H	KDM2B_uc001uaq.2_Missense_Mutation_p.R81H|KDM2B_uc010szy.1_Missense_Mutation_p.R81H|KDM2B_uc001uar.2_Missense_Mutation_p.R232H|KDM2B_uc001uas.2_Missense_Mutation_p.R610H|KDM2B_uc001uau.2_Missense_Mutation_p.R524H	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	641	CXXC-type.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						CTGCTTCATGCGCCCGGGGCC	0.706												
TMEM120B	144404	broad.mit.edu	37	12	122181540	122181540	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:122181540G>A	uc001ubc.3	+	2	219	c.75G>A	c.(73-75)ACG>ACA	p.T25T	TMEM120B_uc009zxh.2_Silent_p.T25T	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	transmembrane protein 120B	25	Potential.					integral to membrane					0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TTCAGGAGACGCACAGGATCT	0.438												
KNTC1	9735	broad.mit.edu	37	12	123067402	123067402	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:123067402A>G	uc001ucv.2	+	34	3296	c.3133A>G	c.(3133-3135)AGC>GGC	p.S1045G	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1045					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGAGGTGAGGAGCCCAAGCAT	0.547												
RILPL1	353116	broad.mit.edu	37	12	123970350	123970350	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:123970350C>T	uc001ufe.2	-	5	1040	c.804G>A	c.(802-804)ACG>ACA	p.T268T	RILPL1_uc001ufd.2_Silent_p.T117T|RILPL1_uc010tas.1_Silent_p.T268T	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	268					neuroprotection	cytosol					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CCACCGGCTCCGTCTGGAGGA	0.627												
CCDC92	80212	broad.mit.edu	37	12	124421644	124421644	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:124421644C>A	uc001ufw.1	-	5	1104	c.957G>T	c.(955-957)AAG>AAT	p.K319N	CCDC92_uc001ufv.1_Missense_Mutation_p.K302N|CCDC92_uc001ufx.1_Missense_Mutation_p.K319N|CCDC92_uc001ufy.1_Missense_Mutation_p.K302N	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	319											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)		TCCTCACCACCTTGCCTCCGT	0.672												
NCOR2	9612	broad.mit.edu	37	12	124824929	124824929	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:124824929C>T	uc010tba.1	-	36	5540	c.5423G>A	c.(5422-5424)CGG>CAG	p.R1808Q	NCOR2_uc010tay.1_Missense_Mutation_p.R1807Q|NCOR2_uc010taz.1_Missense_Mutation_p.R1791Q|NCOR2_uc010tbb.1_Missense_Mutation_p.R1800Q|NCOR2_uc010tbc.1_Missense_Mutation_p.R1790Q|NCOR2_uc010tax.1_5'Flank	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1808					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)		CTCTCGATCCCGGTCTCGCTC	0.627												
NCOR2	9612	broad.mit.edu	37	12	124826546	124826546	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:124826546G>A	uc010tba.1	-	34	5152	c.5035C>T	c.(5035-5037)CGC>TGC	p.R1679C	NCOR2_uc010tay.1_Missense_Mutation_p.R1678C|NCOR2_uc010taz.1_Missense_Mutation_p.R1662C|NCOR2_uc010tbb.1_Missense_Mutation_p.R1671C|NCOR2_uc010tbc.1_Missense_Mutation_p.R1661C|NCOR2_uc010tax.1_5'Flank	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1679					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)		GGGTAGCCGCGGATGAGGTAG	0.667												
DHX37	57647	broad.mit.edu	37	12	125460030	125460030	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:125460030C>T	uc001ugy.2	-	6	1014	c.915G>A	c.(913-915)GAG>GAA	p.E305E		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	305	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CTCGGCGGGGCTCCGTGACAC	0.627												
TMEM132B	114795	broad.mit.edu	37	12	125900199	125900199	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:125900199G>A	uc001uhe.1	+	3	1075	c.1067G>A	c.(1066-1068)GGC>GAC	p.G356D		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	356	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCTGCATGGGCCATCGCCCG	0.577												
RIMBP2	23504	broad.mit.edu	37	12	130892273	130892273	+	Missense_Mutation	SNP	C	C	T	rs148542555	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:130892273C>T	uc001uil.2	-	16	3087	c.2923G>A	c.(2923-2925)GAG>AAG	p.E975K		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	975	SH3 3.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCTGGTACCTCGACATCGACG	0.567												
ULK1	8408	broad.mit.edu	37	12	132399917	132399917	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:132399917G>A	uc001uje.2	+	18	1828	c.1560G>A	c.(1558-1560)ACG>ACA	p.T520T		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	520					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GGAGCGGGACGCCCTCCCCAC	0.672												
NOC4L	79050	broad.mit.edu	37	12	132635801	132635801	+	Splice_Site	SNP	A	A	G	rs112537581		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:132635801A>G	uc001ujz.1	+	11	1004	c.963_splice	c.e11-2	p.L321_splice		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog						rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCCGGCCCGCAGGGAGTACCC	0.662												
POLE	5426	broad.mit.edu	37	12	133210851	133210851	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:133210851T>C	uc001uks.1	-	43	5969	c.5925A>G	c.(5923-5925)TTA>TTG	p.L1975L	POLE_uc001ukq.1_Silent_p.L185L|POLE_uc001ukr.1_Silent_p.L779L|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1975					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)		TGTTTTCCAGTAAATCCTCCA	0.333								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
POLE	5426	broad.mit.edu	37	12	133214684	133214684	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:133214684T>C	uc001uks.1	-	41	5638	c.5594A>G	c.(5593-5595)TAC>TGC	p.Y1865C	POLE_uc001ukq.1_Missense_Mutation_p.Y75C|POLE_uc001ukr.1_Missense_Mutation_p.Y669C|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1865					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)		GAAGTTGGCGTAGATGACTGA	0.577								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IL17D	53342	broad.mit.edu	37	13	21295977	21295977	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:21295977G>A	uc001unm.2	+	3	601	c.493G>A	c.(493-495)GTG>ATG	p.V165M		NM_138284	NP_612141	Q8TAD2	IL17D_HUMAN	interleukin 17D precursor	165					inflammatory response	extracellular space	cytokine activity				0		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		CACCATCCCCGTGGGCTGCAC	0.701												
XPO4	64328	broad.mit.edu	37	13	21417087	21417087	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:21417087C>T	uc001unq.3	-	6	710	c.674G>A	c.(673-675)CGT>CAT	p.R225H	XPO4_uc010tcr.1_Missense_Mutation_p.R151H	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	225					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGCAAGGTAACGCTGAAATAC	0.403												
SACS	26278	broad.mit.edu	37	13	23911721	23911721	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:23911721A>C	uc001uon.2	-	10	6883	c.6294T>G	c.(6292-6294)ATT>ATG	p.I2098M	SACS_uc001uoo.2_Missense_Mutation_p.I1951M|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2098					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGAACAAGGAATACATGGAG	0.393												
TNFRSF19	55504	broad.mit.edu	37	13	24243247	24243247	+	Missense_Mutation	SNP	G	G	A	rs145685720	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:24243247G>A	uc001uov.1	+	9	1320	c.1256G>A	c.(1255-1257)CGA>CAA	p.R419Q	TNFRSF19_uc001uot.2_Intron|TNFRSF19_uc010tcu.1_Intron|TNFRSF19_uc001uow.2_Intron	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily,	419	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			kidney(1)|skin(1)	2		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTAAGGCAGCGACTGGGTTCC	0.493												
CENPJ	55835	broad.mit.edu	37	13	25484017	25484017	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:25484017G>A	uc001upt.3	-	4	1029	c.776C>T	c.(775-777)GCG>GTG	p.A259V	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	259					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)		ATTAGGAGACGCACGTTTTGA	0.393												
FAM123A	219287	broad.mit.edu	37	13	25745387	25745387	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:25745387C>T	uc001uqb.2	-	1	471	c.371G>A	c.(370-372)CGC>CAC	p.R124H	FAM123A_uc001uqa.2_Missense_Mutation_p.R124H|FAM123A_uc001uqc.2_Missense_Mutation_p.R124H	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	124	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		gcccccgccgcGCGGCTCCTC	0.597												
RNF6	6049	broad.mit.edu	37	13	26788943	26788943	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:26788943C>T	uc001uqo.2	-	5	1367	c.1076G>A	c.(1075-1077)CGC>CAC	p.R359H	RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.R359H|RNF6_uc001uqp.2_Missense_Mutation_p.R359H|RNF6_uc001uqq.2_Missense_Mutation_p.R359H|RNF6_uc010tdk.1_Intron	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	359	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		AGTACCTCTGCGTTCTCGTTC	0.438												
USP12	219333	broad.mit.edu	37	13	27679880	27679880	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:27679880G>A	uc001uqy.2	-	3	584	c.331C>T	c.(331-333)CGG>TGG	p.R111W		NM_182488	NP_872294	O75317	UBP12_HUMAN	ubiquitin thiolesterase 12	111					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TTTTCTTTCCGTAATCTTGTG	0.343												
RXFP2	122042	broad.mit.edu	37	13	32355837	32355837	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:32355837T>G	uc001utt.2	+	10	886	c.815T>G	c.(814-816)CTC>CGC	p.L272R	RXFP2_uc010aba.2_Missense_Mutation_p.L255R	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	272	Extracellular (Potential).|LRR 6.					integral to membrane|plasma membrane					0		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATAAAGTATCTCACAAATTCT	0.333												
BRCA2	675	broad.mit.edu	37	13	32906995	32906995	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:32906995T>C	uc001uub.1	+	10	1607	c.1380T>C	c.(1378-1380)AAT>AAC	p.N460N	BRCA2_uc001uua.1_Silent_p.N337N	NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	460					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGCCATTAAATGAGGAAACAG	0.378			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)		
PDS5B	23047	broad.mit.edu	37	13	33306344	33306344	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:33306344T>C	uc010abf.2	+	20	2388	c.2230T>C	c.(2230-2232)TTT>CTT	p.F744L	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	744					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGAGACCCAGTTTGCACAGAT	0.323												
STARD13	90627	broad.mit.edu	37	13	33704265	33704265	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:33704265A>G	uc001uuw.2	-	5	675	c.549T>C	c.(547-549)AGT>AGC	p.S183S	STARD13_uc001uuu.2_Silent_p.S175S|STARD13_uc001uuv.2_Silent_p.S65S|STARD13_uc001uux.2_Silent_p.S148S|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.S168S	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	183					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGACGCTCTCACTGCTGGTCG	0.627												
NBEA	26960	broad.mit.edu	37	13	35756615	35756615	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:35756615G>T	uc001uvb.2	+	29	4987	c.4781G>T	c.(4780-4782)AGC>ATC	p.S1594I	NBEA_uc010abi.2_Missense_Mutation_p.S282I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1594						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGAACTGGAAGCCAACCAGGT	0.378												
NBEA	26960	broad.mit.edu	37	13	35782966	35782966	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:35782966A>G	uc001uvb.2	+	32	5702	c.5496A>G	c.(5494-5496)ACA>ACG	p.T1832T	NBEA_uc010abi.2_Silent_p.T488T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1832						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTGGAGCTACACCAAAAAGTA	0.378												
MAB21L1	4081	broad.mit.edu	37	13	36049681	36049681	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:36049681G>A	uc001uvc.2	-	1	1152	c.595C>T	c.(595-597)CGG>TGG	p.R199W	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	199					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TCCGCCACCCGGTTGGGTCCC	0.647												
MAB21L1	4081	broad.mit.edu	37	13	36050268	36050268	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:36050268G>A	uc001uvc.2	-	1	565	c.8C>T	c.(7-9)GCG>GTG	p.A3V	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	3					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GGCCTGGGCCGCAATCATGTT	0.522												
DCLK1	9201	broad.mit.edu	37	13	36700138	36700138	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:36700138G>A	uc001uvf.2	-	2	370	c.137C>T	c.(136-138)ACG>ATG	p.T46M		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	46			T -> M (in a gastric adenocarcinoma sample; somatic mutation).		cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.T46M(1)		stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CGTCTGCAGCGTGCGGGTGCG	0.597												
FAM48A	55578	broad.mit.edu	37	13	37605751	37605751	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:37605751T>C	uc001uwg.2	-	12	1122	c.874A>G	c.(874-876)ATG>GTG	p.M292V	FAM48A_uc010abt.2_Missense_Mutation_p.M293V|FAM48A_uc001uwh.2_Missense_Mutation_p.M293V|FAM48A_uc001uwi.2_Missense_Mutation_p.M292V|FAM48A_uc001uwj.2_Missense_Mutation_p.M293V|FAM48A_uc001uwk.2_Missense_Mutation_p.M292V|FAM48A_uc010tes.1_Missense_Mutation_p.M280V|FAM48A_uc001uwl.1_Missense_Mutation_p.M292V	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	292					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		CGTTTCCACATATCTACACAC	0.289												
CSNK1A1L	122011	broad.mit.edu	37	13	37679211	37679211	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:37679211G>T	uc001uwm.1	-	1	591	c.183C>A	c.(181-183)AGC>AGA	p.S61R		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	61	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TGTAGAGTTTGCTCTCATACA	0.517												
FREM2	341640	broad.mit.edu	37	13	39262270	39262270	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:39262270C>T	uc001uwv.2	+	1	1098	c.789C>T	c.(787-789)GGC>GGT	p.G263G		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	263	Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGAACTAGGCGTGCGCTATC	0.632												
COG6	57511	broad.mit.edu	37	13	40268775	40268775	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:40268775G>A	uc001uxh.2	+	12	1179	c.1079G>A	c.(1078-1080)CGA>CAA	p.R360Q	COG6_uc001uxi.2_Missense_Mutation_p.R308Q|COG6_uc010acb.2_Missense_Mutation_p.R360Q	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	360					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TAATAGGTTCGAATTGAGCAA	0.274												
KBTBD6	89890	broad.mit.edu	37	13	41704639	41704639	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:41704639C>T	uc001uxu.1	-	1	2298	c.2009G>A	c.(2008-2010)CGT>CAT	p.R670H	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.R604H|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	670	Kelch 6.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGGCGCTACACGCACCCAAAA	0.408												
DGKH	160851	broad.mit.edu	37	13	42830439	42830439	+	RNA	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:42830439C>T	uc001uyp.2	+	32		c.4219C>T						Q86XP1	DGKH_HUMAN	Homo sapiens DGKH-1 mRNA for diacylglycerol kinase eta1, complete cds.						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CAGAAAACTGCGTGGTGGGAA	0.433												
ZC3H13	23091	broad.mit.edu	37	13	46541687	46541687	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:46541687G>A	uc010tfw.1	-	14	4279	c.4273C>T	c.(4273-4275)CAG>TAG	p.Q1425*	ZC3H13_uc001vaq.2_Nonsense_Mutation_p.Q9*|ZC3H13_uc001vas.1_Nonsense_Mutation_p.Q1425*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1425							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)		TCAAATCCCTGCACAGATCCC	0.418												
ZC3H13	23091	broad.mit.edu	37	13	46541741	46541741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:46541741G>A	uc010tfw.1	-	14	4225	c.4219C>T	c.(4219-4221)CGA>TGA	p.R1407*	ZC3H13_uc001vaq.2_5'UTR|ZC3H13_uc001vas.1_Nonsense_Mutation_p.R1407*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1407							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)		AGAGAGTCTCGGGAAGTGCTT	0.393												
ZC3H13	23091	broad.mit.edu	37	13	46543882	46543882	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:46543882G>A	uc010tfw.1	-	13	2803	c.2797C>T	c.(2797-2799)CGT>TGT	p.R933C	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R933C|ZC3H13_uc001vat.1_Missense_Mutation_p.R933C	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	933							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)		TCCTGTGCACGCATTCTTGAG	0.418												
ZC3H13	23091	broad.mit.edu	37	13	46544544	46544544	+	Missense_Mutation	SNP	C	C	T	rs144621814		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:46544544C>T	uc010tfw.1	-	12	2531	c.2525G>A	c.(2524-2526)CGT>CAT	p.R842H	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R842H|ZC3H13_uc001vat.1_Missense_Mutation_p.R842H	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	842	Arg/Glu-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)		AGAATGTTCACGCCGGCGCTT	0.438												
ZC3H13	23091	broad.mit.edu	37	13	46549584	46549584	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:46549584G>C	uc010tfw.1	-	11	2308	c.2302C>G	c.(2302-2304)CGA>GGA	p.R768G	ZC3H13_uc001vas.1_Missense_Mutation_p.R768G|ZC3H13_uc001vat.1_Missense_Mutation_p.R768G	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	768	Arg/Glu-rich.|Potential.						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)		tctcgctctcgctctctctcc	0.149												
ZC3H13	23091	broad.mit.edu	37	13	46585643	46585643	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:46585643T>C	uc010tfw.1	-	5	501	c.495A>G	c.(493-495)TCA>TCG	p.S165S	ZC3H13_uc001vas.1_Silent_p.S165S|ZC3H13_uc001vat.1_Silent_p.S165S	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	165							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)		TCATTTCCAATGACAATTCAT	0.303												
RB1	5925	broad.mit.edu	37	13	48954327	48954327	+	Missense_Mutation	SNP	A	A	G	rs5803433		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:48954327A>G	uc001vcb.2	+	16	1614	c.1448A>G	c.(1447-1449)CAT>CGT	p.H483R		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	483	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)|p.H483fs*9(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AACATTTTTCATATGTCTTTA	0.204		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
FNDC3A	22862	broad.mit.edu	37	13	49762768	49762768	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:49762768C>T	uc001vcm.2	+	17	2248	c.1943C>T	c.(1942-1944)GCG>GTG	p.A648V	FNDC3A_uc001vcn.2_Missense_Mutation_p.A648V|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.A574V|FNDC3A_uc001vcq.2_Missense_Mutation_p.A592V	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	648	Fibronectin type-III 4.					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)		GGACAGAGTGCGGTAATACTT	0.403												
RCBTB1	55213	broad.mit.edu	37	13	50115896	50115896	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:50115896C>T	uc001vde.1	-	11	1501	c.1240G>A	c.(1240-1242)GAT>AAT	p.D414N		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and	414	BTB 1.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GAAAACTGATCGATTTCTATC	0.428												
TRIM13	10206	broad.mit.edu	37	13	50586282	50586282	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:50586282T>C	uc001vdq.1	+	3	519	c.206T>C	c.(205-207)CTG>CCG	p.L69P	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|TRIM13_uc001vdp.1_Missense_Mutation_p.L72P|TRIM13_uc001vdr.1_Missense_Mutation_p.L69P|TRIM13_uc001vds.1_Missense_Mutation_p.L69P	NM_052811	NP_434698	O60858	TRI13_HUMAN	ret finger protein 2 isoform 1	69					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		ATTAATAGCCTGCAGGTTAAT	0.458												
ATP7B	540	broad.mit.edu	37	13	52548156	52548156	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:52548156T>C	uc001vfw.2	-	2	1357	c.1200A>G	c.(1198-1200)ACA>ACG	p.T400T	ATP7B_uc010adv.2_Silent_p.T400T|ATP7B_uc001vfx.2_Silent_p.T400T|ATP7B_uc001vfy.2_Silent_p.T289T|ATP7B_uc010tgt.1_Silent_p.T400T|ATP7B_uc010tgu.1_Silent_p.T400T|ATP7B_uc010tgv.1_Silent_p.T400T|ATP7B_uc010tgw.1_Silent_p.T368T	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	400	HMA 4.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TATAAAGAACTGTTGCAGTCC	0.473									Wilson_disease			
ATP7B	540	broad.mit.edu	37	13	52548764	52548764	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:52548764T>C	uc001vfw.2	-	2	749	c.592A>G	c.(592-594)AGG>GGG	p.R198G	ATP7B_uc010adv.2_Missense_Mutation_p.R198G|ATP7B_uc001vfx.2_Missense_Mutation_p.R198G|ATP7B_uc001vfy.2_Missense_Mutation_p.R198G|ATP7B_uc010tgt.1_Missense_Mutation_p.R198G|ATP7B_uc010tgu.1_Missense_Mutation_p.R198G|ATP7B_uc010tgv.1_Missense_Mutation_p.R198G|ATP7B_uc010tgw.1_Missense_Mutation_p.R166G	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	198	HMA 2.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACATGGTCCCTGAGGTCTTCG	0.483									Wilson_disease			
ATP7B	540	broad.mit.edu	37	13	52548993	52548993	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:52548993G>A	uc001vfw.2	-	2	520	c.363C>T	c.(361-363)TTC>TTT	p.F121F	ATP7B_uc010adv.2_Silent_p.F121F|ATP7B_uc001vfx.2_Silent_p.F121F|ATP7B_uc001vfy.2_Silent_p.F121F|ATP7B_uc010tgt.1_Silent_p.F121F|ATP7B_uc010tgu.1_Silent_p.F121F|ATP7B_uc010tgv.1_Silent_p.F121F|ATP7B_uc010tgw.1_Silent_p.F89F	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	121	HMA 1.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGCTGGCCTCGAAGCCCATGT	0.582									Wilson_disease			
NEK5	341676	broad.mit.edu	37	13	52686485	52686485	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:52686485A>G	uc001vge.2	-	5	371	c.231T>C	c.(229-231)TTT>TTC	p.F77F	NEK5_uc001vgf.2_Silent_p.F77F	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	77	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CCATTACAATAAACAGCCTGC	0.328												
PCDH8	5100	broad.mit.edu	37	13	53420843	53420843	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:53420843C>T	uc001vhi.2	-	1	1932	c.1729G>A	c.(1729-1731)GTT>ATT	p.V577I	PCDH8_uc001vhj.2_Missense_Mutation_p.V577I	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	577	Extracellular (Potential).|Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGGATGCGAACGTCGAGTTGG	0.652												
PCDH8	5100	broad.mit.edu	37	13	53420985	53420985	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:53420985G>A	uc001vhi.2	-	1	1790	c.1587C>T	c.(1585-1587)AAC>AAT	p.N529N	PCDH8_uc001vhj.2_Silent_p.N529N	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	529	Extracellular (Potential).|Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGACCTGGCCGTTGCGGCCCA	0.716												
OLFM4	10562	broad.mit.edu	37	13	53602983	53602983	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:53602983C>T	uc001vhl.2	+	1	12	c.12C>T	c.(10-12)GGC>GGT	p.G4G	OLFM4_uc001vhk.1_Silent_p.G4G	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	4					cell adhesion	extracellular space				skin(1)	1		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TGAGGCCCGGCCTCTCATTTC	0.587												
PCDH17	27253	broad.mit.edu	37	13	58299028	58299028	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:58299028C>A	uc001vhq.1	+	4	3972	c.3080C>A	c.(3079-3081)CCT>CAT	p.P1027H	PCDH17_uc010aec.1_Missense_Mutation_p.P1026H|PCDH17_uc001vhr.1_Missense_Mutation_p.P116H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1027	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)		GCCCTGAGCCCTCTCCTCCAA	0.488												
KLF12	11278	broad.mit.edu	37	13	74289591	74289591	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:74289591C>T	uc001vjf.2	-	7	1163	c.941G>A	c.(940-942)CGG>CAG	p.R314Q	KLF12_uc010aeq.2_Missense_Mutation_p.R314Q	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	314					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GTGGATACGCCGTTTTCTGGA	0.468												
MYCBP2	23077	broad.mit.edu	37	13	77670608	77670608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:77670608G>A	uc001vkf.2	-	58	9770	c.9679C>T	c.(9679-9681)CGA>TGA	p.R3227*	MYCBP2_uc010aev.2_Nonsense_Mutation_p.R2631*	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3227	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAGCATATCGGCCACAACCT	0.393												
SCEL	8796	broad.mit.edu	37	13	78177256	78177256	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:78177256T>C	uc001vki.2	+	18	1253	c.1083T>C	c.(1081-1083)CAT>CAC	p.H361H	SCEL_uc001vkj.2_Silent_p.H341H|SCEL_uc010thx.1_Silent_p.H339H	NM_144777	NP_659001	O95171	SCEL_HUMAN	sciellin isoform 1	361	16 X approximate tandem repeats.|6.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	p.H361Y(1)		ovary(4)|breast(1)	5		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CCAAAGGACATGAAAATACCA	0.279												
EDNRB	1910	broad.mit.edu	37	13	78477378	78477378	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:78477378T>C	uc001vko.2	-	3	972	c.714A>G	c.(712-714)ATA>ATG	p.I238M	EDNRB_uc001vkq.1_Missense_Mutation_p.I238M|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.I238M|EDNRB_uc001vkp.1_Missense_Mutation_p.I321M	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	238	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TATCAAAACCTATGGCTTCAG	0.413												
NDFIP2	54602	broad.mit.edu	37	13	80113872	80113872	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:80113872G>T	uc001vlf.2	+	4	757	c.677G>T	c.(676-678)AGA>ATA	p.R226I	NDFIP2_uc010tib.1_Missense_Mutation_p.R226I|NDFIP2_uc001vlg.2_RNA	NM_019080	NP_061953	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2 isoform 1	226	Cytoplasmic (Potential).				negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		GACCAGCTCAGAGTGGGGAAT	0.368												
SLITRK5	26050	broad.mit.edu	37	13	88329619	88329619	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:88329619C>T	uc001vln.2	+	2	2195	c.1976C>T	c.(1975-1977)TCG>TTG	p.S659L	SLITRK5_uc010tic.1_Missense_Mutation_p.S418L	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	659	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGAGGGGCGTCGTCGGTGCCC	0.647												
SLITRK5	26050	broad.mit.edu	37	13	88329914	88329914	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:88329914C>T	uc001vln.2	+	2	2490	c.2271C>T	c.(2269-2271)GGC>GGT	p.G757G	SLITRK5_uc010tic.1_Silent_p.G516G	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	757	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCCACTGGGCCACATGTGCA	0.632												
GPC5	2262	broad.mit.edu	37	13	92051399	92051399	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:92051399T>C	uc010tif.1	+	1	465	c.99T>C	c.(97-99)GTT>GTC	p.V33V		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	33						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCGAAGAAGTTCGGAAACTTT	0.677												
SLC15A1	6564	broad.mit.edu	37	13	99368134	99368134	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:99368134C>T	uc001vno.2	-	9	798	c.721G>A	c.(721-723)GGT>AGT	p.G241S		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	241	Cytoplasmic (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)	ATACTTACACCGATGCACTTG	0.403												
SLC10A2	6555	broad.mit.edu	37	13	103701701	103701701	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:103701701A>G	uc001vpy.3	-	5	1454	c.857T>C	c.(856-858)GTA>GCA	p.V286A		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	286	Helical; (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)|skin(1)	4	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAAGGTGAATACGACATTGAG	0.468												
IRS2	8660	broad.mit.edu	37	13	110434611	110434611	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:110434611G>A	uc001vqv.2	-	1	4304	c.3790C>T	c.(3790-3792)CTG>TTG	p.L1264L		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1264					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			tggggtggcagcCCGGGCTCC	0.498												
IRS2	8660	broad.mit.edu	37	13	110434772	110434772	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:110434772G>A	uc001vqv.2	-	1	4143	c.3629C>T	c.(3628-3630)GCG>GTG	p.A1210V		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1210					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CAAAGGGGGCGCCGGCTGCAA	0.711												
IRS2	8660	broad.mit.edu	37	13	110436686	110436686	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:110436686C>T	uc001vqv.2	-	1	2229	c.1715G>A	c.(1714-1716)CGC>CAC	p.R572H		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	572					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGTCCTCTTGCGCAGCCCTCG	0.692												
ATP11A	23250	broad.mit.edu	37	13	113516786	113516786	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:113516786G>A	uc001vsi.3	+	25	2976	c.2888G>A	c.(2887-2889)CGC>CAC	p.R963H	ATP11A_uc001vsj.3_Missense_Mutation_p.R963H|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	963	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTGCGCTGGCGCGTGTTCATC	0.567												
CUL4A	8451	broad.mit.edu	37	13	113899329	113899329	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:113899329C>T	uc010tjy.1	+	14	1411	c.1400C>T	c.(1399-1401)GCC>GTC	p.A467V	CUL4A_uc010tjx.1_Missense_Mutation_p.A367V|CUL4A_uc010agu.2_Missense_Mutation_p.A328V|CUL4A_uc010tjz.1_Missense_Mutation_p.A146V	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	467					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(2)|skin(1)	3	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GGGAAAAGTGCCTCAGTCGAT	0.433												
CUL4A	8451	broad.mit.edu	37	13	113900350	113900350	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:113900350G>A	uc010tjy.1	+	16	1622	c.1611G>A	c.(1609-1611)ACG>ACA	p.T537T	CUL4A_uc010tjx.1_Silent_p.T437T|CUL4A_uc010agu.2_Silent_p.T398T|CUL4A_uc010tjz.1_Silent_p.T216T	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	cullin 4A isoform 1	537					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			central_nervous_system(2)|skin(1)	3	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CAACATACACGCCCATGGAAG	0.493												
DCUN1D2	55208	broad.mit.edu	37	13	114115385	114115385	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:114115385C>A	uc001vtr.1	-	5	626	c.587G>T	c.(586-588)TGG>TTG	p.W196L	DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Missense_Mutation_p.W63L	NM_001014283	NP_001014305	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain	196	DCUN1.										0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			GAATGTGTTCCAGAGATCTAA	0.418												
TFDP1	7027	broad.mit.edu	37	13	114287502	114287502	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:114287502A>G	uc001vtw.2	+	6	588	c.376A>G	c.(376-378)AAG>GAG	p.K126E	TFDP1_uc010tkd.1_Missense_Mutation_p.K31E|TFDP1_uc010tke.1_Missense_Mutation_p.K31E|TFDP1_uc001vty.3_Missense_Mutation_p.K126E|TFDP1_uc001vtx.2_Missense_Mutation_p.K6E|TFDP1_uc010agx.2_Missense_Mutation_p.K126E	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	126	Potential.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GGTCTGCGAGAAGGTGCAGAG	0.507										TSP Lung(29;0.18)		
FAM70B	348013	broad.mit.edu	37	13	114469114	114469114	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:114469114T>C	uc001vuh.2	+	2	100	c.73T>C	c.(73-75)TCG>CCG	p.S25P	FAM70B_uc010tkh.1_Missense_Mutation_p.S25P	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	25						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GAAGAAGACGTCGCTCTGGTT	0.637												
TTC5	91875	broad.mit.edu	37	14	20760198	20760198	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:20760198A>C	uc001vwt.2	-	9	1204	c.1147T>G	c.(1147-1149)TCT>GCT	p.S383A	TTC5_uc001vwu.2_Missense_Mutation_p.S240A	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	383					DNA repair	cytoplasm|nucleus	binding			ovary(1)	1	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		ATGGCTACAGAGTCTCCAATG	0.473												
TEP1	7011	broad.mit.edu	37	14	20859819	20859819	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:20859819A>C	uc001vxe.2	-	13	2076	c.2036T>G	c.(2035-2037)GTC>GGC	p.V679G	TEP1_uc010ahk.2_Missense_Mutation_p.V29G|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.V571G	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	679					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)		ATAGACCAAGACAGTGCGGCC	0.527												
TOX4	9878	broad.mit.edu	37	14	21957415	21957415	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:21957415T>C	uc001waz.2	+	5	766	c.663T>C	c.(661-663)AAT>AAC	p.N221N	TOX4_uc001way.2_Silent_p.N91N|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.N198N|TOX4_uc010tlv.1_Silent_p.N91N	NM_014828	NP_055643	O94842	TOX4_HUMAN	epidermal Langerhans cell protein LCP1	221						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			ovary(1)	1	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AAGATCCTAATGAACCTCAGA	0.438												
SLC7A7	9056	broad.mit.edu	37	14	23243168	23243168	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:23243168C>T	uc001wgr.3	-	9	1541	c.1403G>A	c.(1402-1404)CGA>CAA	p.R468Q	SLC7A7_uc001wgs.3_Missense_Mutation_p.R468Q|SLC7A7_uc001wgt.3_Missense_Mutation_p.R468Q|SLC7A7_uc001wgu.3_Missense_Mutation_p.R468Q|SLC7A7_uc001wgv.3_Missense_Mutation_p.R468Q	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN	solute carrier family 7 member 7	468					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			ovary(1)|breast(1)	2	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GTAAAGCGGTCGCTTATGTTC	0.498												
MMP14	4323	broad.mit.edu	37	14	23311783	23311783	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:23311783C>T	uc001whc.2	+	4	779	c.545C>T	c.(544-546)GCC>GTC	p.A182V		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	182	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)		ATCTTCTTTGCCGAGGGCTTC	0.617												
ACIN1	22985	broad.mit.edu	37	14	23528387	23528387	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:23528387T>C	uc001wit.3	-	19	4324	c.3996A>G	c.(3994-3996)ACA>ACG	p.T1332T	CDH24_uc001wil.2_5'Flank|CDH24_uc010akf.2_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Silent_p.T574T|ACIN1_uc001wiq.3_Silent_p.T574T|ACIN1_uc001wir.3_Silent_p.T605T|ACIN1_uc001wis.3_Silent_p.T1013T|ACIN1_uc010akg.2_Silent_p.T1319T	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1332	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCCGCACAGGTGTGCTCCGAC	0.642											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NGDN	25983	broad.mit.edu	37	14	23944509	23944509	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:23944509A>T	uc001wjy.2	+	4	301	c.274A>T	c.(274-276)ATT>TTT	p.I92F	NGDN_uc001wjz.2_Missense_Mutation_p.I92F|NGDN_uc001wka.2_5'Flank	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	neuroguidin isoform 1	92	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus					0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		ACTGGTGGAGATTCGCACGGT	0.453												
DHRS4L1	728635	broad.mit.edu	37	14	24507062	24507062	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24507062G>T	uc010alc.2	+	2	239	c.239G>T	c.(238-240)GGG>GTG	p.G80V	DHRS4L1_uc010tnu.1_Intron	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4	80							binding|oxidoreductase activity				0						CAGGGGGAGGGGCTGAGCATG	0.667												
LRRC16B	90668	broad.mit.edu	37	14	24523933	24523933	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24523933C>T	uc001wlj.2	+	6	533	c.376C>T	c.(376-378)CGT>TGT	p.R126C		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	126										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		TTTGATCCGGCGTGGAAACGC	0.547												
RNF31	55072	broad.mit.edu	37	14	24620458	24620458	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24620458C>T	uc001wmn.1	+	9	1856	c.1607C>T	c.(1606-1608)GCT>GTT	p.A536V	RNF31_uc001wml.1_Missense_Mutation_p.A385V|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Intron|RNF31_uc001wmo.1_Missense_Mutation_p.A3V|RNF31_uc001wmp.2_RNA	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	536					CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)		GAGATGGTGGCTGAGCTGGCT	0.617												
IRF9	10379	broad.mit.edu	37	14	24633858	24633858	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24633858C>T	uc001wmq.2	+	7	812	c.685C>T	c.(685-687)CGC>TGC	p.R229C	RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Intron	NM_006084	NP_006075	Q00978	IRF9_HUMAN	interferon-stimulated transcription factor 3,	229					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00853)		CTACAACGGGCGCGTGGTGGG	0.637												
IPO4	79711	broad.mit.edu	37	14	24654689	24654689	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24654689C>A	uc001wmv.1	-	13	1385	c.1254G>T	c.(1252-1254)CTG>CTT	p.L418L	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Silent_p.L80L|IPO4_uc001wmx.1_Silent_p.L282L|IPO4_uc001wmy.1_Silent_p.L282L|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Silent_p.L418L	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	418	HEAT 2.				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		AGAACTGGCCCAGGGCAAACA	0.562												
ADCY4	196883	broad.mit.edu	37	14	24800306	24800306	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24800306G>A	uc001wov.2	-	6	854	c.848C>T	c.(847-849)ACG>ATG	p.T283M	ADCY4_uc001wow.2_Missense_Mutation_p.T283M|ADCY4_uc010toh.1_Translation_Start_Site|ADCY4_uc001wox.2_Missense_Mutation_p.T283M|ADCY4_uc001woy.2_Missense_Mutation_p.T283M	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	283	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	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		GGCCAGCCGCGTGAAGCCCAC	0.587												
RIPK3	11035	broad.mit.edu	37	14	24808695	24808695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24808695C>T	uc001wpb.2	-	2	339	c.129G>A	c.(127-129)TGG>TGA	p.W43*	RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Nonsense_Mutation_p.W43*	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	43	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			central_nervous_system(2)|ovary(1)|lung(1)	4				GBM - Glioblastoma multiforme(265;0.0181)		CATCGTAGCCCCACTTCCTAT	0.622												
HECTD1	25831	broad.mit.edu	37	14	31604737	31604737	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:31604737G>A	uc001wrc.1	-	21	3688	c.3199C>T	c.(3199-3201)CAC>TAC	p.H1067Y	HECTD1_uc001wrd.1_Missense_Mutation_p.H582Y	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1067					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCATGCTGGTGCCGAAATATA	0.323												
NUBPL	80224	broad.mit.edu	37	14	32295920	32295920	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:32295920C>T	uc001wrk.3	+	8	748	c.693C>T	c.(691-693)CCC>CCT	p.P231P	NUBPL_uc010amj.2_RNA|NUBPL_uc010tpl.1_Silent_p.P135P	NM_025152	NP_079428	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	231					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding				0	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		TCCACGTGCCCGTAAGCGTTT	0.423												
INSM2	84684	broad.mit.edu	37	14	36004421	36004421	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:36004421C>T	uc001wth.1	+	1	1174	c.963C>T	c.(961-963)AAC>AAT	p.N321N		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CGGCTGCAAACGCCGCCACAG	0.652												
PAX9	5083	broad.mit.edu	37	14	37132287	37132287	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:37132287G>A	uc001wty.3	+	3	907	c.190G>A	c.(190-192)GGC>AGC	p.G64S	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	64	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CAACGAGACGGGCTCGATCTT	0.642												
CLEC14A	161198	broad.mit.edu	37	14	38724473	38724473	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:38724473C>T	uc001wum.1	-	1	1102	c.755G>A	c.(754-756)CGT>CAT	p.R252H		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	252	Extracellular (Potential).|EGF-like.					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TTTGCCAGCACGGAGGTACCT	0.617												
FSCB	84075	broad.mit.edu	37	14	44975176	44975176	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:44975176C>T	uc001wvn.2	-	1	1324	c.1015G>A	c.(1015-1017)GAA>AAA	p.E339K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	339	Pro-rich.					cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		GGAGACTCTTCAGCTGATGGA	0.517												
FSCB	84075	broad.mit.edu	37	14	44975348	44975348	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:44975348C>T	uc001wvn.2	-	1	1152	c.843G>A	c.(841-843)GCG>GCA	p.A281A		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	281						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		GTCTGGGCTCCGCTTTAGCAG	0.478												
C14orf106	55320	broad.mit.edu	37	14	45693302	45693302	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:45693302T>C	uc001wwf.2	-	11	2947	c.2488A>G	c.(2488-2490)ATC>GTC	p.I830V		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	830					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						TTTTGTTTGATATAAAATTCA	0.373												
DDHD1	80821	broad.mit.edu	37	14	53513591	53513591	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:53513591C>T	uc001xai.2	-	13	2828	c.2598G>A	c.(2596-2598)TCG>TCA	p.S866S	DDHD1_uc001xaj.2_Silent_p.S845S|DDHD1_uc001xah.2_Silent_p.S838S|DDHD1_uc001xag.2_Silent_p.S420S	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	866	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					AGGCAGTATGCGACGTGACAG	0.408												
KIAA0586	9786	broad.mit.edu	37	14	58955434	58955434	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:58955434C>T	uc001xdv.3	+	23	3668	c.3395C>T	c.(3394-3396)GCC>GTC	p.A1132V	KIAA0586_uc010trr.1_Missense_Mutation_p.A1249V|KIAA0586_uc001xdt.3_Missense_Mutation_p.A1164V|KIAA0586_uc001xdu.3_Missense_Mutation_p.A1193V|KIAA0586_uc010trs.1_Missense_Mutation_p.A1123V|KIAA0586_uc010trt.1_Missense_Mutation_p.A1068V	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	1132										ovary(1)	1						CCATTTCCTGCCGGCACCAAG	0.493												
DACT1	51339	broad.mit.edu	37	14	59113370	59113370	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:59113370C>T	uc001xdw.2	+	4	2193	c.2029C>T	c.(2029-2031)CGG>TGG	p.R677W	DACT1_uc010trv.1_Missense_Mutation_p.R396W|DACT1_uc001xdx.2_Missense_Mutation_p.R640W|DACT1_uc010trw.1_Missense_Mutation_p.R396W	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	677					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						AACTGACTACCGGCGGTGGAA	0.721												
DACT1	51339	broad.mit.edu	37	14	59113705	59113705	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:59113705C>T	uc001xdw.2	+	4	2528	c.2364C>T	c.(2362-2364)GTC>GTT	p.V788V	DACT1_uc010trv.1_Silent_p.V507V|DACT1_uc001xdx.2_Silent_p.V751V|DACT1_uc010trw.1_Silent_p.V507V	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	788					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						CCCAGTTTGTCCAGACTCTGC	0.537												
KCNH5	27133	broad.mit.edu	37	14	63417226	63417226	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:63417226C>A	uc001xfx.2	-	7	1045	c.994G>T	c.(994-996)GGC>TGC	p.G332C	KCNH5_uc001xfy.2_Missense_Mutation_p.G332C|KCNH5_uc001xfz.1_Missense_Mutation_p.G274C|KCNH5_uc001xga.2_Missense_Mutation_p.G274C	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	332	Helical; Voltage-sensor; Name=Segment S4; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCCACACGGCCCAGTCGTAAG	0.458												
SYNE2	23224	broad.mit.edu	37	14	64604578	64604578	+	Missense_Mutation	SNP	C	C	T	rs144804554	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:64604578C>T	uc001xgm.2	+	79	14950	c.14720C>T	c.(14719-14721)GCG>GTG	p.A4907V	SYNE2_uc001xgl.2_Missense_Mutation_p.A4907V|SYNE2_uc010apy.2_Missense_Mutation_p.A1292V|SYNE2_uc001xgn.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4907	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)		CAGTTGGTGGCGTCTGTGAGC	0.443												
SYNE2	23224	broad.mit.edu	37	14	64630228	64630228	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:64630228G>T	uc001xgm.2	+	89	16638	c.16408G>T	c.(16408-16410)GGC>TGC	p.G5470C	SYNE2_uc001xgl.2_Missense_Mutation_p.G5470C|SYNE2_uc010apy.2_Missense_Mutation_p.G1855C|SYNE2_uc001xgn.2_Missense_Mutation_p.G432C|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5470	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)		GCTCCTCCCGGGCCCCCTGCA	0.478												
SYNE2	23224	broad.mit.edu	37	14	64690024	64690024	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:64690024C>T	uc001xgm.2	+	112	20469	c.20239C>T	c.(20239-20241)CAT>TAT	p.H6747Y	SYNE2_uc001xgl.2_Missense_Mutation_p.H6770Y|SYNE2_uc010apy.2_Missense_Mutation_p.H3132Y|SYNE2_uc001xgn.2_Missense_Mutation_p.H1709Y|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.H717Y|SYNE2_uc001xgq.2_Missense_Mutation_p.H1126Y|SYNE2_uc001xgr.2_Missense_Mutation_p.H530Y|SYNE2_uc010tsi.1_Missense_Mutation_p.H404Y|SYNE2_uc001xgs.2_Missense_Mutation_p.H418Y|SYNE2_uc001xgt.2_Missense_Mutation_p.H292Y	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6747	Potential.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAAAAGGTGCATGTTATTGA	0.433												
PLEKHG3	26030	broad.mit.edu	37	14	65197815	65197815	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:65197815T>C	uc001xho.1	+	7	1046	c.777T>C	c.(775-777)ATT>ATC	p.I259I	PLEKHG3_uc001xhn.1_Silent_p.I203I|PLEKHG3_uc001xhp.2_Silent_p.I259I|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	259	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGGATGCCATTGACACCATGA	0.577												
PLEKHG3	26030	broad.mit.edu	37	14	65208145	65208145	+	Missense_Mutation	SNP	G	G	A	rs141823128		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:65208145G>A	uc001xho.1	+	16	2179	c.1910G>A	c.(1909-1911)CGG>CAG	p.R637Q	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R581Q|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R758Q|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R179Q|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R142Q	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	637					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTGGTCAGCCGGAGCAGCAGC	0.657												
SPTB	6710	broad.mit.edu	37	14	65239533	65239533	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:65239533T>C	uc001xht.2	-	25	5372	c.5318A>G	c.(5317-5319)GAC>GGC	p.D1773G	SPTB_uc001xhr.2_Missense_Mutation_p.D1773G|SPTB_uc001xhs.2_Missense_Mutation_p.D1773G|SPTB_uc001xhu.2_Missense_Mutation_p.D1773G|SPTB_uc010aqi.2_Missense_Mutation_p.D434G	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	1773	Spectrin 15.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTTCAGCCCGTCCTTCCACTC	0.637												
RDH12	145226	broad.mit.edu	37	14	68193827	68193827	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:68193827G>A	uc001xjz.3	+	7	902	c.578G>A	c.(577-579)CGC>CAC	p.R193H		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12	193			R -> C (in retinal dystrophy; uncertain pathogenicity).		photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	AGCGAGAAGCGCTACAGCAGG	0.557												
ZFYVE26	23503	broad.mit.edu	37	14	68217772	68217772	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:68217772G>A	uc001xka.2	-	41	7552	c.7413C>T	c.(7411-7413)AAC>AAT	p.N2471N	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Silent_p.N317N	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2471					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CGCTCACCTTGTTGTCATCAT	0.517												
ADAM21	8747	broad.mit.edu	37	14	70924617	70924617	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:70924617G>T	uc001xmd.2	+	1	401	c.401G>T	c.(400-402)GGA>GTA	p.G134V		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	134					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGCTTTCGAGGAGTATTAAAA	0.438												
ADAM21	8747	broad.mit.edu	37	14	70925702	70925702	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:70925702T>C	uc001xmd.2	+	1	1486	c.1486T>C	c.(1486-1488)TGT>CGT	p.C496R		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	496	Cys-rich.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGATCCCCTGTAGTGACAG	0.438												
MAP3K9	4293	broad.mit.edu	37	14	71199959	71199959	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:71199959G>A	uc001xmm.2	-	11	2127	c.2127C>T	c.(2125-2127)GGC>GGT	p.G709G	MAP3K9_uc010ttk.1_Silent_p.G437G|MAP3K9_uc001xmk.2_Silent_p.G442G|MAP3K9_uc001xml.2_Silent_p.G723G	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	709					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGGGGCCATCGCCATCCTCTC	0.428												
SIPA1L1	26037	broad.mit.edu	37	14	72055061	72055061	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:72055061G>A	uc001xms.2	+	2	820	c.472G>A	c.(472-474)GCC>ACC	p.A158T	SIPA1L1_uc001xmt.2_Missense_Mutation_p.A158T|SIPA1L1_uc001xmu.2_Missense_Mutation_p.A158T|SIPA1L1_uc001xmv.2_Missense_Mutation_p.A158T	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	158					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CATGCCTGAAGCCTACCCCAG	0.468												
SIPA1L1	26037	broad.mit.edu	37	14	72117190	72117190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:72117190G>T	uc001xms.2	+	5	2305	c.1957G>T	c.(1957-1959)GGA>TGA	p.G653*	SIPA1L1_uc001xmt.2_Nonsense_Mutation_p.G653*|SIPA1L1_uc001xmu.2_Nonsense_Mutation_p.G653*|SIPA1L1_uc001xmv.2_Nonsense_Mutation_p.G653*|SIPA1L1_uc010ttm.1_Nonsense_Mutation_p.G128*	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	653	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCGGCTCAAAGGATTTGAGAA	0.453												
ZFYVE1	53349	broad.mit.edu	37	14	73491079	73491079	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:73491079C>T	uc001xnm.2	-	2	778	c.138G>A	c.(136-138)GAG>GAA	p.E46E	ZFYVE1_uc010arj.2_Silent_p.E46E	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	46						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			skin(1)	1		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GGAGCTCCTCCTCGCAGCGGA	0.567												
RBM25	58517	broad.mit.edu	37	14	73563627	73563627	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:73563627C>T	uc001xno.2	+	7	756	c.548C>T	c.(547-549)GCA>GTA	p.A183V	RBM25_uc001xnn.3_Missense_Mutation_p.A183V|RBM25_uc010ttu.1_Missense_Mutation_p.A183V|RBM25_uc001xnp.2_5'UTR	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	183					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TTTAAGAATGCAAGGCCAGAA	0.343												
PAPLN	89932	broad.mit.edu	37	14	73729212	73729212	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:73729212C>T	uc010ttx.1	+	18	2563	c.2400C>T	c.(2398-2400)TGC>TGT	p.C800C	PAPLN_uc001xnw.3_Silent_p.C773C|PAPLN_uc010arl.2_Intron|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.C784C|PAPLN_uc010arm.2_5'UTR|PAPLN_uc010arn.2_5'UTR	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	800	BPTI/Kunitz inhibitor.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGCAAGAGTGCATGAGCAGCT	0.622												
C14orf115	55237	broad.mit.edu	37	14	74824125	74824125	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:74824125C>T	uc001xpw.3	+	2	830	c.639C>T	c.(637-639)CAC>CAT	p.H213H		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	213					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GCTGCGACCACGTGCCCTCCA	0.637												
C14orf115	55237	broad.mit.edu	37	14	74824348	74824348	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:74824348C>T	uc001xpw.3	+	2	1053	c.862C>T	c.(862-864)CGC>TGC	p.R288C		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	288					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		CCTCTGTGAGCGCTACAGCGT	0.647												
MLH3	27030	broad.mit.edu	37	14	75515217	75515217	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:75515217C>T	uc001xrd.1	-	2	1358	c.1142G>A	c.(1141-1143)CGT>CAT	p.R381H	MLH3_uc001xre.1_Missense_Mutation_p.R381H|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	381					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGAAGTCACACGCTTCTGAAG	0.318								MMR				
FAM164C	79696	broad.mit.edu	37	14	75537318	75537318	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:75537318C>T	uc001xri.2	+	2	215	c.42C>T	c.(40-42)GGC>GGT	p.G14G	FAM164C_uc001xrh.2_Silent_p.G14G	NM_001042430	NP_001035895	Q53FD0	F164C_HUMAN	chromosome 14 open reading frame 140 isoform b	14										ovary(1)	1						TGCCTGTGGGCGTTATGCTCC	0.557												
TGFB3	7043	broad.mit.edu	37	14	76437518	76437518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:76437518C>T	uc001xsc.2	-	3	1453	c.597G>A	c.(595-597)TGG>TGA	p.W199*	TGFB3_uc001xsd.2_Nonsense_Mutation_p.W197*	NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor	199					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CAAAGGACAGCCACTCGGCAG	0.532												
AHSA1	10598	broad.mit.edu	37	14	77929018	77929018	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:77929018A>G	uc001xtw.2	+	4	548	c.388A>G	c.(388-390)ACA>GCA	p.T130A	AHSA1_uc010tvk.1_Missense_Mutation_p.T130A	NM_012111	NP_036243	O95433	AHSA1_HUMAN	activator of heat shock 90kDa protein ATPase	130					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGAGCCTGACACAAATCTCGT	0.458												
C14orf145	145508	broad.mit.edu	37	14	81251764	81251764	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:81251764G>T	uc001xux.2	-	14	1857	c.1686C>A	c.(1684-1686)TCC>TCA	p.S562S	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	562	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TCTCCTCCTTGGAGTGAAGCT	0.423												
C14orf145	145508	broad.mit.edu	37	14	81382809	81382809	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:81382809C>T	uc001xux.2	-	2	254	c.83G>A	c.(82-84)GGA>GAA	p.G28E	C14orf145_uc001xuz.2_Missense_Mutation_p.G28E|C14orf145_uc001xva.1_Missense_Mutation_p.G28E|C14orf145_uc010ata.1_Missense_Mutation_p.G28E	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	28						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		ACTTCGAGTTCCCCTGTGCGT	0.423												
KCNK10	54207	broad.mit.edu	37	14	88658749	88658749	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:88658749C>G	uc001xwo.2	-	5	1129	c.672G>C	c.(670-672)AAG>AAC	p.K224N	KCNK10_uc001xwm.2_Missense_Mutation_p.K229N|KCNK10_uc001xwn.2_Missense_Mutation_p.K229N	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	224	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						GACTCACTTGCTTTTTCTAGG	0.448												
C14orf102	55051	broad.mit.edu	37	14	90770560	90770560	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:90770560T>C	uc001xyi.1	-	5	755	c.724A>G	c.(724-726)AAA>GAA	p.K242E	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.1_Missense_Mutation_p.K11E	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	242	Potential.						protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GGTTCAGTTTTACTGCTAATG	0.453												
C14orf159	80017	broad.mit.edu	37	14	91666132	91666132	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:91666132G>A	uc001xzb.2	+	13	2080	c.1312G>A	c.(1312-1314)GGA>AGA	p.G438R	C14orf159_uc001xyx.2_Missense_Mutation_p.G426R|C14orf159_uc001xyw.2_Missense_Mutation_p.G443R|C14orf159_uc001xzc.2_Missense_Mutation_p.G438R|C14orf159_uc001xza.2_Missense_Mutation_p.G443R|C14orf159_uc001xyv.2_Missense_Mutation_p.G443R|C14orf159_uc001xyz.2_Missense_Mutation_p.G314R|C14orf159_uc001xze.2_Missense_Mutation_p.G438R	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	438						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		AGAGCGTGCCGGAAGAGCTGC	0.517												
RIN3	79890	broad.mit.edu	37	14	93119308	93119308	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:93119308G>A	uc001yap.2	+	6	2066	c.1914G>A	c.(1912-1914)ACG>ACA	p.T638T	RIN3_uc010auk.2_Silent_p.T300T|RIN3_uc001yaq.2_Silent_p.T563T|RIN3_uc001yar.1_Silent_p.T300T|RIN3_uc001yas.1_Silent_p.T300T	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	638	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CCTCCAGCACGGAGATGCTGC	0.627												
RIN3	79890	broad.mit.edu	37	14	93125675	93125675	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:93125675C>T	uc001yap.2	+	7	2348	c.2196C>T	c.(2194-2196)AGC>AGT	p.S732S	RIN3_uc010auk.2_Silent_p.S394S|RIN3_uc001yaq.2_Silent_p.S657S|RIN3_uc001yar.1_Silent_p.S394S|RIN3_uc001yas.1_Silent_p.S394S	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	732	Interaction with RAB5B.|VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				TGACCACCAGCGTGCCGGAGG	0.552												
GOLGA5	9950	broad.mit.edu	37	14	93263965	93263965	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:93263965G>A	uc001yaz.1	+	2	365	c.183G>A	c.(181-183)ACG>ACA	p.T61T		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	61	Cytoplasmic (Potential).				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CTAAATCTACGTATATTTCAT	0.393			T	RET	papillary thyroid							
KIAA1409	57578	broad.mit.edu	37	14	94149032	94149032	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:94149032G>A	uc001ybv.1	+	41	6546	c.6463G>A	c.(6463-6465)GTA>ATA	p.V2155I	KIAA1409_uc001ybs.1_Missense_Mutation_p.V2133I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2310						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		GATAGCCTCTGTACCTGGAGT	0.269												
SERPINA10	51156	broad.mit.edu	37	14	94754760	94754760	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:94754760A>G	uc001yct.2	-	3	1321	c.855T>C	c.(853-855)TGT>TGC	p.C285C	SERPINA10_uc001ycu.3_Silent_p.C285C	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	285					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGAGGACATGACAACGAAAAT	0.502												
SERPINA5	5104	broad.mit.edu	37	14	95056471	95056471	+	Missense_Mutation	SNP	G	G	A	rs141881639		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:95056471G>A	uc001ydm.2	+	4	923	c.713G>A	c.(712-714)CGC>CAC	p.R238H	SERPINA5_uc010ave.2_Missense_Mutation_p.R238H|SERPINA3_uc001ydo.3_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade	238					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ATGATGAGCCGCGAGGATCAG	0.562												
DICER1	23405	broad.mit.edu	37	14	95590984	95590984	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:95590984C>T	uc001ydw.2	-	9	1107	c.925G>A	c.(925-927)GTA>ATA	p.V309I	DICER1_uc001ydv.2_Missense_Mutation_p.V299I|DICER1_uc001ydx.2_Missense_Mutation_p.V309I	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	309	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACTACCAATACGGCACGACAG	0.383			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
BDKRB2	624	broad.mit.edu	37	14	96707293	96707293	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:96707293G>A	uc010avm.1	+	3	824	c.628G>A	c.(628-630)GCT>ACT	p.A210T	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.A183T|BDKRB2_uc001yfg.2_Missense_Mutation_p.A210T	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	210	Extracellular (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CAACGTCACCGCTTGTGTCAT	0.567												
ATG2B	55102	broad.mit.edu	37	14	96756052	96756052	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:96756052C>T	uc001yfi.2	-	41	6312	c.5947G>A	c.(5947-5949)GCC>ACC	p.A1983T		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1983										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCTGGTGGGCTAACCGGTGA	0.507												
DLK1	8788	broad.mit.edu	37	14	101193447	101193447	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:101193447G>A	uc001yhs.3	+	1	195	c.42G>A	c.(40-42)CTG>CTA	p.L14L	DLK1_uc001yhu.3_Silent_p.L14L	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	14					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)|breast(1)|skin(1)	4		Melanoma(154;0.155)				TCTTGCTCCTGCTGGCTTTCG	0.657												
XRCC3	7517	broad.mit.edu	37	14	104174899	104174899	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:104174899T>C	uc001yny.3	-	5	533	c.153A>G	c.(151-153)AGA>AGG	p.R51R	XRCC3_uc001ynx.3_Silent_p.R51R|XRCC3_uc001ynz.3_Silent_p.R51R|XRCC3_uc001yoa.3_Silent_p.R51R|XRCC3_uc001yob.1_RNA	NM_005432	NP_005423	O43542	XRCC3_HUMAN	X-ray repair cross complementing protein 3	51					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		AGGAGGCCGTTCTCAGCAAGT	0.557								Direct_reversal_of_damage|Homologous_recombination				
AHNAK2	113146	broad.mit.edu	37	14	105416436	105416436	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:105416436C>T	uc010axc.1	-	7	5472	c.5352G>A	c.(5350-5352)GTG>GTA	p.V1784V	AHNAK2_uc001ypx.2_Silent_p.V1684V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1784						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGCAGAGACACCTCCACGT	0.662												
AHNAK2	113146	broad.mit.edu	37	14	105418901	105418901	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:105418901T>C	uc010axc.1	-	7	3007	c.2887A>G	c.(2887-2889)AGC>GGC	p.S963G	AHNAK2_uc001ypx.2_Missense_Mutation_p.S863G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	963						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTCCATGCTGGGCAGAGAC	0.637												
CRIP1	1396	broad.mit.edu	37	14	105954714	105954714	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:105954714T>C	uc001yri.3	+	4	296	c.182T>C	c.(181-183)TTT>TCT	p.F61S	C14orf80_uc001yrj.2_5'Flank|C14orf80_uc001yrk.2_5'Flank|C14orf80_uc001yrn.2_5'Flank|C14orf80_uc001yro.2_5'Flank|C14orf80_uc001yrm.2_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	61	LIM zinc-binding.				cell proliferation	cytoplasm	zinc ion binding				0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GCAGCCATGTTTGGGCCTAAA	0.537												
MAGEL2	54551	broad.mit.edu	37	15	23890497	23890497	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:23890497G>T	uc001ywj.3	-	1	679	c.584C>A	c.(583-585)CCT>CAT	p.P195H		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)		CAGAGAGGCAGGCTGAAACTG	0.587												
C15orf2	23742	broad.mit.edu	37	15	24921102	24921102	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:24921102C>T	uc001ywo.2	+	1	562	c.88C>T	c.(88-90)CGG>TGG	p.R30W		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	30					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCCCCTGTCCCGGGACGCCTC	0.706												
C15orf2	23742	broad.mit.edu	37	15	24922701	24922701	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:24922701G>A	uc001ywo.2	+	1	2161	c.1687G>A	c.(1687-1689)GCC>ACC	p.A563T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	563					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AAACGCATCTGCCCACCTAAC	0.488												
C15orf2	23742	broad.mit.edu	37	15	24923732	24923732	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:24923732G>A	uc001ywo.2	+	1	3192	c.2718G>A	c.(2716-2718)GGG>GGA	p.G906G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	906					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCACTGATGGGCAGCAGAAGT	0.502												
ATP10A	57194	broad.mit.edu	37	15	25925976	25925976	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:25925976C>T	uc010ayu.2	-	19	3765	c.3659G>A	c.(3658-3660)GGC>GAC	p.G1220D		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1220	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)		GGTTTCAATGCCCAGGTGGAG	0.557												
HERC2	8924	broad.mit.edu	37	15	28389353	28389353	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:28389353G>A	uc001zbj.2	-	73	11275	c.11169C>T	c.(11167-11169)TGC>TGT	p.C3723C		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3723					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)		AGGAGAGGACGCAGCGGTCAG	0.547												
HERC2	8924	broad.mit.edu	37	15	28408275	28408275	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:28408275C>T	uc001zbj.2	-	69	10817	c.10711G>A	c.(10711-10713)GCG>ACG	p.A3571T		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3571					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)		GAAAGCACCGCGGAGAGCACA	0.652												
HERC2	8924	broad.mit.edu	37	15	28501287	28501287	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:28501287C>T	uc001zbj.2	-	18	2800	c.2694G>A	c.(2692-2694)CTG>CTA	p.L898L	HERC2_uc001zbl.1_Silent_p.L593L	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	898					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)		CCGCGGTGGGCAGCAGCACGG	0.706												
TJP1	7082	broad.mit.edu	37	15	29997794	29997794	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:29997794T>C	uc001zcr.2	-	26	5481	c.5006A>G	c.(5005-5007)CAG>CGG	p.Q1669R	TJP1_uc010azl.2_Missense_Mutation_p.Q1657R|TJP1_uc001zcq.2_Missense_Mutation_p.Q1593R|TJP1_uc001zcs.2_Missense_Mutation_p.Q1589R	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1669	ZU5.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATAGATTTCCTGCTCAACTCC	0.423												
MTMR15	22909	broad.mit.edu	37	15	31206262	31206262	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:31206262C>T	uc001zff.2	+	5	2070	c.1779C>T	c.(1777-1779)ACC>ACT	p.T593T	MTMR15_uc001zfe.2_Silent_p.T198T	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	593					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		ATCGGAAAACCCACATCTTCC	0.413								Direct_reversal_of_damage|Editing_and_processing_nucleases				
MTMR10	54893	broad.mit.edu	37	15	31239334	31239334	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:31239334G>A	uc001zfh.1	-	14	1645	c.1547C>T	c.(1546-1548)ACG>ATG	p.T516M	MTMR10_uc010ubk.1_Translation_Start_Site|MTMR10_uc001zfg.1_Missense_Mutation_p.T97M|MTMR10_uc010azx.1_Missense_Mutation_p.T268M|MTMR10_uc001zfi.1_Missense_Mutation_p.T268M|MTMR10_uc001zfj.2_Missense_Mutation_p.T434M|MTMR10_uc001zfk.2_Missense_Mutation_p.T268M	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	516	Myotubularin phosphatase.						phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GTTGCTTACCGTGCTTTGCTT	0.453												
CHRNA7	1139	broad.mit.edu	37	15	32460211	32460211	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:32460211G>A	uc001zft.2	+	10	1133	c.1061G>A	c.(1060-1062)CGC>CAC	p.R354H	uc001zfv.1_Intron|CHRNA7_uc010baf.2_Missense_Mutation_p.R173H|CHRNA7_uc010bak.2_Missense_Mutation_p.R269H	NM_000746	NP_000737	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7	354	Cytoplasmic (Potential).				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			ovary(1)	1		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GACAAGGTGCGCCCGGCCTGC	0.652												
RYR3	6263	broad.mit.edu	37	15	33938573	33938573	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:33938573A>G	uc001zhi.2	+	29	3857	c.3787A>G	c.(3787-3789)ATG>GTG	p.M1263V	RYR3_uc010bar.2_Missense_Mutation_p.M1263V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1263	4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATGGCACCATGGACAGCCC	0.522												
RYR3	6263	broad.mit.edu	37	15	34014936	34014936	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:34014936G>A	uc001zhi.2	+	44	6710	c.6640G>A	c.(6640-6642)GCC>ACC	p.A2214T	RYR3_uc010bar.2_Missense_Mutation_p.A2214T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2214	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)		GGAAGAAAACGCCAGCGTTGT	0.562												
SLC12A6	9990	broad.mit.edu	37	15	34528946	34528946	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:34528946C>T	uc001zhw.2	-	22	3169	c.3005G>A	c.(3004-3006)CGG>CAG	p.R1002Q	SLC12A6_uc001zhv.2_Missense_Mutation_p.R951Q|SLC12A6_uc001zhx.2_Missense_Mutation_p.R987Q|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.R943Q|SLC12A6_uc001zib.2_Missense_Mutation_p.R993Q|SLC12A6_uc001zic.2_Missense_Mutation_p.R1002Q|SLC12A6_uc010bau.2_Missense_Mutation_p.R1002Q|SLC12A6_uc001zid.2_Missense_Mutation_p.R943Q|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.R814Q	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	1002	Cytoplasmic (Potential).				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCGCATGTGCCGGAGCATCTG	0.458												
AQR	9716	broad.mit.edu	37	15	35210478	35210478	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:35210478A>G	uc001ziv.2	-	15	1504	c.1323T>C	c.(1321-1323)ACT>ACC	p.T441T		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	441						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)		AATAGTACTCAGTTGGGACAA	0.353												
RASGRP1	10125	broad.mit.edu	37	15	38811574	38811574	+	Splice_Site	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:38811574T>C	uc001zke.3	-	4	505	c.327_splice	c.e4-1	p.L109_splice	RASGRP1_uc010bbe.2_Splice_Site|RASGRP1_uc010bbf.2_Splice_Site|RASGRP1_uc010bbg.2_Splice_Site|RASGRP1_uc001zkd.3_Splice_Site_p.L109_splice	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a						cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCCTTATAGGTAGGGCTGTGG	0.373												
FSIP1	161835	broad.mit.edu	37	15	40030381	40030381	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:40030381G>T	uc001zki.2	-	8	1020	c.802C>A	c.(802-804)CCA>ACA	p.P268T		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	268										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATAACCACTGGGTTTCTTGAT	0.388												
BMF	90427	broad.mit.edu	37	15	40396520	40396520	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:40396520G>T	uc001zkv.2	-	3	400	c.314C>A	c.(313-315)CCT>CAT	p.P105H	BMF_uc001zkt.2_Missense_Mutation_p.P105H|BMF_uc001zku.2_Intron|BMF_uc001zkw.2_Missense_Mutation_p.P105H	NM_033503	NP_277038	Q96LC9	BMF_HUMAN	Bcl2 modifying factor isoform bmf-1	105					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			ovary(1)	1		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		GGCAGGGAGAGGAAGCCGATA	0.572												
PLCB2	5330	broad.mit.edu	37	15	40581489	40581489	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:40581489C>T	uc001zld.2	-	31	3639	c.3338G>A	c.(3337-3339)CGG>CAG	p.R1113Q	PLCB2_uc001zlc.2_Missense_Mutation_p.R97Q|PLCB2_uc010bbo.2_Missense_Mutation_p.R1109Q|PLCB2_uc010ucm.1_Missense_Mutation_p.R1098Q	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1113	Potential.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTCCATCTCCCGTATCTGTTC	0.582												
DISP2	85455	broad.mit.edu	37	15	40656439	40656439	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:40656439C>A	uc001zlk.1	+	3	551	c.462C>A	c.(460-462)GCC>GCA	p.A154A		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	154					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)		AGGAACGAGCCTTCCAGATGC	0.597												
FAM82A2	55177	broad.mit.edu	37	15	41043668	41043668	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41043668C>T	uc001zmo.1	-	4	624	c.480G>A	c.(478-480)ACG>ACA	p.T160T	FAM82A2_uc001zmp.1_Silent_p.T160T|FAM82A2_uc001zmq.1_Silent_p.T160T	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	family with sequence similarity 82, member A2	160					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding				0						CCGAGGAGGCCGTGAAGTAGA	0.557												
RHOV	171177	broad.mit.edu	37	15	41165524	41165524	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41165524C>A	uc001znd.2	-	3	593	c.443G>T	c.(442-444)AGG>ATG	p.R148M		NM_133639	NP_598378	Q96L33	RHOV_HUMAN	ras homolog gene family, member V	148					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion 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;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GACATCGTCCCTCAGGTCGGC	0.652												
VPS18	57617	broad.mit.edu	37	15	41192775	41192775	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41192775G>A	uc001zne.2	+	4	2098	c.1759G>A	c.(1759-1761)GCC>ACC	p.A587T		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	587					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCCGTGCTCGCCCGCCACCG	0.597												
CHAC1	79094	broad.mit.edu	37	15	41245901	41245901	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41245901C>T	uc001znh.2	+	1	266	c.246C>T	c.(244-246)TCC>TCT	p.S82S	CHAC1_uc010uct.1_Silent_p.S82S	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	82					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)		GGTACGGCTCCCTGGTGTGGA	0.677												
NUSAP1	51203	broad.mit.edu	37	15	41650447	41650447	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41650447T>C	uc001zns.3	+	6	881	c.651T>C	c.(649-651)AAT>AAC	p.N217N	NUSAP1_uc001znq.3_Silent_p.N22N|NUSAP1_uc001znr.3_Silent_p.N217N|NUSAP1_uc010bce.2_Silent_p.N217N|NUSAP1_uc001znt.3_Silent_p.N202N|NUSAP1_uc001znv.3_Silent_p.N216N|NUSAP1_uc001znu.3_Silent_p.N216N|NUSAP1_uc010ucw.1_Silent_p.N194N|NUSAP1_uc001znw.3_Silent_p.N22N	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	217					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		ATTCCATGAATGAACTGAAGG	0.299												
ITPKA	3706	broad.mit.edu	37	15	41795299	41795299	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41795299G>A	uc001znz.2	+	7	1332	c.1321G>A	c.(1321-1323)GAG>AAG	p.E441K		NM_002220	NP_002211	P23677	IP3KA_HUMAN	1D-myo-inositol-trisphosphate 3-kinase A	441					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GGGCAACCGCGAGGACGGCTA	0.677												
RPAP1	26015	broad.mit.edu	37	15	41813935	41813935	+	Splice_Site	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41813935C>T	uc001zod.2	-	21	3162	c.3038_splice	c.e21+1	p.P1013_splice	RPAP1_uc001zoc.2_Splice_Site_p.P32_splice	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1							nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAAGCACTTACGGGAGGAACT	0.423												
RPAP1	26015	broad.mit.edu	37	15	41819247	41819247	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41819247A>G	uc001zod.2	-	14	1890	c.1766T>C	c.(1765-1767)CTG>CCG	p.L589P		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	589						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGTCTCTATCAGCCGAGGGCA	0.557												
TYRO3	7301	broad.mit.edu	37	15	41859581	41859581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41859581G>A	uc001zof.1	+	7	1031	c.807G>A	c.(805-807)TGG>TGA	p.W269*		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	269	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAGGAGGCTGGGAAGTCCTGG	0.572												
MGA	23269	broad.mit.edu	37	15	42058413	42058413	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:42058413G>A	uc010ucy.1	+	24	8314	c.8133G>A	c.(8131-8133)GTG>GTA	p.V2711V	MGA_uc010ucz.1_Silent_p.V2502V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	2672						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)		ATGGCAGAGTGACGTTGGGTC	0.433												
SPTBN5	51332	broad.mit.edu	37	15	42144453	42144453	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:42144453A>G	uc001zos.2	-	62	10739	c.10406T>C	c.(10405-10407)CTG>CCG	p.L3469P		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3504					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)		AAAGGATGTCAGCGAGCTGCC	0.647												
SPTBN5	51332	broad.mit.edu	37	15	42147121	42147121	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:42147121C>A	uc001zos.2	-	56	9705	c.9372G>T	c.(9370-9372)CAG>CAT	p.Q3124H		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3159	Spectrin 28.				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)		ACACCTTGGCCTGGCCCAGGC	0.582												
SPTBN5	51332	broad.mit.edu	37	15	42158575	42158575	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:42158575C>A	uc001zos.2	-	37	6825	c.6492G>T	c.(6490-6492)CAG>CAT	p.Q2164H		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2199	Spectrin 18.				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)		CCTCATGGGCCTGGACTTCAG	0.617												
PLA2G4D	283748	broad.mit.edu	37	15	42364557	42364557	+	Missense_Mutation	SNP	C	C	T	rs148579768		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:42364557C>T	uc001zox.2	-	14	1446	c.1351G>A	c.(1351-1353)GCC>ACC	p.A451T		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	451	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGTTCCAGGGCGGCTCTCTGT	0.582												
ZFP106	64397	broad.mit.edu	37	15	42743622	42743622	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:42743622G>A	uc001zpw.2	-	2	1114	c.779C>T	c.(778-780)ACT>ATT	p.T260I	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.T43I|ZFP106_uc001zpy.1_Missense_Mutation_p.T283I	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	260						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		CCATAGCATAGTCATGTCTTC	0.383												
LCMT2	9836	broad.mit.edu	37	15	43621423	43621423	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:43621423A>G	uc001zrg.2	-	1	1469	c.1265T>C	c.(1264-1266)ATG>ACG	p.M422T	LCMT2_uc010udn.1_Missense_Mutation_p.M1T|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	422					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GAGTCTTGTCATGGTGTGATA	0.498												
FRMD5	84978	broad.mit.edu	37	15	44166387	44166387	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:44166387G>A	uc001ztl.2	-	14	1586	c.1409C>T	c.(1408-1410)ACA>ATA	p.T470I	FRMD5_uc001ztj.1_Missense_Mutation_p.T143I|FRMD5_uc001ztk.1_Missense_Mutation_p.T376I|FRMD5_uc010uef.1_Missense_Mutation_p.T143I|FRMD5_uc001ztm.2_Missense_Mutation_p.T143I|FRMD5_uc001ztn.2_Missense_Mutation_p.T236I	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5 isoform 2	470						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CTCCACCTCTGTAGCAGTTGG	0.587												
SPG11	80208	broad.mit.edu	37	15	44944338	44944338	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:44944338G>T	uc001ztx.2	-	5	1027	c.996C>A	c.(994-996)TTC>TTA	p.F332L	SPG11_uc010ueh.1_Missense_Mutation_p.F332L|SPG11_uc010uei.1_Missense_Mutation_p.F332L|SPG11_uc001zua.1_Missense_Mutation_p.F332L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	332	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TATCAATTTGGAAGGAAAACT	0.353												
SLC12A1	6557	broad.mit.edu	37	15	48499975	48499975	+	Missense_Mutation	SNP	G	G	A	rs34661166	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:48499975G>A	uc001zwn.3	+	2	275	c.59G>A	c.(58-60)CGC>CAC	p.R20H	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.R20H|SLC12A1_uc010uex.1_Missense_Mutation_p.R20H	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	20	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AATACCAATCGCTTTCAAGTT	0.393												
FBN1	2200	broad.mit.edu	37	15	48797314	48797314	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:48797314C>T	uc001zwx.1	-	16	2196	c.1868G>A	c.(1867-1869)TGC>TAC	p.C623Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	623	EGF-like 10; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCCATTCATGCAGATCCCAGG	0.438												
CEP152	22995	broad.mit.edu	37	15	49033864	49033864	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:49033864C>T	uc001zwy.2	-	25	3893	c.3859G>A	c.(3859-3861)GCT>ACT	p.A1287T	CEP152_uc001zwz.2_Missense_Mutation_p.A1343T|CEP152_uc001zxa.1_Missense_Mutation_p.A1250T	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1287					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCCATTGTAGCAAGTTTGCTA	0.373												
SLC27A2	11001	broad.mit.edu	37	15	50494701	50494701	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:50494701A>G	uc001zxw.2	+	3	938	c.706A>G	c.(706-708)ATG>GTG	p.M236V	SLC27A2_uc010bes.2_Intron|SLC27A2_uc001zxx.2_Missense_Mutation_p.M1V	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	236	Lumenal (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AAAAGCAGCCATGATCACTCA	0.428												
TCF12	6938	broad.mit.edu	37	15	57574703	57574703	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:57574703C>T	uc002aec.2	+	19	2251	c.1967C>T	c.(1966-1968)GCC>GTC	p.A656V	TCF12_uc010ugm.1_Intron|TCF12_uc010ugn.1_Missense_Mutation_p.A676V|TCF12_uc002aea.2_Missense_Mutation_p.A680V|TCF12_uc010bfs.2_Missense_Mutation_p.A77V|TCF12_uc002aeb.2_Missense_Mutation_p.A680V|TCF12_uc002aed.2_Missense_Mutation_p.A656V|TCF12_uc002aee.2_Missense_Mutation_p.A486V|TCF12_uc010bft.2_Missense_Mutation_p.A510V|TCF12_uc010ugo.1_Missense_Mutation_p.A420V|TCF12_uc010ugp.1_Missense_Mutation_p.A313V|TCF12_uc010ugq.1_Missense_Mutation_p.A290V	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	656					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		AAAGTTTCTGCCGTATCGGCA	0.458			T	TEC	extraskeletal myxoid chondrosarcoma							
AQP9	366	broad.mit.edu	37	15	58465365	58465365	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:58465365G>T	uc002aez.2	+	3	694	c.337G>T	c.(337-339)GCC>TCC	p.A113S	ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.A48S	NM_020980	NP_066190	O43315	AQP9_HUMAN	aquaporin 9	113	Helical; (Potential).				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			ovary(1)	1				GBM - Glioblastoma multiforme(80;0.16)		GTTCTTGGGAGCCTTTGTGGG	0.463												
GCNT3	9245	broad.mit.edu	37	15	59911535	59911535	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:59911535G>A	uc002age.2	+	3	1547	c.1098G>A	c.(1096-1098)TGG>TGA	p.W366*	GCNT3_uc002agd.2_Nonsense_Mutation_p.W366*	NM_004751	NP_004742	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin	366	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2						TGGTCAAGTGGCAGGGTCATG	0.567												
TLN2	83660	broad.mit.edu	37	15	63047787	63047787	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:63047787C>T	uc002alb.3	+	34	4533	c.4533C>T	c.(4531-4533)TGC>TGT	p.C1511C	TLN2_uc002alc.3_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1511					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						GCAATGCCTGCCGCATCGCCT	0.577												
SNX1	6642	broad.mit.edu	37	15	64424071	64424071	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:64424071C>T	uc002amv.2	+	11	1237	c.1201C>T	c.(1201-1203)CGC>TGC	p.R401C	SNX1_uc010bgv.2_Missense_Mutation_p.R115C|SNX1_uc010uio.1_Missense_Mutation_p.R401C|SNX1_uc002amw.2_Missense_Mutation_p.R401C|SNX1_uc002amx.2_Missense_Mutation_p.R336C|SNX1_uc002amy.2_Missense_Mutation_p.R330C|SNX1_uc010bgw.2_Missense_Mutation_p.R303C	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a	401	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0						TGACTACATTCGCCTCCTGGC	0.498												
RASL12	51285	broad.mit.edu	37	15	65350892	65350892	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:65350892C>T	uc002aoi.1	-	4	513	c.298G>A	c.(298-300)GTC>ATC	p.V100I	RASL12_uc002aoj.1_Missense_Mutation_p.V81I|RASL12_uc010uir.1_Missense_Mutation_p.V89I	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	RAS-like, family 12 protein	100					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			skin(1)	1						CGGCTGTCGACGCTGTACACC	0.652												
KBTBD13	390594	broad.mit.edu	37	15	65369317	65369317	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:65369317C>T	uc010uis.1	+	1	164	c.164C>T	c.(163-165)GCG>GTG	p.A55V	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	hypothetical protein LOC390594	55	BTB.					cytoplasm					0						GTTCTGAGCGCGGGAGGTTTC	0.741												
KBTBD13	390594	broad.mit.edu	37	15	65370228	65370228	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:65370228G>A	uc010uis.1	+	1	1075	c.1075G>A	c.(1075-1077)GGA>AGA	p.G359R	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	hypothetical protein LOC390594	359	Kelch 5.					cytoplasm					0						GGTGCGCAACGGACCTTCCGA	0.682												
PTPLAD1	51495	broad.mit.edu	37	15	65856652	65856652	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:65856652C>T	uc002apc.2	+	7	780	c.632C>T	c.(631-633)ACG>ATG	p.T211M	PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Missense_Mutation_p.T156M	NM_016395	NP_057479	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain	211	Cytoplasmic (Potential).				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding				0						GGAGTCACTACGTCACCGGTG	0.433												
SLC24A1	9187	broad.mit.edu	37	15	65918027	65918027	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:65918027C>A	uc010ujf.1	+	2	1896	c.1609C>A	c.(1609-1611)CTC>ATC	p.L537I	SLC24A1_uc010ujd.1_Missense_Mutation_p.L537I|SLC24A1_uc010uje.1_Missense_Mutation_p.L537I|SLC24A1_uc010ujg.1_Missense_Mutation_p.L537I|SLC24A1_uc010ujh.1_Missense_Mutation_p.L537I	NM_004727	NP_004718	O60721	NCKX1_HUMAN	solute carrier family 24	537	Helical; (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						GTTCAACATTCTCTTTGTCAT	0.517												
DENND4A	10260	broad.mit.edu	37	15	65983682	65983682	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:65983682T>G	uc002aph.2	-	22	3496	c.3118A>C	c.(3118-3120)ATG>CTG	p.M1040L	DENND4A_uc002api.2_Missense_Mutation_p.M1083L|DENND4A_uc002apj.3_Missense_Mutation_p.M1040L	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1040					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						ATAAATCCCATCAGTACCCCT	0.378												
DENND4A	10260	broad.mit.edu	37	15	65993442	65993442	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:65993442T>C	uc002aph.2	-	19	3026	c.2648A>G	c.(2647-2649)CAG>CGG	p.Q883R	DENND4A_uc002api.2_Missense_Mutation_p.Q883R|DENND4A_uc002apj.3_Missense_Mutation_p.Q883R	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						TCTTTTGAACTGTGTTACTCC	0.348												
DIS3L	115752	broad.mit.edu	37	15	66587407	66587407	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:66587407A>G	uc010ujm.1	+	2	236	c.221A>G	c.(220-222)GAG>GGG	p.E74G	DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_5'UTR|DIS3L_uc002apq.2_Missense_Mutation_p.E74G|DIS3L_uc010bho.2_5'UTR	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	74					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2						GAGATCCTTGAGTTTCCTGAG	0.383												
RPL4	6124	broad.mit.edu	37	15	66795088	66795088	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:66795088T>C	uc002apv.2	-	4	339	c.283A>G	c.(283-285)ATG>GTG	p.M95V	RPL4_uc010bhr.2_Missense_Mutation_p.M1V|RPL4_uc002apw.2_Missense_Mutation_p.M1V|RPL4_uc002apx.2_Missense_Mutation_p.M1V|RPL4_uc010ujq.1_Missense_Mutation_p.M95V|SNORD18C_uc010bhs.1_5'Flank|SNORD18B_uc002apy.1_5'Flank|ZWILCH_uc010bhu.1_5'Flank|ZWILCH_uc002aqb.2_5'Flank|ZWILCH_uc002aqa.2_5'Flank|ZWILCH_uc010bhv.2_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	ribosomal protein L4	95					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						CCACGACACATCTATTTTTCC	0.423												
CLN6	54982	broad.mit.edu	37	15	68500514	68500514	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:68500514C>A	uc002arf.2	-	7	1058	c.900G>T	c.(898-900)TGG>TGT	p.W300C	CALML4_uc002arb.2_5'Flank|CALML4_uc002arc.2_5'Flank|CALML4_uc002ard.2_5'Flank|CALML4_uc002are.2_5'Flank|CALML4_uc010bhz.2_5'Flank|CLN6_uc010ujy.1_Missense_Mutation_p.W171C|CLN6_uc010ujz.1_Missense_Mutation_p.W332C	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	CLN6 protein	300			W -> R (in CLN6).		cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity				0						TGTAGAAAGCCCAGGGCTCAG	0.617												
ITGA11	22801	broad.mit.edu	37	15	68599709	68599709	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:68599709G>A	uc002ari.2	-	28	3445	c.3358C>T	c.(3358-3360)CGT>TGT	p.R1120C	ITGA11_uc010bib.2_Missense_Mutation_p.R1121C	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	1120	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	TCCTCCTCACGGAAGATGAAG	0.577											OREG0023219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UACA	55075	broad.mit.edu	37	15	70976697	70976697	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:70976697C>T	uc002asr.2	-	8	795	c.691G>A	c.(691-693)GCG>ACG	p.A231T	UACA_uc010uke.1_Intron|UACA_uc002asq.2_Missense_Mutation_p.A218T|UACA_uc010bin.1_Missense_Mutation_p.A217T	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	231						cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						TGGCCAAGCGCATCCAGCAAG	0.403												
ADPGK	83440	broad.mit.edu	37	15	73048721	73048721	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:73048721G>A	uc002avg.3	-	5	805	c.711C>T	c.(709-711)AAC>AAT	p.N237N	ADPGK_uc002ave.3_Translation_Start_Site|ADPGK_uc010ukw.1_Silent_p.N179N|ADPGK_uc002avf.3_Silent_p.N237N|ADPGK_uc002avi.3_Silent_p.N115N|ADPGK_uc002avh.3_Translation_Start_Site	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	237	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding				0						TCATGGCCCCGTTGGAGAGGT	0.527												
NPTN	27020	broad.mit.edu	37	15	73884433	73884433	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:73884433G>T	uc002avs.2	-	3	682	c.485C>A	c.(484-486)CCT>CAT	p.P162H	NPTN_uc010bjc.2_Missense_Mutation_p.P162H|NPTN_uc002avt.2_Missense_Mutation_p.P46H|NPTN_uc002avr.2_Missense_Mutation_p.P46H|NPTN_uc010ula.1_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	162	Ig-like 2.|Extracellular (Potential).				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding				0						AGGGAGAACAGGGCTGTCTCG	0.512												
CD276	80381	broad.mit.edu	37	15	73996289	73996289	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:73996289C>T	uc002avv.1	+	5	1257	c.1023C>T	c.(1021-1023)TTC>TTT	p.F341F	CD276_uc010bjd.1_Silent_p.F195F|CD276_uc002avu.1_Silent_p.F341F|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Silent_p.F287F|CD276_uc002avx.2_5'Flank	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	CD276 antigen isoform a	341	Ig-like V-type 2.|Extracellular (Potential).				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			skin(1)	1						TCACCTGCTTCGTGAGCATCC	0.672												
ISLR2	57611	broad.mit.edu	37	15	74426790	74426790	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:74426790C>A	uc002axd.2	+	4	2464	c.1695C>A	c.(1693-1695)TCC>TCA	p.S565S	ISLR2_uc002axe.2_Silent_p.S565S|ISLR2_uc010bjg.2_Silent_p.S565S|ISLR2_uc010bjf.2_Silent_p.S565S	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	565	Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CCAACTACTCCGTGTGCCTGG	0.657												
ISLR	3671	broad.mit.edu	37	15	74467758	74467758	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:74467758G>A	uc002axg.1	+	2	841	c.559G>A	c.(559-561)GGC>AGC	p.G187S	ISLR_uc002axh.1_Missense_Mutation_p.G187S	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	187	LRRCT.				cell adhesion	extracellular region				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						CTGCACCTGCGGCATCGTGTG	0.637												
CLK3	1198	broad.mit.edu	37	15	74921020	74921020	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:74921020A>G	uc010uln.1	+	11	2106	c.1645A>G	c.(1645-1647)ACC>GCC	p.T549A	CLK3_uc002ayg.3_Missense_Mutation_p.T401A|CLK3_uc002ayh.3_Missense_Mutation_p.T180A|CLK3_uc002ayj.3_Missense_Mutation_p.T378A|CLK3_uc002ayk.3_Missense_Mutation_p.T328A|CLK3_uc002ayl.3_Missense_Mutation_p.T234A	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	549	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						GATCCACCGTACCAGGTAAGG	0.547												
LMAN1L	79748	broad.mit.edu	37	15	75117939	75117939	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:75117939C>T	uc002ayt.1	+	14	1576	c.1574C>T	c.(1573-1575)CCT>CTT	p.P525L	LMAN1L_uc010bke.1_Missense_Mutation_p.P513L|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	525	Cytoplasmic (Potential).					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						GCCAGCATGCCTGCCTGACCC	0.642												
RPP25	54913	broad.mit.edu	37	15	75248399	75248399	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:75248399G>T	uc002azj.1	-	1	1377	c.526C>A	c.(526-528)CCC>ACC	p.P176T		NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN	ribonuclease P 25kDa subunit	176					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding				0						CCAGCTGCGGGTTCCCCTAGG	0.692												
MAN2C1	4123	broad.mit.edu	37	15	75650805	75650805	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:75650805C>T	uc002baf.2	-	20	2418	c.2401G>A	c.(2401-2403)GAG>AAG	p.E801K	MAN2C1_uc002bag.2_Missense_Mutation_p.E801K|MAN2C1_uc002bah.2_Missense_Mutation_p.E818K|MAN2C1_uc010bkk.2_Missense_Mutation_p.E702K	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	801					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0						CCGACTACCTCGGTGTGGAAG	0.627												
CSPG4	1464	broad.mit.edu	37	15	75968881	75968881	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:75968881G>A	uc002baw.2	-	10	6072	c.5979C>T	c.(5977-5979)GGC>GGT	p.G1993G		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1993	Extracellular (Potential).|CSPG 14.|Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						TGGGCCGCCCGCCCACCAGGA	0.617												
SH2D7	646892	broad.mit.edu	37	15	78384986	78384986	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:78384986C>T	uc010blb.1	+	1	60	c.60C>T	c.(58-60)AGC>AGT	p.S20S		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	20											0						CAGGGGACAGCCAGGCCCTGG	0.627												
SH2D7	646892	broad.mit.edu	37	15	78390335	78390335	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:78390335G>A	uc010blb.1	+	3	331	c.331G>A	c.(331-333)GGA>AGA	p.G111R		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	111	SH2.										0						CATCATCTCAGGAGACACCCA	0.582												
RASGRF1	5923	broad.mit.edu	37	15	79323808	79323808	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:79323808G>A	uc002beq.2	-	8	1571	c.1196C>T	c.(1195-1197)ACG>ATG	p.T399M	RASGRF1_uc002bep.2_Missense_Mutation_p.T399M|RASGRF1_uc010blm.1_Missense_Mutation_p.T321M|RASGRF1_uc002ber.3_Missense_Mutation_p.T399M	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	399	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						CTCATGAGGCGTGTGGGCCAG	0.627												
KIAA1024	23251	broad.mit.edu	37	15	79755409	79755409	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:79755409G>A	uc002bew.1	+	3	2374	c.2299G>A	c.(2299-2301)GCA>ACA	p.A767T	KIAA1024_uc010unk.1_Missense_Mutation_p.A767T	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	767						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						CCCTCTGCAGGCAGACAGGCA	0.567												
MTHFS	10588	broad.mit.edu	37	15	80181594	80181594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:80181594G>A	uc002bex.3	-	2	260	c.220C>T	c.(220-222)CGA>TGA	p.R74*		NM_006441	NP_006432	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase	74					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding				0				all cancers(203;0.00467)		ATTTTGCCTCGTTGGAAAATG	0.413												
KIAA1199	57214	broad.mit.edu	37	15	81181894	81181894	+	Silent	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:81181894T>G	uc002bfw.1	+	9	1307	c.1047T>G	c.(1045-1047)GCT>GCG	p.A349A	KIAA1199_uc010unn.1_Silent_p.A349A	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	349										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						TCTGGAAAGCTCACCCAGGAA	0.403												
MESDC1	59274	broad.mit.edu	37	15	81295628	81295628	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:81295628T>C	uc002bfz.2	+	1	2334	c.1016T>C	c.(1015-1017)CTG>CCG	p.L339P		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	339											0						GGCTGCACCCTGCTATCTCAG	0.602												
IL16	3603	broad.mit.edu	37	15	81572089	81572089	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:81572089T>C	uc002bgh.3	+	8	1431	c.1055T>C	c.(1054-1056)ATC>ACC	p.I352T	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.I352T|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.I394T|IL16_uc002bgg.2_Missense_Mutation_p.I352T|IL16_uc002bgi.1_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	352	Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						AATTACAGAATCATGGTGGAG	0.587												
EFTUD1	79631	broad.mit.edu	37	15	82443856	82443856	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:82443856A>G	uc002bgt.1	-	18	3108	c.2939T>C	c.(2938-2940)CTG>CCG	p.L980P	EFTUD1_uc002bgs.1_Missense_Mutation_p.L351P|EFTUD1_uc002bgu.1_Missense_Mutation_p.L929P	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	980					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						AGCTGCCATCAGGCGCTGAGG	0.463												
CPEB1	64506	broad.mit.edu	37	15	83218385	83218385	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:83218385T>G	uc002bit.2	-	9	1556	c.1419A>C	c.(1417-1419)TTA>TTC	p.L473F	CPEB1_uc002biq.2_Missense_Mutation_p.L333F|CPEB1_uc002bir.2_Missense_Mutation_p.L338F|CPEB1_uc002bis.2_Missense_Mutation_p.L333F|CPEB1_uc010uod.1_Missense_Mutation_p.L182F|CPEB1_uc010uoe.1_Missense_Mutation_p.L411F|CPEB1_uc002biu.2_Missense_Mutation_p.L435F|CPEB1_uc010uof.1_Missense_Mutation_p.L333F|CPEB1_uc002biv.2_Missense_Mutation_p.L408F|CPEB1_uc002bip.2_Missense_Mutation_p.L182F	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	413	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)			TACTGTCGGCTAATACCCAGG	0.572												
ADAMTSL3	57188	broad.mit.edu	37	15	84700152	84700152	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:84700152C>T	uc002bjz.3	+	28	4946	c.4722C>T	c.(4720-4722)AAC>AAT	p.N1574N	ADAMTSL3_uc010bmu.1_Silent_p.N1574N	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1574						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTCAACACAACAGCTCTGACT	0.522												
ALPK3	57538	broad.mit.edu	37	15	85383099	85383099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:85383099G>T	uc002ble.2	+	5	1362	c.1195G>T	c.(1195-1197)GAG>TAG	p.E399*		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	399					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCGCGAGATCGAGCAGAGCTG	0.642												
ALPK3	57538	broad.mit.edu	37	15	85407851	85407851	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:85407851C>T	uc002ble.2	+	12	5451	c.5284C>T	c.(5284-5286)CTG>TTG	p.L1762L	ALPK3_uc010upc.1_Silent_p.L63L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1762	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCAACACTGGCTGTATCAGTG	0.557												
SLC28A1	9154	broad.mit.edu	37	15	85438268	85438268	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:85438268C>T	uc002blg.2	+	6	577	c.375C>T	c.(373-375)CAC>CAT	p.H125H	SLC28A1_uc010upd.1_Silent_p.H47H|SLC28A1_uc010bnb.2_Silent_p.H125H|SLC28A1_uc010upe.1_Silent_p.H125H|SLC28A1_uc010upf.1_Silent_p.H125H|SLC28A1_uc010upg.1_Silent_p.H125H|SLC28A1_uc002blf.2_Silent_p.H125H	NM_004213	NP_004204	O00337	S28A1_HUMAN	solute carrier family 28, member 1 isoform 1	125	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCTGGGCCACCGCCTGCTGA	0.617												
AKAP13	11214	broad.mit.edu	37	15	86262364	86262364	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:86262364A>G	uc002blv.1	+	23	6229	c.6059A>G	c.(6058-6060)TAC>TGC	p.Y2020C	AKAP13_uc002blu.1_Missense_Mutation_p.Y2024C|AKAP13_uc010bnf.1_Missense_Mutation_p.Y641C|AKAP13_uc002blw.1_Missense_Mutation_p.Y485C|AKAP13_uc002blx.1_Missense_Mutation_p.Y265C	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2020	Interaction with ESR1.|DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AGTGGTGTGTACAGCCAGGGG	0.448												
NTRK3	4916	broad.mit.edu	37	15	88576217	88576217	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:88576217G>T	uc002bme.1	-	13	1618	c.1456C>A	c.(1456-1458)CAC>AAC	p.H486N	NTRK3_uc002bmh.2_Missense_Mutation_p.H478N|NTRK3_uc002bmf.1_Missense_Mutation_p.H486N|NTRK3_uc010upl.1_Missense_Mutation_p.H388N|NTRK3_uc010bnh.1_Missense_Mutation_p.H478N|NTRK3_uc002bmg.2_Missense_Mutation_p.H486N|NTRK3_uc010bni.2_RNA	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	486	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGATGCCGTGGTTGATGTGG	0.602			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)		
ACAN	176	broad.mit.edu	37	15	89398379	89398379	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:89398379C>T	uc010upo.1	+	12	2937	c.2563C>T	c.(2563-2565)CCC>TCC	p.P855S	ACAN_uc010upp.1_Missense_Mutation_p.P855S|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	855					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACTGAGCTGCCCAGCTCTGG	0.607												
FANCI	55215	broad.mit.edu	37	15	89858575	89858575	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:89858575C>T	uc010bnp.1	+	37	3969	c.3879C>T	c.(3877-3879)ATC>ATT	p.I1293I	FANCI_uc002bnm.1_Silent_p.I1233I|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.I1053I|FANCI_uc002bnq.1_Silent_p.I706I	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	1293					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					AAGGAAACATCCTAGACATGG	0.493								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
C15orf42	90381	broad.mit.edu	37	15	90137717	90137717	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:90137717C>T	uc002boe.2	+	6	1613	c.1613C>T	c.(1612-1614)GCC>GTC	p.A538V		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	538					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CATTGCCTTGCCGAGCTCTAC	0.408												
C15orf42	90381	broad.mit.edu	37	15	90167738	90167738	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:90167738G>A	uc002boe.2	+	20	4197	c.4197G>A	c.(4195-4197)CAG>CAA	p.Q1399Q	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1399					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGGAGTGTCAGCCTGATGCCT	0.572												
KIF7	374654	broad.mit.edu	37	15	90177089	90177089	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:90177089G>A	uc002bof.2	-	12	2497	c.2420C>T	c.(2419-2421)ACG>ATG	p.T807M	KIF7_uc010upw.1_Missense_Mutation_p.T293M	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	807	Potential.				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CAGCCGCTCCGTAGCCTGCTT	0.632												
ANPEP	290	broad.mit.edu	37	15	90348617	90348617	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:90348617G>A	uc002bop.3	-	3	984	c.692C>T	c.(691-693)GCC>GTC	p.A231V		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	231	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GTTGAACTCGGCCTTCATGGC	0.612												
FES	2242	broad.mit.edu	37	15	91436921	91436921	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:91436921A>C	uc002bpv.2	+	17	2179	c.2083A>C	c.(2083-2085)AAT>CAT	p.N695H	FES_uc010uqj.1_Missense_Mutation_p.N567H|FES_uc010uqk.1_Missense_Mutation_p.N677H|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.N554H|FES_uc002bpx.2_Missense_Mutation_p.N625H|FES_uc002bpy.2_Missense_Mutation_p.N637H	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	695	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GACAGAGAAGAATGTCCTGAA	0.612												
PRC1	9055	broad.mit.edu	37	15	91517829	91517829	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:91517829C>T	uc002bqm.2	-	10	1493	c.1336G>A	c.(1336-1338)GCC>ACC	p.A446T	PRC1_uc002bqn.2_Missense_Mutation_p.A446T|PRC1_uc002bqo.2_Missense_Mutation_p.A446T|PRC1_uc010uqs.1_Missense_Mutation_p.A405T	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	446	Potential.|Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCCTGCTTGGCTCTCTCTTTC	0.468												
VPS33B	26276	broad.mit.edu	37	15	91543776	91543776	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:91543776T>G	uc002bqp.1	-	20	1879	c.1525A>C	c.(1525-1527)ATG>CTG	p.M509L	VPS33B_uc002bqq.1_Missense_Mutation_p.M418L|VPS33B_uc010uqu.1_Missense_Mutation_p.M482L	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33B (yeast homolog))	509					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			ovary(2)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)					ACGTAAGCCATGTCTCGGGGC	0.498												
MEF2A	4205	broad.mit.edu	37	15	100214625	100214625	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:100214625A>T	uc010urw.1	+	5	783	c.424A>T	c.(424-426)ATG>TTG	p.M142L	MEF2A_uc010urv.1_Missense_Mutation_p.M72L|MEF2A_uc010bos.2_Missense_Mutation_p.M140L|MEF2A_uc002bvf.2_Missense_Mutation_p.M142L|MEF2A_uc002bve.2_Missense_Mutation_p.M140L|MEF2A_uc002bvg.2_Missense_Mutation_p.M140L|MEF2A_uc002bvi.2_Missense_Mutation_p.M140L|MEF2A_uc010bot.2_Missense_Mutation_p.M72L	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A isoform 1	142	Ser/Thr-rich.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			ovary(1)	1	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GAACTTTTCAATGTCTGTCAC	0.428												
ADAMTS17	170691	broad.mit.edu	37	15	100649211	100649211	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:100649211C>T	uc002bvv.1	-	14	2078	c.1999G>A	c.(1999-2001)GTG>ATG	p.V667M	ADAMTS17_uc002bvx.1_Missense_Mutation_p.V424M	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	667	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TTGCCGTGCACGCAGAGATCA	0.627												
TMEM8A	58986	broad.mit.edu	37	16	425374	425374	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:425374C>T	uc002cgu.3	-	7	1415	c.1286G>A	c.(1285-1287)GGC>GAC	p.G429D	TMEM8A_uc002cgv.3_Missense_Mutation_p.G236D	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	429	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						AGTATTGAAGCCAAGGAAGGG	0.667												
NME4	4833	broad.mit.edu	37	16	449051	449051	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:449051G>A	uc002cgz.2	+	2	184	c.153G>A	c.(151-153)CGG>CGA	p.R51R	NME4_uc002cgy.2_5'UTR|NME4_uc002cha.2_RNA|DECR2_uc002chb.2_5'Flank|DECR2_uc002chc.2_5'Flank|DECR2_uc010bqv.2_5'Flank|DECR2_uc002chd.2_5'Flank	NM_005009	NP_005000	O00746	NDKM_HUMAN	nucleoside diphosphate kinase 4 precursor	51					CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity				0		Hepatocellular(16;0.00015)				GCGTGCAACGGCGGCTCGTTG	0.652												
PIGQ	9091	broad.mit.edu	37	16	624400	624400	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:624400C>T	uc002cho.2	+	2	428	c.326C>T	c.(325-327)GCC>GTC	p.A109V	PIGQ_uc010bqw.2_Missense_Mutation_p.A109V|PIGQ_uc002chm.2_Missense_Mutation_p.A109V|PIGQ_uc002chn.2_Missense_Mutation_p.A109V|PIGQ_uc010uui.1_Missense_Mutation_p.A123V	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	109					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)				AGCTGCGAGGCCACCCACCGG	0.672												
CCDC78	124093	broad.mit.edu	37	16	774503	774503	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:774503C>T	uc002cjg.2	-	9	878	c.772G>A	c.(772-774)GCA>ACA	p.A258T	CCDC78_uc002cjf.2_Missense_Mutation_p.A107T|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR|CCDC78_uc002cjh.2_Missense_Mutation_p.A17T|CCDC78_uc010uuo.1_3'UTR|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	258										central_nervous_system(1)	1		Hepatocellular(780;0.0218)				GCACCATCTGCGTGCTCCTGG	0.711												
NARFL	64428	broad.mit.edu	37	16	780637	780637	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:780637C>T	uc002cjr.2	-	11	1223	c.1211G>A	c.(1210-1212)GGC>GAC	p.G404D	NARFL_uc002cjp.2_Missense_Mutation_p.G302D|NARFL_uc002cjq.2_Missense_Mutation_p.G302D|NARFL_uc002cjs.2_Missense_Mutation_p.G186D	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	404					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)				CTGGAGCTGGCCCCCGCCGTT	0.701												
CACNA1H	8912	broad.mit.edu	37	16	1250471	1250471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1250471G>A	uc002cks.2	+	7	1267	c.1019G>A	c.(1018-1020)TGG>TAG	p.W340*	CACNA1H_uc002ckt.2_Nonsense_Mutation_p.W340*	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	340	Extracellular (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)	TGCATCAACTGGAACCAGTAC	0.657												
TPSG1	25823	broad.mit.edu	37	16	1273479	1273479	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1273479G>A	uc002ckw.2	-	3	191	c.189C>T	c.(187-189)TGC>TGT	p.C63C		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	transmembrane tryptase preproprotein	63	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				GTGACCCGCCGCACACGTGCA	0.716												
BAIAP3	8938	broad.mit.edu	37	16	1392602	1392602	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1392602C>T	uc002clk.1	+	12	1137	c.1137C>T	c.(1135-1137)CAC>CAT	p.H379H	BAIAP3_uc002clj.2_Silent_p.H361H|BAIAP3_uc010uuz.1_Silent_p.H344H|BAIAP3_uc010uva.1_Silent_p.H316H|BAIAP3_uc010uvc.1_Intron	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	379					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				TGCAGGGACACTGCCACCTGG	0.682												
BAIAP3	8938	broad.mit.edu	37	16	1395287	1395287	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1395287C>A	uc002clk.1	+	22	2083	c.2083C>A	c.(2083-2085)CCC>ACC	p.P695T	BAIAP3_uc002clj.2_Missense_Mutation_p.P677T|BAIAP3_uc010uuz.1_Missense_Mutation_p.P660T|BAIAP3_uc010uva.1_Missense_Mutation_p.P632T|BAIAP3_uc010uvc.1_Missense_Mutation_p.P624T	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	695	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				CATCCACGCCCCCTTCCTGCC	0.642												
CLCN7	1186	broad.mit.edu	37	16	1498368	1498368	+	Silent	SNP	G	G	A	rs147848788		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1498368G>A	uc002clv.2	-	21	2111	c.2001C>T	c.(1999-2001)GCC>GCT	p.A667A	CLCN7_uc010brq.1_Silent_p.A37A|CLCN7_uc002clu.2_Silent_p.A115A|CLCN7_uc002clw.2_Silent_p.A643A	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	667	Cytoplasmic (By similarity).|CBS 1.					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)				GGGTGTCATCGGCATGCTCCA	0.617												
PTX4	390667	broad.mit.edu	37	16	1536392	1536392	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1536392C>A	uc010uvf.1	-	3	970	c.970G>T	c.(970-972)GGC>TGC	p.G324C		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	329	Pentaxin.					extracellular region	metal ion binding				0						GAGTCTCGGCCGTGCAGCACC	0.677												
EME2	197342	broad.mit.edu	37	16	1826089	1826089	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1826089G>T	uc002cmq.1	+	8	1185	c.1185G>T	c.(1183-1185)ACG>ACT	p.T395T	MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Silent_p.T330T	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	essential meiotic endonuclease 1 homolog 2	344					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			lung(1)|central_nervous_system(1)|pancreas(1)	3						CCTGCAGCACGGAGCGGGAGC	0.726								Direct_reversal_of_damage|Homologous_recombination				
NUBP2	10101	broad.mit.edu	37	16	1836584	1836584	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:1836584A>G	uc002cmw.3	+	2	152	c.63A>G	c.(61-63)TCA>TCG	p.S21S	NUBP2_uc002cmx.3_5'UTR|NUBP2_uc010brx.2_5'UTR	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2 (MinD homolog, E.	21						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding				0						TGGTCCTCTCAGGAAAGGGGG	0.647												
TBL3	10607	broad.mit.edu	37	16	2024398	2024398	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2024398G>T	uc002cnu.1	+	4	313	c.211G>T	c.(211-213)GCC>TCC	p.A71S	TBL3_uc002cnv.1_5'UTR|TBL3_uc010bsb.1_5'Flank|TBL3_uc010bsc.1_5'Flank|TBL3_uc010uvt.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	71	WD 1.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						GGACATCACTGCCTTTGACCT	0.647												
TSC2	7249	broad.mit.edu	37	16	2127694	2127694	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2127694G>A	uc002con.2	+	26	3039	c.2933G>A	c.(2932-2934)CGC>CAC	p.R978H	TSC2_uc010bsd.2_Missense_Mutation_p.R978H|TSC2_uc002coo.2_Intron|TSC2_uc010uvv.1_Intron|TSC2_uc010uvw.1_Intron|TSC2_uc002cop.2_Intron	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	978					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				TTCCGGTGCCGCAGCATCAGT	0.607			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
PKD1	5310	broad.mit.edu	37	16	2155908	2155908	+	Silent	SNP	G	G	A	rs78726010		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2155908G>A	uc002cos.1	-	20	8030	c.7821C>T	c.(7819-7821)CAC>CAT	p.H2607H	PKD1_uc002cot.1_Silent_p.H2607H|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2607	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ACTCGATGACGTGCTGGGGAT	0.657												
PKD1	5310	broad.mit.edu	37	16	2164302	2164302	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2164302C>T	uc002cos.1	-	11	2931	c.2722G>A	c.(2722-2724)GTG>ATG	p.V908M	PKD1_uc002cot.1_Missense_Mutation_p.V908M	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	908	Extracellular (Potential).|PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ACGTCCACCACGTGCTCCCCC	0.697												
ABCA3	21	broad.mit.edu	37	16	2349473	2349473	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2349473C>T	uc002cpy.1	-	14	2384	c.1672G>A	c.(1672-1674)GAG>AAG	p.E558K	ABCA3_uc010bsk.1_Missense_Mutation_p.E500K|ABCA3_uc010bsl.1_Missense_Mutation_p.E558K	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	558	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				ATCTGTCCCTCGTACAGGTTG	0.647												
CCNF	899	broad.mit.edu	37	16	2503500	2503500	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2503500C>T	uc002cqd.1	+	15	1765	c.1677C>T	c.(1675-1677)CAC>CAT	p.H559H	CCNF_uc002cqe.1_Silent_p.H251H	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	559					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				GGGAGATCCACGCCTTCCTCA	0.607												
AMDHD2	51005	broad.mit.edu	37	16	2578060	2578060	+	Splice_Site	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2578060G>T	uc002cqq.2	+	6	726	c.629_splice	c.e6-1	p.G210_splice	AMDHD2_uc002cqp.2_Splice_Site_p.G210_splice|AMDHD2_uc010uwc.1_Splice_Site_p.G210_splice|AMDHD2_uc010uwd.1_Splice_Site	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1						N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						AGGTCCCGCAGGGCACTCAGT	0.662												
FLYWCH1	84256	broad.mit.edu	37	16	2988286	2988286	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2988286G>C	uc002csd.2	+	8	2242	c.1879G>C	c.(1879-1881)GTG>CTG	p.V627L	FLYWCH1_uc002csb.2_Missense_Mutation_p.V626L|FLYWCH1_uc002csc.2_Missense_Mutation_p.V626L|FLYWCH1_uc010bsv.2_Missense_Mutation_p.V351L|FLYWCH1_uc002cse.2_Missense_Mutation_p.V82L	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1 isoform a	627	FLYWCH-type 5.					nucleus	DNA binding|metal ion binding				0						TGGGGAGAAGGTGTACTGGAT	0.662												
CLDN9	9080	broad.mit.edu	37	16	3063378	3063378	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3063378C>A	uc010uwo.1	+	1	922	c.15C>A	c.(13-15)GGC>GGA	p.G5G		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	5	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CTTCGACCGGCTTAGAACTGC	0.647												
CLDN9	9080	broad.mit.edu	37	16	3063462	3063462	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3063462C>T	uc010uwo.1	+	1	1006	c.99C>T	c.(97-99)ACC>ACT	p.T33T		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	33	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GGAAGGTGACCGCCTTCATCG	0.652												
TIGD7	91151	broad.mit.edu	37	16	3350247	3350247	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3350247G>A	uc002cus.2	-	1	1154	c.368C>T	c.(367-369)ACT>ATT	p.T123I	ZNF263_uc002cur.2_3'UTR|TIGD7_uc010btj.1_RNA	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	123	HTH CENPB-type.|H-T-H motif (By similarity).				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						AAGCCAACCAGTGCTAGCTTT	0.478												
ZNF597	146434	broad.mit.edu	37	16	3493136	3493136	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3493136C>T	uc002cvd.2	-	2	202	c.18G>A	c.(16-18)CCG>CCA	p.P6P	NAT15_uc002cvh.3_5'Flank|NAT15_uc010uxb.1_5'Flank	NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	zinc finger protein 597	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCTCGGGCGTCGGGGGCATGG	0.582												
BTBD12	84464	broad.mit.edu	37	16	3656674	3656674	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3656674C>A	uc002cvp.2	-	3	1188	c.561G>T	c.(559-561)CAG>CAT	p.Q187H	BTBD12_uc002cvq.1_Missense_Mutation_p.Q187H	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	187	Interaction with C20orf94, ERCC4 and MSH2.				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						AAGGAGGAGGCTGGGAGTCGC	0.493								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
TRAP1	10131	broad.mit.edu	37	16	3726065	3726065	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3726065C>A	uc002cvt.3	-	7	875	c.786G>T	c.(784-786)AAG>AAT	p.K262N	TRAP1_uc002cvs.2_Missense_Mutation_p.K53N|TRAP1_uc010uxf.1_Missense_Mutation_p.K209N	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	262					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				TGGAAAACTCCTTGCAGTCGG	0.582												
CREBBP	1387	broad.mit.edu	37	16	3795299	3795299	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3795299T>C	uc002cvv.2	-	22	4097	c.3893A>G	c.(3892-3894)TAT>TGT	p.Y1298C	CREBBP_uc002cvw.2_Missense_Mutation_p.Y1260C	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1298	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			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)		AATGATGTCATAGTGCAGAAC	0.537			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
CREBBP	1387	broad.mit.edu	37	16	3799628	3799628	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3799628G>A	uc002cvv.2	-	21	4040	c.3836C>T	c.(3835-3837)CCT>CTT	p.P1279L	CREBBP_uc002cvw.2_Missense_Mutation_p.P1241L	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1279	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			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)		ATATACTTACGGTTCGGGGTC	0.294			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
CREBBP	1387	broad.mit.edu	37	16	3820945	3820945	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3820945G>T	uc002cvv.2	-	14	2710	c.2506C>A	c.(2506-2508)CTG>ATG	p.L836M	CREBBP_uc002cvw.2_Missense_Mutation_p.L798M	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	836					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)		TGAGGCCCCAGCATGTTGAGA	0.547			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
CREBBP	1387	broad.mit.edu	37	16	3824574	3824574	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:3824574G>T	uc002cvv.2	-	12	2483	c.2279C>A	c.(2278-2280)CCA>CAA	p.P760Q	CREBBP_uc002cvw.2_Missense_Mutation_p.P722Q	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	760					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)		ACTTACCCCTGGCACTGAGCC	0.527			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	4027532	4027532	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:4027532C>T	uc002cvx.2	-	9	3318	c.2779G>A	c.(2779-2781)GTG>ATG	p.V927M		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	927	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CCGGCCCCCACGACGGTGGCG	0.672												
CORO7	79585	broad.mit.edu	37	16	4412678	4412678	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:4412678G>T	uc002cwh.3	-	15	1457	c.1337C>A	c.(1336-1338)CCC>CAC	p.P446H	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.P446H|CORO7_uc002cwg.3_Missense_Mutation_p.P226H|CORO7_uc010uxh.1_Missense_Mutation_p.P428H|CORO7_uc010uxi.1_Missense_Mutation_p.P361H|CORO7_uc002cwi.1_Missense_Mutation_p.P226H|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Missense_Mutation_p.P226H	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	446						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						GGAGAGTGAGGGCCCCAGGCT	0.677												
MGRN1	23295	broad.mit.edu	37	16	4731615	4731615	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:4731615G>A	uc002cwz.2	+	13	1332	c.1196G>A	c.(1195-1197)CGG>CAG	p.R399Q	MGRN1_uc002cxa.2_Missense_Mutation_p.R399Q|MGRN1_uc010btx.2_Missense_Mutation_p.R378Q|MGRN1_uc010btw.2_Missense_Mutation_p.R378Q|MGRN1_uc002cxb.2_Missense_Mutation_p.R438Q|MGRN1_uc010uxo.1_Missense_Mutation_p.R377Q|MGRN1_uc010uxp.1_Missense_Mutation_p.R377Q|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	399					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						AACGGCCTCCGGGCTGTCTCC	0.652												
SEC14L5	9717	broad.mit.edu	37	16	5064915	5064915	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:5064915G>A	uc002cye.2	+	16	2215	c.2035G>A	c.(2035-2037)GCC>ACC	p.A679T		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	679	Ser-rich.					integral to membrane|intracellular	transporter activity				0						GCTCAGCGCCGCCACCTCGTC	0.657												
USP7	7874	broad.mit.edu	37	16	8998333	8998333	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:8998333G>A	uc002czl.2	-	15	1862	c.1663C>T	c.(1663-1665)CGG>TGG	p.R555W	USP7_uc010uyk.1_Missense_Mutation_p.R456W|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.R456W|USP7_uc002czk.2_Missense_Mutation_p.R539W|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	555					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						CGCTCCTTCCGCTTCTGAGCC	0.557												
GRIN2A	2903	broad.mit.edu	37	16	9858573	9858573	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:9858573T>C	uc002czo.3	-	13	3376	c.2828A>G	c.(2827-2829)TAC>TGC	p.Y943C	GRIN2A_uc010uym.1_Missense_Mutation_p.Y943C|GRIN2A_uc010uyn.1_Missense_Mutation_p.Y786C|GRIN2A_uc002czr.3_Missense_Mutation_p.Y943C	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	943	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTGTCTGAGTACATCAAATT	0.448												
NUBP1	4682	broad.mit.edu	37	16	10850599	10850599	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:10850599C>A	uc002daa.1	+	6	436	c.413C>A	c.(412-414)CCT>CAT	p.P138H	NUBP1_uc010bum.1_Intron|NUBP1_uc002dab.1_Missense_Mutation_p.P127H	NM_002484	NP_002475	P53384	NUBP1_HUMAN	nucleotide binding protein 1	138					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			ovary(1)|skin(1)	2						CTCAGCAGTCCTGATGATGCT	0.522												
CIITA	4261	broad.mit.edu	37	16	11000930	11000930	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:11000930G>A	uc002dai.3	+	11	1714	c.1581G>A	c.(1579-1581)GGG>GGA	p.G527G	CIITA_uc002daj.3_Silent_p.G528G|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Silent_p.G527G|CIITA_uc002dah.2_Silent_p.G479G|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	527	NACHT.				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						CCCTCCGGGGGCTGCTGGCCG	0.687			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|							
CLEC16A	23274	broad.mit.edu	37	16	11214578	11214578	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:11214578G>A	uc002dao.2	+	20	2453	c.2223G>A	c.(2221-2223)GTG>GTA	p.V741V	CLEC16A_uc002dan.3_Silent_p.V723V	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	741										ovary(1)|central_nervous_system(1)	2						AGCCTGATGTGTCCAGGCTTG	0.498												
RSL1D1	26156	broad.mit.edu	37	16	11940598	11940598	+	Missense_Mutation	SNP	G	G	A	rs145073718		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:11940598G>A	uc002dbp.1	-	4	560	c.487C>T	c.(487-489)CGG>TGG	p.R163W	RSL1D1_uc010buv.1_Missense_Mutation_p.R163W|RSL1D1_uc010uyw.1_5'UTR|RSL1D1_uc010buw.2_RNA	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	163					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0						GGTAAGAGCCGCCTAATTCTG	0.408												
ERCC4	2072	broad.mit.edu	37	16	14020477	14020477	+	Missense_Mutation	SNP	C	C	T	rs145402255		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:14020477C>T	uc002dce.2	+	3	457	c.448C>T	c.(448-450)CGC>TGC	p.R150C	ERCC4_uc010bva.2_Missense_Mutation_p.R150C	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	150					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						ATTCATCTTGCGCCTCTTTCG	0.413			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
MYH11	4629	broad.mit.edu	37	16	15814019	15814019	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:15814019G>A	uc002ddy.2	-	34	5049	c.4942C>T	c.(4942-4944)CGC>TGC	p.R1648C	MYH11_uc002ddv.2_Missense_Mutation_p.R1655C|MYH11_uc002ddw.2_Missense_Mutation_p.R1648C|MYH11_uc002ddx.2_Missense_Mutation_p.R1655C|MYH11_uc010bvg.2_Missense_Mutation_p.R1480C|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.R354C|NDE1_uc002ddz.1_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1648	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						TGCAGTTTGCGTAGCTGCTTG	0.612			T	CBFB	AML							
MYH11	4629	broad.mit.edu	37	16	15818530	15818530	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:15818530G>A	uc002ddy.2	-	30	4197	c.4090C>T	c.(4090-4092)CGC>TGC	p.R1364C	MYH11_uc002ddv.2_Missense_Mutation_p.R1371C|MYH11_uc002ddw.2_Missense_Mutation_p.R1364C|MYH11_uc002ddx.2_Missense_Mutation_p.R1371C|MYH11_uc010bvg.2_Missense_Mutation_p.R1196C|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Missense_Mutation_p.R70C|NDE1_uc002ddz.1_RNA	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1364	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						GAGATGTGGCGCTCCAGGTTC	0.602			T	CBFB	AML							
ABCC1	4363	broad.mit.edu	37	16	16208889	16208889	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:16208889G>A	uc010bvi.2	+	23	3521	c.3346G>A	c.(3346-3348)GCC>ACC	p.A1116T	ABCC1_uc010bvj.2_Missense_Mutation_p.A1057T|ABCC1_uc010bvk.2_Missense_Mutation_p.A1060T|ABCC1_uc010bvl.2_Missense_Mutation_p.A1116T|ABCC1_uc010bvm.2_Missense_Mutation_p.A1001T|ABCC1_uc002del.3_Missense_Mutation_p.A1010T	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1116	Helical; Name=15.|ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCCCATCGCCGCCATCATCAT	0.547												
XYLT1	64131	broad.mit.edu	37	16	17211773	17211773	+	Missense_Mutation	SNP	T	T	C	rs145121977		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:17211773T>C	uc002dfa.2	-	11	2372	c.2287A>G	c.(2287-2289)ATG>GTG	p.M763V		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	763	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4						GGCTCATCCATGGGCCCCAGA	0.572												
C16orf88	400506	broad.mit.edu	37	16	19725742	19725742	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:19725742T>C	uc002dgq.2	-	2	631	c.616A>G	c.(616-618)AGA>GGA	p.R206G	IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	hypothetical protein LOC400506	206	Lys-rich.					nucleolus					0						TTGTGTTCTCTGGGGCTCTTC	0.582												
UMOD	7369	broad.mit.edu	37	16	20360287	20360287	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:20360287G>A	uc002dgz.2	-	3	465	c.336C>T	c.(334-336)TGC>TGT	p.C112C	UMOD_uc002dha.2_Silent_p.C112C|UMOD_uc002dhb.2_Silent_p.C145C	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	112	EGF-like 3; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2						CAGGCTCAGCGCACTCATCCA	0.652												
PDILT	204474	broad.mit.edu	37	16	20410548	20410548	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:20410548G>A	uc002dhc.1	-	2	298	c.75C>T	c.(73-75)AAC>AAT	p.N25N		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	25					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						AAACACCGGCGTTAACCTCTG	0.607												
ACSM2A	123876	broad.mit.edu	37	16	20477014	20477014	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:20477014A>G	uc010bwe.2	+	4	592	c.353A>G	c.(352-354)GAG>GGG	p.E118G	ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.E39G|ACSM2A_uc002dhf.3_Missense_Mutation_p.E118G|ACSM2A_uc002dhg.3_Missense_Mutation_p.E118G|ACSM2A_uc010vay.1_Missense_Mutation_p.E39G	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	118					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						CGAGTGCCTGAGTGGTGGCTG	0.567												
THUMPD1	55623	broad.mit.edu	37	16	20752923	20752923	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:20752923G>T	uc002dho.2	-	1	277	c.139C>A	c.(139-141)CTC>ATC	p.L47I	THUMPD1_uc002dhp.2_Missense_Mutation_p.L47I	NM_017736	NP_060206	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	47											0						CAGGTGATGAGGATGCCCTGT	0.627												
DNAH3	55567	broad.mit.edu	37	16	20944658	20944658	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:20944658C>T	uc010vbe.1	-	62	12169	c.12169G>A	c.(12169-12171)GCA>ACA	p.A4057T	DNAH3_uc010vbd.1_Missense_Mutation_p.A1492T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4057					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AGAAACATTGCGCTCTCCCCA	0.522												
DNAH3	55567	broad.mit.edu	37	16	21049197	21049197	+	Silent	SNP	G	G	A	rs147624987		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:21049197G>A	uc010vbe.1	-	34	4836	c.4836C>T	c.(4834-4836)GCC>GCT	p.A1612A		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1612	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		GGTTTCCTGCGGCAGTAAGCA	0.527												
OTOA	146183	broad.mit.edu	37	16	21716605	21716605	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:21716605G>A	uc002djh.2	+	11	1097	c.1096G>A	c.(1096-1098)GTC>ATC	p.V366I	uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.V287I|OTOA_uc002dji.2_Missense_Mutation_p.V42I|OTOA_uc010vbk.1_Missense_Mutation_p.V14I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	otoancorin isoform 1	380					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(48;0.0414)		CCAGGCTGGCGTCCAGAAGGT	0.547												
USP31	57478	broad.mit.edu	37	16	23079695	23079695	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:23079695A>C	uc002dll.2	-	16	3731	c.3731T>G	c.(3730-3732)CTT>CGT	p.L1244R	USP31_uc002dlk.2_Missense_Mutation_p.L516R|USP31_uc010vca.1_Missense_Mutation_p.L547R|USP31_uc010bxm.2_Missense_Mutation_p.L532R	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1244					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		TGTCTTGCCAAGATCCGTCGA	0.542												
PALB2	79728	broad.mit.edu	37	16	23641270	23641270	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:23641270T>C	uc002dlx.1	-	5	2405	c.2205A>G	c.(2203-2205)CCA>CCG	p.P735P		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	735					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		GGCCAAAGGCTGGAGTAGTAC	0.458			F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			
TNRC6A	27327	broad.mit.edu	37	16	24788440	24788440	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:24788440C>A	uc002dmm.2	+	5	464	c.350C>A	c.(349-351)CCG>CAG	p.P117Q	TNRC6A_uc010bxs.2_5'UTR	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	117	Gln-rich.				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)		cagccgcagccgcagcagcag	0.244												
TNRC6A	27327	broad.mit.edu	37	16	24805922	24805922	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:24805922G>T	uc002dmm.2	+	8	3524	c.3410G>T	c.(3409-3411)CGC>CTC	p.R1137L	TNRC6A_uc010bxs.2_Missense_Mutation_p.R884L|TNRC6A_uc010vcc.1_Missense_Mutation_p.R884L|TNRC6A_uc002dmn.2_Missense_Mutation_p.R884L|TNRC6A_uc002dmo.2_Missense_Mutation_p.R825L	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1137	Sufficient for interaction with EIF2C1 and EIF2C4.|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)		CCTGGAAATCGCCCCACTGGC	0.408												
IL4R	3566	broad.mit.edu	37	16	27374237	27374237	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:27374237C>T	uc002don.2	+	11	1806	c.1564C>T	c.(1564-1566)CAC>TAC	p.H522Y	IL4R_uc002dop.3_Missense_Mutation_p.H507Y|IL4R_uc010bxy.2_Missense_Mutation_p.H522Y|IL4R_uc002doo.2_Missense_Mutation_p.H362Y	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	522	Cytoplasmic (Potential).|Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2						GCTGGCCAGACACCTGGAGGA	0.622												
GTF3C1	2975	broad.mit.edu	37	16	27476039	27476039	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:27476039G>A	uc002dov.1	-	34	5514	c.5474C>T	c.(5473-5475)GCC>GTC	p.A1825V	GTF3C1_uc002dou.2_Missense_Mutation_p.A1825V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1825						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CTGGATGTCGGCGTCTTCTCT	0.672												
SH2B1	25970	broad.mit.edu	37	16	28878287	28878287	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:28878287G>A	uc002dri.2	+	4	1311	c.872G>A	c.(871-873)CGC>CAC	p.R291H	uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.R291H|SH2B1_uc002drk.2_Missense_Mutation_p.R291H|SH2B1_uc002drl.2_Missense_Mutation_p.R291H|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.R291H|SH2B1_uc002drm.2_Missense_Mutation_p.R291H	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	291	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						CAGAAGTGTCGCCTGCTGCTT	0.657												
CD19	930	broad.mit.edu	37	16	28944726	28944726	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:28944726C>T	uc002drs.2	+	4	793	c.731C>T	c.(730-732)ACG>ATG	p.T244M	uc010vct.1_Intron|CD19_uc010byo.1_Missense_Mutation_p.T244M	NM_001770	NP_001761	P15391	CD19_HUMAN	CD19 antigen precursor	244	Extracellular (Potential).|Ig-like C2-type 2.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			ovary(2)|central_nervous_system(1)	3						GTAATGGAGACGGGTCTGTTG	0.577												
SPNS1	83985	broad.mit.edu	37	16	28993318	28993318	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:28993318C>T	uc010vdi.1	+	8	1046	c.906C>T	c.(904-906)CGC>CGT	p.R302R	uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.R229R|SPNS1_uc002dsa.2_Silent_p.R302R|SPNS1_uc002drz.2_Intron|SPNS1_uc010byp.2_Intron|SPNS1_uc010byq.1_Silent_p.R234R|LAT_uc010vdj.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	302					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						TGCGTTCCCGCGTGGTCCTTG	0.657											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SPNS1	83985	broad.mit.edu	37	16	28995158	28995158	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:28995158C>T	uc010vdi.1	+	12	1512	c.1372C>T	c.(1372-1374)CGG>TGG	p.R458W	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.R385W|SPNS1_uc002dsa.2_Missense_Mutation_p.R458W|SPNS1_uc002drz.2_Missense_Mutation_p.R406W|SPNS1_uc010byp.2_Missense_Mutation_p.R384W|SPNS1_uc010byq.1_Intron|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	458					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						GTCCGAGTTCCGGGCTCTGCA	0.652												
MVP	9961	broad.mit.edu	37	16	29845333	29845333	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:29845333C>T	uc002dui.2	+	5	607	c.523C>T	c.(523-525)CGG>TGG	p.R175W	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.R175W|MVP_uc010vea.1_5'UTR	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	175	MVP 4.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						CCAGGCTCTGCGGCTCAGGGC	0.647												
MVP	9961	broad.mit.edu	37	16	29847044	29847044	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:29847044C>T	uc002dui.2	+	6	681	c.597C>T	c.(595-597)ACC>ACT	p.T199T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_Intron|MVP_uc002duj.2_Silent_p.T199T|MVP_uc010vea.1_5'UTR	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	199	MVP 4.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						GGCTGGTCACCACAGTAGGGG	0.612												
ITGAL	3683	broad.mit.edu	37	16	30486631	30486631	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:30486631A>G	uc002dyi.3	+	3	345	c.169A>G	c.(169-171)ATC>GTC	p.I57V	ITGAL_uc010veu.1_RNA|ITGAL_uc002dyj.3_Missense_Mutation_p.I57V|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	57	FG-GAP 1.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	CACCAGGGTCATCGTGGGAGC	0.567												
ZNF785	146540	broad.mit.edu	37	16	30594513	30594513	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:30594513C>T	uc002dyw.1	-	3	664	c.586G>A	c.(586-588)GGG>AGG	p.G196R	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Missense_Mutation_p.G181R|ZNF785_uc010vez.1_Missense_Mutation_p.G161R	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGCCGCTCCCCGGAGTGGACC	0.652												
SRCAP	10847	broad.mit.edu	37	16	30723043	30723043	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:30723043G>T	uc002dze.1	+	11	1855	c.1470G>T	c.(1468-1470)CAG>CAT	p.Q490H	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.Q347H|SRCAP_uc010bzz.1_Missense_Mutation_p.Q60H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	490	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGCCTCCTCAGGAGGATAGTA	0.537												
SRCAP	10847	broad.mit.edu	37	16	30727671	30727671	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:30727671G>A	uc002dze.1	+	18	3073	c.2688G>A	c.(2686-2688)CAG>CAA	p.Q896Q	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.Q753Q|SRCAP_uc010bzz.1_Silent_p.Q466Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	896					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)			TTTTGATGCAGCTGAGAAAAG	0.498												
RNF40	9810	broad.mit.edu	37	16	30779269	30779269	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:30779269A>G	uc002dzq.2	+	12	1607	c.1484A>G	c.(1483-1485)CAC>CGC	p.H495R	RNF40_uc010caa.2_Missense_Mutation_p.H495R|RNF40_uc010cab.2_Missense_Mutation_p.H395R|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.H495R|RNF40_uc010vfb.1_Missense_Mutation_p.H187R|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	495	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			AACCACAACCACCAGCTAAAA	0.537												
ZNF629	23361	broad.mit.edu	37	16	30795244	30795244	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:30795244C>T	uc002dzs.1	-	3	613	c.405G>A	c.(403-405)CTG>CTA	p.L135L		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			CCAGCTCCCGCAGGCTGGGCT	0.697												
FBXL19	54620	broad.mit.edu	37	16	30941444	30941444	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:30941444G>A	uc002eab.2	+	7	1058	c.900G>A	c.(898-900)CCG>CCA	p.P300P	FBXL19_uc002dzz.1_5'UTR|FBXL19_uc002eaa.1_Silent_p.P199P	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	300	Pro-rich.						DNA binding|zinc ion binding			ovary(2)|lung(1)|breast(1)	4						TGCCGTCCCCGTCCCCGCAGA	0.612												
ZNF646	9726	broad.mit.edu	37	16	31089161	31089161	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:31089161G>A	uc002eap.2	+	2	1805	c.1516G>A	c.(1516-1518)GCC>ACC	p.A506T		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	506	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						CAATCTCATGGCCCTGCGCAA	0.637												
ZNF646	9726	broad.mit.edu	37	16	31091608	31091608	+	Silent	SNP	C	C	T	rs137989174	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:31091608C>T	uc002eap.2	+	2	4252	c.3963C>T	c.(3961-3963)CAC>CAT	p.H1321H		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1321	C2H2-type 23.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						GGCGCAGCCACGAGACGGGCC	0.682												
ZNF646	9726	broad.mit.edu	37	16	31092372	31092372	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:31092372G>A	uc002eap.2	+	2	5016	c.4727G>A	c.(4726-4728)AGC>AAC	p.S1576N		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1576	C2H2-type 26.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						AAGAGCCACAGCCACAACCAC	0.562												
ZNF646	9726	broad.mit.edu	37	16	31092982	31092982	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:31092982C>G	uc002eap.2	+	2	5626	c.5337C>G	c.(5335-5337)CAC>CAG	p.H1779Q		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1779	C2H2-type 31.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						TCGTGCAGCACCAGCAGCAGC	0.701												
PRSS36	146547	broad.mit.edu	37	16	31152924	31152924	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:31152924G>A	uc002ebd.2	-	12	1826	c.1767C>T	c.(1765-1767)GGC>GGT	p.G589G	PRSS36_uc010vff.1_Silent_p.G364G|PRSS36_uc010vfg.1_Silent_p.G584G|PRSS36_uc010vfh.1_Silent_p.G589G	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	589					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						CCAGCCGCAGGCCACAGGCTA	0.687												
ITGAM	3684	broad.mit.edu	37	16	31343009	31343009	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:31343009C>T	uc002ebq.2	+	30	3538	c.3440C>T	c.(3439-3441)CCG>CTG	p.P1147L	ITGAM_uc002ebr.2_Missense_Mutation_p.P1148L|ITGAM_uc010can.2_Missense_Mutation_p.P553L	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	1147	Cytoplasmic (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						GGGGGTCCCCCGGGGGCCGAA	0.662												
GPT2	84706	broad.mit.edu	37	16	46943701	46943701	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:46943701G>A	uc002eel.2	+	6	776	c.682G>A	c.(682-684)GCC>ACC	p.A228T	GPT2_uc002eem.2_Missense_Mutation_p.A128T	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase 2 isoform 1	228					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGAGCTCGACGCCATCCAGGT	0.582												
PHKB	5257	broad.mit.edu	37	16	47630429	47630429	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:47630429C>T	uc002eev.3	+	13	1402	c.1350C>T	c.(1348-1350)ATC>ATT	p.I450I	PHKB_uc002eeu.3_Silent_p.I443I	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	450					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTTATATCATCGCAAAACTCC	0.363												
ZNF423	23090	broad.mit.edu	37	16	49671548	49671548	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:49671548G>T	uc002efs.2	-	5	1813	c.1515C>A	c.(1513-1515)GGC>GGA	p.G505G	ZNF423_uc010vgn.1_Silent_p.G388G	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	505					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TGGCGTTGGGGCCGCAGTGGG	0.567												
ZNF423	23090	broad.mit.edu	37	16	49764730	49764730	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:49764730C>T	uc002efs.2	-	4	527	c.229G>A	c.(229-231)GAG>AAG	p.E77K		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	77	C2H2-type 1; degenerate.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GCCAGAGACTCGAAGTCCTGC	0.527												
ZNF423	23090	broad.mit.edu	37	16	49823441	49823441	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:49823441G>T	uc002efs.2	-	3	331	c.33C>A	c.(31-33)GCC>GCA	p.A11A		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	11					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				AGAAGTCTGAGGCCTCCCCCT	0.582												
PAPD5	64282	broad.mit.edu	37	16	50259111	50259111	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:50259111C>T	uc010vgo.1	+	11	1705	c.1670C>T	c.(1669-1671)TCG>TTG	p.S557L	PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Intron|PAPD5_uc002ega.2_Missense_Mutation_p.S348L	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding				0		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGTAAAACCTCGGAATCTCTT	0.383												
SALL1	6299	broad.mit.edu	37	16	51175621	51175621	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:51175621G>A	uc010vgs.1	-	2	543	c.512C>T	c.(511-513)GCG>GTG	p.A171V	SALL1_uc010vgr.1_Missense_Mutation_p.A74V|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	171					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)			GGTTGTGATCGCTGAGGTACC	0.443												
IRX5	10265	broad.mit.edu	37	16	54965339	54965339	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:54965339G>A	uc002ehv.2	+	1	229	c.229G>A	c.(229-231)GCC>ACC	p.A77T	uc010vhb.1_5'Flank|uc010vhc.1_5'Flank|uc002ehu.1_5'Flank|IRX5_uc010cca.1_Missense_Mutation_p.A77T|IRX5_uc002ehw.2_5'Flank	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	77	Poly-Ala.			YGADPAAAAAAAFSSYV -> MAVETTVHTHLSASPPQ (in Ref. 2; AAB50002).	response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						cgccgccgccgccgccTTCTC	0.612												
IRX6	79190	broad.mit.edu	37	16	55360397	55360397	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:55360397C>T	uc002ehy.2	+	2	728	c.195C>T	c.(193-195)GGC>GGT	p.G65G	IRX6_uc002ehx.2_Silent_p.G65G|IRX6_uc010ccb.1_RNA	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	65						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CGGAGCTGGGCGCCGCCTTGG	0.662												
MMP2	4313	broad.mit.edu	37	16	55519616	55519616	+	Silent	SNP	C	C	T	rs148801200	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:55519616C>T	uc002ehz.3	+	5	1070	c.759C>T	c.(757-759)AGC>AGT	p.S253S	MMP2_uc010vhd.1_Silent_p.S177S|MMP2_uc010ccc.2_Silent_p.S203S	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	253	Fibronectin type-II 1.|Collagen-binding.				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)	CCGGCCGCAGCGATGGCTTCC	0.547												
MMP2	4313	broad.mit.edu	37	16	55523700	55523700	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:55523700G>A	uc002ehz.3	+	7	1455	c.1144G>A	c.(1144-1146)GAT>AAT	p.D382N	MMP2_uc010vhd.1_Missense_Mutation_p.D306N|MMP2_uc010ccc.2_Missense_Mutation_p.D332N	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	382	Fibronectin type-II 3.|Collagen-binding.				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)	AGCCAACTACGATGATGACCG	0.572												
SLC6A2	6530	broad.mit.edu	37	16	55719063	55719063	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:55719063T>C	uc002eif.2	+	5	764	c.653T>C	c.(652-654)GTC>GCC	p.V218A	SLC6A2_uc010ccd.2_Missense_Mutation_p.V218A|SLC6A2_uc002eig.2_Missense_Mutation_p.V218A|SLC6A2_uc002eih.2_Missense_Mutation_p.V218A|SLC6A2_uc002eii.2_Missense_Mutation_p.V113A|SLC6A2_uc002eij.2_5'UTR	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	218	Extracellular (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)	AGGCGTGGTGTCCTGCACCTT	0.592												
CES1	1066	broad.mit.edu	37	16	55866923	55866923	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:55866923C>T	uc002eim.2	-	1	153	c.45G>A	c.(43-45)GCG>GCA	p.A15A	CES1_uc002eil.2_Silent_p.A15A|CES1_uc002ein.2_Silent_p.A15A	NM_001025194	NP_001020365	P23141	EST1_HUMAN	carboxylesterase 1 isoform b precursor	15					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CACCCCAAGCCGCGGAAGCAG	0.567												
NUP93	9688	broad.mit.edu	37	16	56782280	56782280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:56782280G>T	uc002eka.2	+	2	242	c.121G>T	c.(121-123)GAG>TAG	p.E41*		NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	41					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						GCAGGCGGGAGAGCGCCTGCG	0.577												
CETP	1071	broad.mit.edu	37	16	57004961	57004961	+	Nonsense_Mutation	SNP	C	C	T	rs142750310		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57004961C>T	uc002eki.2	+	6	601	c.544C>T	c.(544-546)CAG>TAG	p.Q182*	CETP_uc002ekj.2_Nonsense_Mutation_p.Q182*	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	182					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)|skin(1)	2						GTGGATCAAGCAGCTGTTCAC	0.468												
NLRC5	84166	broad.mit.edu	37	16	57059400	57059400	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57059400G>A	uc002ekk.1	+	6	770	c.545G>A	c.(544-546)CGC>CAC	p.R182H	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_5'UTR|NLRC5_uc002ekl.2_5'UTR|NLRC5_uc002ekm.2_5'UTR|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	182					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				CCAATCCTGCGCCGGGCCACA	0.627												
RSPRY1	89970	broad.mit.edu	37	16	57255240	57255240	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57255240C>T	uc002elb.2	+	10	1352	c.1074C>T	c.(1072-1074)GCC>GCT	p.A358A	RSPRY1_uc002elc.2_Silent_p.A358A|RSPRY1_uc002eld.2_Silent_p.A358A	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	358	B30.2/SPRY.					extracellular region	zinc ion binding			ovary(1)	1						GTGTGGATGCCGGGGTATGGT	0.488												
ARL2BP	23568	broad.mit.edu	37	16	57282448	57282448	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57282448G>A	uc002elf.1	+	3	343	c.101_splice	c.e3-1	p.D34_splice	ARL2BP_uc010ccy.1_Splice_Site|ARL2BP_uc010vhl.1_Splice_Site_p.D34_splice	NM_012106	NP_036238	Q9Y2Y0	AR2BP_HUMAN	binder of Arl Two						maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction	centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle	protein binding|small GTPase regulator activity|transcription coactivator activity				0						CTGTGGTTCAGATGACGAGTT	0.353												
CCDC102A	92922	broad.mit.edu	37	16	57549292	57549292	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57549292C>A	uc002elw.2	-	8	1697	c.1484G>T	c.(1483-1485)AGC>ATC	p.S495I		NM_033212	NP_149989	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	495	Potential.									ovary(1)	1						CAGGTTCTCGCTCTGCTCCGT	0.652												
KIFC3	3801	broad.mit.edu	37	16	57803606	57803606	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57803606C>T	uc002emp.2	-	9	1316	c.1119G>A	c.(1117-1119)CCG>CCA	p.P373P	KIFC3_uc010vhw.1_Silent_p.P271P|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Silent_p.P234P|KIFC3_uc010vhx.1_Silent_p.P234P|KIFC3_uc010cdf.2_Silent_p.P234P|KIFC3_uc002emo.3_Silent_p.P234P|KIFC3_uc010vhy.1_Silent_p.P315P|KIFC3_uc002emq.2_Silent_p.P373P|KIFC3_uc010vhz.1_Silent_p.P395P|KIFC3_uc002emr.1_Silent_p.P150P	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	373					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				TCCGCAGTGCCGGCTGCAAGG	0.687												
CNGB1	1258	broad.mit.edu	37	16	57918077	57918077	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57918077C>A	uc002emt.2	-	33	3812	c.3747G>T	c.(3745-3747)AAG>AAT	p.K1249N	CNGB1_uc010cdh.2_Missense_Mutation_p.K1243N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1249	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						CTTACTCCGCCTTCTCCTCCC	0.701												
CNGB1	1258	broad.mit.edu	37	16	57951309	57951309	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:57951309G>A	uc002emt.2	-	21	2094	c.2029C>T	c.(2029-2031)CGC>TGC	p.R677C	CNGB1_uc010cdh.2_Missense_Mutation_p.R671C	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	677	Extracellular (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						AAGGCCCAGCGCACGGGAATC	0.557												
ZNF319	57567	broad.mit.edu	37	16	58030907	58030907	+	Silent	SNP	G	G	A	rs150126886		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:58030907G>A	uc002emx.1	-	2	1886	c.1263C>T	c.(1261-1263)CCC>CCT	p.P421P		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	421	C2H2-type 11; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CGGCCGCGCCGGGCAGGCACT	0.662												
GINS3	64785	broad.mit.edu	37	16	58438451	58438451	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:58438451T>A	uc002enh.3	+	3	677	c.469T>A	c.(469-471)TAC>AAC	p.Y157N	GINS3_uc010cdj.2_Missense_Mutation_p.Y196N|GINS3_uc002enj.3_Missense_Mutation_p.Y79N|GINS3_uc002eni.3_Nonsense_Mutation_p.L158*	NM_022770	NP_073607	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 isoform b	157					DNA replication	nucleus					0						ACAGAATGCTTACAACGAAGA	0.498												
CNOT1	23019	broad.mit.edu	37	16	58594174	58594174	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:58594174A>G	uc002env.2	-	17	2365	c.2072T>C	c.(2071-2073)GTT>GCT	p.V691A	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.V691A|CNOT1_uc002enx.2_Missense_Mutation_p.V691A|CNOT1_uc002enz.1_Missense_Mutation_p.V120A|SNORA50_uc002eoa.1_5'Flank	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	691					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTTTGGCATAACTCCAGGTGG	0.423												
CNOT1	23019	broad.mit.edu	37	16	58620474	58620474	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:58620474G>A	uc002env.2	-	7	905	c.612C>T	c.(610-612)GAC>GAT	p.D204D	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.D204D|CNOT1_uc002enx.2_Silent_p.D204D|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	204					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAAGAAAAGCGTCTATCTGTT	0.478												
SLC38A7	55238	broad.mit.edu	37	16	58713974	58713974	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:58713974G>A	uc002eod.1	-	3	450	c.57C>T	c.(55-57)GCC>GCT	p.A19A	SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Silent_p.A19A|SLC38A7_uc010vil.1_Intron|SLC38A7_uc002eoe.1_Silent_p.A19A	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	19					amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						CCCGCTCCCCGGCATCCGTGC	0.622												
CBFB	865	broad.mit.edu	37	16	67070635	67070635	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67070635G>A	uc002era.2	+	3	520	c.259G>A	c.(259-261)GAC>AAC	p.D87N	CBFB_uc002erb.2_Missense_Mutation_p.D87N|CBFB_uc010vja.1_Intron	NM_001755	NP_001746	Q13951	PEBB_HUMAN	core-binding factor, beta subunit isoform 2	87					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		AGAGTATGTCGACTTAGAAAG	0.413			T	MYH11	AML							
FHOD1	29109	broad.mit.edu	37	16	67271633	67271633	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67271633C>T	uc002esl.2	-	7	793	c.681G>A	c.(679-681)TTG>TTA	p.L227L	FHOD1_uc010ced.2_Silent_p.L34L|FHOD1_uc010vjh.1_5'UTR	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	227	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CTACAAACACCAACAGCAGCT	0.562												
ATP6V0D1	9114	broad.mit.edu	37	16	67477019	67477019	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67477019G>A	uc002ete.1	-	4	644	c.544C>T	c.(544-546)CGC>TGC	p.R182C	ATP6V0D1_uc010vjo.1_Missense_Mutation_p.R223C|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.R105C	NM_004691	NP_004682	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	182					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		AGGGTGTTGCGGATGATCTCG	0.562												
FAM65A	79567	broad.mit.edu	37	16	67576573	67576573	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67576573T>C	uc010vjp.1	+	13	2040	c.1944T>C	c.(1942-1944)AGT>AGC	p.S648S	FAM65A_uc010cei.1_Silent_p.S470S|FAM65A_uc002eth.2_Silent_p.S628S|FAM65A_uc010cej.2_Silent_p.S631S|FAM65A_uc002eti.1_Silent_p.S591S|FAM65A_uc010vjq.1_Silent_p.S642S|FAM65A_uc002etj.1_Silent_p.S627S|FAM65A_uc002etk.2_Silent_p.S627S	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	632	Pro-rich.					cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCCCACAAGTCCCACCCACA	0.572												
RLTPR	146206	broad.mit.edu	37	16	67683419	67683419	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67683419G>A	uc002etn.2	+	20	1936	c.1816G>A	c.(1816-1818)GCC>ACC	p.A606T	RLTPR_uc010cel.1_Missense_Mutation_p.A599T|RLTPR_uc010vjr.1_Missense_Mutation_p.A570T	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	606	Tropomodulin-like.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCGGGCCCTAGCCACCAATCC	0.632												
PARD6A	50855	broad.mit.edu	37	16	67695812	67695812	+	Silent	SNP	C	C	T	rs144160135		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67695812C>T	uc002ett.2	+	3	394	c.303C>T	c.(301-303)AGC>AGT	p.S101S	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Silent_p.S100S|PARD6A_uc002etu.2_5'UTR	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN	par-6 partitioning defective 6 homolog alpha	101	Interaction with PRKCI and PRKCZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTGACTCCAGCGGCCTGGCTT	0.612												
EDC4	23644	broad.mit.edu	37	16	67912273	67912273	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67912273G>A	uc002eur.2	+	9	1181	c.1015G>A	c.(1015-1017)GAG>AAG	p.E339K	EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.E271K|EDC4_uc010ces.1_Missense_Mutation_p.E182K|EDC4_uc002eus.2_Missense_Mutation_p.E69K	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	339					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GTGTCTGCACGAGTGGAAACC	0.607												
SLC12A4	6560	broad.mit.edu	37	16	67979106	67979106	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67979106C>A	uc002euz.2	-	23	3191	c.3050G>T	c.(3049-3051)CGG>CTG	p.R1017L	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.R1011L|SLC12A4_uc010vkh.1_Missense_Mutation_p.R986L|SLC12A4_uc010vki.1_Missense_Mutation_p.R1011L|SLC12A4_uc010vkj.1_Missense_Mutation_p.R1019L|SLC12A4_uc002eva.2_Missense_Mutation_p.R1017L	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	1017	Cytoplasmic (Potential).				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGCATGCGCCGCACATTGGA	0.582												
PRMT7	54496	broad.mit.edu	37	16	68371434	68371434	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:68371434C>T	uc002evy.1	+	7	740	c.464C>T	c.(463-465)GCG>GTG	p.A155V	PRMT7_uc002evx.1_Missense_Mutation_p.A155V|PRMT7_uc010vlg.1_Missense_Mutation_p.A105V|PRMT7_uc002evz.1_Intron	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	155					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GGGGAGGGGGCGCTGCCCTCC	0.562												
CDH1	999	broad.mit.edu	37	16	68853293	68853293	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:68853293G>A	uc002ewg.1	+	11	1800	c.1676G>A	c.(1675-1677)AGC>AAC	p.S559N	CDH1_uc010vlj.1_Intron|CDH1_uc010cfg.1_Missense_Mutation_p.S498N	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	559	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.S559N(1)		breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GTGAAGAACAGCACGTACACA	0.542			Mis|N|F|S		lobular breast|gastric	gastric			Hereditary_Diffuse_Gastric_Cancer			
TMCO7	79613	broad.mit.edu	37	16	68877538	68877538	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:68877538C>A	uc002ewi.3	+	1	30	c.18C>A	c.(16-18)GCC>GCA	p.A6A	TMCO7_uc002ewh.2_Silent_p.A6A	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	6						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		CCCGACAGGCCGTGGGCAGCG	0.677												
TMCO7	79613	broad.mit.edu	37	16	68936256	68936256	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:68936256T>C	uc002ewi.3	+	9	1528	c.1516T>C	c.(1516-1518)TGG>CGG	p.W506R		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	506						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		AATCTTATTATGGATTCTGGG	0.423												
TERF2	7014	broad.mit.edu	37	16	69402283	69402283	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:69402283C>T	uc002exd.2	-	6	942	c.817G>A	c.(817-819)GCA>ACA	p.A273T		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	273					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				TTTTACCTTGCGGGTTCTCTG	0.522												
CYB5B	80777	broad.mit.edu	37	16	69458545	69458545	+	Translation_Start_Site	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:69458545G>T	uc002exg.1	+	1	48	c.-41G>T	c.(-43--39)AAGGA>AATGA		CYB5B_uc002exf.2_Translation_Start_Site|CYB5B_uc010cfl.1_Translation_Start_Site	NM_030579	NP_085056	O43169	CYB5B_HUMAN	cytochrome b5 outer mitochondrial membrane						electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding				0		Ovarian(137;0.101)				GGGCTCTCAAGGAAAGTAGTC	0.572												
NQO1	1728	broad.mit.edu	37	16	69752129	69752129	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:69752129T>G	uc002exp.2	-	3	391	c.200A>C	c.(199-201)CAG>CCG	p.Q67P	NQO1_uc010cfm.2_Missense_Mutation_p.Q46P|NQO1_uc002exq.2_Missense_Mutation_p.Q67P|NQO1_uc002exr.2_Missense_Mutation_p.Q67P|NQO1_uc010vll.1_Missense_Mutation_p.Q67P	NM_000903	NP_000894	P15559	NQO1_HUMAN	NAD(P)H menadione oxidoreductase 1,	67		FAD.			nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity				0					Dicumarol(DB00266)|Menadione(DB00170)	GGCAGGATACTGAAAGTTCGC	0.522												
AARS	16	broad.mit.edu	37	16	70294991	70294991	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:70294991C>T	uc002eyn.1	-	13	1851	c.1741G>A	c.(1741-1743)GGT>AGT	p.G581S	AARS_uc010vlu.1_Missense_Mutation_p.G411S	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	581					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TTCAGGTCACCGTAGATGGTT	0.463												
ST3GAL2	6483	broad.mit.edu	37	16	70428933	70428933	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:70428933C>T	uc002eyw.2	-	2	2593	c.485G>A	c.(484-486)CGG>CAG	p.R162Q	ST3GAL2_uc002eyx.2_Missense_Mutation_p.R162Q	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	162	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)				GCCAGAGCCCCGCAGGTTGCC	0.667												
MTSS1L	92154	broad.mit.edu	37	16	70698263	70698263	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:70698263T>C	uc002ezj.2	-	15	1821	c.1561A>G	c.(1561-1563)AGC>GGC	p.S521G		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	521					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1						GCGATGTTGCTGTTGCGCGGG	0.682												
ZNF821	55565	broad.mit.edu	37	16	71898146	71898146	+	Splice_Site	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:71898146C>A	uc010vmj.1	-	5	689	c.313_splice	c.e5-1	p.V105_splice	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_Splice_Site|ZNF821_uc002fbf.2_Splice_Site_p.V63_splice|ZNF821_uc002fbg.3_Splice_Site|ZNF821_uc002fbh.3_Splice_Site_p.V63_splice|ZNF821_uc002fbi.3_Intron	NM_017530	NP_060000	O75541	ZN821_HUMAN	zinc finger protein 821						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCCCTGTGACCTGTGATTCAA	0.493												
ZFHX3	463	broad.mit.edu	37	16	72821566	72821566	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:72821566C>T	uc002fck.2	-	10	11282	c.10609G>A	c.(10609-10611)GCG>ACG	p.A3537T	uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Missense_Mutation_p.A2623T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3537	C2H2-type 22.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CCACAGAGCGCGCTCTCGCAC	0.398												
ZFHX3	463	broad.mit.edu	37	16	72829504	72829504	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:72829504C>T	uc002fck.2	-	9	7750	c.7077G>A	c.(7075-7077)GGG>GGA	p.G2359G	ZFHX3_uc002fcl.2_Silent_p.G1445G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2359					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TGTCGTCCTGCCCCTCCTCAT	0.512												
ZFHX3	463	broad.mit.edu	37	16	72831385	72831385	+	Silent	SNP	T	T	C	rs76691369		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:72831385T>C	uc002fck.2	-	9	5869	c.5196A>G	c.(5194-5196)CAA>CAG	p.Q1732Q	ZFHX3_uc002fcl.2_Silent_p.Q818Q	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1732	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				gttgttgttgttgctgttgct	0.413												
ZFHX3	463	broad.mit.edu	37	16	72831705	72831705	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:72831705C>T	uc002fck.2	-	9	5549	c.4876G>A	c.(4876-4878)GCA>ACA	p.A1626T	ZFHX3_uc002fcl.2_Missense_Mutation_p.A712T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1626					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				AGCTTGGCTGCCCGGGCCTTG	0.527												
LDHD	197257	broad.mit.edu	37	16	75149237	75149237	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:75149237C>T	uc002fdm.2	-	3	233	c.186G>A	c.(184-186)AGG>AGA	p.R62R	LDHD_uc002fdn.2_Silent_p.R62R	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	62	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						GAGGTTCGCACCTAGAACCAG	0.627												
ZFP1	162239	broad.mit.edu	37	16	75203207	75203207	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:75203207G>A	uc002fdo.2	+	4	363	c.199G>A	c.(199-201)GCG>ACG	p.A67T	ZFP1_uc002fdp.2_Missense_Mutation_p.A12T|ZFP1_uc010cgt.2_Missense_Mutation_p.A34T|ZFP1_uc010cgs.2_Missense_Mutation_p.A12T|ZFP1_uc002fdq.2_Missense_Mutation_p.A67T	NM_153688	NP_710155	Q6P2D0	ZFP1_HUMAN	zinc finger protein 1 homolog	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGACGAGCAGGCGAGGCAATT	0.433												
CHST6	4166	broad.mit.edu	37	16	75512651	75512651	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:75512651C>T	uc002fef.2	-	3	1256	c.1076G>A	c.(1075-1077)CGG>CAG	p.R359Q	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R359Q	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	359	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GTACACAGGCCGGTAGCCCAG	0.662												
WWOX	51741	broad.mit.edu	37	16	78198170	78198170	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:78198170G>A	uc002ffk.2	+	5	625	c.500G>A	c.(499-501)CGC>CAC	p.R167H	WWOX_uc010vnk.1_Missense_Mutation_p.R54H|WWOX_uc002ffl.2_Missense_Mutation_p.R167H|WWOX_uc010che.2_Intron|WWOX_uc002ffj.1_Missense_Mutation_p.R167H	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	167	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GCAGTGTCACGCATTTTAGAA	0.453												
ATMIN	23300	broad.mit.edu	37	16	81075942	81075942	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:81075942G>A	uc002ffz.1	+	3	537	c.519G>A	c.(517-519)TCG>TCA	p.S173S	ATMIN_uc002fga.2_Silent_p.S15S|ATMIN_uc010vnn.1_Intron|ATMIN_uc002fgb.1_Silent_p.S15S	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	173	C2H2-type 2; degenerate.				response to DNA damage stimulus	nucleus	zinc ion binding				0						GCAGCAATTCGTACGGTACAG	0.493												
GAN	8139	broad.mit.edu	37	16	81388220	81388220	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:81388220A>G	uc002fgo.2	+	3	641	c.493A>G	c.(493-495)AGC>GGC	p.S165G		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	165	BACK.				cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				CCGAGACGTCAGCAGCACGGA	0.423												
IRF8	3394	broad.mit.edu	37	16	85946833	85946833	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:85946833C>T	uc002fjh.2	+	5	601	c.544C>T	c.(544-546)CCC>TCC	p.P182S	IRF8_uc010chp.2_Intron	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	182					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|ovary(1)	3		Prostate(104;0.0771)				GGCGCAGCAGCCCAGCACAGG	0.617												
CA5A	763	broad.mit.edu	37	16	87969966	87969966	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:87969966C>G	uc002fkn.1	-	1	147	c.91G>C	c.(91-93)GGG>CGG	p.G31R		NM_001739	NP_001730	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial precursor	31					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0513)		CACCATCGCCCTGGCCTCATC	0.512												
ZC3H18	124245	broad.mit.edu	37	16	88675395	88675395	+	Missense_Mutation	SNP	G	G	A	rs140943631	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:88675395G>A	uc002fky.2	+	7	1342	c.1142G>A	c.(1141-1143)CGT>CAT	p.R381H	ZC3H18_uc010voy.1_Missense_Mutation_p.R264H|ZC3H18_uc010voz.1_Missense_Mutation_p.R405H|ZC3H18_uc010chw.2_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	381						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGGTTTTGGCGTGGCGGACAG	0.423												
CDT1	81620	broad.mit.edu	37	16	88871997	88871997	+	Missense_Mutation	SNP	C	C	T	rs146872515		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:88871997C>T	uc002flu.2	+	4	692	c.638C>T	c.(637-639)ACG>ATG	p.T213M		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	213					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)		CGCTCCGAGACGCCCACCTTT	0.672												
ZNF778	197320	broad.mit.edu	37	16	89293211	89293211	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89293211G>A	uc002fmv.2	+	6	770	c.431G>A	c.(430-432)AGT>AAT	p.S144N	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.S102N|ZNF778_uc010vpg.1_5'UTR	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACAGGAGACAGTTGTGTGTCT	0.458												
ZNF778	197320	broad.mit.edu	37	16	89293704	89293704	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89293704C>A	uc002fmv.2	+	6	1263	c.924C>A	c.(922-924)CCC>CCA	p.P308P	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.P266P|ZNF778_uc010vpg.1_Silent_p.P71P	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CAGAGAAACCCTGTGAATGTA	0.463												
ANKRD11	29123	broad.mit.edu	37	16	89348269	89348269	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89348269G>T	uc002fmx.1	-	9	5142	c.4681C>A	c.(4681-4683)CCA>ACA	p.P1561T	ANKRD11_uc002fmy.1_Missense_Mutation_p.P1561T|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1561T|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1518T	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1561	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)		TTCTTGCCTGGGTCTTTGGAT	0.552												
ANKRD11	29123	broad.mit.edu	37	16	89350090	89350090	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89350090C>T	uc002fmx.1	-	9	3321	c.2860G>A	c.(2860-2862)GCC>ACC	p.A954T	ANKRD11_uc002fmy.1_Missense_Mutation_p.A954T|ANKRD11_uc002fnc.1_Missense_Mutation_p.A954T|ANKRD11_uc002fnb.1_Missense_Mutation_p.A911T	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	954	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)		CTCTCCAGGGCGTCCTTTCTG	0.612												
ANKRD11	29123	broad.mit.edu	37	16	89357036	89357036	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89357036C>T	uc002fmx.1	-	6	1059	c.598G>A	c.(598-600)GCA>ACA	p.A200T	ANKRD11_uc002fmy.1_Missense_Mutation_p.A200T|ANKRD11_uc002fnc.1_Missense_Mutation_p.A200T|ANKRD11_uc002fnd.2_Missense_Mutation_p.A166T|ANKRD11_uc002fne.2_Missense_Mutation_p.A166T|ANKRD11_uc002fnb.1_Missense_Mutation_p.A157T	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	200	ANK 2.					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)		TGCCCACCTGCGAAGTCCTTG	0.692												
DPEP1	1800	broad.mit.edu	37	16	89703696	89703696	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89703696C>T	uc010cin.2	+	7	879	c.676C>T	c.(676-678)CTG>TTG	p.L226L	DPEP1_uc002fnr.3_Silent_p.L226L|DPEP1_uc002fns.3_Silent_p.L226L	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN	dipeptidase 1 precursor	226					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(1)	1		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CACCCTGCAGCTGTCCAGAGC	0.647												
C16orf55	124045	broad.mit.edu	37	16	89735849	89735849	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89735849C>A	uc002fnw.1	+	3	364	c.364C>A	c.(364-366)CGG>AGG	p.R122R	C16orf55_uc010vpk.1_Silent_p.R123R|C16orf55_uc002fny.1_RNA	NM_153025	NP_694570	Q96N06	CP055_HUMAN	hypothetical protein LOC124045	122											0		all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GGGCCCCTACCGGCGGCACAG	0.567												
SPATA2L	124044	broad.mit.edu	37	16	89764597	89764597	+	Silent	SNP	G	G	A	rs146721452	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89764597G>A	uc002foj.2	-	3	485	c.420C>T	c.(418-420)ACC>ACT	p.T140T	SPATA2L_uc002fok.2_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	140											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGGGCAGGGCGGTCACCATGA	0.657												
ZNF276	92822	broad.mit.edu	37	16	89804288	89804288	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89804288C>T	uc002fos.3	+	10	1646	c.1549C>T	c.(1549-1551)CGA>TGA	p.R517*	ZNF276_uc010ciq.2_Nonsense_Mutation_p.R303*|ZNF276_uc002fop.2_Nonsense_Mutation_p.R425*|ZNF276_uc002foq.3_Nonsense_Mutation_p.R442*|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Nonsense_Mutation_p.R303*|ZNF276_uc010cis.2_Nonsense_Mutation_p.R276*|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Nonsense_Mutation_p.R355*|ZNF276_uc010cit.1_Nonsense_Mutation_p.R276*|FANCA_uc002fou.1_3'UTR|FANCA_uc010vpn.1_3'UTR	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	517	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCACCAAATGCGACATTCGGG	0.572												
TCF25	22980	broad.mit.edu	37	16	89977610	89977610	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89977610C>T	uc002fpb.2	+	18	2077	c.1995C>T	c.(1993-1995)CAC>CAT	p.H665H	TCF25_uc002fpc.2_Nonsense_Mutation_p.R470*|uc010ciy.1_5'Flank	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	665					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGGCGCCGCACGAGGACGACG	0.622												
NXN	64359	broad.mit.edu	37	17	708348	708348	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:708348G>A	uc002fsa.2	-	6	1052	c.960C>T	c.(958-960)GCC>GCT	p.A320A	NXN_uc010vqd.1_Intron|NXN_uc002frz.2_Silent_p.A71A|NXN_uc010vqe.1_Silent_p.A212A	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	320	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TAAGCTGCGCGGCGTTGGAGT	0.692												
NXN	64359	broad.mit.edu	37	17	722696	722696	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:722696C>T	uc002fsa.2	-	5	895	c.803G>A	c.(802-804)CGG>CAG	p.R268Q	NXN_uc002fsb.1_Missense_Mutation_p.R155Q|NXN_uc010vqd.1_Missense_Mutation_p.R19Q|NXN_uc002frz.2_Missense_Mutation_p.R19Q|NXN_uc010vqe.1_Missense_Mutation_p.R160Q	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	268	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCCGTACAGCCGGTTGAGGCG	0.607												
SMYD4	114826	broad.mit.edu	37	17	1686367	1686367	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:1686367G>A	uc002ftm.3	-	10	2391	c.2223C>T	c.(2221-2223)GGC>GGT	p.G741G	SMYD4_uc002ftn.1_Silent_p.G596G	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	741							zinc ion binding			skin(3)|kidney(2)	5						AGAGCTCATGGCCCATTTCAA	0.522												
SMG6	23293	broad.mit.edu	37	17	1985165	1985165	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:1985165G>A	uc002fub.1	-	15	3675	c.3620C>T	c.(3619-3621)GCC>GTC	p.A1207V	SMG6_uc010vqv.1_Missense_Mutation_p.A299V	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	1207	Potential.				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						CAGCTTCTTGGCCCGAAGCTC	0.587												
SMG6	23293	broad.mit.edu	37	17	2186003	2186003	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:2186003C>A	uc002fub.1	-	8	2654	c.2599G>T	c.(2599-2601)GGC>TGC	p.G867C		NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	867					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						GACTCAGTGCCCTGGGAAGAC	0.527												
SGSM2	9905	broad.mit.edu	37	17	2280072	2280072	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:2280072C>T	uc002fun.3	+	19	2695	c.2520C>T	c.(2518-2520)TGC>TGT	p.C840C	SGSM2_uc002fum.3_Silent_p.C885C|SGSM2_uc010vqw.1_Silent_p.C840C|SGSM2_uc002fup.1_Silent_p.C18C|SGSM2_uc002fuq.2_Silent_p.C2C	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	840	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGGGCATGTGCGATCTGCTGG	0.632												
KIAA0664	23277	broad.mit.edu	37	17	2601770	2601770	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:2601770T>C	uc002fuy.1	-	10	1353	c.1267A>G	c.(1267-1269)AAC>GAC	p.N423D	KIAA0664_uc002fux.1_Missense_Mutation_p.N355D	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	423							binding			breast(2)	2						AAGAAGATGTTGTTCCAGATG	0.622												
OR1A1	8383	broad.mit.edu	37	17	3119158	3119158	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:3119158C>T	uc010vrc.1	+	1	244	c.244C>T	c.(244-246)CTG>TTG	p.L82L		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	82	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CCCTAAGATGCTGGCCAACCA	0.458												
ATP2A3	489	broad.mit.edu	37	17	3844376	3844376	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:3844376G>A	uc002fxb.1	-	14	2140	c.1989C>T	c.(1987-1989)CCC>CCT	p.P663P	ATP2A3_uc002fwx.1_Silent_p.P663P|ATP2A3_uc002fwy.1_Silent_p.P663P|ATP2A3_uc002fwz.1_Silent_p.P663P|ATP2A3_uc002fxa.1_Silent_p.P663P|ATP2A3_uc002fxc.1_Silent_p.P663P|ATP2A3_uc002fxd.1_Silent_p.P663P	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	663	Cytoplasmic (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTGCTGCTCGGGGCTGAGGT	0.672												
SPNS3	201305	broad.mit.edu	37	17	4351594	4351594	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:4351594A>G	uc002fxt.2	+	6	810	c.766A>G	c.(766-768)AAA>GAA	p.K256E	SPNS3_uc002fxu.2_Missense_Mutation_p.K129E	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	256					lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1						ATACCTGGGGAAAAAGTGAGT	0.637												
GGT6	124975	broad.mit.edu	37	17	4461360	4461360	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:4461360C>T	uc002fyd.3	-	4	1492	c.1432G>A	c.(1432-1434)GCC>ACC	p.A478T	MYBBP1A_uc002fxz.3_5'Flank|MYBBP1A_uc002fyb.3_5'Flank|GGT6_uc010vsb.1_Missense_Mutation_p.A330T|GGT6_uc002fyc.3_Missense_Mutation_p.A446T|GGT6_uc010vsc.1_Missense_Mutation_p.A484T	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6 isoform a	478	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			skin(1)	1						GAGACATGGGCGTGCTCTGTG	0.622												
TM4SF5	9032	broad.mit.edu	37	17	4686165	4686165	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:4686165A>G	uc002fyw.1	+	4	443	c.412A>G	c.(412-414)AAC>GAC	p.N138D		NM_003963	NP_003954	O14894	T4S5_HUMAN	transmembrane 4 superfamily member 5	138	Extracellular (Potential).					integral to plasma membrane				ovary(1)	1						TTACTTGCTCAACCGCACTCT	0.662												
PLD2	5338	broad.mit.edu	37	17	4713005	4713005	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:4713005C>T	uc002fzc.2	+	8	735	c.634C>T	c.(634-636)CGC>TGC	p.R212C	PLD2_uc010vsj.1_Missense_Mutation_p.R69C|PLD2_uc002fzd.2_Missense_Mutation_p.R212C	NM_002663	NP_002654	O14939	PLD2_HUMAN	phospholipase D2	212	PH.			R -> C (in Ref. 3; AAB96656).	cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5					Choline(DB00122)	GATCCGGAAGCGCTCAGGTGG	0.627												
CHRNE	1145	broad.mit.edu	37	17	4802326	4802326	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:4802326C>A	uc002fzk.1	-	11	1307	c.1296G>T	c.(1294-1296)GAG>GAT	p.E432D	C17orf107_uc010ckr.2_5'Flank|C17orf107_uc002fzl.3_5'Flank	NM_000080	NP_000071	Q04844	ACHE_HUMAN	nicotinic acetylcholine receptor epsilon	432	Cytoplasmic (Potential).				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						CTCTCGTGCTCTCGGCCACGA	0.701												
RNF167	26001	broad.mit.edu	37	17	4846214	4846214	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:4846214G>A	uc002fzq.2	+	7	864	c.448G>A	c.(448-450)GCC>ACC	p.A150T	SLC25A11_uc002fzo.1_5'Flank|SLC25A11_uc002fzp.1_5'Flank|RNF167_uc002fzr.2_Missense_Mutation_p.A150T|RNF167_uc002fzs.2_Missense_Mutation_p.A150T|RNF167_uc002fzt.2_Missense_Mutation_p.A150T|RNF167_uc002fzu.2_Missense_Mutation_p.A150T|RNF167_uc002fzv.2_Missense_Mutation_p.A115T|RNF167_uc002fzw.1_Missense_Mutation_p.A115T|RNF167_uc002fzx.2_Missense_Mutation_p.A115T|RNF167_uc002fzy.2_5'Flank	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167 precursor	150	PA.				negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						GTACCTGCGTGCCCTCTTTGT	0.542												
KIF1C	10749	broad.mit.edu	37	17	4908175	4908175	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:4908175C>T	uc002gan.1	+	13	1371	c.1045C>T	c.(1045-1047)CGC>TGC	p.R349C		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	349					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						CAAGCAAATCCGCTGCAATGC	0.612												
PITPNM3	83394	broad.mit.edu	37	17	6377759	6377759	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:6377759C>T	uc002gdd.3	-	10	1402	c.1251G>A	c.(1249-1251)GGG>GGA	p.G417G	PITPNM3_uc010cln.2_Silent_p.G381G|PITPNM3_uc010clm.2_5'Flank|PITPNM3_uc002gdc.3_Silent_p.G8G	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	417	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TACCGTCCAGCCCAGGCAGCA	0.647												
PITPNM3	83394	broad.mit.edu	37	17	6381891	6381891	+	Silent	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:6381891A>C	uc002gdd.3	-	7	904	c.753T>G	c.(751-753)TCT>TCG	p.S251S	PITPNM3_uc010cln.2_Silent_p.S215S|PITPNM3_uc002gdc.3_5'UTR	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	251					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CAATCCCATCAGAGGACTTCA	0.627												
BCL6B	255877	broad.mit.edu	37	17	6927479	6927479	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:6927479C>T	uc002geg.2	+	3	314	c.257C>T	c.(256-258)GCG>GTG	p.A86V	BCL6B_uc010clt.1_Missense_Mutation_p.A86V	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	86	BTB.					nucleus	zinc ion binding			skin(1)	1						GGTCCCGAAGCGAGAGGCTTC	0.607												
BCL6B	255877	broad.mit.edu	37	17	6929846	6929846	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:6929846T>C	uc002geg.2	+	6	1017	c.960T>C	c.(958-960)GTT>GTC	p.V320V	BCL6B_uc010clt.1_Silent_p.V321V	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	320						nucleus	zinc ion binding			skin(1)	1						ACTCCTTGGTTCCTGGGGACG	0.562												
ASGR1	432	broad.mit.edu	37	17	7077550	7077550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7077550C>T	uc002ges.3	-	7	911	c.501G>A	c.(499-501)TGG>TGA	p.W167*	ASGR1_uc010clx.1_Nonsense_Mutation_p.W66*	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	167	Extracellular (Probable).|C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2						AGCGAGAGAACCAGTAGCAGC	0.672												
NEURL4	84461	broad.mit.edu	37	17	7225044	7225044	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7225044T>C	uc002gga.1	-	18	2941	c.2934A>G	c.(2932-2934)CTA>CTG	p.L978L	NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Silent_p.L976L|NEURL4_uc002ggc.1_Silent_p.L324L	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	978	NHR 5.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						CCCCCGGTGCTAGTGTGGTCA	0.617												
NEURL4	84461	broad.mit.edu	37	17	7228685	7228685	+	Missense_Mutation	SNP	G	G	A	rs146105515	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7228685G>A	uc002gga.1	-	8	1481	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C	NEURL4_uc002ggb.1_Missense_Mutation_p.R492C|NEURL4_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	492							protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						TTGTTTCGGCGGAGACGGTCA	0.642												
NLGN2	57555	broad.mit.edu	37	17	7320492	7320492	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7320492C>T	uc002ggt.1	+	7	1955	c.1882C>T	c.(1882-1884)CGC>TGC	p.R628C	FGF11_uc010vtw.1_5'Flank	NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	628	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)				CTACGCCACGCGCTGGCCGCC	0.761												
POLR2A	5430	broad.mit.edu	37	17	7412441	7412441	+	Missense_Mutation	SNP	A	A	C	rs79819463		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7412441A>C	uc002ghf.3	+	21	3878	c.3644A>C	c.(3643-3645)GAG>GCG	p.E1215A		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1215					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)				TTGCGGGTGGAGCTGGATCGG	0.557												
SENP3	26168	broad.mit.edu	37	17	7473750	7473750	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7473750T>C	uc002ghm.2	+	9	1691	c.1418T>C	c.(1417-1419)GTG>GCG	p.V473A	EIF4A1_uc002gho.1_5'UTR|EIF4A1_uc002ghr.1_5'Flank|EIF4A1_uc002ghq.1_5'Flank|EIF4A1_uc002ghp.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	473	Protease.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				TCTGTTGATGTGAGGCGACGC	0.532												
ATP1B2	482	broad.mit.edu	37	17	7557199	7557199	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7557199T>C	uc002gif.1	+	3	865	c.282T>C	c.(280-282)ATT>ATC	p.I94I		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Na+/K+ -ATPase beta 2 subunit	94	Extracellular (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|pancreas(1)	2		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TTGATGTCATTGTCAATGTCA	0.488												
DNAH2	146754	broad.mit.edu	37	17	7626991	7626991	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7626991A>T	uc002giu.1	+	2	226	c.212A>T	c.(211-213)GAG>GTG	p.E71V	DNAH2_uc002git.2_Missense_Mutation_p.E71V|DNAH2_uc010vuk.1_Missense_Mutation_p.E71V	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	71	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAATCAGTGGAGCCCGAGGCA	0.478												
DNAH2	146754	broad.mit.edu	37	17	7710878	7710878	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7710878G>A	uc002giu.1	+	62	9717	c.9703G>A	c.(9703-9705)GCT>ACT	p.A3235T	DNAH2_uc010cnm.1_Missense_Mutation_p.A173T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3235	Potential.|Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCCGCGCTCGCTGAGGCCCA	0.587												
CHD3	1107	broad.mit.edu	37	17	7797857	7797857	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7797857C>A	uc002gje.2	+	8	1350	c.1200C>A	c.(1198-1200)GCC>GCA	p.A400A	CHD3_uc002gjd.2_Silent_p.A459A|CHD3_uc002gjf.2_Silent_p.A400A|CHD3_uc002gjg.1_Silent_p.A228A	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	400	PHD-type 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GCCCTCGTGCCTACCACCTCG	0.577												
AURKB	9212	broad.mit.edu	37	17	8108544	8108544	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:8108544C>T	uc002gkm.2	-	8	912	c.851G>A	c.(850-852)CGC>CAC	p.R284H	AURKB_uc010cnu.2_Missense_Mutation_p.R104H|AURKB_uc002gkn.2_Missense_Mutation_p.R285H|AURKB_uc010vuu.1_Missense_Mutation_p.R243H|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	284	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(1)|central_nervous_system(1)	4						CTTGACGATGCGGCGATAGGT	0.592												
MYH10	4628	broad.mit.edu	37	17	8379141	8379141	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:8379141T>C	uc002gll.2	-	41	6008	c.5912A>G	c.(5911-5913)CAG>CGG	p.Q1971R	MYH10_uc002glm.2_Missense_Mutation_p.Q2002R|MYH10_uc010cnx.2_Missense_Mutation_p.Q1980R	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1971	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CTGGGGTGGCTGCGTCTCGTT	0.572												
STX8	9482	broad.mit.edu	37	17	9460769	9460769	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:9460769G>A	uc002glx.2	-	3	344	c.194C>T	c.(193-195)GCT>GTT	p.A65V		NM_004853	NP_004844	Q9UNK0	STX8_HUMAN	syntaxin 8	65	Cytoplasmic (Potential).|Potential.				transport	endoplasmic reticulum|integral to plasma membrane				central_nervous_system(1)	1						TGTTGACACAGCTCTTAGCAA	0.413												
USP43	124739	broad.mit.edu	37	17	9631302	9631302	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:9631302C>T	uc010cod.2	+	15	2367	c.2367C>T	c.(2365-2367)GGC>GGT	p.G789G	USP43_uc002gma.3_Silent_p.G478G|USP43_uc010vva.1_Silent_p.G784G|USP43_uc010coe.2_Silent_p.G586G|USP43_uc002gmc.3_Silent_p.G301G	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	789					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R789R(1)		ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TGGTACGGGGCGTGAAAGGCA	0.517												
GAS7	8522	broad.mit.edu	37	17	9850287	9850287	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:9850287G>A	uc002gmg.1	-	6	700	c.539C>T	c.(538-540)ACG>ATG	p.T180M	GAS7_uc010vvc.1_Translation_Start_Site|GAS7_uc002gmh.1_Missense_Mutation_p.T40M|GAS7_uc010vvd.1_Missense_Mutation_p.T132M|GAS7_uc002gmi.2_Missense_Mutation_p.T116M|GAS7_uc002gmj.1_Missense_Mutation_p.T120M|GAS7_uc010coh.1_Missense_Mutation_p.T120M	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	180					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GTGAGGGAACGTCACACAGTT	0.572			T	MLL	AML*							
MYH8	4626	broad.mit.edu	37	17	10299956	10299956	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:10299956C>T	uc002gmm.2	-	32	4537	c.4442G>A	c.(4441-4443)AGC>AAC	p.S1481N	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1481	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						CAGCTCAGTGCTAAGAGAACG	0.443									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
MYH4	4622	broad.mit.edu	37	17	10355562	10355562	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:10355562C>T	uc002gmn.2	-	27	3545	c.3434G>A	c.(3433-3435)CGG>CAG	p.R1145Q	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1145	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						CTCCAGCTCCCGGGAGAGGTC	0.592												
MYH4	4622	broad.mit.edu	37	17	10363367	10363367	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:10363367G>T	uc002gmn.2	-	14	1429	c.1318C>A	c.(1318-1320)CTG>ATG	p.L440M	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	440	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						ACCATCCACAGGAACATCTTC	0.468												
MYH3	4621	broad.mit.edu	37	17	10546157	10546157	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:10546157C>T	uc002gmq.1	-	14	1644	c.1567G>A	c.(1567-1569)GAG>AAG	p.E523K		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	523	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TCGATGAGCTCGATGCAGGCA	0.507												
HS3ST3B1	9953	broad.mit.edu	37	17	14205042	14205042	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:14205042C>T	uc002goh.1	+	1	537	c.207C>T	c.(205-207)CGC>CGT	p.R69R	MGC12916_uc010vvv.1_5'Flank	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	69	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CTGGGTCCCGCGCCGCACACG	0.731												
PIGL	9487	broad.mit.edu	37	17	16120706	16120706	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:16120706T>A	uc002gpv.2	+	1	198	c.166T>A	c.(166-168)TTT>ATT	p.F56I	NCOR1_uc002gpo.2_5'Flank|PIGL_uc010vwd.1_Missense_Mutation_p.F56I|NCOR1_uc002gps.1_5'Flank|NCOR1_uc010coz.1_5'Flank|NCOR1_uc010cpb.1_5'Flank|NCOR1_uc010cpa.1_5'Flank|NCOR1_uc002gpu.2_5'Flank	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	56	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)		TGAAGCCATGTTTTTTGCTCC	0.607												
MPRIP	23164	broad.mit.edu	37	17	17061916	17061916	+	Missense_Mutation	SNP	G	G	A	rs149009201	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:17061916G>A	uc002gqu.1	+	14	1702	c.1646G>A	c.(1645-1647)CGT>CAT	p.R549H	MPRIP_uc002gqv.1_Missense_Mutation_p.R549H|MPRIP_uc002gqw.1_Missense_Mutation_p.R304H	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	549	Interaction with RHOA.					cytoplasm|cytoskeleton	actin binding				0						GCTGAGTTCCGTCCCATCCAG	0.721												
RAI1	10743	broad.mit.edu	37	17	17698232	17698232	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:17698232C>T	uc002grm.2	+	3	2439	c.1970C>T	c.(1969-1971)GCG>GTG	p.A657V	RAI1_uc002grn.1_Missense_Mutation_p.A657V	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	657						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCCAAGAGTGCGTGGCCCCGG	0.647												
SREBF1	6720	broad.mit.edu	37	17	17722388	17722388	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:17722388C>T	uc002gru.1	-	5	1201	c.1007G>A	c.(1006-1008)CGC>CAC	p.R336H	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_Missense_Mutation_p.R82H|SREBF1_uc002grs.1_Missense_Mutation_p.R312H|SREBF1_uc002grt.1_Missense_Mutation_p.R366H|SREBF1_uc010cpp.1_Missense_Mutation_p.R312H|SREBF1_uc010cpq.1_Missense_Mutation_p.R336H	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	336	Cytoplasmic (Potential).|Basic motif.|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						GATGGAGGAGCGGTAGCGCTT	0.622												
SREBF1	6720	broad.mit.edu	37	17	17723598	17723598	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:17723598T>C	uc002gru.1	-	2	523	c.329A>G	c.(328-330)TAC>TGC	p.Y110C	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Missense_Mutation_p.Y86C|SREBF1_uc002grt.1_Missense_Mutation_p.Y140C|SREBF1_uc010cpp.1_Missense_Mutation_p.Y86C|SREBF1_uc010cpq.1_Missense_Mutation_p.Y110C	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	110	Pro/Ser-rich.|Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CATGGACGGGTACATCTTCAA	0.652												
MYO15A	51168	broad.mit.edu	37	17	18043861	18043861	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:18043861C>A	uc010vxh.1	+	19	5580	c.5242C>A	c.(5242-5244)CCA>ACA	p.P1748T		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1748	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CAGCCATGCCCCACAGGCTGC	0.637											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FLII	2314	broad.mit.edu	37	17	18156768	18156768	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:18156768G>A	uc002gsr.1	-	9	911	c.860C>T	c.(859-861)GCC>GTC	p.A287V	FLII_uc002gsq.1_Missense_Mutation_p.A159V|FLII_uc010cpy.1_Missense_Mutation_p.A276V|FLII_uc010vxn.1_Missense_Mutation_p.A256V|FLII_uc010vxo.1_Missense_Mutation_p.A233V|FLII_uc002gss.1_Missense_Mutation_p.A287V	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	287	LRR 12.|Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					CTTGCAAATGGCTGACTGGAG	0.612												
PRPSAP2	5636	broad.mit.edu	37	17	18832189	18832189	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:18832189A>G	uc002gup.1	+	11	1081	c.870A>G	c.(868-870)GCA>GCG	p.A290A	PRPSAP2_uc002guo.1_Silent_p.A204A|PRPSAP2_uc010vyi.1_Silent_p.A238A|PRPSAP2_uc010vyj.1_Silent_p.A204A|PRPSAP2_uc010vyk.1_Intron|PRPSAP2_uc002guq.1_Silent_p.A77A	NM_002767	NP_002758	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate	290					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			skin(1)	1						AAAGAGGTGCATATAAGATCT	0.478												
ALDH3A1	218	broad.mit.edu	37	17	19645402	19645402	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:19645402T>C	uc010cqu.2	-	4	934	c.604A>G	c.(604-606)AAG>GAG	p.K202E	ALDH3A1_uc010vzd.1_Missense_Mutation_p.K202E|ALDH3A1_uc002gwj.2_Missense_Mutation_p.K202E|ALDH3A1_uc010cqv.2_Missense_Mutation_p.K202E|ALDH3A1_uc002gwk.2_Missense_Mutation_p.K319E|ALDH3A1_uc002gwl.1_Missense_Mutation_p.K129E	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	202					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GTCAGGTGCTTGGCAGCAGCC	0.632												
NLK	51701	broad.mit.edu	37	17	26370248	26370248	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:26370248G>A	uc010crj.2	+	1	561	c.349G>A	c.(349-351)GCA>ACA	p.A117T	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	117	Poly-Ala.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACAGGCTGCCGCAGCTGCTAC	0.572												
SPAG5	10615	broad.mit.edu	37	17	26906497	26906497	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:26906497G>T	uc002hbq.2	-	18	2983	c.2891C>A	c.(2890-2892)CCA>CAA	p.P964Q	ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	964					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					CTCCATGCCTGGGGTCTCTGA	0.483												
KIAA0100	9703	broad.mit.edu	37	17	26959181	26959181	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:26959181A>G	uc002hbu.2	-	21	3981	c.3882T>C	c.(3880-3882)AGT>AGC	p.S1294S		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1294						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GCCTTGTGACACTTGTCCAAG	0.463												
SUPT6H	6830	broad.mit.edu	37	17	27013703	27013703	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:27013703C>T	uc002hby.2	+	21	2686	c.2596C>T	c.(2596-2598)CGC>TGC	p.R866C	SUPT6H_uc010crt.2_Missense_Mutation_p.R866C|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	866					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)					AGATGTGAAGCGCATTGTACA	0.493												
RAB34	83871	broad.mit.edu	37	17	27043061	27043061	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:27043061C>A	uc002hce.2	-	3	786	c.162G>T	c.(160-162)AAG>AAT	p.K54N	RAB34_uc002hcg.2_Missense_Mutation_p.K54N|RAB34_uc002hcf.2_Missense_Mutation_p.K55N|RAB34_uc010was.1_Missense_Mutation_p.K111N|RAB34_uc010wat.1_Missense_Mutation_p.K111N|RAB34_uc002hch.2_Missense_Mutation_p.K54N|RAB34_uc010wau.1_Intron|RAB34_uc010wav.1_Missense_Mutation_p.K112N	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	54					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					CCACAATGACCTTGGAGATCT	0.572												
PHF12	57649	broad.mit.edu	37	17	27234620	27234620	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:27234620T>C	uc002hdg.1	-	13	3059	c.2529A>G	c.(2527-2529)ATA>ATG	p.I843M	PHF12_uc010wbb.1_Missense_Mutation_p.I825M	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	843	FHA.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CATCGTAGAATATGCAGGCAT	0.547												
PIPOX	51268	broad.mit.edu	37	17	27380463	27380463	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:27380463T>C	uc002hdr.1	+	4	836	c.510T>C	c.(508-510)CGT>CGC	p.R170R		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	170					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GCATAGTGCGTGACGGAGAGA	0.532												
SSH2	85464	broad.mit.edu	37	17	27957940	27957940	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:27957940G>A	uc002heo.1	-	15	4191	c.4191C>T	c.(4189-4191)CAC>CAT	p.H1397H	SSH2_uc010wbh.1_Silent_p.H1424H	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1397					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						GAGTTCTGCCGTGTTGCTGAC	0.532												
SSH2	85464	broad.mit.edu	37	17	27963136	27963136	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:27963136C>A	uc002heo.1	-	14	2031	c.2031G>T	c.(2029-2031)GAG>GAT	p.E677D	SSH2_uc010wbh.1_Missense_Mutation_p.E704D	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	677					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						CACCCAGTTCCTCCATCCTTG	0.478												
BLMH	642	broad.mit.edu	37	17	28601209	28601209	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:28601209G>A	uc002hez.1	-	7	889	c.652C>T	c.(652-654)CGA>TGA	p.R218*	BLMH_uc010wbn.1_Nonsense_Mutation_p.R131*	NM_000386	NP_000377	Q13867	BLMH_HUMAN	bleomycin hydrolase	218					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			ovary(1)	1						CACACCACTCGGAATATCTGG	0.413												
CPD	1362	broad.mit.edu	37	17	28772965	28772965	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:28772965C>A	uc002hfb.1	+	12	2815	c.2800C>A	c.(2800-2802)CAT>AAT	p.H934N	CPD_uc010wbo.1_Missense_Mutation_p.H687N|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	934	Extracellular (Potential).|Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						TTATCGATACCATTCCTACAA	0.373												
ATAD5	79915	broad.mit.edu	37	17	29161690	29161690	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:29161690C>A	uc002hfs.1	+	2	937	c.591C>A	c.(589-591)ACC>ACA	p.T197T	ATAD5_uc002hft.1_Silent_p.T94T	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	197					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AACAAGGGACCACAAAAAATG	0.338												
NF1	4763	broad.mit.edu	37	17	29654857	29654857	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:29654857G>A	uc002hgg.2	+	38	5942	c.5609G>A	c.(5608-5610)CGG>CAG	p.R1870Q	NF1_uc002hgh.2_Missense_Mutation_p.R1849Q|NF1_uc002hgi.1_Missense_Mutation_p.R882Q|NF1_uc010cso.2_Missense_Mutation_p.R58Q	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1870					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.S1871fs*13(1)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCGAGTTTACGGTAGGTTTTT	0.378			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
MYO1D	4642	broad.mit.edu	37	17	30980865	30980865	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:30980865C>T	uc002hho.1	-	19	2603	c.2591G>A	c.(2590-2592)CGT>CAT	p.R864H	MYO1D_uc002hhp.1_Missense_Mutation_p.R864H	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	864						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CCTTACCTTACGGACGTGACA	0.413												
C17orf102	400591	broad.mit.edu	37	17	32905984	32905984	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:32905984C>T	uc002hie.1	-	1	405	c.316G>A	c.(316-318)GCG>ACG	p.A106T	TMEM132E_uc002hif.2_5'Flank	NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN	hypothetical protein LOC400591	106										ovary(1)	1						ACCCATCCCGCACGAAGCTGA	0.632												
TMEM132E	124842	broad.mit.edu	37	17	32955600	32955600	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:32955600T>C	uc002hif.2	+	4	1075	c.747T>C	c.(745-747)GGT>GGC	p.G249G		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	249	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCAAGAAGGGTGTGACCCTTT	0.587												
NLE1	54475	broad.mit.edu	37	17	33460365	33460365	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:33460365G>A	uc002hiy.1	-	11	1395	c.1367C>T	c.(1366-1368)GCG>GTG	p.A456V	NLE1_uc010ctn.1_Missense_Mutation_p.A164V|NLE1_uc002hiz.1_Missense_Mutation_p.A164V	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	456	WD 8.					nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)				TACCTCATCCGCGTGGCCGGG	0.642												
UNC45B	146862	broad.mit.edu	37	17	33496901	33496901	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:33496901A>G	uc002hja.2	+	11	1595	c.1498A>G	c.(1498-1500)AGG>GGG	p.R500G	UNC45B_uc002hjb.2_Missense_Mutation_p.R500G|UNC45B_uc002hjc.2_Missense_Mutation_p.R500G|UNC45B_uc010cto.2_Intron	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	500					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				CTACGGTCTCAGGCAGTTTGC	0.582												
SLFN13	146857	broad.mit.edu	37	17	33767971	33767971	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:33767971A>G	uc002hjk.1	-	4	2667	c.2337T>C	c.(2335-2337)ATT>ATC	p.I779I	SLFN13_uc010wch.1_Silent_p.I779I|SLFN13_uc002hjl.2_Silent_p.I779I|SLFN13_uc010ctt.2_Silent_p.I461I|SLFN13_uc002hjm.2_Silent_p.I448I	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	schlafen family member 13	779						intracellular	ATP binding			ovary(1)|breast(1)	2				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGTTTTTAATAATCTTTGTGT	0.413												
AP2B1	163	broad.mit.edu	37	17	33998845	33998845	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:33998845A>C	uc002hjr.2	+	15	2251	c.2062A>C	c.(2062-2064)AGT>CGT	p.S688R	AP2B1_uc002hjq.2_Missense_Mutation_p.S702R|AP2B1_uc010wci.1_Missense_Mutation_p.S664R|AP2B1_uc002hjs.2_Missense_Mutation_p.S631R|AP2B1_uc002hjt.2_Missense_Mutation_p.S702R|AP2B1_uc010ctv.2_Missense_Mutation_p.S702R|AP2B1_uc010wcj.1_Missense_Mutation_p.S439R	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	688	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGTGGTCAGCAGTGGACTGAA	0.493												
RASL10B	91608	broad.mit.edu	37	17	34068074	34068074	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:34068074C>T	uc002hju.2	+	4	728	c.362C>T	c.(361-363)ACG>ATG	p.T121M		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B precursor	121	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			lung(2)|breast(2)	4				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCTCAGAGACGCCCATCATC	0.657												
MMP28	79148	broad.mit.edu	37	17	34095247	34095247	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:34095247A>G	uc002hjy.1	-	8	1259	c.1000_splice	c.e8+1	p.D334_splice	MMP28_uc002hjw.1_Splice_Site|MMP28_uc002hjz.1_Splice_Site	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1						proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGACCTTCTTACCTACAGTGA	0.527												
MYO19	80179	broad.mit.edu	37	17	34871799	34871799	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:34871799G>T	uc010wcy.1	-	8	1441	c.449C>A	c.(448-450)GCT>GAT	p.A150D	MYO19_uc002hmw.2_Missense_Mutation_p.A150D|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA|MYO19_uc010wda.1_Missense_Mutation_p.A16D|MYO19_uc002hmx.2_Missense_Mutation_p.A150D	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	150	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCCACCACAGCATAGAACTT	0.537												
AATF	26574	broad.mit.edu	37	17	35307639	35307639	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:35307639G>A	uc002hni.2	+	2	468	c.217G>A	c.(217-219)GGC>AGC	p.G73S	AATF_uc002hnj.2_RNA	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	73					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)				AAGGTATTGCGGCAAAACCAC	0.468												
ACACA	31	broad.mit.edu	37	17	35620760	35620760	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:35620760A>G	uc002hnm.2	-	11	1237	c.1046T>C	c.(1045-1047)ATG>ACG	p.M349T	ACACA_uc002hnk.2_Missense_Mutation_p.M271T|ACACA_uc002hnl.2_Missense_Mutation_p.M291T|ACACA_uc002hnn.2_Missense_Mutation_p.M349T|ACACA_uc002hno.2_Missense_Mutation_p.M386T|ACACA_uc010cuz.2_Missense_Mutation_p.M349T	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	349	Biotin carboxylation.|ATP-grasp.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGCTAGTCTCATCACAAATAT	0.388												
GPR179	440435	broad.mit.edu	37	17	36499264	36499264	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:36499264C>T	uc002hpz.2	-	1	430	c.409G>A	c.(409-411)GTG>ATG	p.V137M		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	137	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCTCGGCCACGCTGCGGACC	0.622												
SRCIN1	80725	broad.mit.edu	37	17	36705305	36705305	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:36705305G>A	uc002hqd.2	-	16	3329	c.3104C>T	c.(3103-3105)TCG>TTG	p.S1035L	SRCIN1_uc002hqf.1_Missense_Mutation_p.S907L|SRCIN1_uc002hqe.2_Missense_Mutation_p.S889L	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	907					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						GATGAAGGCCGAGTCCTTCTT	0.632												
RPL23	9349	broad.mit.edu	37	17	37009328	37009328	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:37009328C>T	uc002hqx.1	-	2	134	c.44G>A	c.(43-45)CGG>CAG	p.R15Q	RPL23_uc002hqw.1_5'UTR|RPL23_uc002hqy.1_Missense_Mutation_p.R15Q|SNORA21_uc002hqz.1_5'Flank	NM_000978	NP_000969	P62829	RL23_HUMAN	ribosomal protein L23	15					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome				0						CAAGGAAATCCGGAATTTCGC	0.483												
CACNB1	782	broad.mit.edu	37	17	37341052	37341052	+	Silent	SNP	C	C	T	rs141549614		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:37341052C>T	uc002hrm.1	-	8	867	c.714G>A	c.(712-714)TCG>TCA	p.S238S	CACNB1_uc002hrl.1_Silent_p.S10S|CACNB1_uc002hrn.2_Silent_p.S238S|CACNB1_uc002hro.2_Silent_p.S283S|CACNB1_uc002hrp.1_3'UTR	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	238					axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	AGCCCTTGAGCGACGGTCCCA	0.607												
NEUROD2	4761	broad.mit.edu	37	17	37762007	37762007	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:37762007G>A	uc002hry.2	-	2	1046	c.846C>T	c.(844-846)GGC>GGT	p.G282G		NM_006160	NP_006151	Q15784	NDF2_HUMAN	neurogenic differentiation 2	282	Poly-Gly.				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			CGCCGCCACCGCCTGCCGCCG	0.567												
GRB7	2886	broad.mit.edu	37	17	37900454	37900454	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:37900454C>A	uc002hsr.2	+	7	1045	c.795C>A	c.(793-795)ACC>ACA	p.T265T	GRB7_uc002hss.2_Silent_p.T265T|GRB7_uc010cwc.2_Silent_p.T265T|GRB7_uc002hst.2_Silent_p.T265T	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	265	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCAAGGGCACCTCTAAGGTAA	0.572												
IKZF3	22806	broad.mit.edu	37	17	37922387	37922387	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:37922387G>A	uc002hsu.2	-	8	1248	c.1186C>T	c.(1186-1188)CGC>TGC	p.R396C	IKZF3_uc002htd.2_Missense_Mutation_p.R362C|IKZF3_uc010cwd.2_Missense_Mutation_p.R253C|IKZF3_uc002hsv.2_Missense_Mutation_p.R323C|IKZF3_uc010cwe.2_Missense_Mutation_p.R262C|IKZF3_uc010cwf.2_Missense_Mutation_p.R214C|IKZF3_uc010cwg.2_Missense_Mutation_p.R175C|IKZF3_uc002hsw.2_Missense_Mutation_p.R357C|IKZF3_uc002hsx.2_Missense_Mutation_p.R340C|IKZF3_uc002hsy.2_Missense_Mutation_p.R357C|IKZF3_uc002hsz.2_Missense_Mutation_p.R301C|IKZF3_uc002hta.2_Missense_Mutation_p.R318C|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.R309C|IKZF3_uc002htc.2_Missense_Mutation_p.R149C|IKZF3_uc010wel.1_Missense_Mutation_p.R149C	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	396					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGATTCTGGCGTTCTTCATGG	0.537												
GSDMB	55876	broad.mit.edu	37	17	38062138	38062138	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:38062138C>T	uc010cwj.2	-	8	994	c.989G>A	c.(988-990)CGT>CAT	p.R330H	GSDMB_uc010cwi.2_Missense_Mutation_p.R77H|GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Missense_Mutation_p.R308H|GSDMB_uc002hth.2_Missense_Mutation_p.R317H|GSDMB_uc010wem.1_Missense_Mutation_p.R321H	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN	gasdermin B isoform 1	325						cytoplasm				breast(1)|pancreas(1)	2						GGCTTTTGCACGCGCTTCTAC	0.567												
KRTAP4-5	85289	broad.mit.edu	37	17	39305582	39305582	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:39305582G>A	uc002hwb.2	-	1	473	c.438C>T	c.(436-438)TGC>TGT	p.C146C		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	151	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].|27.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGACGCACgcagcagcagg	0.378												
ACLY	47	broad.mit.edu	37	17	40054009	40054009	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:40054009C>T	uc002hyg.2	-	13	1585	c.1422G>A	c.(1420-1422)ATG>ATA	p.M474I	ACLY_uc002hyh.2_Missense_Mutation_p.M474I|ACLY_uc002hyi.2_Missense_Mutation_p.M528I|ACLY_uc010wfx.1_Missense_Mutation_p.M528I|ACLY_uc010wfy.1_Missense_Mutation_p.M213I	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	474					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				TACCTTGTGGCATGGCAGGCT	0.602												
KCNH4	23415	broad.mit.edu	37	17	40327731	40327731	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:40327731T>C	uc002hzb.2	-	6	1186	c.853A>G	c.(853-855)ACC>GCC	p.T285A		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	285	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACACATAGGTGGTGCGGAAG	0.552												
AOC2	314	broad.mit.edu	37	17	41001152	41001152	+	Silent	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:41001152T>G	uc002ibu.2	+	2	1673	c.1638T>G	c.(1636-1638)GCT>GCG	p.A546A	AOC2_uc002ibt.2_Silent_p.A546A|AOC3_uc002ibv.2_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	546					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AACCTGTGGCTGCCCCCTGGA	0.592												
BRCA1	672	broad.mit.edu	37	17	41219626	41219626	+	Silent	SNP	T	T	G	rs80356853		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:41219626T>G	uc002icq.2	-	16	5305	c.5073A>C	c.(5071-5073)ACA>ACC	p.T1691T	BRCA1_uc010whp.1_Silent_p.T540T|BRCA1_uc010whl.1_Silent_p.T587T|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.T1620T|BRCA1_uc002icu.2_Silent_p.T587T|BRCA1_uc010cyx.2_Silent_p.T1644T|BRCA1_uc002ict.2_Silent_p.T1712T|BRCA1_uc010whn.1_Silent_p.T182T|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Silent_p.T420T|BRCA1_uc002idc.1_Silent_p.T587T|BRCA1_uc010whr.1_Silent_p.T541T	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1691	BRCT 1.				androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTGGTATACCTGTTTTCATAA	0.274			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)		
DHX8	1659	broad.mit.edu	37	17	41570312	41570312	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:41570312G>A	uc002idu.1	+	6	840	c.767G>A	c.(766-768)CGC>CAC	p.R256H	DHX8_uc010wif.1_Missense_Mutation_p.R165H|DHX8_uc010wig.1_Missense_Mutation_p.R256H	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	256						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CATGTGGACCGCCCTCCTCCA	0.527												
ATXN7L3	56970	broad.mit.edu	37	17	42275016	42275016	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:42275016C>T	uc002iga.2	-	2	225	c.134G>A	c.(133-135)TGT>TAT	p.C45Y	ATXN7L3_uc010wiv.1_5'Flank|ATXN7L3_uc002ifz.2_Missense_Mutation_p.C45Y	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	45					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)		GAAGTAGCCACACTTGACAGC	0.567												
EFTUD2	9343	broad.mit.edu	37	17	42928721	42928721	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:42928721A>G	uc002ihn.2	-	28	3101	c.2840T>C	c.(2839-2841)GTG>GCG	p.V947A	EFTUD2_uc010wje.1_Missense_Mutation_p.V912A|EFTUD2_uc010wjf.1_Missense_Mutation_p.V937A	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	947						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				GCTGATGCTCACATCTTCACT	0.507												
EFTUD2	9343	broad.mit.edu	37	17	42942396	42942396	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:42942396A>C	uc002ihn.2	-	14	1448	c.1187T>G	c.(1186-1188)CTA>CGA	p.L396R	EFTUD2_uc010wje.1_Missense_Mutation_p.L361R|EFTUD2_uc010wjf.1_Missense_Mutation_p.L386R	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain	396						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				AAGCTCGTCTAGGGTCCGTGG	0.562											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FMNL1	752	broad.mit.edu	37	17	43318961	43318961	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:43318961T>C	uc002iin.2	+	14	1745	c.1545T>C	c.(1543-1545)GAT>GAC	p.D515D	FMNL1_uc002iiq.2_Silent_p.D93D|FMNL1_uc010dag.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	515	Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GCGGCGGTGATGCTCCGACTC	0.701												
PLEKHM1	9842	broad.mit.edu	37	17	43531269	43531269	+	Missense_Mutation	SNP	G	G	A	rs148973891		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:43531269G>A	uc002ija.2	-	7	2119	c.1949C>T	c.(1948-1950)GCG>GTG	p.A650V	PLEKHM1_uc010wjm.1_Missense_Mutation_p.A622V|PLEKHM1_uc002ijb.2_Missense_Mutation_p.A125V|PLEKHM1_uc010wjn.1_Missense_Mutation_p.A599V|PLEKHM1_uc002ijc.2_Missense_Mutation_p.A104V	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	650					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					GCCCTGGGGCGCCTCGGGGGG	0.682												
OSBPL7	114881	broad.mit.edu	37	17	45890696	45890696	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:45890696G>T	uc002ilx.1	-	16	1876	c.1673C>A	c.(1672-1674)CCT>CAT	p.P558H	OSBPL7_uc002ilw.1_Missense_Mutation_p.P120H	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	oxysterol-binding protein-like protein 7	558					lipid transport		lipid binding				0						CCCCAGGACAGGGTTGAAGGG	0.622												
IGF2BP1	10642	broad.mit.edu	37	17	47075284	47075284	+	Splice_Site	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:47075284T>C	uc002iom.2	+	1	509	c.175_splice	c.e1+2	p.G59_splice	IGF2BP1_uc010dbj.2_Splice_Site_p.G59_splice	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding						CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						CTTTCTCCGGTAAGAACACAG	0.607												
NXPH3	11248	broad.mit.edu	37	17	47656635	47656635	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:47656635T>C	uc002ipa.2	+	2	1016	c.732T>C	c.(730-732)AGT>AGC	p.S244S	NXPH3_uc010wlw.1_Intron	NM_007225	NP_009156	O95157	NXPH3_HUMAN	neurexophilin 3 precursor	244	V (Cys-rich).				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)					ACTACCATAGTGATACCCCCT	0.597												
COL1A1	1277	broad.mit.edu	37	17	48272975	48272975	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48272975G>A	uc002iqm.2	-	17	1234	c.1108C>T	c.(1108-1110)CGT>TGT	p.R370C		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	370	Triple-helical region.			R -> L (in Ref. 6; AAB59373).	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)	GGCTCACCACGCACACCCTGG	0.612			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LRRC59	55379	broad.mit.edu	37	17	48474629	48474629	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48474629C>T	uc002iqt.2	-	1	204	c.50G>A	c.(49-51)GGC>GAC	p.G17D		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	17	Cytoplasmic (Potential).|LRR 1.					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			central_nervous_system(1)	1	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CAGTTCGTTGCCGTCCAGCTT	0.692											OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RSAD1	55316	broad.mit.edu	37	17	48561838	48561838	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48561838G>T	uc002iqw.1	+	8	1199	c.1143G>T	c.(1141-1143)TGG>TGT	p.W381C	RSAD1_uc010wmq.1_RNA	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing	381					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGACCCTGTGGGATGTGTTTG	0.647												
MYCBPAP	84073	broad.mit.edu	37	17	48603347	48603347	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48603347G>A	uc010wmr.1	+	14	2179	c.2017G>A	c.(2017-2019)GTC>ATC	p.V673I	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	636					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAAGGAGCACGTCAGCCCCAT	0.597												
SPATA20	64847	broad.mit.edu	37	17	48628211	48628211	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48628211T>C	uc002irf.2	+	10	1409	c.1268T>C	c.(1267-1269)CTG>CCG	p.L423P	SPATA20_uc002irc.2_Missense_Mutation_p.L90P|SPATA20_uc002ire.2_Missense_Mutation_p.L379P|SPATA20_uc002ird.2_Missense_Mutation_p.L439P|SPATA20_uc010wmv.1_3'UTR|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	423					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ACCGAGCCGCTGACCTCAGGC	0.642											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CACNA1G	8913	broad.mit.edu	37	17	48696047	48696047	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48696047C>T	uc002irk.1	+	33	5831	c.5459C>T	c.(5458-5460)ACC>ATC	p.T1820I	CACNA1G_uc002irj.1_Missense_Mutation_p.T1786I|CACNA1G_uc002irl.1_Missense_Mutation_p.T1797I|CACNA1G_uc002irm.1_Missense_Mutation_p.T1786I|CACNA1G_uc002irn.1_Missense_Mutation_p.T1779I|CACNA1G_uc002iro.1_Missense_Mutation_p.T1786I|CACNA1G_uc002irp.1_Missense_Mutation_p.T1820I|CACNA1G_uc002irq.1_Missense_Mutation_p.T1797I|CACNA1G_uc002irr.1_Missense_Mutation_p.T1820I|CACNA1G_uc002irs.1_Missense_Mutation_p.T1809I|CACNA1G_uc002irt.1_Missense_Mutation_p.T1802I|CACNA1G_uc002irv.1_Missense_Mutation_p.T1809I|CACNA1G_uc002irw.1_Missense_Mutation_p.T1797I|CACNA1G_uc002iru.1_Missense_Mutation_p.T1786I|CACNA1G_uc002irx.1_Missense_Mutation_p.T1733I|CACNA1G_uc002iry.1_Missense_Mutation_p.T1722I|CACNA1G_uc002irz.1_Missense_Mutation_p.T1726I|CACNA1G_uc002isa.1_Missense_Mutation_p.T1699I|CACNA1G_uc002isb.1_Missense_Mutation_p.T1740I|CACNA1G_uc002isc.1_Missense_Mutation_p.T1722I|CACNA1G_uc002isd.1_Missense_Mutation_p.T1708I|CACNA1G_uc002ise.1_Missense_Mutation_p.T1688I|CACNA1G_uc002isf.1_Missense_Mutation_p.T1715I|CACNA1G_uc002isg.1_Missense_Mutation_p.T1681I|CACNA1G_uc002ish.1_Missense_Mutation_p.T1688I|CACNA1G_uc002isi.1_Missense_Mutation_p.T1676I	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1820	IV.|Extracellular (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)	CAGGAGTCCACCTGCTACAAC	0.572												
CACNA1G	8913	broad.mit.edu	37	17	48697164	48697164	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48697164A>G	uc002irk.1	+	34	6274	c.5902A>G	c.(5902-5904)AGC>GGC	p.S1968G	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Missense_Mutation_p.S1934G|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Missense_Mutation_p.S1968G|CACNA1G_uc002irq.1_Missense_Mutation_p.S1945G|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Missense_Mutation_p.S1957G|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002iru.1_Missense_Mutation_p.S1934G|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Missense_Mutation_p.S1870G|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Missense_Mutation_p.S1836G|CACNA1G_uc002isf.1_Missense_Mutation_p.S1863G|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1968	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)	TTCTGCCCCCAGCCTGGGAGG	0.667												
TEX14	56155	broad.mit.edu	37	17	56663224	56663224	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:56663224G>A	uc010dcz.1	-	18	3144	c.3026C>T	c.(3025-3027)ACG>ATG	p.T1009M	TEX14_uc002iwr.1_Missense_Mutation_p.T1003M|TEX14_uc002iws.1_Missense_Mutation_p.T1003M|TEX14_uc010dda.1_Missense_Mutation_p.T783M	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	1009						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATTGTTGCCCGTCTTGTCAAA	0.502												
TEX14	56155	broad.mit.edu	37	17	56699126	56699126	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:56699126A>G	uc010dcz.1	-	5	557	c.439T>C	c.(439-441)TGT>CGT	p.C147R	TEX14_uc002iwr.1_Missense_Mutation_p.C147R|TEX14_uc002iws.1_Missense_Mutation_p.C147R|TEX14_uc010dda.1_5'UTR	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	147						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGAGGCACAGCGCTGCATG	0.552												
C17orf71	55181	broad.mit.edu	37	17	57292310	57292310	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:57292310C>T	uc002ixi.2	+	4	2965	c.2923C>T	c.(2923-2925)CAG>TAG	p.Q975*		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	975					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GGAAAATGTGCAGTTAATGAG	0.433												
BCAS3	54828	broad.mit.edu	37	17	58756883	58756883	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:58756883T>C	uc002iyv.3	+	2	174	c.65T>C	c.(64-66)GTT>GCT	p.V22A	BCAS3_uc010wow.1_Missense_Mutation_p.V18A|BCAS3_uc002iyu.3_Missense_Mutation_p.V22A|BCAS3_uc002iyw.3_Missense_Mutation_p.V18A	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	22						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GGAGTTGTGGTTCGCCCCCAG	0.378												
NACA2	342538	broad.mit.edu	37	17	59668209	59668209	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:59668209G>A	uc002izj.2	-	1	359	c.333C>T	c.(331-333)GTC>GTT	p.V111V		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	nascent-polypeptide-associated complex alpha	111	NAC-A/B.				protein transport	cytoplasm|nucleus				ovary(1)	1	all_epithelial(1;3.12e-14)					GGCTCTTGTAGACGTCCAGTT	0.443												
INTS2	57508	broad.mit.edu	37	17	59949820	59949820	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:59949820A>G	uc002izn.2	-	20	2684	c.2608T>C	c.(2608-2610)TGC>CGC	p.C870R	INTS2_uc002izm.2_Missense_Mutation_p.C862R	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	870					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						AGTGGGGGGCATCTAAACAAG	0.343												
MED13	9969	broad.mit.edu	37	17	60060188	60060188	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:60060188G>T	uc002izo.2	-	16	3253	c.3176C>A	c.(3175-3177)CCT>CAT	p.P1059H		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1059					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			large_intestine(1)|ovary(1)	2						GACAGTTGCAGGTTCAACAGA	0.403												
MRC2	9902	broad.mit.edu	37	17	60757801	60757801	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:60757801C>T	uc002jad.2	+	16	2862	c.2460C>T	c.(2458-2460)GAC>GAT	p.D820D	MRC2_uc002jae.2_5'Flank|MRC2_uc002jaf.2_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	820	Extracellular (Potential).				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GGGAGCCCGACGACAGCCCTC	0.627												
TANC2	26115	broad.mit.edu	37	17	61499114	61499114	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:61499114G>A	uc002jal.3	+	25	5794	c.5771G>A	c.(5770-5772)GGG>GAG	p.G1924E	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.G1035E	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1924							binding			ovary(2)	2						AGCCCCCATGGGATGCTGGCT	0.527												
KCNH6	81033	broad.mit.edu	37	17	61622452	61622452	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:61622452G>A	uc002jay.2	+	13	2598	c.2518G>A	c.(2518-2520)GTG>ATG	p.V840M	KCNH6_uc010wpl.1_Missense_Mutation_p.V681M|KCNH6_uc010wpm.1_Missense_Mutation_p.V804M|KCNH6_uc002jaz.1_Missense_Mutation_p.V751M	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	840	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	GGAGTCCCGCGTGTCCTCAGA	0.612												
MAP3K3	4215	broad.mit.edu	37	17	61767711	61767711	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:61767711C>T	uc002jbg.2	+	12	1470	c.1151C>T	c.(1150-1152)ACG>ATG	p.T384M	MAP3K3_uc002jbe.2_Missense_Mutation_p.T415M|MAP3K3_uc002jbf.2_Missense_Mutation_p.T415M|MAP3K3_uc002jbh.2_Missense_Mutation_p.T411M|MAP3K3_uc010wpo.1_Missense_Mutation_p.T299M|MAP3K3_uc010wpp.1_Missense_Mutation_p.T380M	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	384	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						GACGTGGACACGGGACGTGAA	0.562												
FTSJ3	117246	broad.mit.edu	37	17	61899142	61899142	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:61899142C>T	uc002jbz.2	-	14	1615	c.1537G>A	c.(1537-1539)GTA>ATA	p.V513I	FTSJ3_uc002jca.2_Missense_Mutation_p.V513I	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	513					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						TCCAGTGGTACCAGCAGTGGA	0.532												
TEX2	55852	broad.mit.edu	37	17	62290153	62290153	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:62290153C>T	uc002jec.2	-	2	1598	c.1425G>A	c.(1423-1425)ACG>ACA	p.T475T	TEX2_uc002jed.2_Silent_p.T475T|TEX2_uc002jee.2_Silent_p.T475T	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	475	Helical; (Potential).				signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGAAGCCCAACGTCTTCACTG	0.542												
AMZ2	51321	broad.mit.edu	37	17	66246996	66246996	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:66246996T>C	uc002jgs.1	+	4	462	c.345T>C	c.(343-345)TGT>TGC	p.C115C	AMZ2_uc002jgr.1_Silent_p.C115C|AMZ2_uc002jgt.1_Silent_p.C115C|AMZ2_uc002jgu.1_Silent_p.C115C|AMZ2_uc002jgv.1_Silent_p.C115C|AMZ2_uc002jgw.1_Intron|AMZ2_uc002jgy.1_Silent_p.C115C	NM_001033572	NP_001028744	Q86W34	AMZ2_HUMAN	archaemetzincins-2 isoform 1	115							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)			CGGGCTACTGTAAAGCATATT	0.363												
ABCA8	10351	broad.mit.edu	37	17	66880477	66880477	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:66880477G>A	uc002jhp.2	-	26	3669	c.3490C>T	c.(3490-3492)CTA>TTA	p.L1164L	ABCA8_uc002jhq.2_Silent_p.L1204L|ABCA8_uc010wqq.1_Silent_p.L1204L	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1164	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					CTTACAATTAGGAATACCAGA	0.303												
DNAI2	64446	broad.mit.edu	37	17	72308264	72308264	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:72308264A>G	uc002jkf.2	+	12	1716	c.1617A>G	c.(1615-1617)GTA>GTG	p.V539V	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_Intron|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	539					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						AGCTGGCCGTAGACCTGGAGG	0.607									Kartagener_syndrome			
NAT9	26151	broad.mit.edu	37	17	72769713	72769713	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:72769713A>G	uc002jlq.2	-	3	264	c.190_splice	c.e3+1	p.K64_splice	NAT9_uc002jlr.2_Splice_Site_p.K63_splice|TMEM104_uc010wrf.1_5'Flank|TMEM104_uc010wrg.1_5'Flank|TMEM104_uc002jls.3_5'Flank|TMEM104_uc010dfx.2_5'Flank	NM_015654	NP_056469	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9							protein complex	N-acetyltransferase activity				0						GGCACTCCTCACTGTCTGCAT	0.612												
TMEM104	54868	broad.mit.edu	37	17	72832269	72832269	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:72832269G>A	uc002jls.3	+	10	1096	c.934G>A	c.(934-936)GTG>ATG	p.V312M	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.V312M	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	312	Helical; (Potential).					integral to membrane					0	all_lung(278;0.23)					CCTGGACTACGTGCTGATCCT	0.602												
FADS6	283985	broad.mit.edu	37	17	72888695	72888695	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:72888695G>A	uc002jmd.1	-	2	324	c.312C>T	c.(310-312)ACC>ACT	p.T104T		NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	fatty acid desaturase domain family, member 6	110					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity				0	all_lung(278;0.172)|Lung NSC(278;0.207)					GTTTGGACTCGGTGAGGGCCC	0.592												
C17orf28	283987	broad.mit.edu	37	17	72956180	72956180	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:72956180T>C	uc002jmj.3	-	7	1041	c.892A>G	c.(892-894)AGC>GGC	p.S298G	C17orf28_uc010wrs.1_Missense_Mutation_p.S97G|C17orf28_uc002jmk.2_Missense_Mutation_p.S297G	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	298						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					CTGGCACTGCTGGCACTGTCG	0.632												
SLC16A5	9121	broad.mit.edu	37	17	73089898	73089898	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:73089898C>A	uc002jmr.2	+	3	539	c.167C>A	c.(166-168)CCC>CAC	p.P56H	SLC16A5_uc002jms.1_Missense_Mutation_p.P56H|SLC16A5_uc002jmt.2_Missense_Mutation_p.P56H|SLC16A5_uc002jmu.2_Missense_Mutation_p.P56H|SLC16A5_uc010wrt.1_Missense_Mutation_p.P96H	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	56	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCTTGGTTCCCCTCCATCCTC	0.617												
GALK1	2584	broad.mit.edu	37	17	73754633	73754633	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:73754633C>T	uc010wsi.1	-	6	904	c.841G>A	c.(841-843)GTG>ATG	p.V281M	GALK1_uc002jpk.2_Missense_Mutation_p.V281M	NM_000154	NP_000145	P51570	GALK1_HUMAN	galactokinase 1	281					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)			TCCCCCACCACGTGCCGGGCC	0.697												
ACOX1	51	broad.mit.edu	37	17	73952007	73952007	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:73952007G>A	uc002jqf.2	-	5	850	c.560C>T	c.(559-561)GCA>GTA	p.A187V	ACOX1_uc010wsq.1_Missense_Mutation_p.A149V|ACOX1_uc002jqe.2_Missense_Mutation_p.A187V|ACOX1_uc010wsr.1_Missense_Mutation_p.A119V	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	187					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1						AAGAACTATTGCATGATTTGA	0.403												
EVPL	2125	broad.mit.edu	37	17	74005049	74005049	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:74005049G>A	uc002jqi.2	-	22	4465	c.4237C>T	c.(4237-4239)CGG>TGG	p.R1413W	EVPL_uc010wss.1_Missense_Mutation_p.R1435W|EVPL_uc010wst.1_Missense_Mutation_p.R883W	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1413	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						ACGCCGGCCCGCAGCTGCTGC	0.692												
EVPL	2125	broad.mit.edu	37	17	74005310	74005310	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:74005310G>A	uc002jqi.2	-	22	4204	c.3976C>T	c.(3976-3978)CTG>TTG	p.L1326L	EVPL_uc010wss.1_Silent_p.L1348L|EVPL_uc010wst.1_Silent_p.L796L	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1326	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						TCTTTCTCCAGCACCGGGTCC	0.701												
ST6GALNAC1	55808	broad.mit.edu	37	17	74625401	74625401	+	Missense_Mutation	SNP	G	G	A	rs138569950		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:74625401G>A	uc002jsh.2	-	2	698	c.524C>T	c.(523-525)ACG>ATG	p.T175M	ST6GALNAC1_uc002jsi.2_Missense_Mutation_p.T43M|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	175	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0						CCTGGAGGCCGTCAGCTTCCT	0.582												
TMC6	11322	broad.mit.edu	37	17	76122898	76122898	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:76122898C>T	uc002juj.1	-	1	142	c.16G>A	c.(16-18)GCC>ACC	p.A6T	TMC6_uc010dhf.1_5'UTR|TMC6_uc002juk.2_Missense_Mutation_p.A6T|TMC6_uc010dhg.1_Missense_Mutation_p.A6T|TMC6_uc002jul.1_Missense_Mutation_p.A6T|TMC6_uc002jum.3_5'Flank|TMC6_uc002jun.3_Missense_Mutation_p.A6T|TMC6_uc002juo.2_Intron|TMC6_uc010wtp.1_5'Flank|TMC6_uc010wtq.1_Missense_Mutation_p.A6T	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	6	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGGATGAAGGCCAGTGGCTGG	0.652									Epidermodysplasia_Verruciformis_Familial_Clustering_of			
PGS1	9489	broad.mit.edu	37	17	76388607	76388607	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:76388607T>C	uc002jvm.2	+	2	206	c.194T>C	c.(193-195)GTC>GCC	p.V65A	PGS1_uc010wtt.1_RNA	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	65					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GTTCCCCAGGTCACCTCCCCA	0.522												
DNAH17	8632	broad.mit.edu	37	17	76420019	76420019	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:76420019G>A	uc010dhp.1	-	26	4579	c.4357C>T	c.(4357-4359)CTG>TTG	p.L1453L	PGS1_uc002jvm.2_Intron|PGS1_uc010wtt.1_Intron|PGS1_uc010dho.2_Intron|PGS1_uc002jvn.2_Intron|PGS1_uc002jvo.2_Intron|DNAH17_uc002jvq.2_Silent_p.L738L|DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			acggctgccagGATCCACTTC	0.254												
CBX4	8535	broad.mit.edu	37	17	77808735	77808735	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:77808735C>T	uc002jxe.2	-	5	869	c.706G>A	c.(706-708)GCC>ACC	p.A236T		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	236	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCTTTGGGGGCCGGCATCATT	0.617											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C17orf70	80233	broad.mit.edu	37	17	79514605	79514605	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:79514605C>T	uc002kaq.2	-	5	1558	c.1503G>A	c.(1501-1503)ACG>ACA	p.T501T	C17orf70_uc002kao.1_Silent_p.T150T|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.T350T	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	501					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)			GTCTGGGGCCCGTGCCGCTTG	0.597												
ASPSCR1	79058	broad.mit.edu	37	17	79954570	79954570	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:79954570C>T	uc002kcx.2	+	7	878	c.781C>T	c.(781-783)CCT>TCT	p.P261S	ASPSCR1_uc002kcw.1_Missense_Mutation_p.P261S|ASPSCR1_uc002kcy.2_Missense_Mutation_p.P261S|ASPSCR1_uc002kcz.2_Intron|ASPSCR1_uc002kda.2_Missense_Mutation_p.P184S|ASPSCR1_uc002kdb.1_Missense_Mutation_p.P184S	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	261							protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCCCACGAGGCCTCTGACATC	0.612			T	TFE3	alveolar soft part sarcoma							
LRRC45	201255	broad.mit.edu	37	17	79985901	79985901	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:79985901A>C	uc002kde.2	+	9	1166	c.926A>C	c.(925-927)GAG>GCG	p.E309A		NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	309	Potential.					centrosome				pancreas(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAGATGACAGAGGCCGCCCTG	0.642												
FASN	2194	broad.mit.edu	37	17	80037033	80037033	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80037033C>T	uc002kdu.2	-	43	7639	c.7522G>A	c.(7522-7524)GTG>ATG	p.V2508M	FASN_uc002kdv.1_RNA	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	2508	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCCTCCCGCACGCTCACGCGT	0.597												
FASN	2194	broad.mit.edu	37	17	80045016	80045016	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80045016T>C	uc002kdu.2	-	21	3454	c.3337A>G	c.(3337-3339)ATC>GTC	p.I1113V	FASN_uc002kdw.1_Missense_Mutation_p.I329V	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1113					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TTCTCCAGGATGGGCACCTGC	0.672												
FASN	2194	broad.mit.edu	37	17	80051506	80051506	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80051506G>A	uc002kdu.2	-	4	539	c.422C>T	c.(421-423)GCC>GTC	p.A141V		NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	141	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GAGCCGGTTGGCCATCATCGC	0.652												
UTS2R	2837	broad.mit.edu	37	17	80332577	80332577	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80332577T>G	uc010wvl.1	+	1	377	c.377T>G	c.(376-378)CTC>CGC	p.L126R		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	126	Helical; Name=3; (Potential).					integral to membrane|plasma membrane				breast(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TGCCGCGTGCTCTTCGGCCTG	0.662												
HEXDC	284004	broad.mit.edu	37	17	80400119	80400119	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80400119G>A	uc002kew.2	+	12	1371	c.1320G>A	c.(1318-1320)CCG>CCA	p.P440P	HEXDC_uc002kev.3_Missense_Mutation_p.R470Q|HEXDC_uc010diq.2_Missense_Mutation_p.G443R|HEXDC_uc010wvm.1_RNA			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	440					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTTTCTACCCGGATGCCGTGG	0.672												
C17orf62	79415	broad.mit.edu	37	17	80402342	80402342	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80402342C>T	uc002kez.2	-	5	472	c.424G>A	c.(424-426)GCA>ACA	p.A142T	C17orf62_uc002kex.2_5'UTR|C17orf62_uc002key.2_5'UTR|C17orf62_uc002kfa.2_Missense_Mutation_p.A142T|C17orf62_uc010dir.2_Missense_Mutation_p.A142T|C17orf62_uc002kfb.3_Missense_Mutation_p.A142T|C17orf62_uc002kfc.3_Missense_Mutation_p.A128T|C17orf62_uc002kfd.3_5'UTR|C17orf62_uc002kfe.3_5'UTR	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	hypothetical protein LOC79415 isoform a	142						integral to membrane	protein binding				0	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCCATGACTGCACTCTGCGTG	0.627												
TBCD	6904	broad.mit.edu	37	17	80882895	80882895	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80882895G>A	uc002kfz.2	+	27	2471	c.2341G>A	c.(2341-2343)GCC>ACC	p.A781T	TBCD_uc002kfy.1_Missense_Mutation_p.A781T|TBCD_uc002kgb.1_Missense_Mutation_p.A106T|TBCD_uc002kgc.2_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	781					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGCCTTGGGCGCCCTTCCAGG	0.637												
TBCD	6904	broad.mit.edu	37	17	80885161	80885161	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:80885161C>T	uc002kfz.2	+	29	2701	c.2571C>T	c.(2569-2571)GAC>GAT	p.D857D	TBCD_uc002kfy.1_Silent_p.D857D|TBCD_uc002kgb.1_Silent_p.D182D|TBCD_uc002kgc.2_Silent_p.D2D|TBCD_uc002kgd.2_5'Flank	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	857					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCTGCATGGACGACTACACCA	0.567												
SMCHD1	23347	broad.mit.edu	37	18	2688392	2688392	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:2688392T>C	uc002klm.3	+	6	828	c.639T>C	c.(637-639)AGT>AGC	p.S213S		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	213					chromosome organization		ATP binding				0						TTTATTTTAGTGATCATTCAG	0.358												
DLGAP1	9229	broad.mit.edu	37	18	3729292	3729292	+	Silent	SNP	C	C	T	rs142690410		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:3729292C>T	uc002kmf.2	-	4	1501	c.1434G>A	c.(1432-1434)GCG>GCA	p.A478A	DLGAP1_uc010wyz.1_Silent_p.A478A|DLGAP1_uc002kme.1_Silent_p.A176A|DLGAP1_uc010dkn.2_Silent_p.A176A|DLGAP1_uc010wyw.1_Silent_p.A184A|DLGAP1_uc010wyx.1_Silent_p.A190A|DLGAP1_uc010wyy.1_Silent_p.A190A|DLGAP1_uc002kmg.2_Silent_p.A176A|DLGAP1_uc002kmk.2_Silent_p.A478A	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	478					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GCAGGTCCAGCGCTTCCACGG	0.647												
LAMA1	284217	broad.mit.edu	37	18	6947161	6947161	+	Splice_Site	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:6947161C>T	uc002knm.2	-	61	8938	c.8844_splice	c.e61+1	p.K2948_splice	LAMA1_uc002knk.2_Splice_Site_p.K278_splice|LAMA1_uc002knl.2_Splice_Site_p.K401_splice|LAMA1_uc010wzj.1_Splice_Site_p.K2424_splice	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor						axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGCACCCACCTTGCCGTCC	0.512												
ANKRD12	23253	broad.mit.edu	37	18	9254421	9254421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:9254421C>T	uc002knv.2	+	9	1413	c.1156C>T	c.(1156-1158)CGA>TGA	p.R386*	ANKRD12_uc002knw.2_Nonsense_Mutation_p.R363*|ANKRD12_uc002knx.2_Nonsense_Mutation_p.R363*|ANKRD12_uc010dkx.1_Nonsense_Mutation_p.R93*	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	386						nucleus				ovary(2)|central_nervous_system(1)	3						GAAAGAACAACGAAAAGAAAA	0.323												
PPP4R1	9989	broad.mit.edu	37	18	9562041	9562041	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:9562041G>A	uc002koe.1	-	13	1897	c.1779C>T	c.(1777-1779)AGC>AGT	p.S593S	PPP4R1_uc002kof.2_Silent_p.S10S|PPP4R1_uc010wzo.1_Silent_p.S439S|PPP4R1_uc002kod.1_Silent_p.S576S|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	593	HEAT 11.				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						AGTCTGAATCGCTGTGAATAT	0.368												
APCDD1	147495	broad.mit.edu	37	18	10487648	10487648	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:10487648C>T	uc002kom.3	+	5	1512	c.1158C>T	c.(1156-1158)AAC>AAT	p.N386N		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	386	Extracellular (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0				READ - Rectum adenocarcinoma(15;0.08)		ACGTCTTCAACGGGAATGAGT	0.587												
FAM38B	63895	broad.mit.edu	37	18	10696429	10696429	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:10696429C>A	uc002kor.3	-	4	608	c.468G>T	c.(466-468)GTG>GTT	p.V156V	FAM38B_uc002koq.2_Silent_p.V54V	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2199	Helical; (Potential).					integral to membrane	ion channel activity			ovary(1)	1						TGATGAAGTCCACAGTGTCAG	0.537												
SPIRE1	56907	broad.mit.edu	37	18	12479767	12479767	+	Missense_Mutation	SNP	C	C	A	rs145288118		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:12479767C>A	uc002kre.2	-	10	1382	c.1335G>T	c.(1333-1335)CAG>CAT	p.Q445H	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.Q311H|SPIRE1_uc010wzx.1_Missense_Mutation_p.Q234H|SPIRE1_uc010wzy.1_Missense_Mutation_p.Q431H	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	445						cytoskeleton|perinuclear region of cytoplasm	actin binding				0						GTGCAGGCACCTGCTGTGAGG	0.517												
SPIRE1	56907	broad.mit.edu	37	18	12493099	12493099	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:12493099T>C	uc002kre.2	-	8	1208	c.1161A>G	c.(1159-1161)TCA>TCG	p.S387S	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Silent_p.S267S|SPIRE1_uc010wzx.1_Silent_p.S190S|SPIRE1_uc010wzy.1_Silent_p.S387S	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	387						cytoskeleton|perinuclear region of cytoplasm	actin binding				0						TCTCCTCTGGTGATACAGGCC	0.478												
ABHD3	171586	broad.mit.edu	37	18	19231607	19231607	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:19231607C>T	uc002ktl.2	-	9	1315	c.1175G>A	c.(1174-1176)CGT>CAT	p.R392H	ABHD3_uc002ktm.2_Missense_Mutation_p.R339H|ABHD3_uc002ktk.2_Missense_Mutation_p.R197H	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	alpha/beta hydrolase domain containing protein	392						integral to membrane	carboxylesterase activity			central_nervous_system(1)	1						CTTGAAGACACGATCCATGTA	0.428												
LAMA3	3909	broad.mit.edu	37	18	21364090	21364090	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:21364090C>T	uc002kuq.2	+	12	1658	c.1572C>T	c.(1570-1572)CGC>CGT	p.R524R	LAMA3_uc010dlv.1_Silent_p.R524R|LAMA3_uc002kur.2_Silent_p.R524R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	524	Domain V.|Laminin EGF-like 4.				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)	ATACCTGCCGCTCTGGTTTCT	0.498												
LAMA3	3909	broad.mit.edu	37	18	21390463	21390463	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:21390463C>T	uc002kuq.2	+	13	1823	c.1737C>T	c.(1735-1737)TGC>TGT	p.C579C	LAMA3_uc002kur.2_Silent_p.C579C	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	579	Domain V.|Laminin EGF-like 5.				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)	TCCCCCACTGCCAAGGTAGGA	0.562												
CDH2	1000	broad.mit.edu	37	18	25565659	25565659	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:25565659G>T	uc002kwg.2	-	12	2267	c.1808C>A	c.(1807-1809)CCT>CAT	p.P603H	CDH2_uc010xbn.1_Missense_Mutation_p.P572H	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	603	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						TAACACTTGAGGGGCATTGTC	0.398												
DSC2	1824	broad.mit.edu	37	18	28654858	28654858	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:28654858G>A	uc002kwl.3	-	12	2133	c.1679C>T	c.(1678-1680)ACG>ATG	p.T560M	DSC2_uc002kwk.3_Missense_Mutation_p.T560M	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	560	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAGTGTCCCCGTACATGTTCT	0.358												
MCART2	147407	broad.mit.edu	37	18	29340605	29340605	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:29340605T>C	uc002kxa.2	-	1	239	c.20A>G	c.(19-21)CAT>CGT	p.H7R		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	mitochondrial carrier triple repeat 2	7					transport	integral to membrane|mitochondrial inner membrane				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0539)			CCTCTTTTCATGAGCTTCTGA	0.388												
MEP1B	4225	broad.mit.edu	37	18	29790531	29790531	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:29790531T>C	uc002kxj.3	+	10	1034	c.987T>C	c.(985-987)AGT>AGC	p.S329S		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	329	Extracellular (Potential).|MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						TGCTGGAAAGTAGAACGCTGT	0.403												
C18orf21	83608	broad.mit.edu	37	18	33554884	33554884	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:33554884G>A	uc002kzc.2	+	3	230	c.126G>A	c.(124-126)ACG>ACA	p.T42T	C18orf21_uc002kzd.2_Translation_Start_Site	NM_031446	NP_113634	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	42											0						TTGAAGAAACGTGTCCATACT	0.363												
MOCOS	55034	broad.mit.edu	37	18	33779931	33779931	+	Silent	SNP	G	G	A	rs3744902		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:33779931G>A	uc002kzq.3	+	4	608	c.585G>A	c.(583-585)CCG>CCA	p.P195P		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	195					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GCCAGCTGCCGCATCTCTTCT	0.557												
FHOD3	80206	broad.mit.edu	37	18	34327049	34327049	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:34327049G>A	uc002kzt.1	+	20	3704	c.3607G>A	c.(3607-3609)GCA>ACA	p.A1203T	FHOD3_uc002kzs.1_Missense_Mutation_p.A1220T|FHOD3_uc010dmz.1_Missense_Mutation_p.A935T|FHOD3_uc010dnb.1_Missense_Mutation_p.A199T	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1203	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAAAGACTGTGCAGAGCGAAT	0.358												
CELF4	56853	broad.mit.edu	37	18	34833874	34833874	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:34833874C>T	uc002lae.2	-	12	1757	c.1361G>A	c.(1360-1362)AGC>AAC	p.S454N	CELF4_uc010dnd.1_Missense_Mutation_p.S452N|CELF4_uc002lag.2_Missense_Mutation_p.S416N|CELF4_uc002laf.2_Missense_Mutation_p.S448N	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	454	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2						GGTCTGCGCGCTGGCCGGGTT	0.517												
SETBP1	26040	broad.mit.edu	37	18	42532291	42532291	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:42532291G>A	uc010dni.2	+	4	3282	c.2986G>A	c.(2986-2988)GTG>ATG	p.V996M		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	996						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTATTACCCGGTGCCATATAT	0.443									Schinzel-Giedion_syndrome			
SETBP1	26040	broad.mit.edu	37	18	42643099	42643099	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:42643099C>T	uc010dni.2	+	6	4523	c.4227C>T	c.(4225-4227)TGC>TGT	p.C1409C		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1409						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCATCCAGTGCGAAGTGCGGA	0.542									Schinzel-Giedion_syndrome			
KIAA1632	57724	broad.mit.edu	37	18	43496007	43496007	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:43496007G>A	uc002lbm.2	-	19	3649	c.3549C>T	c.(3547-3549)GAC>GAT	p.D1183D	KIAA1632_uc002lbo.1_Silent_p.D1183D|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Silent_p.D58D	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1183					autophagy						0						TCTGTATGCAGTCTTCCTGCA	0.393												
ST8SIA5	29906	broad.mit.edu	37	18	44260090	44260090	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:44260090G>C	uc002lcj.1	-	7	1614	c.1046C>G	c.(1045-1047)GCC>GGC	p.A349G	ST8SIA5_uc002lci.1_Missense_Mutation_p.A196G|ST8SIA5_uc010xcy.1_Missense_Mutation_p.A385G|ST8SIA5_uc010xcz.1_Missense_Mutation_p.A318G	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	349	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						AGAGGGCATGGCGTGGAAGCC	0.617												
ST8SIA5	29906	broad.mit.edu	37	18	44260313	44260313	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:44260313A>G	uc002lcj.1	-	7	1391	c.823T>C	c.(823-825)TAC>CAC	p.Y275H	ST8SIA5_uc002lci.1_Missense_Mutation_p.Y122H|ST8SIA5_uc010xcy.1_Missense_Mutation_p.Y311H|ST8SIA5_uc010xcz.1_Missense_Mutation_p.Y244H	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	275	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						TGGAAGTAGTAGACAGCTTGC	0.622												
TCEB3B	51224	broad.mit.edu	37	18	44559729	44559729	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:44559729C>T	uc002lcr.1	-	1	2260	c.1907G>A	c.(1906-1908)GGC>GAC	p.G636D	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	636	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TGCCTCTCTGCCGTTGGGGTT	0.532												
ZBTB7C	201501	broad.mit.edu	37	18	45566744	45566744	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:45566744T>C	uc002lda.2	-	1	751	c.735A>G	c.(733-735)AGA>AGG	p.R245R	ZBTB7C_uc002ldb.2_Silent_p.R245R|ZBTB7C_uc010dnu.2_Silent_p.R254R|ZBTB7C_uc010dnv.2_Silent_p.R267R|ZBTB7C_uc010dnw.2_Silent_p.R245R|ZBTB7C_uc010dnx.1_Silent_p.R245R|ZBTB7C_uc010dny.1_Silent_p.R245R|ZBTB7C_uc010dnz.1_Silent_p.R267R|ZBTB7C_uc010dob.1_Silent_p.R245R|ZBTB7C_uc010doc.1_Silent_p.R254R|ZBTB7C_uc010dod.1_Silent_p.R267R|ZBTB7C_uc010doe.1_Silent_p.R245R|ZBTB7C_uc010dof.1_Silent_p.R245R|ZBTB7C_uc010dog.1_Silent_p.R245R|ZBTB7C_uc010doh.1_Silent_p.R254R|ZBTB7C_uc010doi.1_Silent_p.R245R|ZBTB7C_uc010doj.1_Silent_p.R254R|ZBTB7C_uc010dok.1_Silent_p.R294R|ZBTB7C_uc010dol.1_Silent_p.R254R|ZBTB7C_uc010doa.1_Silent_p.R267R|ZBTB7C_uc010don.1_Silent_p.R253R|ZBTB7C_uc010doo.1_Silent_p.R245R|ZBTB7C_uc010dop.1_Silent_p.R245R|ZBTB7C_uc010doq.1_Silent_p.R254R|ZBTB7C_uc010dor.1_Silent_p.R267R|ZBTB7C_uc010dos.1_Silent_p.R245R|ZBTB7C_uc010dot.1_Silent_p.R245R|ZBTB7C_uc010dou.1_Silent_p.R254R|ZBTB7C_uc010dom.1_Silent_p.R254R	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	245						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						ACAAGGAGGGTCTCCTGTCGG	0.617												
ZBTB7C	201501	broad.mit.edu	37	18	45567049	45567049	+	Missense_Mutation	SNP	C	C	T	rs148618880		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:45567049C>T	uc002lda.2	-	1	446	c.430G>A	c.(430-432)GAC>AAC	p.D144N	ZBTB7C_uc002ldb.2_Missense_Mutation_p.D144N|ZBTB7C_uc010dnu.2_Missense_Mutation_p.D153N|ZBTB7C_uc010dnv.2_Missense_Mutation_p.D166N|ZBTB7C_uc010dnw.2_Missense_Mutation_p.D144N|ZBTB7C_uc010dnx.1_Missense_Mutation_p.D144N|ZBTB7C_uc010dny.1_Missense_Mutation_p.D144N|ZBTB7C_uc010dnz.1_Missense_Mutation_p.D166N|ZBTB7C_uc010dob.1_Missense_Mutation_p.D144N|ZBTB7C_uc010doc.1_Missense_Mutation_p.D153N|ZBTB7C_uc010dod.1_Missense_Mutation_p.D166N|ZBTB7C_uc010doe.1_Missense_Mutation_p.D144N|ZBTB7C_uc010dof.1_Missense_Mutation_p.D144N|ZBTB7C_uc010dog.1_Missense_Mutation_p.D144N|ZBTB7C_uc010doh.1_Missense_Mutation_p.D153N|ZBTB7C_uc010doi.1_Missense_Mutation_p.D144N|ZBTB7C_uc010doj.1_Missense_Mutation_p.D153N|ZBTB7C_uc010dok.1_Missense_Mutation_p.D193N|ZBTB7C_uc010dol.1_Missense_Mutation_p.D153N|ZBTB7C_uc010doa.1_Missense_Mutation_p.D166N|ZBTB7C_uc010don.1_Missense_Mutation_p.D152N|ZBTB7C_uc010doo.1_Missense_Mutation_p.D144N|ZBTB7C_uc010dop.1_Missense_Mutation_p.D144N|ZBTB7C_uc010doq.1_Missense_Mutation_p.D153N|ZBTB7C_uc010dor.1_Missense_Mutation_p.D166N|ZBTB7C_uc010dos.1_Missense_Mutation_p.D144N|ZBTB7C_uc010dot.1_Missense_Mutation_p.D144N|ZBTB7C_uc010dou.1_Missense_Mutation_p.D153N|ZBTB7C_uc010dom.1_Missense_Mutation_p.D153N	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	144	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						tcttcgtcgtcgtcatcgtcc	0.269												
ACAA2	10449	broad.mit.edu	37	18	47311636	47311636	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:47311636G>A	uc002ldw.3	-	9	1437	c.1040C>T	c.(1039-1041)GCC>GTC	p.A347V	ACAA2_uc002ldx.3_Missense_Mutation_p.A344V	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	347					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1						CAAAGCAATGGCTCCTCCATT	0.413												
MBD1	4152	broad.mit.edu	37	18	47800077	47800077	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:47800077T>C	uc010dow.1	-	12	1740	c.1303A>G	c.(1303-1305)ACC>GCC	p.T435A	MBD1_uc002lef.2_Missense_Mutation_p.T186A|MBD1_uc002leg.2_Missense_Mutation_p.T385A|MBD1_uc010xdi.1_Missense_Mutation_p.T486A|MBD1_uc002leh.3_Missense_Mutation_p.T379A|MBD1_uc002len.2_Missense_Mutation_p.T435A|MBD1_uc002lei.3_Missense_Mutation_p.T435A|MBD1_uc002lej.3_Missense_Mutation_p.T379A|MBD1_uc002lek.3_Missense_Mutation_p.T386A|MBD1_uc002lel.3_Missense_Mutation_p.T412A|MBD1_uc002lem.3_Missense_Mutation_p.T435A|MBD1_uc010xdj.1_Missense_Mutation_p.T379A|MBD1_uc010xdk.1_Missense_Mutation_p.T460A|MBD1_uc010dox.1_Missense_Mutation_p.T412A|MBD1_uc002leo.2_Missense_Mutation_p.T435A	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	435					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGAGCCTGGGTATGGTCTGGT	0.607												
ATP8B1	5205	broad.mit.edu	37	18	55319825	55319825	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:55319825G>T	uc002lgw.2	-	24	3152	c.3152C>A	c.(3151-3153)CCT>CAT	p.P1051H	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	1051	Helical; (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				AGCTCCAAGAGGTATGAAGAA	0.443									Byler_disease			
ALPK2	115701	broad.mit.edu	37	18	56246569	56246569	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:56246569G>A	uc002lhj.3	-	4	1653	c.1439C>T	c.(1438-1440)GCC>GTC	p.A480V		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	480							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						ATTGTCACTGGCAAATTCCTC	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF532	55205	broad.mit.edu	37	18	56586759	56586759	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:56586759G>A	uc002lho.2	+	4	1787	c.1240G>A	c.(1240-1242)GCC>ACC	p.A414T	ZNF532_uc002lhp.2_Missense_Mutation_p.A412T|ZNF532_uc010xeg.1_Missense_Mutation_p.A412T|ZNF532_uc002lhr.2_Missense_Mutation_p.A412T|ZNF532_uc002lhs.2_Missense_Mutation_p.A412T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						AGCATCAGCCGCCGTCCTTTC	0.582												
CDH20	28316	broad.mit.edu	37	18	59157849	59157849	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:59157849C>T	uc010dps.1	+	1	75	c.63C>T	c.(61-63)TAC>TAT	p.Y21Y	CDH20_uc002lif.2_Silent_p.Y15Y	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	21					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TGTCCTTGTACTTCTGGGGGC	0.488												
SERPINB10	5273	broad.mit.edu	37	18	61585320	61585320	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:61585320C>T	uc010xev.1	+	4	446	c.356C>T	c.(355-357)ACG>ATG	p.T119M	SERPINB10_uc010xew.1_Missense_Mutation_p.T119M	NM_005024	NP_005015	P48595	SPB10_HUMAN	serine (or cysteine) proteinase inhibitor, clade	119						cytoplasm|nucleus	serine-type endopeptidase inhibitor activity	p.T119T(1)		lung(1)|kidney(1)|skin(1)	3		Esophageal squamous(42;0.131)				GGAGAGAAAACGTATGCATTT	0.348												
DSEL	92126	broad.mit.edu	37	18	65180259	65180259	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:65180259A>G	uc002lke.1	-	2	2841	c.1617T>C	c.(1615-1617)ACT>ACC	p.T539T		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	529						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				CCTCCTCGCCAGTCCACTTAA	0.498												
DSEL	92126	broad.mit.edu	37	18	65181045	65181045	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:65181045A>C	uc002lke.1	-	2	2055	c.831T>G	c.(829-831)CAT>CAG	p.H277Q		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	267						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				CATCAACAATATGATTCAATA	0.413												
DSEL	92126	broad.mit.edu	37	18	65181751	65181751	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:65181751C>A	uc002lke.1	-	2	1349	c.125G>T	c.(124-126)TGG>TTG	p.W42L		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	32						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				GAAAACTGCCCATTCGGAATA	0.353												
DOK6	220164	broad.mit.edu	37	18	67231778	67231778	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:67231778G>T	uc002lkl.2	+	2	312	c.122G>T	c.(121-123)AGG>ATG	p.R41M		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	41	PH.						insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGACCCAGAAGGTTAGAAAAA	0.408												
RTTN	25914	broad.mit.edu	37	18	67817853	67817853	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:67817853G>A	uc002lkp.2	-	15	2114	c.2046C>T	c.(2044-2046)CCC>CCT	p.P682P	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	682							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				CCTCACTTTCGGGCTCTTGAA	0.333												
CBLN2	147381	broad.mit.edu	37	18	70209282	70209282	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:70209282C>T	uc002lku.2	-	2	349	c.114G>A	c.(112-114)CTG>CTA	p.L38L	CBLN2_uc002lkv.2_Silent_p.L38L	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	38	Helical; (Potential).					integral to membrane					0		Esophageal squamous(42;0.131)				GCAGCAACAGCAGGGCCAGCG	0.582												
CNDP1	84735	broad.mit.edu	37	18	72228205	72228205	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:72228205C>T	uc002llq.2	+	4	629	c.418C>T	c.(418-420)CGG>TGG	p.R140W	uc002llr.2_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	140					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GCCTGCTGACCGGGGCGATGG	0.622												
ZNF407	55628	broad.mit.edu	37	18	72343120	72343120	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:72343120G>A	uc002llw.2	+	1	202	c.145G>A	c.(145-147)GGC>AGC	p.G49S	ZNF407_uc010xfc.1_Missense_Mutation_p.G49S|ZNF407_uc010dqu.1_Missense_Mutation_p.G49S|ZNF407_uc002llu.2_Missense_Mutation_p.G48S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAATTCTATGGGCAAAAGAGG	0.398												
ZNF407	55628	broad.mit.edu	37	18	72344625	72344625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:72344625C>A	uc002llw.2	+	1	1707	c.1650C>A	c.(1648-1650)TGC>TGA	p.C550*	ZNF407_uc010xfc.1_Nonsense_Mutation_p.C550*|ZNF407_uc010dqu.1_Nonsense_Mutation_p.C550*|ZNF407_uc002llu.2_Nonsense_Mutation_p.C549*	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	550	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGAAAAGGTGCCATGCCAGAG	0.443												
SALL3	27164	broad.mit.edu	37	18	76753102	76753102	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:76753102G>A	uc002lmt.2	+	2	1111	c.1111G>A	c.(1111-1113)GTC>ATC	p.V371I	SALL3_uc010dra.2_5'UTR	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGCCAGCGGCGTCATCTTCCC	0.706												
ATP9B	374868	broad.mit.edu	37	18	77133945	77133945	+	Missense_Mutation	SNP	G	G	A	rs147249454	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:77133945G>A	uc002lmx.2	+	28	3132	c.3118G>A	c.(3118-3120)GTC>ATC	p.V1040I	ATP9B_uc002lmw.1_Missense_Mutation_p.V1040I|ATP9B_uc002lna.2_Missense_Mutation_p.V66I|ATP9B_uc002lnb.1_3'UTR|ATP9B_uc010drb.2_RNA	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1040	Helical; (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GTCTGAGTTCGTCCACGTGGT	0.602												
KCNG2	26251	broad.mit.edu	37	18	77659290	77659290	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:77659290C>T	uc010xfl.1	+	2	875	c.875C>T	c.(874-876)GCG>GTG	p.A292V		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	292	Helical; Voltage-sensor; Name=Segment S4; (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CTGCTGCGTGCGCTGCGCGTG	0.746												
KCNG2	26251	broad.mit.edu	37	18	77659487	77659487	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:77659487G>A	uc010xfl.1	+	2	1072	c.1072G>A	c.(1072-1074)GCC>ACC	p.A358T		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	358					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CAGCGTGCCCGCCAGCTATTG	0.706												
KCNG2	26251	broad.mit.edu	37	18	77659546	77659546	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:77659546G>A	uc010xfl.1	+	2	1131	c.1131G>A	c.(1129-1131)CCG>CCA	p.P377P		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	377					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ACATGGTCCCGCGCAGCCTGC	0.682												
BSG	682	broad.mit.edu	37	19	577839	577839	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:577839G>A	uc002loz.2	+	2	231	c.133G>A	c.(133-135)GAG>AAG	p.E45K	BSG_uc002loy.2_Intron|BSG_uc002lpa.2_Intron|BSG_uc002lpb.2_Intron|BSG_uc010drr.2_Intron|BSG_uc002lpc.2_5'Flank	NM_001728	NP_001719	P35613	BASI_HUMAN	basigin isoform 1 precursor	45					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding				0		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCACTGCGAGGCCGTGGG	0.701												
PRSSL1	400668	broad.mit.edu	37	19	694846	694846	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:694846C>A	uc002lpl.1	-	2	235	c.204G>T	c.(202-204)TGG>TGT	p.W68C	PRSSL1_uc010xfs.1_Missense_Mutation_p.W67C	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine-like 1 precursor	68	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAGACCACCCAGCGGGCTC	0.677												
C19orf21	126353	broad.mit.edu	37	19	757730	757730	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:757730C>T	uc002lpo.2	+	2	867	c.784C>T	c.(784-786)CGT>TGT	p.R262C		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	262										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACAAGGTGCGTGCTGTGCC	0.657												
ABCA7	10347	broad.mit.edu	37	19	1041564	1041564	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:1041564C>T	uc002lqw.3	+	3	353	c.122C>T	c.(121-123)GCT>GTT	p.A41V	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.2_Missense_Mutation_p.A41V	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	41	Helical; (Potential).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)		ATCCTGGTGGCTGTTCGCCAC	0.632												
ABCA7	10347	broad.mit.edu	37	19	1053818	1053818	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:1053818C>T	uc002lqw.3	+	25	3686	c.3455C>T	c.(3454-3456)GCG>GTG	p.A1152V	ABCA7_uc010dsb.1_Missense_Mutation_p.A1014V	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1152					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)		GAGTGTGCTGCGGACACAGAT	0.642												
SBNO2	22904	broad.mit.edu	37	19	1123586	1123586	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:1123586T>G	uc002lrk.3	-	7	813	c.575A>C	c.(574-576)GAG>GCG	p.E192A	SBNO2_uc002lrj.3_Missense_Mutation_p.E135A|SBNO2_uc010dse.2_Missense_Mutation_p.E185A|SBNO2_uc010xgj.1_Missense_Mutation_p.E135A|SBNO2_uc010dsf.2_Missense_Mutation_p.E135A	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	192	Poly-Glu.				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ctcctccgcctcctcctcctc	0.537												
APC2	10297	broad.mit.edu	37	19	1465619	1465619	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:1465619C>T	uc002lsr.1	+	15	2527	c.2319C>T	c.(2317-2319)TCC>TCT	p.S773S	APC2_uc002lss.1_Silent_p.S355S|APC2_uc002lst.1_Silent_p.S773S|APC2_uc002lsu.1_Silent_p.S772S|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	773					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)		ACTATGCTTCCGATTCGGGCT	0.706												
APC2	10297	broad.mit.edu	37	19	1468460	1468460	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:1468460C>T	uc002lsr.1	+	15	5368	c.5160C>T	c.(5158-5160)TTC>TTT	p.F1720F	APC2_uc002lss.1_Silent_p.F1302F|APC2_uc002lst.1_Silent_p.F1720F|APC2_uc002lsu.1_Silent_p.F1719F|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1720					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)		TCCTGTCCTTCGTATCCGGGC	0.647												
MBD3	53615	broad.mit.edu	37	19	1578404	1578404	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:1578404C>T	uc002ltl.1	-	6	833	c.811G>A	c.(811-813)GAC>AAC	p.D271N	uc002lti.1_5'Flank|MBD3_uc002ltj.2_Missense_Mutation_p.D271N|MBD3_uc002ltk.2_Missense_Mutation_p.D239N	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	271					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)		tcttcctcgtcgtcgtcctcA	0.587												
CSNK1G2	1455	broad.mit.edu	37	19	1969934	1969934	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:1969934G>T	uc002lul.3	+	3	686	c.163G>T	c.(163-165)GGC>TGC	p.G55C	CSNK1G2_uc010dsu.2_5'UTR	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	55	Protein kinase.|ATP (By similarity).				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		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)		GATCGGCTGCGGCAACTTCGG	0.726												
MKNK2	2872	broad.mit.edu	37	19	2046621	2046621	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:2046621G>A	uc002lus.2	-	3	366	c.121C>T	c.(121-123)CAG>TAG	p.Q41*	MKNK2_uc010xgu.1_5'UTR|MKNK2_uc010xgv.1_5'UTR|MKNK2_uc002lur.2_Nonsense_Mutation_p.Q41*	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	41					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)		GCTGAGCACTGCAGGCCAAAG	0.697												
DOT1L	84444	broad.mit.edu	37	19	2191017	2191017	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:2191017G>T	uc002lvb.3	+	5	307	c.271G>T	c.(271-273)GGC>TGC	p.G91C		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	91						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGTGGAAGGGCACCACGCA	0.652												
SF3A2	8175	broad.mit.edu	37	19	2247960	2247960	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:2247960G>A	uc002lvg.2	+	9	932	c.810G>A	c.(808-810)GCG>GCA	p.A270A	AMH_uc002lvh.2_5'Flank|hsa-mir-4321|MI0015852_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2	270	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCCTGCGCCCTCAGGGC	0.741												
JSRP1	126306	broad.mit.edu	37	19	2252760	2252760	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:2252760C>T	uc002lvi.1	-	6	599	c.564G>A	c.(562-564)CCG>CCA	p.P188P	JSRP1_uc002lvj.1_Silent_p.P188P	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	188	Pro-rich.					sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCGCAGGCGGCGCTGATG	0.697												
SPPL2B	56928	broad.mit.edu	37	19	2337508	2337508	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:2337508G>T	uc002lvs.2	+	3	333	c.253G>T	c.(253-255)GGC>TGC	p.G85C	SPPL2B_uc010dsw.1_Missense_Mutation_p.G57C|SPPL2B_uc010dsy.1_Missense_Mutation_p.G57C|SPPL2B_uc010dsz.1_Missense_Mutation_p.G85C|SPPL2B_uc002lvr.2_Missense_Mutation_p.G85C|SPPL2B_uc010dta.1_5'Flank|SPPL2B_uc002lvu.2_5'Flank	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	85	Cytoplasmic (Potential).|PA.					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGCCCGTGGCTTCAGCAA	0.657												
SLC39A3	29985	broad.mit.edu	37	19	2733026	2733026	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:2733026G>A	uc002lwg.2	-	3	922	c.668C>T	c.(667-669)GCC>GTC	p.A223V	SLC39A3_uc010xgy.1_Missense_Mutation_p.A223V	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	223	Cytoplasmic (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)		CAGGGGCATGGCACTCCGGGC	0.701												
ZNF77	58492	broad.mit.edu	37	19	2934350	2934350	+	Missense_Mutation	SNP	C	C	T	rs146262812		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:2934350C>T	uc002lws.3	-	4	906	c.775G>A	c.(775-777)GTA>ATA	p.V259I		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	zinc finger protein 77	259	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGTTCTTACGTGCCGTGTA	0.453												
TLE2	7089	broad.mit.edu	37	19	3005872	3005872	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:3005872A>G	uc002lww.2	-	16	1858	c.1595T>C	c.(1594-1596)CTG>CCG	p.L532P	TLE2_uc010xhb.1_Missense_Mutation_p.L199P|TLE2_uc010dth.2_Missense_Mutation_p.L533P|TLE2_uc010xhc.1_Missense_Mutation_p.L410P|TLE2_uc010dti.2_Missense_Mutation_p.L546P	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	532	WD 2.				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)		GGGCGCCGCCAGGTCCCAAAT	0.647												
S1PR4	8698	broad.mit.edu	37	19	3179875	3179875	+	Missense_Mutation	SNP	G	G	A	rs141031634	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:3179875G>A	uc002lxg.2	+	1	1110	c.1085G>A	c.(1084-1086)CGC>CAC	p.R362H		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	362	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						GACAGCTTTCGCGGCTCCCGC	0.672												
TBXA2R	6915	broad.mit.edu	37	19	3600080	3600080	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:3600080G>A	uc002lyg.1	-	2	767	c.553C>T	c.(553-555)CTG>TTG	p.L185L	TBXA2R_uc002lye.1_Intron	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	185	Extracellular (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCCAGCGTCAGGAAGCACCAG	0.716												
ZFR2	23217	broad.mit.edu	37	19	3819150	3819150	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:3819150C>A	uc002lyw.2	-	12	1836	c.1824G>T	c.(1822-1824)CTG>CTT	p.L608L		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	608						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCTGCACGGCCAGGAGCTCCT	0.721												
PIAS4	51588	broad.mit.edu	37	19	4037483	4037483	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:4037483G>T	uc002lzg.2	+	10	1264	c.1254G>T	c.(1252-1254)CAG>CAT	p.Q418H		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	418					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCCCGCAGGGCGCCATCC	0.652												
TMIGD2	126259	broad.mit.edu	37	19	4298154	4298154	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:4298154C>A	uc002lzx.1	-	2	281	c.235G>T	c.(235-237)GGG>TGG	p.G79W	TMIGD2_uc010dtv.1_Missense_Mutation_p.G79W	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain	79	Extracellular (Potential).|Ig-like.					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCAGACCCCCAGGCTGAGG	0.657												
UBXN6	80700	broad.mit.edu	37	19	4446367	4446367	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:4446367T>C	uc002man.1	-	9	1060	c.964A>G	c.(964-966)ATG>GTG	p.M322V	UBXN6_uc010dty.1_Missense_Mutation_p.M226V|UBXN6_uc002mam.1_Missense_Mutation_p.M269V	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	322						microtubule organizing center|nucleus	protein binding				0						TTCTCCCGCATGGCCTTGGTC	0.721												
DPP9	91039	broad.mit.edu	37	19	4683643	4683643	+	Splice_Site	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:4683643T>C	uc002mba.2	-	19	2437	c.2179_splice	c.e19-1	p.G727_splice		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9						proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CACCTGGCCCTGAGGGATGAA	0.627												
PLIN3	10226	broad.mit.edu	37	19	4847789	4847789	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:4847789C>T	uc002mbj.2	-	6	925	c.748G>A	c.(748-750)GCC>ACC	p.A250T	PLIN3_uc002mbk.2_Missense_Mutation_p.A238T|PLIN3_uc002mbl.3_Missense_Mutation_p.A250T	NM_005817	NP_005808	O60664	PLIN3_HUMAN	mannose 6 phosphate receptor binding protein 1	250					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding				0					Galsulfase(DB01279)|Idursulfase(DB01271)	TGCTCATAGGCGTGCTGCCGC	0.637												
UHRF1	29128	broad.mit.edu	37	19	4932904	4932904	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:4932904G>A	uc002mbo.2	+	5	889	c.721G>A	c.(721-723)GCG>ACG	p.A241T	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.A254T	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	241					cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CTGGTACGACGCGGAGATCTC	0.657												
CAPS	828	broad.mit.edu	37	19	5915019	5915019	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:5915019C>T	uc002mdt.2	+	4	480	c.330C>T	c.(328-330)GAC>GAT	p.D110D	CAPS_uc002mdu.2_Silent_p.D110D	NM_004058	NP_004049	Q13938	CAYP1_HUMAN	calcyphosine isoform a	110	EF-hand 3.|3.				intracellular signal transduction	cytoplasm	calcium ion binding				0						GCAGTGGGGACGGCGTCGTGA	0.701												
RANBP3	8498	broad.mit.edu	37	19	5941834	5941834	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:5941834C>T	uc002mdw.2	-	4	522	c.295G>A	c.(295-297)GGC>AGC	p.G99S	RANBP3_uc002mdx.2_Missense_Mutation_p.G99S|RANBP3_uc002mdy.2_Missense_Mutation_p.G31S|RANBP3_uc002mdz.2_Missense_Mutation_p.G31S|RANBP3_uc010duq.2_5'UTR|RANBP3_uc002mea.2_Intron|RANBP3_uc010xix.1_Intron	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	99					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						GGACTGGAGCCGCCAGCTGAC	0.532												
RFX2	5990	broad.mit.edu	37	19	6047472	6047472	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:6047472C>T	uc002meb.2	-	2	305	c.36G>A	c.(34-36)GCG>GCA	p.A12A	RFX2_uc002mec.2_Silent_p.A12A|RFX2_uc010xiy.1_Intron	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						GAGCCACGGACGCTGGCGAAT	0.637											OREG0025192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TUBB4	10382	broad.mit.edu	37	19	6501365	6501365	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:6501365G>A	uc002mfg.1	-	3	317	c.210C>T	c.(208-210)CCC>CCT	p.P70P	TUBB4_uc002mff.1_5'UTR	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	70					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		CCATGGTGCCGGGTTCCAGGT	0.617												
TNFSF14	8740	broad.mit.edu	37	19	6665335	6665335	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:6665335C>T	uc002mfk.1	-	5	707	c.325G>A	c.(325-327)GGG>AGG	p.G109R	TNFSF14_uc002mfj.1_Missense_Mutation_p.G73R	NM_003807	NP_003798	O43557	TNF14_HUMAN	tumor necrosis factor ligand superfamily, member	109	Extracellular (Potential).				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1						AGCGGCCCCCCGCTGCCGGTC	0.562												
ARHGEF18	23370	broad.mit.edu	37	19	7509263	7509263	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:7509263C>T	uc002mgi.2	+	4	1223	c.970C>T	c.(970-972)CGC>TGC	p.R324C	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R166C|ARHGEF18_uc002mgh.2_Missense_Mutation_p.R166C|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	324	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				GCTCAAGGAGCGCCGCCAGGA	0.622												
PNPLA6	10908	broad.mit.edu	37	19	7619468	7619468	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:7619468G>A	uc010xjq.1	+	23	2718	c.2523G>A	c.(2521-2523)TGG>TGA	p.W841*	PNPLA6_uc002mgq.1_Nonsense_Mutation_p.W793*|PNPLA6_uc010xjp.1_Nonsense_Mutation_p.W766*|PNPLA6_uc002mgr.1_Nonsense_Mutation_p.W793*|PNPLA6_uc002mgs.2_Nonsense_Mutation_p.W831*|PNPLA6_uc002mgt.1_5'Flank	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	832	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						TGTCAGGGTGGCTGGCCCAGC	0.657												
LRRC8E	80131	broad.mit.edu	37	19	7965099	7965099	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:7965099C>T	uc002mir.2	+	3	1793	c.1692C>T	c.(1690-1692)AGC>AGT	p.S564S		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	564	LRR 3.					integral to membrane				lung(1)|pancreas(1)	2						AGAGGCTCAGCCTGCACAACG	0.662												
FBN3	84467	broad.mit.edu	37	19	8156411	8156411	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8156411C>A	uc002mjf.2	-	47	5990	c.5969G>T	c.(5968-5970)GGG>GTG	p.G1990V	FBN3_uc002mje.2_5'Flank	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1990	EGF-like 32; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CTGGAAGCTCCCAGGGCTGTT	0.592												
FBN3	84467	broad.mit.edu	37	19	8186207	8186207	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8186207C>T	uc002mjf.2	-	24	3167	c.3146G>A	c.(3145-3147)GGC>GAC	p.G1049D		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1049	EGF-like 13; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CTCAAAGCTGCCCGGCGTGTT	0.637												
FBN3	84467	broad.mit.edu	37	19	8201336	8201336	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8201336C>T	uc002mjf.2	-	10	1302	c.1281G>A	c.(1279-1281)ACG>ACA	p.T427T		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	427	EGF-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						AGCTGGAAGGCGTGGGCAGGC	0.652												
CD320	51293	broad.mit.edu	37	19	8368790	8368790	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8368790G>A	uc002mjj.1	-	3	516	c.451C>T	c.(451-453)CGC>TGC	p.R151C	CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Missense_Mutation_p.R109C	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	8D6 antigen isoform 1 precursor	151	Extracellular (Potential).|LDL-receptor class A 2.				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity				0						CCGTCGCAGCGCCACGTGAGT	0.657												
MYO1F	4542	broad.mit.edu	37	19	8609306	8609306	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8609306T>C	uc002mkg.2	-	14	1513	c.1399A>G	c.(1399-1401)ACC>GCC	p.T467A		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	467	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						GCGTGCATGGTGGCGCACACG	0.677												
ADAMTS10	81794	broad.mit.edu	37	19	8654234	8654234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8654234G>A	uc002mkj.1	-	18	2324	c.2050C>T	c.(2050-2052)CGA>TGA	p.R684*	ADAMTS10_uc002mki.1_Nonsense_Mutation_p.R171*|ADAMTS10_uc002mkk.1_Nonsense_Mutation_p.R316*	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	684	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						CCCAGGACTCGGTCGCAGCCC	0.692												
MUC16	94025	broad.mit.edu	37	19	9057577	9057577	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:9057577T>C	uc002mkp.2	-	3	30073	c.29869A>G	c.(29869-29871)ACC>GCC	p.T9957A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9959	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						TTTTGGGTGGTGATGGTCATT	0.498												
MUC16	94025	broad.mit.edu	37	19	9072308	9072308	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:9072308T>C	uc002mkp.2	-	3	15342	c.15138A>G	c.(15136-15138)TCA>TCG	p.S5046S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5048	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						TCATTGCAGGTGAGGACAGAA	0.478												
MUC16	94025	broad.mit.edu	37	19	9090342	9090342	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:9090342C>T	uc002mkp.2	-	1	1677	c.1473G>A	c.(1471-1473)GGG>GGA	p.G491G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	491	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						AACTCTGCCTCCCAGAGGTGC	0.532												
COL5A3	50509	broad.mit.edu	37	19	10116619	10116619	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10116619C>T	uc002mmq.1	-	3	376	c.290G>A	c.(289-291)CGG>CAG	p.R97Q		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	97	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			TGGCTGTCCCCGCAAGGTGAT	0.622												
ICAM5	7087	broad.mit.edu	37	19	10403761	10403761	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10403761G>A	uc002mnu.3	+	6	1369	c.1304G>A	c.(1303-1305)GGG>GAG	p.G435E	ICAM5_uc002mnv.3_Missense_Mutation_p.G310E	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	435	Extracellular (Potential).|Ig-like C2-type 5.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGGCCCGCGGGAACCCAGAA	0.716												
ICAM5	7087	broad.mit.edu	37	19	10403790	10403790	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10403790C>T	uc002mnu.3	+	6	1398	c.1333C>T	c.(1333-1335)CGC>TGC	p.R445C	ICAM5_uc002mnv.3_Missense_Mutation_p.R320C	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	445	Extracellular (Potential).|Ig-like C2-type 5.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCACTGTGCGCGCTCCGACGG	0.697												
ICAM5	7087	broad.mit.edu	37	19	10405119	10405119	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10405119C>T	uc002mnu.3	+	9	2098	c.2033C>T	c.(2032-2034)ACG>ATG	p.T678M	ICAM5_uc002mnv.3_Missense_Mutation_p.T553M	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	678	Extracellular (Potential).|Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AGTCACCAGACGTGGCTGGAA	0.682												
TYK2	7297	broad.mit.edu	37	19	10467270	10467270	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10467270C>T	uc002moc.3	-	18	2969	c.2591G>A	c.(2590-2592)CGT>CAT	p.R864H	TYK2_uc010dxe.2_Missense_Mutation_p.R679H	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	864	Protein kinase 1.				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)			GGTGAGGTCACGCAGGATGGT	0.657												
CDC37	11140	broad.mit.edu	37	19	10506876	10506876	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10506876G>A	uc002mof.1	-	2	222	c.106C>T	c.(106-108)CGG>TGG	p.R36W	CDC37_uc002moe.1_5'Flank|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Missense_Mutation_p.R36W|CDC37_uc002moh.2_Missense_Mutation_p.R36W	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	36					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding				0			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CGTTCCACCCGGGCCTGCGGG	0.632												
KEAP1	9817	broad.mit.edu	37	19	10602938	10602938	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10602938C>T	uc002moq.1	-	3	796	c.640G>A	c.(640-642)GTG>ATG	p.V214M	KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.V214M	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	214	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGCTTGGCCACCTGCAGAGGG	0.522												
KRI1	65095	broad.mit.edu	37	19	10670333	10670333	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10670333G>A	uc002moy.1	-	11	1006	c.997C>T	c.(997-999)CGC>TGC	p.R333C	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Missense_Mutation_p.R329C	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	333	Glu-rich.									ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCCTTTCTGCGCTCATCCTTA	0.617												
QTRT1	81890	broad.mit.edu	37	19	10818220	10818220	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10818220C>A	uc002mpr.2	+	5	600	c.575C>A	c.(574-576)CCG>CAG	p.P192Q		NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	192					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			skin(1)	1			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CATCAGCGGCCGGACAAGCAG	0.652												
SMARCA4	6597	broad.mit.edu	37	19	11132481	11132481	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:11132481G>A	uc002mqf.3	+	19	2981	c.2697G>A	c.(2695-2697)ACG>ACA	p.T899T	SMARCA4_uc010dxp.2_Silent_p.T899T|SMARCA4_uc010dxo.2_Silent_p.T899T|SMARCA4_uc002mqg.1_Silent_p.T899T|SMARCA4_uc010dxq.2_Silent_p.T899T|SMARCA4_uc010dxr.2_Silent_p.T899T|SMARCA4_uc002mqj.3_Silent_p.T899T|SMARCA4_uc010dxs.2_Silent_p.T899T|SMARCA4_uc010dxt.1_Silent_p.T119T|SMARCA4_uc002mqh.3_Silent_p.T22T|SMARCA4_uc002mqi.1_Silent_p.T102T	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	899	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGCTCAACACGCACTATGTGG	0.617			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
KANK2	25959	broad.mit.edu	37	19	11304231	11304231	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:11304231G>T	uc010dxv.2	-	6	1083	c.525C>A	c.(523-525)TCC>TCA	p.S175S	KANK2_uc002mqm.2_Silent_p.S175S|KANK2_uc002mqo.3_Silent_p.S175S|KANK2_uc002mqp.1_5'UTR|KANK2_uc002mqq.2_Silent_p.S175S	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	175											0						GCACCGGTGTGGACAGTCCTG	0.721												
DOCK6	57572	broad.mit.edu	37	19	11352750	11352750	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:11352750G>A	uc002mqs.3	-	14	1655	c.1614C>T	c.(1612-1614)CGC>CGT	p.R538R		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	538					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CATAGACTTCGCGGGCGGGGA	0.612												
RGL3	57139	broad.mit.edu	37	19	11505147	11505147	+	Silent	SNP	G	G	A	rs149567445	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:11505147G>A	uc002mrp.2	-	19	2128	c.2064C>T	c.(2062-2064)GTC>GTT	p.V688V	RGL3_uc002mrn.2_Intron|RGL3_uc002mrm.2_Intron|RGL3_uc002mro.2_Silent_p.V694V	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	688	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						CTCTGGGGGCGACTGGACTCA	0.567												
CCDC151	115948	broad.mit.edu	37	19	11541563	11541563	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:11541563C>T	uc002mrs.2	-	3	543	c.400G>A	c.(400-402)GAA>AAA	p.E134K	CCDC151_uc002mrr.2_Missense_Mutation_p.E69K|CCDC151_uc010dxz.2_Intron	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	134	Potential.									ovary(1)	1						CACTTCCATTCGCGAATCACT	0.572												
DNASE2	1777	broad.mit.edu	37	19	12989513	12989513	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:12989513G>T	uc002mvn.1	-	4	628	c.482C>A	c.(481-483)TCT>TAT	p.S161Y	DNASE2_uc010xmr.1_Intron	NM_001375	NP_001366	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal precursor	161				Missing (in Ref. 8; AAB51172).	apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding				0						GAAGGGAAAAGACACACAGAG	0.552								Direct_reversal_of_damage				
NACC1	112939	broad.mit.edu	37	19	13249171	13249171	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:13249171C>T	uc002mwm.2	+	6	1703	c.1535C>T	c.(1534-1536)ACC>ATC	p.T512I		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	512					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						GGCTTCGAGACCGCCAGCCAC	0.637												
CACNA1A	773	broad.mit.edu	37	19	13616881	13616881	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:13616881G>A	uc010dze.2	-	1	394	c.158C>T	c.(157-159)GCG>GTG	p.A53V	CACNA1A_uc002mwy.3_Missense_Mutation_p.A53V	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	53	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGCTCTCTGCGCCATTGACTG	0.677												
PKN1	5585	broad.mit.edu	37	19	14574686	14574686	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:14574686G>A	uc002myp.2	+	11	1710	c.1542G>A	c.(1540-1542)ACG>ACA	p.T514T	PKN1_uc002myq.2_Silent_p.T520T	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	514					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						ATGTCGCCACGTGGGTGCGGC	0.672												
CASP14	23581	broad.mit.edu	37	19	15164693	15164693	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:15164693C>T	uc010dzv.1	+	4	635	c.327C>T	c.(325-327)TTC>TTT	p.F109F	CASP14_uc002naf.2_Silent_p.F109F	NM_012114	NP_036246	P31944	CASPE_HUMAN	caspase 14 precursor	109					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			skin(2)|ovary(1)|lung(1)	4						AGAATCTCTTCGAGGCCCTGA	0.562												
ILVBL	10994	broad.mit.edu	37	19	15234194	15234194	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:15234194C>T	uc002nam.2	-	3	450	c.329G>A	c.(328-330)CGC>CAC	p.R110H	ILVBL_uc010dzw.2_Missense_Mutation_p.R3H|ILVBL_uc010dzx.1_Missense_Mutation_p.R110H	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	110						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2						ACCGGACAGGCGGGCCATAGC	0.602												
NOTCH3	4854	broad.mit.edu	37	19	15291822	15291822	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:15291822G>A	uc002nan.2	-	18	3020	c.2944C>T	c.(2944-2946)CCT>TCT	p.P982S	NOTCH3_uc002nao.1_Missense_Mutation_p.P930S	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	982	Extracellular (Potential).|EGF-like 25.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGAAGCCAGGGTGGGCGGCG	0.637												
PGLYRP2	114770	broad.mit.edu	37	19	15580722	15580722	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:15580722G>A	uc002nbf.3	-	4	1495	c.1362C>T	c.(1360-1362)GAC>GAT	p.D454D	PGLYRP2_uc002nbg.3_Silent_p.D454D	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	454					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3						ACACGTAGCCGTCCGAGCCCA	0.682												
CYP4F3	4051	broad.mit.edu	37	19	15752234	15752234	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:15752234G>A	uc002nbj.2	+	2	59	c.9G>A	c.(7-9)CAG>CAA	p.Q3Q	CYP4F3_uc010xok.1_Silent_p.Q3Q|CYP4F3_uc010xol.1_Silent_p.Q3Q|CYP4F3_uc010xom.1_5'UTR|CYP4F3_uc002nbk.2_Silent_p.Q3Q	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	3					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						GGATGCCACAGCTGAGCCTGT	0.682												
OR10H3	26532	broad.mit.edu	37	19	15852474	15852474	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:15852474G>A	uc010xoq.1	+	1	272	c.272G>A	c.(271-273)CGT>CAT	p.R91H		NM_013938	NP_039226	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTCACCCATCGTTCCATCACC	0.498												
MED26	9441	broad.mit.edu	37	19	16689204	16689204	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:16689204G>A	uc002nen.1	-	2	350	c.89C>T	c.(88-90)GCG>GTG	p.A30V	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	30	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2						TTCCAGCACCGCCACCATGTT	0.557												
NWD1	284434	broad.mit.edu	37	19	16860051	16860051	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:16860051C>A	uc002neu.3	+	6	1020	c.598C>A	c.(598-600)CTT>ATT	p.L200I	NWD1_uc002net.3_Missense_Mutation_p.L65I|NWD1_uc002nev.3_5'UTR			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	200							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CAAACACATCCTTGAAGACTG	0.572												
SIN3B	23309	broad.mit.edu	37	19	16980660	16980660	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:16980660G>A	uc002ney.1	+	14	2306	c.2292G>A	c.(2290-2292)CCG>CCA	p.P764P	SIN3B_uc002nez.1_Silent_p.P732P|SIN3B_uc010xpi.1_Silent_p.P322P	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	764					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						CCCCAGCCCCGCACAAGCCCC	0.647												
F2RL3	9002	broad.mit.edu	37	19	17000890	17000890	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:17000890G>A	uc002nfa.2	+	2	791	c.616G>A	c.(616-618)GCC>ACC	p.A206T		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	206	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity				0						CATGGCGGCCGCCCTGGCACT	0.736												
ARRDC2	27106	broad.mit.edu	37	19	18120690	18120690	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:18120690G>T	uc002nhv.2	+	5	834	c.691G>T	c.(691-693)GGC>TGC	p.G231C	ARRDC2_uc002nhu.2_Missense_Mutation_p.G226C	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	231										pancreas(1)	1						CATGGCCCGAGGCGCCCGAAA	0.701												
PIK3R2	5296	broad.mit.edu	37	19	18280056	18280056	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:18280056G>A	uc002nia.1	+	16	2651	c.2139G>A	c.(2137-2139)GCG>GCA	p.A713A	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	713	SH2 2.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						TCACCCTGGCGCACCCAGTgc	0.567												
ISYNA1	51477	broad.mit.edu	37	19	18547246	18547246	+	Missense_Mutation	SNP	G	G	A	rs138096546		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:18547246G>A	uc002njd.1	-	6	703	c.653C>T	c.(652-654)GCG>GTG	p.A218V	ISYNA1_uc002nja.1_Missense_Mutation_p.A90V|ISYNA1_uc002njb.1_Missense_Mutation_p.A136V|ISYNA1_uc002njc.1_Missense_Mutation_p.A68V|ISYNA1_uc010xqh.1_Missense_Mutation_p.A16V|ISYNA1_uc002nje.1_Missense_Mutation_p.A164V|ISYNA1_uc002njf.1_Missense_Mutation_p.A68V	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	218					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2						GTCCAGCCCCGCGCTAGACCG	0.607												
NCAN	1463	broad.mit.edu	37	19	19349146	19349146	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:19349146C>T	uc002nlz.2	+	11	3434	c.3335C>T	c.(3334-3336)GCC>GTC	p.A1112V	NCAN_uc010ecc.1_Missense_Mutation_p.A676V|NCAN_uc002nma.2_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1112	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			TGGGAAGATGCCGAGAAGGAC	0.632												
TM6SF2	53345	broad.mit.edu	37	19	19379477	19379477	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:19379477T>C	uc002nmd.1	-	6	621	c.571A>G	c.(571-573)AGC>GGC	p.S191G	HAPLN4_uc002nmc.2_Intron	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	191						integral to membrane					0			Epithelial(12;0.0151)			CGGGGCTGGCTGAAGACCTTC	0.597												
GATAD2A	54815	broad.mit.edu	37	19	19612199	19612199	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:19612199G>A	uc010xqt.1	+	9	1786	c.1474G>A	c.(1474-1476)GCT>ACT	p.A492T	GATAD2A_uc010xqu.1_Missense_Mutation_p.A121T|GATAD2A_uc010xqv.1_Missense_Mutation_p.A512T|GATAD2A_uc010xqw.1_Missense_Mutation_p.A320T	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	492					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGAGCCCACCGCTGCCCCACA	0.701												
TSSK6	83983	broad.mit.edu	37	19	19625898	19625898	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:19625898G>A	uc002nmr.2	-	1	572	c.339C>T	c.(337-339)CGC>CGT	p.R113R	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	113	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						CAAAGAGGTCGCGCGCCTGAA	0.657												
CILP2	148113	broad.mit.edu	37	19	19652013	19652013	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:19652013C>T	uc002nmv.3	+	4	635	c.550C>T	c.(550-552)CGT>TGT	p.R184C	CILP2_uc002nmw.3_Missense_Mutation_p.R190C	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	184	TSP type-1.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GTGTCCCGGGCGTCCTCTGGA	0.731												
ZNF208	7757	broad.mit.edu	37	19	22154770	22154770	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:22154770A>C	uc002nqp.2	-	6	2831	c.2682T>G	c.(2680-2682)ATT>ATG	p.I894M	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCCAGTGTGAATTTTCTTAT	0.408												
ZNF208	7757	broad.mit.edu	37	19	22155401	22155401	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:22155401T>G	uc002nqp.2	-	5	2284	c.2135A>C	c.(2134-2136)AAA>ACA	p.K712T	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTAAAGGTTTTGCCACATTC	0.373												
ZNF536	9745	broad.mit.edu	37	19	30936168	30936168	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:30936168G>A	uc002nsu.1	+	2	1837	c.1699G>A	c.(1699-1701)GTG>ATG	p.V567M	ZNF536_uc010edd.1_Missense_Mutation_p.V567M	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	567					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)					GCGGGAGTACGTGTTAGTGGG	0.532												
ANKRD27	84079	broad.mit.edu	37	19	33089060	33089060	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:33089060G>A	uc002ntn.1	-	29	3300	c.3144C>T	c.(3142-3144)TCC>TCT	p.S1048S		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	1048					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					GTTAGGACCGGGAAGCACTAA	0.562												
LRP3	4037	broad.mit.edu	37	19	33697631	33697631	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:33697631G>A	uc010edh.2	+	6	1810	c.1717G>A	c.(1717-1719)GCG>ACG	p.A573T	LRP3_uc010xrp.1_3'UTR|LRP3_uc002nuk.3_Missense_Mutation_p.A447T	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	573	Cytoplasmic (Potential).				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					TGTCTACAGTGCGTCCCAGGT	0.677												
KIAA0355	9710	broad.mit.edu	37	19	34830835	34830835	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:34830835C>T	uc002nvd.3	+	9	2284	c.1425C>T	c.(1423-1425)ACC>ACT	p.T475T		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	475										ovary(1)	1	Esophageal squamous(110;0.162)					CTGAGAAGACCCTGGGTCTAG	0.537												
UBA2	10054	broad.mit.edu	37	19	34929578	34929578	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:34929578C>A	uc002nvk.2	+	6	558	c.488C>A	c.(487-489)CCT>CAT	p.P163H	UBA2_uc010xrx.1_Missense_Mutation_p.P36H|UBA2_uc002nvl.2_Missense_Mutation_p.P67H	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	163					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAGTGTCATCCTAAGCCGACC	0.403												
GRAMD1A	57655	broad.mit.edu	37	19	35504472	35504472	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:35504472C>T	uc010xse.1	+	9	884	c.747C>T	c.(745-747)ATC>ATT	p.I249I	GRAMD1A_uc002nxi.1_Silent_p.I336I|GRAMD1A_uc002nxk.2_Silent_p.I242I|GRAMD1A_uc002nxl.2_Silent_p.I15I|GRAMD1A_uc010xsf.1_Silent_p.I254I|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_5'Flank	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A isoform 1	249						integral to membrane					0	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGATGTGATCGCCCTGAGCG	0.637												
SCN1B	6324	broad.mit.edu	37	19	35524610	35524610	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:35524610G>A	uc002nxp.2	+	3	606	c.415G>A	c.(415-417)GTC>ATC	p.V139I	SCN1B_uc002nxo.1_Missense_Mutation_p.V139I|SCN1B_uc010xsg.1_Intron	NM_001037	NP_001028	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta	139	Extracellular (Potential).|Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CACCAGCGTCGTCAAGAAGAT	0.552												
DMKN	93099	broad.mit.edu	37	19	36003673	36003673	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36003673C>T	uc002nzm.3	-	2	629	c.446G>A	c.(445-447)GGC>GAC	p.G149D	DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Missense_Mutation_p.G149D|DMKN_uc002nzn.3_Missense_Mutation_p.G149D|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_5'Flank|DMKN_uc002oac.3_Missense_Mutation_p.G149D|DMKN_uc010eeb.2_Missense_Mutation_p.G149D|DMKN_uc002oaa.3_Missense_Mutation_p.G149D|DMKN_uc002oab.3_Missense_Mutation_p.G149D	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	149	Gly-rich.					extracellular region				large_intestine(1)|ovary(1)|skin(1)	3	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCAAAGATGCCATGGCCTCC	0.572												
ATP4A	495	broad.mit.edu	37	19	36047927	36047927	+	Missense_Mutation	SNP	G	G	A	rs61742920		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36047927G>A	uc002oal.1	-	12	1786	c.1757C>T	c.(1756-1758)GCC>GTC	p.A586V	ATP4A_uc010eee.1_Intron	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	586	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)	AAAGTTCATGGCCTCTACGTC	0.592												
HAUS5	23354	broad.mit.edu	37	19	36113615	36113615	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36113615G>A	uc002oam.1	+	18	1815	c.1764G>A	c.(1762-1764)CTG>CTA	p.L588L		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	588	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0						TCCCTGAGCTGCAGGGGATCG	0.582												
MLL4	9757	broad.mit.edu	37	19	36221296	36221296	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36221296C>T	uc010eei.2	+	25	5130	c.5130C>T	c.(5128-5130)TTC>TTT	p.F1710F		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1710					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)			ATGTGGACTTCGAGGGCATCA	0.562												
PRODH2	58510	broad.mit.edu	37	19	36303305	36303305	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36303305C>T	uc002obx.1	-	3	574	c.556G>A	c.(556-558)GCA>ACA	p.A186T		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	186					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGGGCACTGCCAGCAGTGGT	0.657												
LRFN3	79414	broad.mit.edu	37	19	36431360	36431360	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36431360G>A	uc002oco.2	+	2	1485	c.1033G>A	c.(1033-1035)GCC>ACC	p.A345T		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	345	Extracellular (Potential).|Ig-like.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGTGCCCGCGCCTTCCCCAA	0.701												
WDR62	284403	broad.mit.edu	37	19	36564323	36564323	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36564323T>A	uc002odc.2	+	9	1214	c.1123T>A	c.(1123-1125)TCC>ACC	p.S375T	WDR62_uc002odd.2_Missense_Mutation_p.S375T|WDR62_uc002odb.2_Missense_Mutation_p.S375T	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	375	WD 5.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCAGTGGCTGTCCTGCGTGTA	0.537												
WDR62	284403	broad.mit.edu	37	19	36595902	36595902	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36595902C>T	uc002odc.2	+	32	4620	c.4529C>T	c.(4528-4530)GCC>GTC	p.A1510V	WDR62_uc002odd.2_Missense_Mutation_p.A1515V	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1510					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTGGTGCAGGCCGTGCGGAGG	0.657												
ZNF585B	92285	broad.mit.edu	37	19	37677527	37677527	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:37677527G>A	uc002ofq.2	-	5	1166	c.912C>T	c.(910-912)GGC>GGT	p.G304G	uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Silent_p.G118G	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	304	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAAGGATTTGCCACAGTTAT	0.408												
ZNF540	163255	broad.mit.edu	37	19	38104037	38104037	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38104037A>C	uc002ogq.2	+	5	2188	c.1856A>C	c.(1855-1857)AAT>ACT	p.N619T	ZNF540_uc002ogu.2_Missense_Mutation_p.N619T|ZNF540_uc010efq.2_Missense_Mutation_p.N587T	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	619	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTAGACTTAATTCACACCTT	0.378												
DPF1	8193	broad.mit.edu	37	19	38704344	38704344	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38704344G>T	uc002ohl.2	-	9	927	c.900C>A	c.(898-900)ACC>ACA	p.T300T	DPF1_uc002ohm.2_Silent_p.T344T|DPF1_uc002ohn.2_Silent_p.T262T|DPF1_uc010xtu.1_Silent_p.T318T|DPF1_uc010xtv.1_Silent_p.T318T	NM_004647	NP_004638	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	300	PHD-type 1.				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCAGCGGTAGGTCCGCACGG	0.672												
PPP1R14A	94274	broad.mit.edu	37	19	38742041	38742041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38742041G>A	uc002ohq.2	-	4	554	c.361C>T	c.(361-363)CAG>TAG	p.Q121*	PPP1R14A_uc010efv.2_Nonsense_Mutation_p.Q94*	NM_033256	NP_150281	Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	121					regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity				0	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGCCGGGCTGCCTGTGGAGG	0.682												
GGN	199720	broad.mit.edu	37	19	38876775	38876775	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38876775G>A	uc002oij.1	-	3	1262	c.1127C>T	c.(1126-1128)CCG>CTG	p.P376L	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.P293L	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	376	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACGCCGTCGCGGCGCCCCGAT	0.711												
SPRED3	399473	broad.mit.edu	37	19	38882863	38882863	+	Missense_Mutation	SNP	C	C	T	rs151129136	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38882863C>T	uc002oim.2	+	3	362	c.358C>T	c.(358-360)CCC>TCC	p.P120S	SPRED3_uc002oil.1_Missense_Mutation_p.P120S	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	120	Ser-rich.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCACTCAccccctcctcctc	0.542												
RYR1	6261	broad.mit.edu	37	19	38959605	38959605	+	Splice_Site	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38959605G>T	uc002oit.2	+	26	3512	c.3382_splice	c.e26-1	p.G1128_splice	RYR1_uc002oiu.2_Splice_Site_p.G1128_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGTCCTCACAGGGCCAGCGCT	0.542												
RYR1	6261	broad.mit.edu	37	19	38985048	38985048	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38985048G>A	uc002oit.2	+	39	6461	c.6331G>A	c.(6331-6333)GTG>ATG	p.V2111M	RYR1_uc002oiu.2_Missense_Mutation_p.V2111M|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2111	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGAGGACTTCGTGCAGAGCCC	0.667												
RYR1	6261	broad.mit.edu	37	19	38987086	38987086	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38987086G>A	uc002oit.2	+	41	6831	c.6701G>A	c.(6700-6702)CGC>CAC	p.R2234H	RYR1_uc002oiu.2_Missense_Mutation_p.R2234H|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2234	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCTGCTGCCGCTTCCTCTGC	0.627												
CAPN12	147968	broad.mit.edu	37	19	39230725	39230725	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39230725A>C	uc002ojd.1	-	5	1004	c.695T>G	c.(694-696)CTG>CGG	p.L232R		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	232	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)			CTCCTTGGCCAGGGCATGGCG	0.617												
LGALS4	3960	broad.mit.edu	37	19	39303125	39303125	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39303125A>G	uc002ojg.2	-	2	294	c.80T>C	c.(79-81)CTC>CCC	p.L27P	LGALS4_uc010xuj.1_Missense_Mutation_p.L27P	NM_006149	NP_006140	P56470	LEG4_HUMAN	galectin-4	27	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCCCACGTTGAGCCCGCCCGG	0.617												
RINL	126432	broad.mit.edu	37	19	39359891	39359891	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39359891G>T	uc002ojq.2	-	11	1680	c.1292C>A	c.(1291-1293)GCC>GAC	p.A431D	RINL_uc002ojr.1_Missense_Mutation_p.A66D|RINL_uc010xuo.1_Missense_Mutation_p.A545D	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	431							GTPase activator activity			pancreas(1)	1						AGTCACCTGGGCTCTGGGATG	0.662												
SIRT2	22933	broad.mit.edu	37	19	39374291	39374291	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39374291C>T	uc002ojt.1	-	9	807	c.607G>A	c.(607-609)GAA>AAA	p.E203K	SIRT2_uc010egh.1_Missense_Mutation_p.E166K|SIRT2_uc010egi.1_Missense_Mutation_p.E166K|SIRT2_uc002ojs.1_Missense_Mutation_p.E183K|SIRT2_uc002oju.1_Missense_Mutation_p.E166K|SIRT2_uc010egj.1_Missense_Mutation_p.E166K|SIRT2_uc002ojv.1_Missense_Mutation_p.E201K	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	sirtuin 2 isoform 1	203	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			AGCGGGTATTCGTGCCGGCAG	0.617												
SIRT2	22933	broad.mit.edu	37	19	39380364	39380364	+	Missense_Mutation	SNP	C	C	T	rs150309258	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39380364C>T	uc002ojt.1	-	7	597	c.397G>A	c.(397-399)GCC>ACC	p.A133T	SIRT2_uc010egh.1_Missense_Mutation_p.A96T|SIRT2_uc010egi.1_Missense_Mutation_p.A96T|SIRT2_uc002ojs.1_Missense_Mutation_p.A113T|SIRT2_uc002oju.1_Missense_Mutation_p.A96T|SIRT2_uc010egj.1_Missense_Mutation_p.A96T|SIRT2_uc002ojv.1_Missense_Mutation_p.A131T	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	sirtuin 2 isoform 1	133	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TTGGCGAGGGCGAAGAAGGGT	0.602												
SAMD4B	55095	broad.mit.edu	37	19	39860748	39860748	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39860748G>T	uc002olb.2	+	6	1685	c.650G>T	c.(649-651)GGG>GTG	p.G217V	SAMD4B_uc002ola.2_Missense_Mutation_p.G217V	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	217							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AACAGTATTGGGAGCAATGCA	0.597												
SAMD4B	55095	broad.mit.edu	37	19	39871333	39871333	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39871333G>A	uc002olb.2	+	13	2791	c.1756G>A	c.(1756-1758)GGC>AGC	p.G586S	SAMD4B_uc002ola.2_Missense_Mutation_p.G586S	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	586							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCTCCCACCCGGCCGGATGGG	0.697												
TIMM50	92609	broad.mit.edu	37	19	39978787	39978787	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39978787C>A	uc002olu.1	+	9	1225	c.1092C>A	c.(1090-1092)GGC>GGA	p.G364G	TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_Silent_p.G63G	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	261	Mitochondrial intermembrane (Potential).|FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTATAACGGCGTTGCCCTGC	0.562												
DYRK1B	9149	broad.mit.edu	37	19	40317948	40317948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:40317948G>A	uc002omj.2	-	8	1352	c.1072C>T	c.(1072-1074)CGA>TGA	p.R358*	DYRK1B_uc002omi.2_Nonsense_Mutation_p.R358*|DYRK1B_uc002omk.2_Nonsense_Mutation_p.R358*	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	358	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	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)			TTCGTCCTTCGTAGGGTCCAG	0.602												
PSMC4	5704	broad.mit.edu	37	19	40478408	40478408	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:40478408G>A	uc002omq.2	+	3	305	c.268G>A	c.(268-270)GGA>AGA	p.G90R	PSMC4_uc002omr.2_Missense_Mutation_p.G59R	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	90					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCTGGTCATCGGACAATTTCT	0.478												
PSMC4	5704	broad.mit.edu	37	19	40480240	40480240	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:40480240G>A	uc002omq.2	+	4	399	c.362G>A	c.(361-363)CGG>CAG	p.R121Q	PSMC4_uc002omr.2_Missense_Mutation_p.R90Q	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	121					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			ovary(1)	1	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACCATCGATCGGGAGCTGCTC	0.592												
SPTBN4	57731	broad.mit.edu	37	19	41078036	41078036	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:41078036G>A	uc002ony.2	+	34	7517	c.7431G>A	c.(7429-7431)CTG>CTA	p.L2477L	SPTBN4_uc002onz.2_Silent_p.L2477L|SPTBN4_uc010egx.2_Silent_p.L1220L	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2477	PH.				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)			TGCTCAGCCTGCACAAGGCCA	0.597												
EGLN2	112398	broad.mit.edu	37	19	41306843	41306843	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:41306843C>A	uc010ehd.2	+	8	1367	c.366C>A	c.(364-366)GCC>GCA	p.A122A	EGLN2_uc002opg.3_Silent_p.A122A|EGLN2_uc002oph.2_Silent_p.A122A|EGLN2_uc002opi.2_Silent_p.A122A	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	EGL nine (C.elegans) homolog 2	122					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid 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|oxygen sensor activity			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GGAAATGGGCCGAGGATGGTG	0.682												
CYP2A7	1549	broad.mit.edu	37	19	41387591	41387591	+	Silent	SNP	A	A	G	rs146515750		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:41387591A>G	uc002opm.2	-	2	788	c.246T>C	c.(244-246)TGT>TGC	p.C82C	CYP2A7_uc002opo.2_Silent_p.C82C|CYP2A7_uc002opn.2_Intron	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	82						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CATCATGTCCACACAGCACCA	0.617												
CEACAM3	1084	broad.mit.edu	37	19	42312872	42312872	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42312872C>A	uc002orn.1	+	3	522	c.446C>A	c.(445-447)CCT>CAT	p.P149H	CEACAM3_uc010eia.1_Missense_Mutation_p.P149H|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	149	Extracellular (Potential).					integral to membrane				skin(1)	1						CCAGGCCTTCCTGTGGGGGCC	0.612												
ATP1A3	478	broad.mit.edu	37	19	42471893	42471893	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42471893G>A	uc002osg.2	-	21	2996	c.2842C>T	c.(2842-2844)CTG>TTG	p.L948L	ATP1A3_uc010xwf.1_Silent_p.L959L|ATP1A3_uc010xwg.1_Silent_p.L918L|ATP1A3_uc010xwh.1_Silent_p.L961L|ATP1A3_uc002osh.2_Silent_p.L948L	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	948	Helical; (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						TCCTCAAACAGCCCGAAGATC	0.667												
ZNF574	64763	broad.mit.edu	37	19	42584754	42584754	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42584754C>T	uc002osm.3	+	2	2165	c.1996C>T	c.(1996-1998)CGC>TGC	p.R666C	ZNF574_uc002osk.3_Missense_Mutation_p.R756C	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	666	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GGCCCCACGGCGCTTTGAGTG	0.706												
ZNF574	64763	broad.mit.edu	37	19	42585195	42585195	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42585195C>T	uc002osm.3	+	2	2606	c.2437C>T	c.(2437-2439)CGC>TGC	p.R813C	ZNF574_uc002osk.3_Missense_Mutation_p.R903C	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	813	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GGCAGAACATCGCCGCATCCA	0.612												
CIC	23152	broad.mit.edu	37	19	42799154	42799154	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42799154C>A	uc002otf.1	+	20	4678	c.4638C>A	c.(4636-4638)GCC>GCA	p.A1546A		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1546	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				ccgctgctgcccctgccccca	0.244			T	DUX4	soft tissue sarcoma							
MEGF8	1954	broad.mit.edu	37	19	42855624	42855624	+	Missense_Mutation	SNP	G	G	A	rs143160271		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42855624G>A	uc002otl.3	+	16	3333	c.2698G>A	c.(2698-2700)GCC>ACC	p.A900T	MEGF8_uc002otm.3_Missense_Mutation_p.A508T	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	967	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TAGCCAGTGCGCCTGGTGCCA	0.662												
CEACAM1	634	broad.mit.edu	37	19	43026264	43026264	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:43026264T>C	uc002otv.2	-	3	628	c.515A>G	c.(514-516)CAG>CGG	p.Q172R	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Missense_Mutation_p.Q172R|CEACAM1_uc010eij.2_Missense_Mutation_p.Q172R|CEACAM1_uc002otx.2_Missense_Mutation_p.Q172R|CEACAM1_uc002oty.2_Missense_Mutation_p.Q172R|CEACAM1_uc002otz.2_Missense_Mutation_p.Q172R|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.Q172R|CEACAM1_uc002oub.2_Missense_Mutation_p.Q172R|CEACAM1_uc002ouc.2_Missense_Mutation_p.Q172R	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	172	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GGTTGTGTCCTGAGTCTCAGG	0.562												
CEACAM1	634	broad.mit.edu	37	19	43032516	43032516	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:43032516A>C	uc002otv.2	-	1	124	c.11T>G	c.(10-12)CTC>CGC	p.L4R	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc002otw.2_Missense_Mutation_p.L4R|CEACAM1_uc010eij.2_Missense_Mutation_p.L4R|CEACAM1_uc002otx.2_Missense_Mutation_p.L4R|CEACAM1_uc002oty.2_Missense_Mutation_p.L4R|CEACAM1_uc002otz.2_Missense_Mutation_p.L4R|CEACAM1_uc010eik.2_Missense_Mutation_p.L4R|CEACAM1_uc002oua.2_Missense_Mutation_p.L4R|CEACAM1_uc002oub.2_Missense_Mutation_p.L4R|CEACAM1_uc002ouc.2_Missense_Mutation_p.L4R	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	4					angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	TGGGGCTGAGAGGTGCCCCAT	0.637												
PSG3	5671	broad.mit.edu	37	19	43237119	43237119	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:43237119C>T	uc002oue.2	-	3	658	c.526G>A	c.(526-528)GCA>ACA	p.A176T	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.A198T	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	176	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				AGGTAGCTTGCGTCCGGAGTC	0.517												
PSG1	5669	broad.mit.edu	37	19	43372430	43372430	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:43372430C>T	uc002ovb.2	-	5	1204	c.1066G>A	c.(1066-1068)GCG>ACG	p.A356T	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.A356T|PSG1_uc010eio.1_Missense_Mutation_p.A356T|PSG1_uc002oux.1_Missense_Mutation_p.A285T|PSG1_uc002ouy.1_Missense_Mutation_p.A263T|PSG1_uc002ouz.1_Missense_Mutation_p.A356T|PSG1_uc002ova.1_Missense_Mutation_p.A263T|PSG1_uc002ovc.2_Missense_Mutation_p.A263T|PSG1_uc002ovd.1_Missense_Mutation_p.A356T	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	356	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				TTAGAGTCCGCAGAACAGGAC	0.443												
PSG1	5669	broad.mit.edu	37	19	43383721	43383721	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:43383721A>T	uc002ovb.2	-	1	151	c.13T>A	c.(13-15)TCA>ACA	p.S5T	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.S5T|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.S5T|PSG1_uc010eio.1_Missense_Mutation_p.S5T|PSG1_uc002oux.1_5'Flank|PSG1_uc002ouy.1_Missense_Mutation_p.S5T|PSG1_uc002ouz.1_Missense_Mutation_p.S5T|PSG1_uc002ova.1_Missense_Mutation_p.S5T|PSG1_uc002ovc.2_Missense_Mutation_p.S5T|PSG1_uc002ovd.1_Missense_Mutation_p.S5T	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	5					female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				GGAGGGGCTGAGAGGGTTCCC	0.567												
PSG5	5673	broad.mit.edu	37	19	43674287	43674287	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:43674287G>A	uc002ovu.2	-	5	1099	c.968C>T	c.(967-969)CCT>CTT	p.P323L	PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.P198L|PSG5_uc002ovx.2_Missense_Mutation_p.P323L|PSG5_uc002ovv.2_Missense_Mutation_p.P416L|PSG5_uc002ovw.2_Missense_Mutation_p.P145L	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	323					female pregnancy	extracellular region				skin(3)	3		Prostate(69;0.00899)				TATTCCTGAAGGAGCTGTCAT	0.423												
CADM4	199731	broad.mit.edu	37	19	44131874	44131874	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:44131874G>A	uc002oxc.1	-	2	182	c.133C>T	c.(133-135)CGT>TGT	p.R45C		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4 precursor	45	Ig-like V-type.|Extracellular (Potential).				cell adhesion	integral to membrane					0		Prostate(69;0.0199)				TGGTGCAGACGGCAGGTGATC	0.567												
ZNF283	284349	broad.mit.edu	37	19	44341288	44341288	+	Silent	SNP	C	C	T	rs145411708	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:44341288C>T	uc002oxr.3	+	6	562	c.294C>T	c.(292-294)TAC>TAT	p.Y98Y	ZNF283_uc002oxp.3_Intron	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	98	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				GGGACTTGTACGTGGATGTAA	0.468												
BCAM	4059	broad.mit.edu	37	19	45315607	45315607	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:45315607C>T	uc002ozu.2	+	3	436	c.392C>T	c.(391-393)GCG>GTG	p.A131V	BCAM_uc002ozt.1_Missense_Mutation_p.A131V	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	131	Extracellular (Potential).|Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGGGCAGGGGCGGCAGGCACT	0.706												
PVRL2	5819	broad.mit.edu	37	19	45375403	45375403	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:45375403C>T	uc002ozw.1	+	3	1162	c.772C>T	c.(772-774)CGC>TGC	p.R258C	PVRL2_uc002ozv.2_Missense_Mutation_p.R258C	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	258	Extracellular (Potential).				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCTCTCTGTACGCTGTGAGTG	0.557												
APOE	348	broad.mit.edu	37	19	45411901	45411901	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:45411901G>T	uc002pab.2	+	4	431	c.348G>T	c.(346-348)CAG>CAT	p.Q116H		NM_000041	NP_000032	P02649	APOE_HUMAN	apolipoprotein E precursor	116	8 X 22 AA approximate tandem repeats.|2.				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGGAGCTGCAGGCGGCGCAGG	0.682												
APOC4	346	broad.mit.edu	37	19	45448424	45448424	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:45448424G>A	uc002pag.1	+	3	286	c.246G>A	c.(244-246)ATG>ATA	p.M82I	APOC2_uc002pah.2_5'Flank	NM_001646	NP_001637	P55056	APOC4_HUMAN	apolipoprotein C-IV precursor	82					lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)	1	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		GGGGCTTCATGCAGACCTACT	0.592												
NKPD1	284353	broad.mit.edu	37	19	45655437	45655437	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:45655437C>T	uc010xxi.1	-	4	2258	c.2258G>A	c.(2257-2259)CGC>CAC	p.R753H		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GAGACCCATGCGCCGGCGGAT	0.716												
NKPD1	284353	broad.mit.edu	37	19	45655898	45655898	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:45655898C>A	uc010xxi.1	-	4	1797	c.1797G>T	c.(1795-1797)GAG>GAT	p.E599D		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		AGAAGAGCGCCTCCTGGATTC	0.716												
PPM1N	147699	broad.mit.edu	37	19	46002505	46002505	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:46002505G>A	uc002pce.2	+	1	775	c.775G>A	c.(775-777)GCA>ACA	p.A259T	RTN2_uc002pcb.2_5'Flank|RTN2_uc002pcc.2_5'Flank|RTN2_uc002pcd.2_5'Flank|PPM1N_uc002pcf.2_5'Flank	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	protein phosphatase 1B-like	259	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity				0						AGAGGTGGCCGCACTGGCACG	0.662												
DMPK	1760	broad.mit.edu	37	19	46274916	46274916	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:46274916G>A	uc002pdd.1	-	11	2084	c.1540C>T	c.(1540-1542)CGC>TGC	p.R514C	SIX5_uc002pdb.2_5'Flank|SIX5_uc002pdc.2_5'Flank|DMPK_uc010xxs.1_Missense_Mutation_p.R415C|DMPK_uc002pde.1_Missense_Mutation_p.R509C|DMPK_uc002pdf.1_Missense_Mutation_p.R504C|DMPK_uc002pdg.1_Missense_Mutation_p.R499C|DMPK_uc002pdh.1_Missense_Mutation_p.R499C|DMPK_uc002pdi.1_Missense_Mutation_p.R530C|DMPK_uc010xxt.1_Missense_Mutation_p.R499C	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	514					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TCTGCCTCGCGTAGTTGACTG	0.602												
NANOS2	339345	broad.mit.edu	37	19	46417622	46417622	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:46417622C>T	uc002pdu.2	-	1	415	c.330G>A	c.(328-330)ACG>ACA	p.T110T		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	nanos homolog 2	110	Nanos-type.|C2HC 2.				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding				0		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		AGTACTTGAGCGTATGGGCCT	0.657												
HIF3A	64344	broad.mit.edu	37	19	46832549	46832549	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:46832549C>A	uc002peh.2	+	12	1555	c.1526C>A	c.(1525-1527)CCC>CAC	p.P509H	HIF3A_uc002peg.3_Missense_Mutation_p.P509H|HIF3A_uc002pei.3_Missense_Mutation_p.P453H|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.P453H|HIF3A_uc010xxy.1_Missense_Mutation_p.P440H|HIF3A_uc002pel.2_Missense_Mutation_p.P507H|HIF3A_uc010xxz.1_Missense_Mutation_p.P458H	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	509	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GAGCAGCTACCCAGGGCCTAC	0.647												
STRN4	29888	broad.mit.edu	37	19	47228903	47228903	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:47228903C>T	uc002pfl.2	-	10	1284	c.1251G>A	c.(1249-1251)CTG>CTA	p.L417L	STRN4_uc002pfm.2_Silent_p.L424L|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	417						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGCTGTCAGACAGCTGGGGTT	0.597												
NPAS1	4861	broad.mit.edu	37	19	47548495	47548495	+	Silent	SNP	C	C	T	rs147026903		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:47548495C>T	uc002pfw.2	+	12	1555	c.1359C>T	c.(1357-1359)AAC>AAT	p.N453N	NPAS1_uc002pfx.2_Silent_p.N278N|NPAS1_uc002pfy.2_Silent_p.N453N|NPAS1_uc010xyj.1_3'UTR	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	453					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CAGCGGAGAACGAGGCCCCCC	0.662												
ZC3H4	23211	broad.mit.edu	37	19	47572412	47572412	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:47572412C>G	uc002pga.3	-	14	2373	c.2335G>C	c.(2335-2337)GAG>CAG	p.E779Q	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	779	Potential.						nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCCTCCTCCTGCTGCTTC	0.701												
GRWD1	83743	broad.mit.edu	37	19	48954305	48954305	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:48954305C>T	uc002pjd.2	+	6	1073	c.840C>T	c.(838-840)TGC>TGT	p.C280C		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	280	WD 2.					nucleolus				ovary(1)	1		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;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TTGCCTCCTGCTCAGCTGACG	0.647												
CYTH2	9266	broad.mit.edu	37	19	48982465	48982465	+	Nonstop_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:48982465T>C	uc002pjj.3	+	13	1501	c.1201T>C	c.(1201-1203)TGA>CGA	p.*401R	CYTH2_uc002pji.2_RNA	NM_017457	NP_059431	Q99418	CYH2_HUMAN	cytohesin 2 isoform 1	401					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1						GGAGCAGCCCTGACCCCCTGC	0.607												
SPACA4	171169	broad.mit.edu	37	19	49110512	49110512	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:49110512G>A	uc002pjo.2	+	1	513	c.277G>A	c.(277-279)GGC>AGC	p.G93S	FAM83E_uc002pjn.2_Intron	NM_133498	NP_598005	Q8TDM5	SACA4_HUMAN	sperm acrosomal membrane protein 14 precursor	93	UPAR/Ly6 1.				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(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;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CTGCTGCACCGGCCGCCTGTG	0.647												
CA11	770	broad.mit.edu	37	19	49142188	49142188	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:49142188C>T	uc002pjz.1	-	8	1480	c.918G>A	c.(916-918)CGG>CGA	p.R306R	SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	NM_001217	NP_001208	O75493	CAH11_HUMAN	carbonic anhydrase XI precursor	306						extracellular region					0		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;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		TCTCGGGGTGCCGGGGGTCCC	0.632												
LHB	3972	broad.mit.edu	37	19	49519339	49519339	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:49519339G>T	uc002plt.2	-	3	421	c.412C>A	c.(412-414)CTC>ATC	p.L138I		NM_000894	NP_000885	P01229	LSHB_HUMAN	luteinizing hormone beta subunit precursor	138					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity				0		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	AGGAAGAGGAGGCCTGAGAGT	0.622												
SLC17A7	57030	broad.mit.edu	37	19	49933845	49933845	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:49933845C>T	uc002pnp.2	-	12	1786	c.1614G>A	c.(1612-1614)CCG>CCA	p.P538P	SLC17A7_uc002pno.2_Silent_p.P200P	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	538	Cytoplasmic (Potential).|Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CATAGGAGGGCGGGGGTGCAG	0.647												
RPL13A	23521	broad.mit.edu	37	19	49993780	49993780	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:49993780G>A	uc002pny.2	+	4	225	c.203G>A	c.(202-204)CGA>CAA	p.R68Q	RPL13A_uc002pnz.2_Missense_Mutation_p.R7Q|RPL13A_uc002poa.2_Missense_Mutation_p.R58Q|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	ribosomal protein L13a	68					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		AACCCTTCCCGAGGCCCCTAC	0.657												
FCGRT	2217	broad.mit.edu	37	19	50017697	50017697	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:50017697C>T	uc002poe.2	+	4	1041	c.555C>T	c.(553-555)CGC>CGT	p.R185R	FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Silent_p.R185R|FCGRT_uc002pof.1_Silent_p.R90R|FCGRT_uc010yax.1_Silent_p.R185R|FCGRT_uc002poh.1_Silent_p.R45R	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	185	Extracellular (Potential).|Alpha-2.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			ovary(1)	1		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)		GCCCGCACCGCCTGCGGGAGC	0.667												
NOSIP	51070	broad.mit.edu	37	19	50063289	50063289	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:50063289C>A	uc002pok.2	-	4	230	c.78G>T	c.(76-78)TCG>TCT	p.S26S	NOSIP_uc002pol.2_Silent_p.S26S|NOSIP_uc010yay.1_RNA	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	26					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			skin(1)	1		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;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TCCCATAGCCCGAGGCCGCTG	0.607												
IRF3	3661	broad.mit.edu	37	19	50166731	50166731	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:50166731T>C	uc010end.1	-	3	588	c.206A>G	c.(205-207)GAT>GGT	p.D69G	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Missense_Mutation_p.D69G|IRF3_uc002pox.1_Missense_Mutation_p.D69G|IRF3_uc002poy.1_Missense_Mutation_p.D69G|IRF3_uc002pou.2_Missense_Mutation_p.D69G|IRF3_uc002pov.2_5'UTR|IRF3_uc002pow.2_Missense_Mutation_p.D69G|IRF3_uc002poz.1_Missense_Mutation_p.D69G|IRF3_uc010ene.1_Intron|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	69	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	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;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		GTCTGGCTTATCCCTCCCGGG	0.612												
NAPSA	9476	broad.mit.edu	37	19	50862846	50862846	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:50862846T>C	uc002prx.2	-	7	903	c.850A>G	c.(850-852)ACG>GCG	p.T284A	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	284					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GACGTGCCCGTATCCAGGATG	0.637												
ASPDH	554235	broad.mit.edu	37	19	51015393	51015393	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51015393C>A	uc010enz.2	-	6	870	c.808G>T	c.(808-810)GCC>TCC	p.A270S	JOSD2_uc002psn.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.3_Missense_Mutation_p.A165S	NM_001114598	NP_001108070	A6ND91	ASPD_HUMAN	aspartate dehydrogenase isoform 1	270					NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding				0						CTGGCCGCACCCAGGAGGCTC	0.672												
SHANK1	50944	broad.mit.edu	37	19	51191207	51191207	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51191207C>A	uc002psx.1	-	17	2300	c.2281G>T	c.(2281-2283)GAC>TAC	p.D761Y	SHANK1_uc002psw.1_Missense_Mutation_p.D145Y	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	761					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCATCCATGTCCGGGTGCCTG	0.637												
KLK15	55554	broad.mit.edu	37	19	51330242	51330242	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51330242C>T	uc002ptl.2	-	3	404	c.373G>A	c.(373-375)GCG>ACG	p.A125T	KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.A125T|KLK15_uc002pto.2_Missense_Mutation_p.A124T|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.A124T|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	125	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)		GGTAGCACCGCGGGGCGCACC	0.711												
KLK8	11202	broad.mit.edu	37	19	51503766	51503766	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51503766C>T	uc002pur.1	-	3	323	c.144G>A	c.(142-144)GCG>GCA	p.A48A	KLK9_uc002puw.1_RNA|KLK8_uc002puq.1_Silent_p.A93A|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.A48A|KLK9_uc002puv.1_Intron	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	48	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGAACAAGGCCGCCTGCCAAG	0.597												
KLK9	284366	broad.mit.edu	37	19	51507070	51507070	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51507070C>T	uc002pux.1	-	4	580	c.493G>A	c.(493-495)GCC>ACC	p.A165T	KLK9_uc002puw.1_RNA|KLK9_uc010eol.1_Missense_Mutation_p.A136T|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'Flank|KLK9_uc002puv.1_RNA	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9 precursor	165	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CTGATGTTGGCACACTGCAGT	0.582												
IGLON5	402665	broad.mit.edu	37	19	51830340	51830340	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51830340C>T	uc002pwc.2	+	6	653	c.653C>T	c.(652-654)CCG>CTG	p.P218L		NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN	IgLON family member 5 precursor	218	Ig-like C2-type 3.					extracellular region					0						CCAGATCCTCCGACCATCACG	0.716												
SIGLEC8	27181	broad.mit.edu	37	19	51960986	51960986	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51960986G>T	uc002pwt.2	-	2	529	c.462C>A	c.(460-462)ACC>ACA	p.T154T	SIGLEC8_uc010yda.1_Intron|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	154	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGGCCTATGGGTCAGGGCTG	0.617												
SIGLEC5	8778	broad.mit.edu	37	19	52130901	52130901	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:52130901G>A	uc002pxe.2	-	6	1235	c.1096C>T	c.(1096-1098)CGG>TGG	p.R366W		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	366	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCCTCAAGCCGCCAGCACAGG	0.667												
ZNF766	90321	broad.mit.edu	37	19	52794336	52794336	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:52794336G>A	uc002pyr.1	+	4	1335	c.1292G>A	c.(1291-1293)AGA>AAA	p.R431K	ZNF766_uc002pys.1_3'UTR|ZNF766_uc002pyt.1_Missense_Mutation_p.R446K	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	zinc finger protein 766	431	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		AATCATCAGAGAATCCACACT	0.418												
CACNG7	59284	broad.mit.edu	37	19	54444820	54444820	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54444820G>A	uc002qcr.1	+	4	536	c.521G>A	c.(520-522)CGC>CAC	p.R174H	CACNG7_uc010era.1_Missense_Mutation_p.R174H	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	174					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TTTCATTATCGCTACGGGTGG	0.527												
CACNG7	59284	broad.mit.edu	37	19	54444845	54444845	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54444845C>A	uc002qcr.1	+	4	561	c.546C>A	c.(544-546)GCC>GCA	p.A182A	CACNG7_uc010era.1_Silent_p.A182A	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	182	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TTGCCTTCGCCGCTTCCTCCT	0.488												
CACNG7	59284	broad.mit.edu	37	19	54445522	54445522	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54445522T>C	uc002qcr.1	+	5	818	c.803T>C	c.(802-804)CTG>CCG	p.L268P		NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	268				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CCGGACCACCTGCACATCTCC	0.687												
TFPT	29844	broad.mit.edu	37	19	54611662	54611662	+	Missense_Mutation	SNP	G	G	A	rs148303725	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54611662G>A	uc010yej.1	-	4	800	c.394C>T	c.(394-396)CGG>TGG	p.R132W		NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner	132					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding				0	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TGGCTGGCCCGGTAGTCATCC	0.602			T	TCF3	pre-B ALL							
TMC4	147798	broad.mit.edu	37	19	54664875	54664875	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54664875G>A	uc010erf.2	-	12	1959	c.1827C>T	c.(1825-1827)AGC>AGT	p.S609S	LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Silent_p.S323S|TMC4_uc002qdo.2_Silent_p.S603S	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4 isoform 1	609	Helical; (Potential).					integral to membrane				pancreas(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACAGGAAGATGCTGTAAAGCA	0.607												
LILRB2	10288	broad.mit.edu	37	19	54782342	54782342	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54782342G>A	uc002qfb.2	-	7	1296	c.1030C>T	c.(1030-1032)CTG>TTG	p.L344L	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.L344L|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.L344L|LILRB2_uc010yet.1_Silent_p.L228L|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	344	Extracellular (Potential).|Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTGACACAGCAGGGTCACG	0.562												
LENG8	114823	broad.mit.edu	37	19	54966171	54966171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54966171C>T	uc002qfv.1	+	6	754	c.610C>T	c.(610-612)CGA>TGA	p.R204*	LENG8_uc002qfw.2_Nonsense_Mutation_p.R241*			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	204							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CATCCAGAAGCGACCCTTTGC	0.602												
LILRA1	11024	broad.mit.edu	37	19	55107196	55107196	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55107196T>C	uc002qgh.1	+	6	936	c.754T>C	c.(754-756)TAC>CAC	p.Y252H	LILRA2_uc010yfg.1_Missense_Mutation_p.Y250H|LILRA1_uc010yfh.1_Missense_Mutation_p.Y252H	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	252	Extracellular (Potential).|Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		TGATGTCAGCTACGACAGATT	0.572												
LILRB1	10859	broad.mit.edu	37	19	55144181	55144181	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55144181C>A	uc002qgj.2	+	7	1268	c.928C>A	c.(928-930)CCC>ACC	p.P310T	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.P310T|LILRB1_uc002qgk.2_Missense_Mutation_p.P310T|LILRB1_uc002qgm.2_Missense_Mutation_p.P310T|LILRB1_uc010erq.2_Missense_Mutation_p.P310T|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	310	Ig-like C2-type 3.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		GTGGTCGGCCCCCAGCGACCC	0.677										HNSCC(37;0.09)		
KIR2DS4	3809	broad.mit.edu	37	19	55351096	55351096	+	Silent	SNP	C	C	T	rs140185602		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55351096C>T	uc002qhm.1	+	5	652	c.606C>T	c.(604-606)TTC>TTT	p.F202F	KIR2DS4_uc010yfj.1_Missense_Mutation_p.S188F|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.S195F|KIR2DS4_uc002qhn.1_Intron	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	202	Extracellular (Potential).|Ig-like C2-type 2.					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		TCGGCTCTTTCCGTGACGCTC	0.567												
RDH13	112724	broad.mit.edu	37	19	55559833	55559833	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55559833G>T	uc002qio.3	-	5	707	c.522C>A	c.(520-522)TCC>TCA	p.S174S	RDH13_uc002qip.2_Silent_p.S103S|RDH13_uc010esr.1_RNA	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	174		Substrate (By similarity).					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)	CATGGGCCAGGGACGAGAGGT	0.522												
PTPRH	5794	broad.mit.edu	37	19	55718172	55718172	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55718172T>C	uc002qjq.2	-	3	310	c.237A>G	c.(235-237)ACA>ACG	p.T79T	PTPRH_uc010esv.2_Silent_p.T79T|PTPRH_uc002qjs.2_Silent_p.T86T	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	79	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGGTGGCTGTTGTGTTTCGAG	0.557												
TMEM86B	255043	broad.mit.edu	37	19	55738637	55738637	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55738637G>A	uc002qju.2	-	3	1116	c.593C>T	c.(592-594)GCC>GTC	p.A198V	TMEM86B_uc002qjt.2_Missense_Mutation_p.A197V	NM_173804	NP_776165	Q8N661	TM86B_HUMAN	transmembrane protein 86B	198	Helical; (Potential).				ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		CACCAGGTGGGCATGGGGCAG	0.667												
ZNF628	89887	broad.mit.edu	37	19	55993937	55993937	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55993937C>T	uc002qld.2	+	3	1930	c.1365C>T	c.(1363-1365)TGC>TGT	p.C455C	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	455	C2H2-type 10.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GTGCCGAGTGCGGCAAGTCCT	0.726												
ZNF628	89887	broad.mit.edu	37	19	55995122	55995122	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:55995122C>A	uc002qld.2	+	3	3115	c.2550C>A	c.(2548-2550)GTC>GTA	p.V850V	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	850	4.|4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TAACCACGGTCCAGCTCCAGC	0.657												
ZNF579	163033	broad.mit.edu	37	19	56090214	56090214	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:56090214C>T	uc002qlh.2	-	2	845	c.792G>A	c.(790-792)CCG>CCA	p.P264P		NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		TGGGGCGTGGCGGGGGCCCCC	0.711												
ZNF581	51545	broad.mit.edu	37	19	56155974	56155974	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:56155974G>A	uc002qln.2	+	2	753	c.37G>A	c.(37-39)GCA>ACA	p.A13T	ZNF581_uc002qlq.2_Missense_Mutation_p.A13T|CCDC106_uc002qlr.2_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	zinc finger protein 581	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TCAGCCTCTGGCATTTTCCTC	0.612												
NLRP8	126205	broad.mit.edu	37	19	56466553	56466553	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:56466553G>C	uc002qmh.2	+	3	1200	c.1129G>C	c.(1129-1131)GAC>CAC	p.D377H	NLRP8_uc010etg.2_Missense_Mutation_p.D377H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	377	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGAGGAGGGAGACCAAGTCTT	0.478												
ZNF835	90485	broad.mit.edu	37	19	57175886	57175886	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:57175886G>A	uc010ygo.1	-	2	747	c.747C>T	c.(745-747)TGC>TGT	p.C249C	ZNF835_uc010ygn.1_Silent_p.C227C	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						ACGCCTTGGCGCACTGGGCGC	0.706												
ZNF549	256051	broad.mit.edu	37	19	58049967	58049967	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:58049967A>G	uc002qpb.1	+	4	1844	c.1595A>G	c.(1594-1596)AAT>AGT	p.N532S	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.N519S	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	532	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGAGTGCAATGAATGTGGA	0.433												
ZNF324B	388569	broad.mit.edu	37	19	58966986	58966986	+	Silent	SNP	C	C	T	rs138131580		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:58966986C>T	uc002qsv.1	+	4	782	c.675C>T	c.(673-675)GGC>GGT	p.G225G	ZNF324B_uc002qsu.1_Silent_p.G215G|ZNF324B_uc010euq.1_Silent_p.G225G	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAGAATGGGCGCAGCTTGGC	0.647												
TRIM28	10155	broad.mit.edu	37	19	59060528	59060528	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:59060528C>A	uc002qtg.1	+	12	1872	c.1583C>A	c.(1582-1584)GCT>GAT	p.A528D	TRIM28_uc010eut.1_Missense_Mutation_p.A446D|TRIM28_uc002qth.1_Missense_Mutation_p.A143D	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	tripartite motif-containing 28 protein	528	Poly-Ala.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCGCTGCCGCTGCAGCTACC	0.607												
ADAM17	6868	broad.mit.edu	37	2	9630330	9630330	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:9630330A>G	uc002qzu.2	-	19	2634	c.2451T>C	c.(2449-2451)GTT>GTC	p.V817V	IAH1_uc010yiz.1_Intron|ADAM17_uc010ewy.2_Silent_p.V800V|ADAM17_uc010ewz.2_Silent_p.V160V	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	817	Cytoplasmic (Potential).				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTTTGCTGTCAACACGATTCT	0.423												
GRHL1	29841	broad.mit.edu	37	2	10095050	10095050	+	Silent	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:10095050G>C	uc002raa.2	+	2	198	c.27G>C	c.(25-27)CGG>CGC	p.R9R	GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_5'UTR|GRHL1_uc010yjb.1_5'UTR|uc002rac.2_RNA	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1	9	Transcription activation.				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			pancreas(1)|skin(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GAAGCAAACGGCCAGTGTTGG	0.418												
KCNF1	3754	broad.mit.edu	37	2	11052924	11052924	+	Silent	SNP	C	C	T	rs151111224	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:11052924C>T	uc002rax.2	+	1	862	c.372C>T	c.(370-372)GAC>GAT	p.D124D		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	124	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)		AGTTCCTGGACGACTGTTGCA	0.602												
LPIN1	23175	broad.mit.edu	37	2	11905731	11905731	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:11905731C>T	uc010yjn.1	+	3	338	c.64C>T	c.(64-66)CTG>TTG	p.L22L	LPIN1_uc010yjm.1_Silent_p.L71L|LPIN1_uc002rbt.2_Silent_p.L22L|LPIN1_uc002rbs.2_Silent_p.L22L|LPIN1_uc010exi.1_RNA|hsa-mir-548s|MI0014141_5'Flank	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	22	N-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)		CTACAAGGGGCTGAATCCCGC	0.522												
DDX1	1653	broad.mit.edu	37	2	15746096	15746096	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:15746096T>C	uc002rce.2	+	11	936	c.648T>C	c.(646-648)TTT>TTC	p.F216F	DDX1_uc010yjq.1_Silent_p.F124F	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	216	B30.2/SPRY.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.|Helicase ATP-binding.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GTCTGGCATTTGAAATACCAC	0.259												
C2orf43	60526	broad.mit.edu	37	2	20990056	20990056	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:20990056G>A	uc002rec.2	-	3	290	c.257C>T	c.(256-258)GCG>GTG	p.A86V	C2orf43_uc002rea.1_Missense_Mutation_p.A86V|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_Intron|C2orf43_uc010ykb.1_5'UTR|C2orf43_uc010ykc.1_Intron|C2orf43_uc010ykd.1_Missense_Mutation_p.A86V|C2orf43_uc010yke.1_Intron|C2orf43_uc010ykf.1_Intron	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	hypothetical protein LOC60526	86											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGCCAACGCATGCCCAGC	0.423												
APOB	338	broad.mit.edu	37	2	21228843	21228843	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:21228843A>G	uc002red.2	-	26	11025	c.10897T>C	c.(10897-10899)TGG>CGG	p.W3633R		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3633					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)	TCATTTTTCCATCTGATCTTC	0.483												
POMC	5443	broad.mit.edu	37	2	25384009	25384009	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:25384009G>A	uc002rfy.1	-	4	1008	c.745C>T	c.(745-747)CCC>TCC	p.P249S	POMC_uc002rfz.1_Missense_Mutation_p.P249S|POMC_uc002rga.1_Missense_Mutation_p.P249S	NM_001035256	NP_001030333	P01189	COLI_HUMAN	proopiomelanocortin preproprotein	249					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GTCACCAGGGGCGTCTGGCTC	0.642												
GPR113	165082	broad.mit.edu	37	2	26535824	26535824	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:26535824C>T	uc002rhe.3	-	10	1640	c.1640G>A	c.(1639-1641)CGC>CAC	p.R547H	GPR113_uc010yky.1_Missense_Mutation_p.R478H|GPR113_uc002rhb.1_Missense_Mutation_p.R150H|GPR113_uc010eyk.1_Missense_Mutation_p.R348H|GPR113_uc002rhc.1_Missense_Mutation_p.R150H|GPR113_uc002rhd.1_RNA	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	G-protein coupled receptor 113 isoform 1	547	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGGCTCTGCGGTCAAGCTG	0.602												
EMILIN1	11117	broad.mit.edu	37	2	27306679	27306679	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27306679T>C	uc002rii.3	+	4	2668	c.2240T>C	c.(2239-2241)CTG>CCG	p.L747P	EMILIN1_uc002rik.3_5'UTR|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rin.2_5'Flank|KHK_uc002rio.2_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	747	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCAGGGCCTGCGCGAGGGC	0.662												
C2orf28	51374	broad.mit.edu	37	2	27436156	27436156	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27436156A>G	uc002rjf.2	+	2	549	c.376A>G	c.(376-378)ACC>GCC	p.T126A	SLC5A6_uc002rjd.2_5'Flank|SLC5A6_uc010eyv.1_5'Flank|SLC5A6_uc002rje.1_5'Flank|C2orf28_uc002rjg.2_Missense_Mutation_p.T13A	NM_080592	NP_542159	Q6UW56	APR3_HUMAN	apoptosis related protein 3 isoform b	71	Extracellular (Potential).					integral to membrane|plasma membrane				skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGAAGGGCACCATCTTGGG	0.463												
C2orf28	51374	broad.mit.edu	37	2	27438343	27438343	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27438343G>T	uc002rjf.2	+	4	633	c.460G>T	c.(460-462)GAC>TAC	p.D154Y	C2orf28_uc002rjg.2_Missense_Mutation_p.D41Y|C2orf28_uc002rjh.2_5'Flank|CAD_uc002rji.2_5'Flank|CAD_uc010eyw.2_5'Flank	NM_080592	NP_542159	Q6UW56	APR3_HUMAN	apoptosis related protein 3 isoform b	99	Extracellular (Potential).					integral to membrane|plasma membrane				skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTTGCAGAGACCTGCAAGC	0.458												
CAD	790	broad.mit.edu	37	2	27463982	27463982	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27463982G>A	uc002rji.2	+	37	5857	c.5695G>A	c.(5695-5697)GCA>ACA	p.A1899T	CAD_uc010eyw.2_Missense_Mutation_p.A1836T	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1899	Linker.				'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)	ACCGAGACAGGCATCTCCCCA	0.607												
GTF3C2	2976	broad.mit.edu	37	2	27560869	27560869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27560869G>A	uc002rjv.1	-	6	1237	c.874C>T	c.(874-876)CGA>TGA	p.R292*	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Nonsense_Mutation_p.R303*|GTF3C2_uc002rjw.1_Nonsense_Mutation_p.R292*|GTF3C2_uc010eyz.1_Nonsense_Mutation_p.R292*	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	292						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCATTCCTCGGCAGTGTGGT	0.473												
RBKS	64080	broad.mit.edu	37	2	28065937	28065937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:28065937C>A	uc002rlo.1	-	5	522	c.511G>T	c.(511-513)GGA>TGA	p.G171*	RBKS_uc010ezi.1_Nonsense_Mutation_p.G104*|RBKS_uc010ymg.1_Nonsense_Mutation_p.G171*	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	ribokinase	171					D-ribose metabolic process		ATP binding|ribokinase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)					TAATTACCTCCACTCCTGCGG	0.398												
PLB1	151056	broad.mit.edu	37	2	28843473	28843473	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:28843473A>G	uc002rmb.1	+	48	3390	c.3390A>G	c.(3388-3390)GGA>GGG	p.G1130G	PLB1_uc010ezj.1_Silent_p.G1119G|PLB1_uc002rme.1_Silent_p.G95G|PLB1_uc002rmf.1_RNA	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1130	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCAGCATTGGAGGGGATGGGA	0.567												
ALK	238	broad.mit.edu	37	2	29462640	29462640	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:29462640G>A	uc002rmy.2	-	13	3168	c.2261C>T	c.(2260-2262)TCC>TTC	p.S754F		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	754	Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CACGCCGTGGGACCGCATCAT	0.587			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
EHD3	30845	broad.mit.edu	37	2	31483400	31483400	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:31483400A>G	uc002rnu.2	+	4	1135	c.527A>G	c.(526-528)GAG>GGG	p.E176G	EHD3_uc010ymt.1_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	176					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					GCTGTCCTTGAGTGGTTTGCC	0.493												
SPAST	6683	broad.mit.edu	37	2	32379525	32379525	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:32379525A>G	uc002roc.2	+	17	2032	c.1811A>G	c.(1810-1812)TAC>TGC	p.Y604C	SPAST_uc002rod.2_Missense_Mutation_p.Y572C	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	spastin isoform 1	604	Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTAGAAGCGTACATACGTTGG	0.348												
FEZ2	9637	broad.mit.edu	37	2	36805950	36805950	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:36805950G>T	uc002rph.2	-	5	740	c.693C>A	c.(691-693)GCC>GCA	p.A231A	FEZ2_uc002rpe.2_Silent_p.A60A|FEZ2_uc002rpf.2_Silent_p.A60A|FEZ2_uc002rpg.2_Silent_p.A231A|FEZ2_uc002rpi.2_Silent_p.A86A|FEZ2_uc002rpj.2_Silent_p.A231A	NM_005102	NP_005093	Q9UHY8	FEZ2_HUMAN	zygin 2 isoform 1	231	Potential.				axon guidance|signal transduction		protein binding			ovary(1)	1		all_hematologic(82;0.21)				ACTCCTTAATGGCAGTCTCAA	0.393												
VIT	5212	broad.mit.edu	37	2	37041389	37041389	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:37041389C>T	uc002rpl.2	+	16	2188	c.1967C>T	c.(1966-1968)ACT>ATT	p.T656I	VIT_uc002rpm.2_Missense_Mutation_p.T634I|VIT_uc010ezv.2_Missense_Mutation_p.T612I|VIT_uc010ezw.2_Missense_Mutation_p.T613I	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	641	VWFA 2.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				GTCATTGCCACTCACCCCGCC	0.507												
HEATR5B	54497	broad.mit.edu	37	2	37234399	37234399	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:37234399T>C	uc002rpp.1	-	29	4667	c.4571A>G	c.(4570-4572)TAT>TGT	p.Y1524C	HEATR5B_uc010ezy.1_Missense_Mutation_p.Y108C	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1524							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				GGAATTCCGATAGTGAAGTCT	0.378												
ATL2	64225	broad.mit.edu	37	2	38526463	38526463	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:38526463C>T	uc002rqq.2	-	11	1165	c.1135G>A	c.(1135-1137)GCT>ACT	p.A379T	ATL2_uc010ynm.1_Missense_Mutation_p.A361T|ATL2_uc010ynn.1_Missense_Mutation_p.A361T|ATL2_uc010yno.1_Missense_Mutation_p.A208T|ATL2_uc002rqs.2_Missense_Mutation_p.A379T|ATL2_uc002rqr.2_Missense_Mutation_p.A208T	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	379	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3						TTAGCTTCAGCTGTTGCCTAA	0.308												
CDKL4	344387	broad.mit.edu	37	2	39417505	39417505	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:39417505T>G	uc002rrm.2	-	5	593	c.593A>C	c.(592-594)CAG>CCG	p.Q198P	CDKL4_uc010fal.1_Missense_Mutation_p.Q198P	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	198	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)				CCACAGTGGCTGGCCTGTCAG	0.438												
MSH6	2956	broad.mit.edu	37	2	48028049	48028049	+	Missense_Mutation	SNP	G	G	A	rs63751113		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:48028049G>A	uc002rwd.3	+	4	3079	c.2927G>A	c.(2926-2928)CGT>CAT	p.R976H	MSH6_uc002rwc.2_Missense_Mutation_p.R976H|MSH6_uc010fbj.2_Missense_Mutation_p.R674H|MSH6_uc010yoi.1_Missense_Mutation_p.R846H|MSH6_uc010yoj.1_Missense_Mutation_p.R674H	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	976			R -> H (in CRC; sporadic).		determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGTAGGAACCGTTACCAGCTG	0.443			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
FBXO11	80204	broad.mit.edu	37	2	48050315	48050315	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:48050315A>G	uc010fbl.2	-	12	1445	c.1331T>C	c.(1330-1332)GTA>GCA	p.V444A	FBXO11_uc002rwe.2_Missense_Mutation_p.V444A|FBXO11_uc002rwf.2_Missense_Mutation_p.V444A|FBXO11_uc002rwg.1_Missense_Mutation_p.V444A|FBXO11_uc010fbk.2_5'UTR	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	528	PbH1 6.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGTAATCCATACACCTGCAAA	0.333												
FOXN2	3344	broad.mit.edu	37	2	48602442	48602442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:48602442C>T	uc002rwh.1	+	7	1471	c.1156C>T	c.(1156-1158)CGA>TGA	p.R386*		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	386					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CAAAAAGATGCGAAAACAGAC	0.438												
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808775	48808775	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:48808775G>A	uc010yol.1	+	1	1050	c.1003G>A	c.(1003-1005)GTT>ATT	p.V335I	STON1_uc002rwo.3_Missense_Mutation_p.V335I|STON1_uc010fbm.2_Missense_Mutation_p.V335I|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.V335I|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.V335I	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	335					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAACCCAAGGTTGAGAACTT	0.368												
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808931	48808931	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:48808931C>A	uc010yol.1	+	1	1206	c.1159C>A	c.(1159-1161)CTT>ATT	p.L387I	STON1_uc002rwo.3_Missense_Mutation_p.L387I|STON1_uc010fbm.2_Missense_Mutation_p.L387I|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.L387I|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.L387I	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	387					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCATGACTTCCTTGACTTTCT	0.413												
NRXN1	9378	broad.mit.edu	37	2	50318472	50318472	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:50318472C>T	uc010fbp.2	-	3	1409	c.602G>A	c.(601-603)CGC>CAC	p.R201H	NRXN1_uc002rxb.3_Missense_Mutation_p.R908H|NRXN1_uc010fbq.2_Missense_Mutation_p.R1276H|NRXN1_uc002rxe.3_Missense_Mutation_p.R1236H	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	201	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCAGGGTAGCGCTCGATCAC	0.448												
C2orf63	130162	broad.mit.edu	37	2	55408858	55408858	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:55408858C>A	uc002ryi.2	-	10	1375	c.1029G>T	c.(1027-1029)AAG>AAT	p.K343N	C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Missense_Mutation_p.K221N	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	hypothetical protein LOC130162 isoform 1	343							binding			ovary(2)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			ATGGAAGAGGCTTTCCTCTAA	0.343												
SERTAD2	9792	broad.mit.edu	37	2	64863313	64863313	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:64863313T>C	uc002sde.1	-	2	990	c.693A>G	c.(691-693)ATA>ATG	p.I231M		NM_014755	NP_055570	Q14140	SRTD2_HUMAN	SERTA domain containing 2	231					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus					0						TGGACGTCGTTATTTCAAAAT	0.517												
CEP68	23177	broad.mit.edu	37	2	65300081	65300081	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:65300081A>G	uc002sdl.3	+	3	2065	c.1851A>G	c.(1849-1851)GAA>GAG	p.E617E	CEP68_uc002sdj.2_Silent_p.E617E|CEP68_uc010yqb.1_Silent_p.E617E|CEP68_uc002sdk.3_Intron|CEP68_uc010yqc.1_Silent_p.E617E|CEP68_uc010yqd.1_Silent_p.E617E	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	617					centrosome organization	centrosome				skin(1)	1						AAGGAGGAGAACAGGGAAAAG	0.512												
SPRED2	200734	broad.mit.edu	37	2	65659116	65659116	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:65659116G>T	uc002sdr.3	-	1	541	c.6C>A	c.(4-6)ACC>ACA	p.T2T	SPRED2_uc010fcx.1_RNA	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	2					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3						GTGTTTCTTCGGTCATTTTCT	0.647												
ATP6V1B1	525	broad.mit.edu	37	2	71187161	71187161	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:71187161G>A	uc002shj.2	+	6	625	c.538G>A	c.(538-540)GGC>AGC	p.G180S	ATP6V1B1_uc002shi.1_Missense_Mutation_p.G180S|ATP6V1B1_uc010fdv.2_Missense_Mutation_p.G180S|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.G138S	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	180					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						CATTGCCCGCGGCCAGAAGAT	0.622												
DYSF	8291	broad.mit.edu	37	2	71743310	71743310	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:71743310A>G	uc002sie.2	+	8	1169	c.793A>G	c.(793-795)ACT>GCT	p.T265A	DYSF_uc010feg.2_Missense_Mutation_p.T296A|DYSF_uc010feh.2_Missense_Mutation_p.T265A|DYSF_uc002sig.3_Missense_Mutation_p.T265A|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.T265A|DYSF_uc010fef.2_Missense_Mutation_p.T296A|DYSF_uc010fei.2_Missense_Mutation_p.T296A|DYSF_uc010fek.2_Missense_Mutation_p.T297A|DYSF_uc010fej.2_Missense_Mutation_p.T266A|DYSF_uc010fel.2_Missense_Mutation_p.T266A|DYSF_uc010feo.2_Missense_Mutation_p.T297A|DYSF_uc010fem.2_Missense_Mutation_p.T266A|DYSF_uc010fen.2_Missense_Mutation_p.T297A|DYSF_uc002sif.2_Missense_Mutation_p.T266A	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	265	Cytoplasmic (Potential).|C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GAACCAACAGACTCTTTTCTT	0.522												
RAB11FIP5	26056	broad.mit.edu	37	2	73316315	73316315	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:73316315C>A	uc002siu.3	-	2	801	c.560G>T	c.(559-561)AGG>ATG	p.R187M	RAB11FIP5_uc002sit.3_Missense_Mutation_p.R109M	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	187					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding				0						GAAGGGAGACCTTGGCTTGTC	0.522												
EGR4	1961	broad.mit.edu	37	2	73519471	73519471	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:73519471G>A	uc010yrj.1	-	2	959	c.884C>T	c.(883-885)TCG>TTG	p.S295L	EGR4_uc010yrk.1_Missense_Mutation_p.S294L	NM_001965	NP_001956	Q05215	EGR4_HUMAN	early growth response 4	191						intracellular	nucleic acid binding|zinc ion binding				0						CAGCGCTGGCGAGGCGGGAGG	0.706												
ALMS1	7840	broad.mit.edu	37	2	73800417	73800417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:73800417C>T	uc002sje.1	+	18	11527	c.11416C>T	c.(11416-11418)CGA>TGA	p.R3806*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.R3762*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.R3192*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.R3192*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3804					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GTCACCCAGACGAATTAAATT	0.468												
TET3	200424	broad.mit.edu	37	2	74327752	74327752	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:74327752C>T	uc002skb.3	+	9	3432	c.3432C>T	c.(3430-3432)TAC>TAT	p.Y1144Y		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1144							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						ACTCCAAGTACGCTCTCCCGT	0.592												
DCTN1	1639	broad.mit.edu	37	2	74593706	74593706	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:74593706C>A	uc002skx.2	-	22	2819	c.2508G>T	c.(2506-2508)TGG>TGT	p.W836C	DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.W702C|DCTN1_uc002sku.2_Missense_Mutation_p.W702C|DCTN1_uc002skw.1_Missense_Mutation_p.W812C|DCTN1_uc010ffd.2_Missense_Mutation_p.W816C|DCTN1_uc002sky.2_Missense_Mutation_p.W799C	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	836					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						CAGCCACGACCCACGTCAAGT	0.592												
CCDC142	84865	broad.mit.edu	37	2	74708370	74708370	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:74708370C>T	uc002slr.2	-	3	1631	c.1238G>A	c.(1237-1239)CGG>CAG	p.R413Q	TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.R413Q|CCDC142_uc002slp.2_Missense_Mutation_p.R413Q	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	413										central_nervous_system(1)	1						GCAGAAAATCCGTCGTAACCT	0.557												
CCDC142	84865	broad.mit.edu	37	2	74709916	74709916	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:74709916G>A	uc002slr.2	-	1	442	c.49C>T	c.(49-51)CCC>TCC	p.P17S	TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.P17S|CCDC142_uc002slp.2_Missense_Mutation_p.P17S	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	17										central_nervous_system(1)	1						CTCAGCGGGGGCACGATAACG	0.672												
HTRA2	27429	broad.mit.edu	37	2	74757242	74757242	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:74757242G>A	uc002smi.1	+	1	711	c.109G>A	c.(109-111)GCC>ACC	p.A37T	AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.A37T|HTRA2_uc002smk.1_Missense_Mutation_p.A37T|HTRA2_uc002sml.1_Missense_Mutation_p.A37T|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	HtrA serine peptidase 2 isoform 1 preproprotein	37					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			ovary(1)	1						TGACCTCCGGGCCCTGCTGAC	0.697												
LRRTM1	347730	broad.mit.edu	37	2	80529700	80529700	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:80529700G>A	uc002sok.1	-	2	1515	c.1245C>T	c.(1243-1245)GGC>GGT	p.G415G	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	415	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CGTGCTCGCCGCCTGGAAGAG	0.677										HNSCC(69;0.2)		
LRRTM1	347730	broad.mit.edu	37	2	80529904	80529904	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:80529904G>A	uc002sok.1	-	2	1311	c.1041C>T	c.(1039-1041)TAC>TAT	p.Y347Y	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	347	LRRCT.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CGCCCTGTGCGTACTCCGGGC	0.672										HNSCC(69;0.2)		
C2orf89	129293	broad.mit.edu	37	2	85051310	85051310	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:85051310G>T	uc010ysl.1	-	6	1190	c.1101C>A	c.(1099-1101)ACC>ACA	p.T367T	C2orf89_uc002sou.3_Silent_p.T318T	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	hypothetical protein LOC129293 precursor	367	Extracellular (Potential).					integral to membrane				ovary(1)	1						GCCGTGTGGAGGTCTTTTTAC	0.567												
PTCD3	55037	broad.mit.edu	37	2	86352131	86352131	+	Missense_Mutation	SNP	G	G	A	rs139051130		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:86352131G>A	uc002sqw.2	+	10	796	c.730G>A	c.(730-732)GCT>ACT	p.A244T	PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	244						mitochondrion	protein binding			ovary(1)	1						AAAAAACAACGCTGAGAGAAT	0.289												
KDM3A	55818	broad.mit.edu	37	2	86697506	86697506	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:86697506T>G	uc002sri.3	+	11	2026	c.1699T>G	c.(1699-1701)TTT>GTT	p.F567V	KDM3A_uc010ytj.1_Missense_Mutation_p.F567V|KDM3A_uc010ytk.1_Missense_Mutation_p.F515V	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	567					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						CTCACCTGTGTTTTGCCGCTT	0.458												
KDM3A	55818	broad.mit.edu	37	2	86709698	86709698	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:86709698A>G	uc002sri.3	+	18	3130	c.2803A>G	c.(2803-2805)AGC>GGC	p.S935G	KDM3A_uc010ytj.1_Missense_Mutation_p.S935G|KDM3A_uc010ytk.1_Missense_Mutation_p.S883G	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	935					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						CATcaagcccagcattctggg	0.269												
VPS24	51652	broad.mit.edu	37	2	86737479	86737479	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:86737479A>G	uc002srj.2	-	4	537	c.408_splice	c.e4+1	p.K136_splice	VPS24_uc002srk.2_Splice_Site_p.K70_splice|VPS24_uc002srl.2_Splice_Site_p.K96_splice|VPS24_uc010ytl.1_Splice_Site_p.K165_splice	NM_016079	NP_057163	Q9Y3E7	CHMP3_HUMAN	vacuolar protein sorting 24 isoform 1						cell cycle|cell division|cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)	1						GCCCCAAGTCACCTTCATCAT	0.502												
ADRA2B	151	broad.mit.edu	37	2	96781640	96781640	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:96781640C>T	uc002svi.2	-	1	249	c.249G>A	c.(247-249)ACG>ACA	p.T83T		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	83	Extracellular (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CCTCGCACCACGTGCGCCGGA	0.667												
SNRNP200	23020	broad.mit.edu	37	2	96949574	96949574	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:96949574C>T	uc002svu.2	-	32	4647	c.4561G>A	c.(4561-4563)GTC>ATC	p.V1521I	SNRNP200_uc002svt.2_Missense_Mutation_p.V131I|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Missense_Mutation_p.V48I	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1521						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						TCCAAGGGGACGGGACGCACA	0.582												
SEMA4C	54910	broad.mit.edu	37	2	97526493	97526493	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:97526493C>T	uc002sxh.3	-	15	2532	c.2372G>A	c.(2371-2373)CGC>CAC	p.R791H	ANKRD39_uc002sxd.3_5'Flank|SEMA4C_uc002sxf.3_Missense_Mutation_p.R291H|SEMA4C_uc002sxe.2_Missense_Mutation_p.R332H|SEMA4C_uc002sxg.3_Missense_Mutation_p.R844H	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	semaphorin 4C precursor	791	Cytoplasmic (Potential).				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			skin(2)	2						TAGTTGTAAGCGCACGTAACC	0.652												
INPP4A	3631	broad.mit.edu	37	2	99204009	99204009	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:99204009C>T	uc002syy.2	+	26	3265	c.2872C>T	c.(2872-2874)CTG>TTG	p.L958L	INPP4A_uc010yvk.1_Silent_p.L919L|INPP4A_uc002syx.2_Silent_p.L953L|INPP4A_uc010fik.2_Silent_p.L287L	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	958					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						TTCCCTGCAGCTGAAGGCTTT	0.418												
MGAT4A	11320	broad.mit.edu	37	2	99256419	99256419	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:99256419G>T	uc002sze.2	-	12	1488	c.1174C>A	c.(1174-1176)CCA>ACA	p.P392T	C2orf64_uc002sza.2_Intron|MGAT4A_uc010yvm.1_Missense_Mutation_p.P264T|MGAT4A_uc010fil.2_Missense_Mutation_p.P146T	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	alpha-1,3-mannosyl-glycoprotein	392	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1						TCCGCAGGTGGGTTTACATGG	0.388												
AFF3	3899	broad.mit.edu	37	2	100210285	100210285	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:100210285G>A	uc002tag.2	-	14	2074	c.1838C>T	c.(1837-1839)GCG>GTG	p.A613V	AFF3_uc002taf.2_Missense_Mutation_p.A638V|AFF3_uc010fiq.1_Missense_Mutation_p.A613V|AFF3_uc010yvr.1_Missense_Mutation_p.A766V|AFF3_uc002tah.1_Missense_Mutation_p.A638V	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	613					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						CGTCCCCAGCGCGTCCGCGGC	0.736												
PDCL3	79031	broad.mit.edu	37	2	101185442	101185442	+	Silent	SNP	C	C	T	rs145022980		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:101185442C>T	uc002tao.2	+	3	295	c.183C>T	c.(181-183)GAC>GAT	p.D61D		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	61					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding				0						ATCATGAAGACGAGTTTAATG	0.328												
MAP4K4	9448	broad.mit.edu	37	2	102486131	102486131	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:102486131G>A	uc002tbg.2	+	20	2323	c.2268G>A	c.(2266-2268)CGG>CGA	p.R756R	MAP4K4_uc002tbc.2_Silent_p.R837R|MAP4K4_uc002tbd.2_Silent_p.R729R|MAP4K4_uc002tbe.2_Silent_p.R675R|MAP4K4_uc002tbf.2_Silent_p.R726R|MAP4K4_uc010yvy.1_Silent_p.R752R|MAP4K4_uc002tbh.2_Silent_p.R674R|MAP4K4_uc002tbi.2_Silent_p.R559R|MAP4K4_uc010yvz.1_Silent_p.R732R|MAP4K4_uc002tbk.2_Silent_p.R211R|MAP4K4_uc002tbl.2_5'UTR	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	756					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						AAGATGTACGGCCACCTCACA	0.557												
IL1R2	7850	broad.mit.edu	37	2	102641109	102641109	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:102641109G>A	uc002tbm.2	+	7	1095	c.866G>A	c.(865-867)CGC>CAC	p.R289H	IL1R2_uc002tbn.2_Missense_Mutation_p.R289H|IL1R2_uc002tbo.1_Missense_Mutation_p.R289H	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	289	Extracellular (Potential).|Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	CCGGGAGGCCGCGTGACCGAG	0.577												
FHL2	2274	broad.mit.edu	37	2	105990123	105990123	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:105990123A>G	uc002tcu.2	-	3	561	c.224T>C	c.(223-225)CTG>CCG	p.L75P	FHL2_uc002tdc.2_Intron|FHL2_uc002tdd.2_Missense_Mutation_p.L75P|FHL2_uc002tcv.2_Missense_Mutation_p.L75P|FHL2_uc002tcw.2_Missense_Mutation_p.L75P|FHL2_uc002tcx.2_Missense_Mutation_p.L75P|FHL2_uc010fje.2_Intron|FHL2_uc002tcy.2_Missense_Mutation_p.L75P|FHL2_uc002tcz.2_Missense_Mutation_p.L185P|FHL2_uc002tda.2_Intron|FHL2_uc002tdb.2_Missense_Mutation_p.L191P|FHL2_uc002tde.1_Missense_Mutation_p.L168P	NM_201557	NP_963851	Q14192	FHL2_HUMAN	four and a half LIM domains 2	75	LIM zinc-binding 1.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	p.L75L(1)		ovary(1)	1						CTTGTCCACCAGTGAGTTTCT	0.542												
NCK2	8440	broad.mit.edu	37	2	106471695	106471695	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:106471695A>C	uc002tdg.2	+	3	618	c.176A>C	c.(175-177)AAG>ACG	p.K59T	NCK2_uc002tdh.2_Missense_Mutation_p.K59T|NCK2_uc002tdi.2_Missense_Mutation_p.K59T	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	59	SH3 1.				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						GTGGAGCGGAAGAACAGCCTG	0.577												
NCK2	8440	broad.mit.edu	37	2	106497875	106497875	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:106497875C>T	uc002tdg.2	+	4	760	c.318C>T	c.(316-318)GCC>GCT	p.A106A	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.A106A	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	106					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						GCAGCGGCGCCGACCGCATCT	0.682												
SLC5A7	60482	broad.mit.edu	37	2	108604753	108604753	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:108604753G>T	uc002tdv.2	+	2	418	c.142G>T	c.(142-144)GAT>TAT	p.D48Y	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.D48Y|SLC5A7_uc010ywn.1_Intron	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	48	Extracellular (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	TGGTGGCCGAGATATTGGTTT	0.527												
CCDC138	165055	broad.mit.edu	37	2	109411082	109411082	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:109411082T>G	uc002ten.1	+	5	541	c.481T>G	c.(481-483)TGT>GGT	p.C161G	CCDC138_uc002teo.1_Missense_Mutation_p.C161G|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	161											0						ACCTGTCAGCTGTCCAAAATC	0.418												
ANKRD57	65124	broad.mit.edu	37	2	110373120	110373120	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:110373120G>A	uc002tfb.2	+	1	1210	c.1054G>A	c.(1054-1056)GGC>AGC	p.G352S	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	ankyrin repeat domain 57	352	ANK 2.										0						AGCCATGCACGGCCACGTGGA	0.622												
TMEM87B	84910	broad.mit.edu	37	2	112865400	112865400	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:112865400C>A	uc002thm.2	+	17	1929	c.1560C>A	c.(1558-1560)CCC>CCA	p.P520P		NM_032824	NP_116213	Q96K49	TM87B_HUMAN	transmembrane protein 87B precursor	520						integral to membrane					0						AAAATATTCCCTCTTCATTCA	0.323												
PSD4	23550	broad.mit.edu	37	2	113951497	113951497	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:113951497G>A	uc002tjc.2	+	10	2336	c.2153G>A	c.(2152-2154)GGC>GAC	p.G718D	PSD4_uc002tjd.2_Missense_Mutation_p.G339D|PSD4_uc002tje.2_Missense_Mutation_p.G689D|PSD4_uc002tjf.2_Missense_Mutation_p.G339D	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	718	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						CTGAGGGATGGCGGGAACTTC	0.537												
MARCO	8685	broad.mit.edu	37	2	119726815	119726815	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:119726815C>T	uc002tln.1	+	2	309	c.177C>T	c.(175-177)GGC>GGT	p.G59G	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	59	Helical; Signal-anchor for type II membrane protein; (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						TCACCGCTGGCGCTGGGCTGC	0.597												
STEAP3	55240	broad.mit.edu	37	2	120005392	120005392	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:120005392G>A	uc002tlp.2	+	4	787	c.630G>A	c.(628-630)CCG>CCA	p.P210P	STEAP3_uc002tlq.2_Silent_p.P220P|STEAP3_uc002tlr.2_Silent_p.P210P|STEAP3_uc010fle.2_Silent_p.P210P	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	210	Helical; (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						GCCTCCTCCCGGCCTGGAAGG	0.657												
EPB41L5	57669	broad.mit.edu	37	2	120849180	120849180	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:120849180A>G	uc002tmg.2	+	13	1219	c.1093A>G	c.(1093-1095)ACA>GCA	p.T365A	EPB41L5_uc010flk.2_Missense_Mutation_p.T365A|EPB41L5_uc010fll.2_Missense_Mutation_p.T365A|EPB41L5_uc002tmh.3_Missense_Mutation_p.T365A|EPB41L5_uc010flm.2_Missense_Mutation_p.T169A	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	365						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1						AAGAAGATCAACATCCTTTGA	0.368												
GLI2	2736	broad.mit.edu	37	2	121684974	121684974	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:121684974A>G	uc010flp.2	+	2	216	c.186A>G	c.(184-186)CTA>CTG	p.L62L	GLI2_uc010yyu.1_Silent_p.L62L|GLI2_uc002tmp.1_Silent_p.L62L|GLI2_uc010fln.1_RNA|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Silent_p.L62L|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Silent_p.L62L	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	62					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				ATGCGCCCCTACCGATTGACA	0.552												
GLI2	2736	broad.mit.edu	37	2	121742161	121742161	+	Missense_Mutation	SNP	C	C	T	rs113407742		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:121742161C>T	uc010flp.2	+	11	1828	c.1798C>T	c.(1798-1800)CGC>TGC	p.R600C	GLI2_uc002tmq.1_Missense_Mutation_p.R272C|GLI2_uc002tmr.1_Missense_Mutation_p.R255C|GLI2_uc002tmt.3_Missense_Mutation_p.R272C|GLI2_uc002tmu.3_Missense_Mutation_p.R255C|GLI2_uc002tmw.1_Missense_Mutation_p.R583C	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	600					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				CAAGAAGCAGCGCAATGACGT	0.627												
CNTNAP5	129684	broad.mit.edu	37	2	125660579	125660579	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:125660579T>C	uc002tno.2	+	22	3918	c.3554T>C	c.(3553-3555)GTC>GCC	p.V1185A	CNTNAP5_uc010flu.2_Missense_Mutation_p.V1186A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1185	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATGCCACTGTCGCGCCTGTG	0.537												
PROC	5624	broad.mit.edu	37	2	128186274	128186274	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:128186274A>G	uc002tok.2	+	9	1211	c.1138A>G	c.(1138-1140)ATG>GTG	p.M380V	PROC_uc002tol.2_Missense_Mutation_p.M401V|PROC_uc010yzi.1_Missense_Mutation_p.M436V|PROC_uc010yzj.1_Missense_Mutation_p.M275V|PROC_uc010yzk.1_Missense_Mutation_p.M435V|PROC_uc002tom.2_Missense_Mutation_p.M414V	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	380	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CATGAGCAACATGGTGTCTGA	0.617												
GPR17	2840	broad.mit.edu	37	2	128409243	128409243	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:128409243C>T	uc010yzn.1	+	4	1629	c.1018C>T	c.(1018-1020)CTC>TTC	p.L340F	LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.L340F|GPR17_uc010yzo.1_Missense_Mutation_p.L312F|GPR17_uc002tpd.2_Missense_Mutation_p.L312F	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	340	Cytoplasmic (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		GTGCAACTTGCTCTGTGGCAA	0.612												
WDR33	55339	broad.mit.edu	37	2	128477600	128477600	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:128477600G>A	uc002tpg.1	-	16	2182	c.1999C>T	c.(1999-2001)CGG>TGG	p.R667W		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	667	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCTGAGGCCGTGGCAACCCC	0.637												
FAM128A	653784	broad.mit.edu	37	2	132241709	132241709	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:132241709C>T	uc002tsw.3	-	3	517	c.402G>A	c.(400-402)ATG>ATA	p.M134I	FAM128A_uc002tsv.3_RNA	NM_001085365	NP_001078834	Q6P582	MZT2A_HUMAN	hypothetical protein LOC653784	134						centrosome|gamma-tubulin ring complex|spindle					0				BRCA - Breast invasive adenocarcinoma(221;0.13)		GCTGGCGTGGCATCCTCTGGC	0.647												
LYPD1	116372	broad.mit.edu	37	2	133427493	133427493	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:133427493C>A	uc002ttn.2	-	1	989	c.13G>T	c.(13-15)GGC>TGC	p.G5C	LYPD1_uc002ttm.3_Splice_Site_p.S21_splice|LYPD1_uc002tto.2_Intron	NM_144586	NP_653187	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1 isoform a	5						anchored to membrane|plasma membrane					0						GCCGCGATGCCTAGGACCCAC	0.652												
ZRANB3	84083	broad.mit.edu	37	2	135988450	135988450	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:135988450T>C	uc002tum.2	-	13	1704	c.1587A>G	c.(1585-1587)CAA>CAG	p.Q529Q	ZRANB3_uc002tuk.2_Silent_p.Q72Q|ZRANB3_uc002tul.2_Silent_p.Q529Q	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	529						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTTTTTTAGGTTGTGGTACAA	0.363												
LCT	3938	broad.mit.edu	37	2	136566784	136566784	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:136566784A>G	uc002tuu.1	-	8	3144	c.3133T>C	c.(3133-3135)TAC>CAC	p.Y1045H		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1045	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAGTCTGCGTAGCTGTCAAAC	0.498												
THSD7B	80731	broad.mit.edu	37	2	137928468	137928468	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:137928468G>T	uc002tva.1	+	6	1590	c.1590G>T	c.(1588-1590)CTG>CTT	p.L530L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.L420L	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATGTGGCCTGGGACATCGTA	0.502												
LRP1B	53353	broad.mit.edu	37	2	141660497	141660497	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:141660497G>A	uc002tvj.1	-	23	4730	c.3758C>T	c.(3757-3759)ACA>ATA	p.T1253I	LRP1B_uc010fnl.1_Missense_Mutation_p.T435I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1253	Extracellular (Potential).				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)		ACCAACACTTGTACAACTTTC	0.368										TSP Lung(27;0.18)		
NEB	4703	broad.mit.edu	37	2	152534219	152534219	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:152534219C>T	uc010fnx.2	-	34	3825	c.3634G>A	c.(3634-3636)GAC>AAC	p.D1212N		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1212	Nebulin 30.				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)		TTTTCGACGTCGAGACTGCCA	0.463												
CACNB4	785	broad.mit.edu	37	2	152695797	152695797	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:152695797C>T	uc002tya.2	-	14	1467	c.1399G>A	c.(1399-1401)GCT>ACT	p.A467T	CACNB4_uc002txy.2_Missense_Mutation_p.A433T|CACNB4_uc002txz.2_Missense_Mutation_p.A449T|CACNB4_uc010fnz.2_Missense_Mutation_p.A405T	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	467					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CTCTTCCGAGCCCTTTCATTG	0.453												
NR4A2	4929	broad.mit.edu	37	2	157182439	157182439	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:157182439G>A	uc002tyz.3	-	8	2036	c.1614C>T	c.(1612-1614)CAC>CAT	p.H538H	NR4A2_uc002tyx.3_Silent_p.H475H|NR4A2_uc010zcf.1_Silent_p.H538H	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	538					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TGAAAGTCACGTGGTCTTTGA	0.463												
NR4A2	4929	broad.mit.edu	37	2	157185040	157185040	+	Silent	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:157185040T>G	uc002tyz.3	-	4	1292	c.870A>C	c.(868-870)ACA>ACC	p.T290T	NR4A2_uc002tyx.3_Silent_p.T227T|NR4A2_uc010zcf.1_Silent_p.T290T|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	290	Nuclear receptor.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TTTTTTGCACTGTGCGCTGCA	0.423												
GALNT5	11227	broad.mit.edu	37	2	158162273	158162273	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:158162273G>C	uc002tzg.2	+	8	2707	c.2452G>C	c.(2452-2454)GCT>CCT	p.A818P	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	818	Lumenal (Potential).|Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						TATTAATGTGGCTTTGGGTAA	0.323												
CYTIP	9595	broad.mit.edu	37	2	158272539	158272539	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:158272539T>G	uc002tzj.1	-	8	802	c.730A>C	c.(730-732)AGC>CGC	p.S244R	CYTIP_uc010zcl.1_Missense_Mutation_p.S138R	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	244	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						TTACAGCTGCTCTCACTGGAT	0.557												
PKP4	8502	broad.mit.edu	37	2	159481597	159481597	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:159481597G>A	uc002tzv.2	+	7	1071	c.811G>A	c.(811-813)GCA>ACA	p.A271T	PKP4_uc002tzt.1_Missense_Mutation_p.A123T|PKP4_uc002tzu.2_Missense_Mutation_p.A271T|PKP4_uc002tzw.2_Missense_Mutation_p.A271T|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.A269T|PKP4_uc002uaa.2_Missense_Mutation_p.A123T	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	271					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						TGCTGCACGGGCAGCCTCTCC	0.602										HNSCC(62;0.18)		
BAZ2B	29994	broad.mit.edu	37	2	160193529	160193529	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:160193529C>T	uc002uao.2	-	33	6072	c.5720G>A	c.(5719-5721)CGC>CAC	p.R1907H	BAZ2B_uc002uap.2_Missense_Mutation_p.R1871H	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1907					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TGCAGCACTGCGAGCTTCTGA	0.373												
BAZ2B	29994	broad.mit.edu	37	2	160206342	160206342	+	Silent	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:160206342A>C	uc002uao.2	-	28	5092	c.4740T>G	c.(4738-4740)ACT>ACG	p.T1580T	BAZ2B_uc002uap.2_Silent_p.T1544T	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CCAAAGAAGCAGTTGACATAT	0.448												
BAZ2B	29994	broad.mit.edu	37	2	160335108	160335108	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:160335108A>G	uc002uao.2	-	3	475	c.123T>C	c.(121-123)CTT>CTC	p.L41L	BAZ2B_uc002uap.2_Silent_p.L41L|BAZ2B_uc002uas.1_Silent_p.L41L|BAZ2B_uc002uau.1_Silent_p.L41L|BAZ2B_uc002uat.3_Silent_p.L41L|BAZ2B_uc010fop.1_Silent_p.L41L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TTGTAGAGCTAAGTGAAGCAA	0.388												
KCNH7	90134	broad.mit.edu	37	2	163228379	163228379	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:163228379A>C	uc002uch.1	-	16	3763	c.3551T>G	c.(3550-3552)CTT>CGT	p.L1184R		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	1184	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	ATGCCTATGAAGACCCACGAT	0.398												
KCNH7	90134	broad.mit.edu	37	2	163374321	163374321	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:163374321G>A	uc002uch.1	-	4	1023	c.811C>T	c.(811-813)CGG>TGG	p.R271W	KCNH7_uc002uci.2_Missense_Mutation_p.R271W	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	271	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	GATGCTCTCCGTATACTACAT	0.468												
FIGN	55137	broad.mit.edu	37	2	164467697	164467697	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:164467697A>G	uc002uck.1	-	3	956	c.645T>C	c.(643-645)CAT>CAC	p.H215H		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	215	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GCCCAGAGCTATGCAAAGGAG	0.532												
SLC38A11	151258	broad.mit.edu	37	2	165754992	165754992	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:165754992C>T	uc002ucv.1	-	13	1713	c.1176G>A	c.(1174-1176)CAG>CAA	p.Q392Q	SLC38A11_uc002ucu.1_Silent_p.Q370Q|SLC38A11_uc002ucw.1_Silent_p.Q392Q	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	392	Cytoplasmic (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1						GTGTTGTCTGCTGAACATGAG	0.338												
SCN3A	6328	broad.mit.edu	37	2	166032691	166032691	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:166032691T>C	uc002ucx.2	-	3	706	c.214A>G	c.(214-216)ATG>GTG	p.M72V	SCN3A_uc002ucy.2_Missense_Mutation_p.M72V|SCN3A_uc002ucz.2_Missense_Mutation_p.M72V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	72						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	TCTGACACCATCTCTGGAGGA	0.368												
SCN1A	6323	broad.mit.edu	37	2	166848647	166848647	+	Missense_Mutation	SNP	C	C	A	rs121918816		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:166848647C>A	uc010zcz.1	-	26	5123	c.5105G>T	c.(5104-5106)AGC>ATC	p.S1702I		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1713	IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCAGATCATGCTGTTGCCAAA	0.458												
SCN1A	6323	broad.mit.edu	37	2	166894547	166894547	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:166894547G>A	uc010zcz.1	-	15	2670	c.2652C>T	c.(2650-2652)CTC>CTT	p.L884L	SCN1A_uc002udo.3_Silent_p.L764L|SCN1A_uc010fpk.2_Silent_p.L736L	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	895	II.|Helical; Name=S5 of repeat II; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGGCCAAGACGAGGGTTAAAT	0.458												
XIRP2	129446	broad.mit.edu	37	2	167760318	167760318	+	Missense_Mutation	SNP	G	G	A	rs111792328	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:167760318G>A	uc002udx.2	+	1	344	c.326G>A	c.(325-327)CGC>CAC	p.R109H	XIRP2_uc010fpn.2_Missense_Mutation_p.R109H|XIRP2_uc010fpo.2_Missense_Mutation_p.R109H|XIRP2_uc010fpp.2_Missense_Mutation_p.R109H	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	Error:Variant_position_missing_in_A4UGR9_after_alignment					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AGGATTGAACGCTTTTCCATT	0.502												
XIRP2	129446	broad.mit.edu	37	2	168103103	168103103	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:168103103A>C	uc002udx.2	+	8	5219	c.5201A>C	c.(5200-5202)AAA>ACA	p.K1734T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K1559T|XIRP2_uc010fpq.2_Missense_Mutation_p.K1512T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1559					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GAAAGGGCTAAAATTGATGCC	0.373												
XIRP2	129446	broad.mit.edu	37	2	168110607	168110607	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:168110607C>T	uc002udx.2	+	9	10639	c.10621C>T	c.(10621-10623)CCT>TCT	p.P3541S	XIRP2_uc010fpn.2_Silent_p.C447C|XIRP2_uc010fpo.2_Silent_p.C414C|XIRP2_uc010fpp.2_Silent_p.C414C|XIRP2_uc010fpq.2_Missense_Mutation_p.P3319S|XIRP2_uc010fpr.2_Silent_p.C192C	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	3366					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						CAATGGAGTGCCTAGTGGCAG	0.363												
LRP2	4036	broad.mit.edu	37	2	170103435	170103435	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:170103435C>T	uc002ues.2	-	21	3183	c.2970G>A	c.(2968-2970)CCG>CCA	p.P990P	LRP2_uc010zdf.1_Silent_p.P853P	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	990	EGF-like 4.|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)	AATTTGGCACCGGGAAGCAGA	0.542												
LRP2	4036	broad.mit.edu	37	2	170112738	170112738	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:170112738C>T	uc002ues.2	-	19	2861	c.2648G>A	c.(2647-2649)CGA>CAA	p.R883Q	LRP2_uc010zdf.1_Missense_Mutation_p.R746Q	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	883	LDL-receptor class B 9.|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)	CCAGTACAATCGTGAAGCACT	0.383												
SP5	389058	broad.mit.edu	37	2	171573716	171573716	+	Silent	SNP	C	C	T	rs147780061	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:171573716C>T	uc002uge.2	+	2	1165	c.999C>T	c.(997-999)TGC>TGT	p.C333C		NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	333	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGCTCTTCTGCGGGAAGAGCT	0.672												
TLK1	9874	broad.mit.edu	37	2	171853207	171853207	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:171853207C>A	uc002ugn.2	-	20	2552	c.2080G>T	c.(2080-2082)GAA>TAA	p.E694*	TLK1_uc002ugo.2_Nonsense_Mutation_p.E715*|TLK1_uc002ugp.2_Nonsense_Mutation_p.E646*|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Nonsense_Mutation_p.E598*	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	694	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						AACTGGACTTCTGTGGCTTTT	0.318												
DLX1	1745	broad.mit.edu	37	2	172950494	172950494	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:172950494T>C	uc002uhl.2	+	1	287	c.89T>C	c.(88-90)ATG>ACG	p.M30T	DLX1_uc010fqj.1_Missense_Mutation_p.M30T|DLX1_uc002uhm.2_Missense_Mutation_p.M30T	NM_178120	NP_835221	P56177	DLX1_HUMAN	distal-less homeobox 1 isoform 1	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AACCAGCAAATGTCTCCTTCT	0.602												
ATF2	1386	broad.mit.edu	37	2	175986238	175986238	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:175986238G>T	uc002ujl.2	-	5	395	c.133C>A	c.(133-135)CAT>AAT	p.H45N	ATF2_uc010fqv.2_Intron|ATF2_uc002ujv.2_5'UTR|ATF2_uc002ujm.2_Intron|ATF2_uc002ujn.2_Intron|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Missense_Mutation_p.H45N|ATF2_uc002ujr.2_RNA|ATF2_uc010fqu.2_Missense_Mutation_p.H27N|ATF2_uc002ujs.2_Intron|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_Intron|ATF2_uc002ujw.1_Intron|ATF2_uc002ujx.1_RNA|ATF2_uc002ujy.1_Missense_Mutation_p.H45N	NM_001880	NP_001871	P15336	ATF2_HUMAN	activating transcription factor 2	45	C2H2-type.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(1)|breast(1)|pancreas(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.125)			TTATGTTTATGGACAGCCAAA	0.318												
HOXD12	3238	broad.mit.edu	37	2	176965308	176965308	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:176965308G>A	uc010zev.1	+	2	633	c.633G>A	c.(631-633)AAG>AAA	p.K211K	HOXD12_uc010zew.1_Missense_Mutation_p.A221T	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	211	Homeobox.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCTACACGAAGCAGCAGATTG	0.597												
HOXD9	3235	broad.mit.edu	37	2	176987685	176987685	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:176987685C>T	uc010zex.1	+	1	273	c.189C>T	c.(187-189)TTC>TTT	p.F63F		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	63						nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCGCCGAGTTCGCCTCGTGTA	0.756												
HOXD9	3235	broad.mit.edu	37	2	176988179	176988179	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:176988179C>T	uc010zex.1	+	1	767	c.683C>T	c.(682-684)GCA>GTA	p.A228V		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	228						nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGGCCTGGGGCAGGGATCGGG	0.716												
TTN	7273	broad.mit.edu	37	2	179398978	179398978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:179398978C>A	uc010zfg.1	-	307	94884	c.94660G>T	c.(94660-94662)GGA>TGA	p.G31554*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.G25249*|TTN_uc010zfi.1_Nonsense_Mutation_p.G25182*|TTN_uc010zfj.1_Nonsense_Mutation_p.G25057*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32481							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)			ACACTCACTCCCTTCTGAGAT	0.468												
TTN	7273	broad.mit.edu	37	2	179404476	179404476	+	Silent	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:179404476A>C	uc010zfg.1	-	301	90836	c.90612T>G	c.(90610-90612)ACT>ACG	p.T30204T	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T23899T|TTN_uc010zfi.1_Silent_p.T23832T|TTN_uc010zfj.1_Silent_p.T23707T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31131							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)			CCAGGTCATAAGTGCCAGAAT	0.473												
TTN	7273	broad.mit.edu	37	2	179412829	179412829	+	Missense_Mutation	SNP	C	C	T	rs72648251		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:179412829C>T	uc010zfg.1	-	288	86044	c.85820G>A	c.(85819-85821)CGT>CAT	p.R28607H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22302H|TTN_uc010zfi.1_Missense_Mutation_p.R22235H|TTN_uc010zfj.1_Missense_Mutation_p.R22110H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29534							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)			CTCAACAAGACGCTCTACTGT	0.463												
TTN	7273	broad.mit.edu	37	2	179497513	179497513	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:179497513G>T	uc010zfg.1	-	184	35740	c.35516C>A	c.(35515-35517)CCT>CAT	p.P11839H	TTN_uc010zfh.1_Missense_Mutation_p.P5534H|TTN_uc010zfi.1_Missense_Mutation_p.P5467H|TTN_uc010zfj.1_Missense_Mutation_p.P5342H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12766							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)			GAAGATAAGAGGCAATTCTGA	0.433												
TTN	7273	broad.mit.edu	37	2	179596093	179596093	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:179596093A>G	uc010zfg.1	-	56	13892	c.13668T>C	c.(13666-13668)TAT>TAC	p.Y4556Y	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.Y1217Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5483							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)			CCTGACAGACATATTTCCCAT	0.403												
SSFA2	6744	broad.mit.edu	37	2	182784161	182784161	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:182784161C>A	uc002uoi.2	+	14	3454	c.3132C>A	c.(3130-3132)TCC>TCA	p.S1044S	SSFA2_uc002uoh.2_Silent_p.S1044S|SSFA2_uc002uoj.2_Silent_p.S1044S|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Silent_p.S891S|SSFA2_uc002uol.2_Silent_p.S891S|SSFA2_uc002uom.2_Silent_p.S512S	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	1044						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCTTCCGCTCCTCCGCACTCA	0.532												
FRZB	2487	broad.mit.edu	37	2	183730898	183730898	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:183730898T>C	uc002upa.1	-	1	601	c.383A>G	c.(382-384)CAC>CGC	p.H128R		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	128	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CGGCCACGAGTGGCGGTACTT	0.627												
COL5A2	1290	broad.mit.edu	37	2	189904121	189904121	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:189904121C>T	uc002uqk.2	-	51	4077	c.3802G>A	c.(3802-3804)GTT>ATT	p.V1268I	COL5A2_uc010frx.2_Missense_Mutation_p.V844I	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1268	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)			GTAGCATGAACCCCTGGGTCC	0.512												
OSGEPL1	64172	broad.mit.edu	37	2	190618642	190618642	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:190618642C>A	uc002uqz.1	-	5	1497	c.963G>T	c.(961-963)CTG>CTT	p.L321L	OSGEPL1_uc002ura.1_RNA	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	321					proteolysis|tRNA processing		metalloendopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			TAAAACTTACCAGTACTGCAT	0.358												
HECW2	57520	broad.mit.edu	37	2	197183867	197183867	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:197183867C>A	uc002utm.1	-	9	1930	c.1747G>T	c.(1747-1749)GGG>TGG	p.G583W	HECW2_uc002utl.1_Missense_Mutation_p.G227W	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	583					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						TCGGAAGTCCCTGTGTCTGCG	0.592												
RFTN2	130132	broad.mit.edu	37	2	198436793	198436793	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:198436793C>A	uc002uuo.3	-	9	1847	c.1445G>T	c.(1444-1446)CGG>CTG	p.R482L		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	482						plasma membrane					0						GTCTAATTCCCGGAGGACGTT	0.532												
ORC2L	4999	broad.mit.edu	37	2	201798648	201798648	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:201798648A>G	uc002uwr.2	-	10	1015	c.758T>C	c.(757-759)TTA>TCA	p.L253S	ORC2L_uc010zhj.1_Missense_Mutation_p.L253S	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	253					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0						ATCAGAGGTTAAAACTTTTGA	0.353												
CASP8	841	broad.mit.edu	37	2	202131283	202131283	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:202131283T>C	uc002uxr.1	+	3	283	c.74T>C	c.(73-75)CTG>CCG	p.L25P	CASP8_uc010ftc.1_Missense_Mutation_p.L25P|CASP8_uc002uxo.1_Missense_Mutation_p.L25P|CASP8_uc002uxp.1_Missense_Mutation_p.L25P|CASP8_uc002uxq.1_Missense_Mutation_p.L25P|CASP8_uc002uxs.1_Missense_Mutation_p.L25P|CASP8_uc002uxt.1_Missense_Mutation_p.L84P|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.L25P|CASP8_uc002uxw.1_Missense_Mutation_p.L25P|CASP8_uc002uxy.1_Missense_Mutation_p.L25P|CASP8_uc002uxx.1_Missense_Mutation_p.L25P|CASP8_uc010ftf.2_Missense_Mutation_p.L25P	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	25	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						CTCAAGTTCCTGAGCCTGGAC	0.433										HNSCC(4;0.00038)		
ALS2	57679	broad.mit.edu	37	2	202590095	202590095	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:202590095C>T	uc002uyo.2	-	20	3687	c.3331G>A	c.(3331-3333)GGT>AGT	p.G1111S	ALS2_uc002uyp.3_Missense_Mutation_p.G1111S|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1111	MORN 3.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						ACTCCTTGACCGCACATTTTT	0.388												
ALS2	57679	broad.mit.edu	37	2	202591207	202591207	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:202591207C>T	uc002uyo.2	-	19	3604	c.3248G>A	c.(3247-3249)GGG>GAG	p.G1083E	ALS2_uc002uyp.3_Missense_Mutation_p.G1083E|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1083	MORN 2.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						ATTTTCTTACCCATCTTCCAA	0.373												
BMPR2	659	broad.mit.edu	37	2	203378520	203378520	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:203378520T>C	uc002uzf.3	+	4	1645	c.497T>C	c.(496-498)GTT>GCT	p.V166A	BMPR2_uc010ftr.2_Missense_Mutation_p.V166A	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	166	Helical; (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						GTTTTGATAGTTGCCTTATGC	0.308												
ABI2	10152	broad.mit.edu	37	2	204259439	204259439	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:204259439C>T	uc002vaa.2	+	6	830	c.595C>T	c.(595-597)CGC>TGC	p.R199C	ABI2_uc010zig.1_Intron|ABI2_uc002uzz.2_Missense_Mutation_p.R193C|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Missense_Mutation_p.R193C|ABI2_uc010zij.1_Missense_Mutation_p.R137C|ABI2_uc002vab.2_Missense_Mutation_p.R148C|ABI2_uc010zik.1_Intron|ABI2_uc010zil.1_Missense_Mutation_p.R34C|ABI2_uc010zim.1_Intron|ABI2_uc002vac.2_Intron|ABI2_uc010zin.1_5'UTR	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	abl interactor 2	199	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0						CTCCCCCTATCGCACACTGGA	0.498												
C2orf67	151050	broad.mit.edu	37	2	211018420	211018420	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:211018420A>G	uc002vds.2	-	2	1095	c.887T>C	c.(886-888)GTT>GCT	p.V296A	C2orf67_uc002vdt.2_Missense_Mutation_p.V296A|C2orf67_uc002vdw.2_Missense_Mutation_p.V296A|C2orf67_uc002vdy.1_Missense_Mutation_p.V296A|C2orf67_uc002vdv.2_Missense_Mutation_p.V296A|C2orf67_uc002vdx.1_Missense_Mutation_p.V296A	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	296										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		CAATGTGTTAACTTCTGGCTT	0.373												
ERBB4	2066	broad.mit.edu	37	2	212812286	212812286	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:212812286A>G	uc002veg.1	-	3	388	c.290T>C	c.(289-291)CTG>CCG	p.L97P	ERBB4_uc002veh.1_Missense_Mutation_p.L97P|ERBB4_uc010zji.1_Missense_Mutation_p.L97P|ERBB4_uc010zjj.1_Missense_Mutation_p.L97P|ERBB4_uc010fut.1_Missense_Mutation_p.L97P	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	97	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTCCAGAGGCAGGTAACGAAA	0.388										TSP Lung(8;0.080)		
ERBB4	2066	broad.mit.edu	37	2	212989563	212989563	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:212989563G>A	uc002veg.1	-	2	246	c.148C>T	c.(148-150)CGC>TGC	p.R50C	ERBB4_uc002veh.1_Missense_Mutation_p.R50C|ERBB4_uc010zji.1_Missense_Mutation_p.R50C|ERBB4_uc010zjj.1_Missense_Mutation_p.R50C|ERBB4_uc010fut.1_Missense_Mutation_p.R50C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	50	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TAGTACTTGCGCAAGGCTCGG	0.493										TSP Lung(8;0.080)		
C2orf62	375307	broad.mit.edu	37	2	219221845	219221845	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:219221845C>T	uc002vhr.2	+	2	82	c.53C>T	c.(52-54)TCG>TTG	p.S18L	C2orf62_uc002vhs.2_5'Flank	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	18											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCAGCCCTCGGGTCCGGAG	0.637												
CYP27A1	1593	broad.mit.edu	37	2	219674352	219674352	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:219674352A>T	uc002viz.3	+	2	742	c.308A>T	c.(307-309)CAG>CTG	p.Q103L		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	103					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TTAGGGCCTCAGATGCACGTG	0.547												
NHEJ1	79840	broad.mit.edu	37	2	219941984	219941984	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:219941984G>T	uc002vjp.3	-	7	955	c.809C>A	c.(808-810)CCT>CAT	p.P270H	NHEJ1_uc002vjq.3_RNA	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	270					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			lung(1)	1		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CTCTTTCTCAGGTGCTGAGAG	0.532								Direct_reversal_of_damage|NHEJ				
ANKZF1	55139	broad.mit.edu	37	2	220097230	220097230	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220097230C>T	uc002vkg.2	+	5	557	c.383C>T	c.(382-384)TCG>TTG	p.S128L	ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank|ANKZF1_uc010zkv.1_Missense_Mutation_p.S72L|ANKZF1_uc010zkw.1_5'UTR|ANKZF1_uc002vkh.2_5'UTR|ANKZF1_uc002vki.2_Missense_Mutation_p.S128L|ANKZF1_uc002vkj.1_Missense_Mutation_p.S116L	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	128						intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGCATCTCGGGATCAGAA	0.463												
ANKZF1	55139	broad.mit.edu	37	2	220099718	220099718	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220099718C>T	uc002vkg.2	+	10	1549	c.1375C>T	c.(1375-1377)CTC>TTC	p.L459F	ANKZF1_uc010zkv.1_3'UTR|ANKZF1_uc010zkw.1_3'UTR|ANKZF1_uc002vkh.2_Missense_Mutation_p.L249F|ANKZF1_uc002vki.2_Missense_Mutation_p.L459F|ANKZF1_uc002vkj.1_3'UTR	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	459						intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGGACTCTTCTCCAGCAAAC	0.557												
DNPEP	23549	broad.mit.edu	37	2	220251035	220251035	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220251035C>T	uc010zlg.1	-	5	538	c.456G>A	c.(454-456)CTG>CTA	p.L152L	DNPEP_uc010zlf.1_5'Flank|DNPEP_uc002vle.2_Silent_p.L144L|DNPEP_uc002vlf.1_Silent_p.L130L|DNPEP_uc002vlh.2_Silent_p.L91L|DNPEP_uc002vli.1_Silent_p.L91L|DNPEP_uc002vlj.2_Silent_p.L134L|uc002vlk.1_5'Flank	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	134					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CAGCCAGAGTCAGGTCACGGT	0.617												
DNPEP	23549	broad.mit.edu	37	2	220251118	220251118	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220251118G>A	uc010zlg.1	-	5	455	c.373C>T	c.(373-375)CGC>TGC	p.R125C	DNPEP_uc010zlf.1_5'Flank|DNPEP_uc002vle.2_Missense_Mutation_p.R117C|DNPEP_uc002vlf.1_Missense_Mutation_p.R103C|DNPEP_uc002vlh.2_Missense_Mutation_p.R64C|DNPEP_uc002vli.1_Missense_Mutation_p.R64C|DNPEP_uc002vlj.2_Missense_Mutation_p.R107C|uc002vlk.1_5'Flank	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	107					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	TGGCTGCGGCGAGACCGACGT	0.542												
SPEG	10290	broad.mit.edu	37	2	220313050	220313050	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220313050G>A	uc010fwg.2	+	4	1170	c.1170G>A	c.(1168-1170)TCG>TCA	p.S390S	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	390					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGGCCGATCGCCTAGGCTGG	0.736												
GMPPA	29926	broad.mit.edu	37	2	220368861	220368861	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220368861C>T	uc002vlr.2	+	7	614	c.546C>T	c.(544-546)GGC>GGT	p.G182G	GMPPA_uc002vls.2_Silent_p.G182G|GMPPA_uc002vlt.2_Silent_p.G182G|GMPPA_uc002vlu.2_Silent_p.G182G|GMPPA_uc002vlv.2_Silent_p.G182G|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Silent_p.G182G	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	182					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCAACTGCGGCATCTACCTCT	0.488												
OBSL1	23363	broad.mit.edu	37	2	220435508	220435508	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220435508G>A	uc010fwk.2	-	1	504	c.447C>T	c.(445-447)TGC>TGT	p.C149C	OBSL1_uc002vmi.2_Silent_p.C149C|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	149	Ig-like 2.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCCCCGCCCGGCACGTCAGCA	0.746												
EPHA4	2043	broad.mit.edu	37	2	222428510	222428510	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:222428510A>G	uc002vmq.2	-	3	806	c.764T>C	c.(763-765)GTA>GCA	p.V255A	EPHA4_uc002vmr.2_Missense_Mutation_p.V255A|EPHA4_uc010zlm.1_Missense_Mutation_p.V196A|EPHA4_uc010zln.1_Missense_Mutation_p.V255A	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	255	Cys-rich.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCCAATGGGTACCAGCCATTC	0.512												
RHBDD1	84236	broad.mit.edu	37	2	227729646	227729646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:227729646G>A	uc002voi.2	+	2	358	c.237G>A	c.(235-237)TGG>TGA	p.W79*	RHBDD1_uc010fxc.2_Nonsense_Mutation_p.W79*	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	79						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CTGATGATTGGCATTTGTATT	0.438												
COL4A4	1286	broad.mit.edu	37	2	227919310	227919310	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:227919310C>A	uc010zlt.1	-	31	3514	c.2860G>T	c.(2860-2862)GGA>TGA	p.G954*		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	954	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)		TTTTATTTACCTTTGGCCCCT	0.473												
COL4A3	1285	broad.mit.edu	37	2	228154792	228154792	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:228154792A>G	uc002vom.1	+	36	3220	c.3058A>G	c.(3058-3060)ATG>GTG	p.M1020V	COL4A3_uc002von.1_Missense_Mutation_p.M1020V|COL4A3_uc002voo.1_Missense_Mutation_p.M1020V|COL4A3_uc002vop.1_Missense_Mutation_p.M1020V|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1020	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CATGGGGAACATGGGCATGCC	0.488												
MFF	56947	broad.mit.edu	37	2	228207513	228207513	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:228207513C>T	uc002vos.2	+	7	989	c.571C>T	c.(571-573)CCG>TCG	p.P191S	MFF_uc002vot.2_Intron|MFF_uc002vou.2_Intron|MFF_uc002vov.2_Intron|MFF_uc002vow.2_Missense_Mutation_p.P165S|MFF_uc002vox.2_Intron|MFF_uc002voy.2_Missense_Mutation_p.P191S|MFF_uc002voz.2_Intron	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	191	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane				large_intestine(1)	1						GTTCCAGGCACCGATTTCTGC	0.343												
SPHKAP	80309	broad.mit.edu	37	2	228884188	228884188	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:228884188G>A	uc002vpq.2	-	7	1429	c.1382C>T	c.(1381-1383)GCT>GTT	p.A461V	SPHKAP_uc002vpp.2_Missense_Mutation_p.A461V|SPHKAP_uc010zlx.1_Missense_Mutation_p.A461V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	461						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGTGGGGCAGCATCACTGCC	0.522												
SP100	6672	broad.mit.edu	37	2	231327216	231327216	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:231327216C>T	uc002vqt.2	+	10	1181	c.1040C>T	c.(1039-1041)GCA>GTA	p.A347V	SP100_uc002vqs.2_Missense_Mutation_p.A347V|SP100_uc002vqu.1_Missense_Mutation_p.A347V|SP100_uc010zmb.1_Missense_Mutation_p.A347V|SP100_uc002vqq.1_Missense_Mutation_p.A347V|SP100_uc002vqr.1_Missense_Mutation_p.A322V|SP100_uc010zmc.1_Missense_Mutation_p.A322V|SP100_uc002vqv.1_Missense_Mutation_p.A311V	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	347					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTCATCTCAGCACCGAGAAGT	0.468												
C2orf57	165100	broad.mit.edu	37	2	232458288	232458288	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:232458288C>T	uc002vrz.2	+	1	677	c.626C>T	c.(625-627)GCT>GTT	p.A209V		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	209										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GAAGCTGAAGCTTTACCATCT	0.582												
PDE6D	5147	broad.mit.edu	37	2	232597730	232597730	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:232597730T>C	uc002vse.1	-	5	535	c.385A>G	c.(385-387)ATA>GTA	p.I129V		NM_002601	NP_002592	O43924	PDE6D_HUMAN	phosphodiesterase 6D	129					regulation of GTP catabolic process|response to stimulus|visual perception		3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding				0		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		TTTGTTTCTATGATAACGTTC	0.378												
GIGYF2	26058	broad.mit.edu	37	2	233681683	233681683	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:233681683C>T	uc002vti.3	+	22	2648	c.2311C>T	c.(2311-2313)CGA>TGA	p.R771*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.R771*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.R765*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.R792*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.R771*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.R765*|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Nonsense_Mutation_p.R602*|GIGYF2_uc002vtq.3_Nonsense_Mutation_p.R104*	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	771	Gln-rich.|Glu-rich.				cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AATTCTTCGGCGACAGCAGGA	0.483												
NEU2	4759	broad.mit.edu	37	2	233897495	233897495	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:233897495G>A	uc010zmn.1	+	1	114	c.114G>A	c.(112-114)GCG>GCA	p.A38A		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	38							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TGGCCTTCGCGGAACAGCGGG	0.627												
NEU2	4759	broad.mit.edu	37	2	233899254	233899254	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:233899254C>A	uc010zmn.1	+	2	630	c.630C>A	c.(628-630)CAC>CAA	p.H210Q		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	210							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CGCGAGGGCACTTTGTGGCCC	0.657												
NEU2	4759	broad.mit.edu	37	2	233899485	233899485	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:233899485C>T	uc010zmn.1	+	2	861	c.861C>T	c.(859-861)GGC>GGT	p.G287G		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	neuraminidase 2	287							exo-alpha-sialidase activity				0		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CGGGGCCTGGCTCCCCAGCCC	0.687												
USP40	55230	broad.mit.edu	37	2	234405468	234405468	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:234405468A>G	uc010zmr.1	-	23	2759	c.2759T>C	c.(2758-2760)CTG>CCG	p.L920P	USP40_uc010zms.1_Missense_Mutation_p.L18P|USP40_uc002vun.2_Missense_Mutation_p.L84P|USP40_uc002vuo.1_Missense_Mutation_p.L84P	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	ubiquitin thioesterase 40	908					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)		AAGTTCTTTCAGTGTTGCATC	0.353												
UGT1A5	54579	broad.mit.edu	37	2	234621913	234621913	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:234621913T>C	uc002vuw.2	+	1	276	c.276T>C	c.(274-276)CTT>CTC	p.L92L	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.L92L	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	92					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TTGATCGCCTTTTGCTGGGTC	0.393												
UGT1A3	54659	broad.mit.edu	37	2	234638243	234638243	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:234638243C>T	uc002vuy.2	+	1	471	c.471C>T	c.(469-471)TGC>TGT	p.C157C	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Silent_p.C157C	NM_019093	NP_061966	P35503	UD13_HUMAN	UDP glycosyltransferase 1 family, polypeptide A3	157					flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTAACCTCTGCGCGGCAGTGC	0.458												
HJURP	55355	broad.mit.edu	37	2	234750828	234750828	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:234750828T>C	uc002vvg.2	-	8	664	c.598A>G	c.(598-600)AAG>GAG	p.K200E	HJURP_uc010znd.1_Missense_Mutation_p.K139E|HJURP_uc010zne.1_Missense_Mutation_p.K108E	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	200					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CCAGGACTCTTTCTGGAGATA	0.453												
GBX2	2637	broad.mit.edu	37	2	237075079	237075079	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:237075079G>A	uc002vvw.1	-	2	563	c.525C>T	c.(523-525)GTC>GTT	p.V175V	GBX2_uc010zng.1_Missense_Mutation_p.R178W	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	175				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGACAGCCCCGACTGAAAGCA	0.567												
PER2	8864	broad.mit.edu	37	2	239164366	239164366	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:239164366A>G	uc002vyc.2	-	18	2489	c.2252T>C	c.(2251-2253)CTC>CCC	p.L751P	PER2_uc010znv.1_Missense_Mutation_p.L751P	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	751	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GAAAATGCTGAGTTTTCTTAT	0.473												
HDAC4	9759	broad.mit.edu	37	2	239976531	239976531	+	Splice_Site	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:239976531T>C	uc002vyk.3	-	25	3781	c.2989_splice	c.e25-1	p.L997_splice	HDAC4_uc010fyy.2_Splice_Site_p.L954_splice	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4						B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGGATCAAGCTGGAAGAAAAT	0.468												
GPR35	2859	broad.mit.edu	37	2	241569724	241569724	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:241569724C>T	uc002vzs.1	+	1	930	c.355C>T	c.(355-357)CGG>TGG	p.R119W	GPR35_uc010fzh.1_Missense_Mutation_p.R150W|GPR35_uc010fzi.1_Missense_Mutation_p.R150W	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	119	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(2)|pancreas(1)	3		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TGTGGCCGTGCGGCACCCGCT	0.706												
KIF1A	547	broad.mit.edu	37	2	241726716	241726716	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:241726716G>A	uc002vzy.2	-	5	527	c.381C>T	c.(379-381)TTC>TTT	p.F127F	KIF1A_uc010fzk.2_Silent_p.F127F|KIF1A_uc002vzz.1_Silent_p.F127F	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	127	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGATCCGAGAGAAGAGGTCCT	0.652												
HDLBP	3069	broad.mit.edu	37	2	242194559	242194559	+	Silent	SNP	G	G	A	rs150350953		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:242194559G>A	uc002waz.2	-	9	1323	c.1095C>T	c.(1093-1095)ACC>ACT	p.T365T	HDLBP_uc002wba.2_Silent_p.T365T|HDLBP_uc002wbb.2_Silent_p.T317T|HDLBP_uc010fzn.1_Silent_p.T94T	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	365	KH 3.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		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)		CAGAGGAGACGGTGAAGCTAT	0.542												
RBCK1	10616	broad.mit.edu	37	20	409696	409696	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:409696C>A	uc002wdp.3	+	11	2103	c.1410C>A	c.(1408-1410)ACC>ACA	p.T470T	RBCK1_uc002wdq.3_Silent_p.T428T|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Silent_p.T300T	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	470	IBR-type 2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TCTGCCACACCGAGATCTGCT	0.647												
SNPH	9751	broad.mit.edu	37	20	1285934	1285934	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:1285934G>A	uc002wes.2	+	6	957	c.721G>A	c.(721-723)GCA>ACA	p.A241T	SNPH_uc002wet.2_Missense_Mutation_p.A285T	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	241					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						TGAGGATGGGGCAGACAGTGG	0.667												
ZNF343	79175	broad.mit.edu	37	20	2474218	2474218	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:2474218G>A	uc002wge.1	-	4	612	c.124C>T	c.(124-126)CCT>TCT	p.P42S	ZNF343_uc010gao.1_Missense_Mutation_p.P42S|ZNF343_uc002wgd.1_5'Flank	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TCATTAGAAGGCAAGCCTAGG	0.502												
C20orf141	128653	broad.mit.edu	37	20	2796244	2796244	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:2796244C>T	uc010gat.2	+	3	404	c.321C>T	c.(319-321)GCC>GCT	p.A107A	C20orf141_uc002wgv.1_Intron|C20orf141_uc002wgw.2_Silent_p.A107A|uc002wgx.1_5'Flank|uc002wgy.1_5'Flank	NM_080739	NP_542777	Q9NUB4	CT141_HUMAN	hypothetical protein LOC128653	107	Leu-rich.					integral to membrane					0						GTCAGGGGGCCGGTGAAGGTC	0.612												
PTPRA	5786	broad.mit.edu	37	20	3016331	3016331	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:3016331G>A	uc010zqd.1	+	20	2371	c.2054G>A	c.(2053-2055)CGA>CAA	p.R685Q	PTPRA_uc002whj.2_Missense_Mutation_p.R674Q|PTPRA_uc002whk.2_Missense_Mutation_p.R665Q|PTPRA_uc002whl.2_Missense_Mutation_p.R665Q|PTPRA_uc002whm.2_Missense_Mutation_p.R441Q|PTPRA_uc002whn.2_Missense_Mutation_p.R665Q|PTPRA_uc002who.2_Missense_Mutation_p.R337Q	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	674	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						TACACCGTCCGAGACCTCCTG	0.547												
PTPRA	5786	broad.mit.edu	37	20	3017888	3017888	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:3017888A>G	uc010zqd.1	+	22	2637	c.2320A>G	c.(2320-2322)ACT>GCT	p.T774A	PTPRA_uc002whj.2_Missense_Mutation_p.T763A|PTPRA_uc002whk.2_Missense_Mutation_p.T754A|PTPRA_uc002whl.2_Missense_Mutation_p.T754A|PTPRA_uc002whm.2_Missense_Mutation_p.T530A|PTPRA_uc002whn.2_Missense_Mutation_p.T754A|PTPRA_uc002who.2_Missense_Mutation_p.T426A	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	763	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						TGTCTTCCAGACTGTCAAGAG	0.597												
ProSAPiP1	9762	broad.mit.edu	37	20	3147499	3147499	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:3147499C>T	uc002wia.1	-	1	1709	c.311G>A	c.(310-312)CGG>CAG	p.R104Q	ProSAPiP1_uc002wib.1_Missense_Mutation_p.R104Q	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	104						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						GTCACTGCCCCGCAGCTCACC	0.657												
ProSAPiP1	9762	broad.mit.edu	37	20	3147675	3147675	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:3147675G>T	uc002wia.1	-	1	1533	c.135C>A	c.(133-135)GCC>GCA	p.A45A	ProSAPiP1_uc002wib.1_Silent_p.A45A	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	45						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						CCTGGGCATGGGCCACCCCAC	0.721												
C20orf27	54976	broad.mit.edu	37	20	3739308	3739308	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:3739308G>A	uc002wji.1	-	3	266	c.37C>T	c.(37-39)CGG>TGG	p.R13W	C20orf27_uc002wjf.1_Missense_Mutation_p.R38W|C20orf27_uc002wjh.1_Missense_Mutation_p.R38W	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	hypothetical protein LOC54976	13											0						CGGATACTCCGGACTCTGGGC	0.602												
PANK2	80025	broad.mit.edu	37	20	3869793	3869793	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:3869793C>G	uc002wkc.2	+	1	52	c.46C>G	c.(46-48)CCG>GCG	p.P16A	uc002wjz.1_5'Flank|uc002wka.1_5'Flank|PANK2_uc002wkb.2_Intron|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'Flank|PANK2_uc002wkf.2_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2 isoform 1 preproprotein	16					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding				0						TTGGGCGGCGCCGCCATCACT	0.706												
SMOX	54498	broad.mit.edu	37	20	4158114	4158114	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:4158114G>A	uc002wkm.1	+	3	526	c.325G>A	c.(325-327)GTG>ATG	p.V109M	SMOX_uc002wkk.1_Missense_Mutation_p.V109M|SMOX_uc002wkl.1_Missense_Mutation_p.V109M|SMOX_uc002wkn.1_Missense_Mutation_p.V109M|SMOX_uc002wkp.2_Missense_Mutation_p.V109M|SMOX_uc010zqo.1_Missense_Mutation_p.V86M|SMOX_uc002wko.1_Missense_Mutation_p.V109M	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	109					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)	GGAACGCAGCGTGGGCCGCAT	0.582												
PRND	23627	broad.mit.edu	37	20	4705598	4705598	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:4705598G>A	uc002wkz.2	+	2	472	c.401G>A	c.(400-402)CGG>CAG	p.R134Q		NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	prion-like protein doppel preproprotein	134	Globular.				protein homooligomerization	anchored to membrane|plasma membrane					0						GTGCTCTGGCGGCTGGTCCAG	0.612												
PROKR2	128674	broad.mit.edu	37	20	5283252	5283252	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:5283252G>T	uc010zqw.1	-	2	589	c.589C>A	c.(589-591)CTC>ATC	p.L197I	PROKR2_uc010zqx.1_Missense_Mutation_p.L197I|PROKR2_uc010zqy.1_Missense_Mutation_p.L197I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	197	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						ACAATAAAGAGGACCGTTTCT	0.488										HNSCC(71;0.22)		
MCM8	84515	broad.mit.edu	37	20	5966645	5966645	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:5966645G>A	uc002wmi.2	+	16	2408	c.2031G>A	c.(2029-2031)GTG>GTA	p.V677V	MCM8_uc002wmj.2_Silent_p.V661V|MCM8_uc002wmk.2_Silent_p.V717V|MCM8_uc002wml.2_Silent_p.V677V|MCM8_uc010gbp.2_Silent_p.V630V|MCM8_uc002wmm.2_Silent_p.V215V	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	677					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1						GGCAGTATGTGTACCCAAGGC	0.463												
PLCB1	23236	broad.mit.edu	37	20	8609002	8609002	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:8609002T>A	uc002wnb.2	+	4	311	c.308T>A	c.(307-309)ATC>AAC	p.I103N	PLCB1_uc010zrb.1_Missense_Mutation_p.I2N|PLCB1_uc010gbv.1_Missense_Mutation_p.I103N|PLCB1_uc002wmz.1_Missense_Mutation_p.I103N|PLCB1_uc002wna.2_Missense_Mutation_p.I103N|PLCB1_uc002wnc.1_Missense_Mutation_p.I2N	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	103					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CAGCGCATGATCACAGTGGTG	0.453												
RRBP1	6238	broad.mit.edu	37	20	17617291	17617291	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:17617291C>T	uc002wpv.1	-	7	1323	c.969G>A	c.(967-969)ACG>ACA	p.T323T	RRBP1_uc002wpu.2_Silent_p.T97T|RRBP1_uc002wpw.1_Silent_p.T323T|RRBP1_uc010gcl.1_Silent_p.T97T|RRBP1_uc010gcm.1_5'UTR	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	756	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CCTGCACAGCCGTGATCTCCT	0.637												
SLC24A3	57419	broad.mit.edu	37	20	19665750	19665750	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:19665750A>T	uc002wrl.2	+	12	1266	c.1069A>T	c.(1069-1071)AGA>TGA	p.R357*		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	357	Cytoplasmic (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						CCAGAGACAAAGATTGATAAA	0.502												
RIN2	54453	broad.mit.edu	37	20	19981514	19981514	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:19981514A>G	uc002wro.1	+	11	2658	c.2622A>G	c.(2620-2622)AAA>AAG	p.K874K	RIN2_uc010gcu.1_Silent_p.K441K|RIN2_uc010gcv.1_Silent_p.K668K	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	874	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						TTGTCTACAAACGCATCAAGA	0.527												
XRN2	22803	broad.mit.edu	37	20	21307218	21307218	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:21307218C>A	uc002wsf.1	+	3	389	c.294C>A	c.(292-294)CTC>CTA	p.L98L	XRN2_uc002wsg.1_Silent_p.L22L|XRN2_uc010zsk.1_Silent_p.L44L	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	98					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						GAAGACTTCTCTACATGGCAA	0.348												
PAX1	5075	broad.mit.edu	37	20	21687127	21687127	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:21687127G>A	uc002wsj.2	+	2	392	c.338G>A	c.(337-339)CGC>CAC	p.R113H	PAX1_uc010zsl.1_Missense_Mutation_p.R113H|PAX1_uc010zsm.1_Missense_Mutation_p.R89H	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	113	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						GTCAACGGCCGCCCCCTGCCC	0.662												
FOXA2	3170	broad.mit.edu	37	20	22563630	22563630	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:22563630C>A	uc002wsn.2	-	3	422	c.232G>T	c.(232-234)GCG>TCG	p.A78S	FOXA2_uc002wsm.2_Missense_Mutation_p.A84S	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN	forkhead box A2 isoform 2	78	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4	Lung NSC(19;0.188)					GACATCCCCGCCAGGGACGGG	0.751												
NINL	22981	broad.mit.edu	37	20	25462724	25462724	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:25462724G>A	uc002wux.1	-	14	1764	c.1690C>T	c.(1690-1692)CGC>TGC	p.R564C	NINL_uc010gdn.1_Missense_Mutation_p.R564C|NINL_uc010gdo.1_Missense_Mutation_p.R347C	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	564	Potential.				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						TCATCGTTGCGGTCCTGCAGG	0.682												
TM9SF4	9777	broad.mit.edu	37	20	30729426	30729426	+	Missense_Mutation	SNP	G	G	A	rs139891092		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:30729426G>A	uc002wxj.2	+	4	591	c.356G>A	c.(355-357)CGA>CAA	p.R119Q	TM9SF4_uc010ztr.1_Missense_Mutation_p.R45Q|TM9SF4_uc010zts.1_Missense_Mutation_p.R26Q|TM9SF4_uc002wxk.2_Missense_Mutation_p.R102Q|TM9SF4_uc010gdz.2_Missense_Mutation_p.R26Q	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	119						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGCAGAGCCGACTCGTGGCC	0.577												
KIF3B	9371	broad.mit.edu	37	20	30904370	30904370	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:30904370G>A	uc002wxq.2	+	4	1714	c.1547G>A	c.(1546-1548)CGA>CAA	p.R516Q	KIF3B_uc010ztw.1_Missense_Mutation_p.R454Q	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	516	Potential.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGGAAAGTCGAGATGAGGAG	0.443												
DNMT3B	1789	broad.mit.edu	37	20	31376725	31376725	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:31376725C>A	uc002wyc.2	+	7	1041	c.720C>A	c.(718-720)CCC>CCA	p.P240P	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.P240P|DNMT3B_uc002wye.2_Silent_p.P240P|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.P198P|DNMT3B_uc010zua.1_Silent_p.P164P|DNMT3B_uc002wyf.2_Silent_p.P252P|DNMT3B_uc002wyg.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	240	PWWP.|Interaction with DNMT1 and DNMT3A.				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			lung(3)|ovary(2)	5						CCTGGTGGCCCGCCATGGTGG	0.567												
C20orf185	359710	broad.mit.edu	37	20	31643231	31643231	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:31643231T>C	uc002wym.1	+	1	2	c.2T>C	c.(1-3)ATG>ACG	p.M1T		NM_182658	NP_872599	P59826	LPLC3_HUMAN	antimicrobial peptide RYA3 precursor	1					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding			ovary(4)	4						CTTATAGGCATGCAGCCAGTC	0.602												
CDK5RAP1	51654	broad.mit.edu	37	20	31980017	31980017	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:31980017A>G	uc010gek.2	-	5	599	c.475T>C	c.(475-477)TTA>CTA	p.L159L	CDK5RAP1_uc002wyy.2_Silent_p.L69L|CDK5RAP1_uc002wyz.2_Silent_p.L159L|CDK5RAP1_uc002wza.2_Silent_p.L159L|CDK5RAP1_uc010gel.2_Silent_p.L68L|CDK5RAP1_uc010gem.2_Silent_p.L159L|CDK5RAP1_uc002wzc.1_Silent_p.L159L|CDK5RAP1_uc010gen.2_Silent_p.L159L	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	159	MTTase N-terminal.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5						AGCTGATGTAAACGGTTCCAG	0.473												
E2F1	1869	broad.mit.edu	37	20	32265335	32265335	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:32265335A>G	uc002wzu.3	-	5	877	c.737T>C	c.(736-738)GTG>GCG	p.V246A		NM_005225	NP_005216	Q01094	E2F1_HUMAN	E2F transcription factor 1	246	Dimerization (Potential).|Required for interaction with TRIM28.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding				0						CTGACACGTCACGTAGGCCAG	0.567												
ITCH	83737	broad.mit.edu	37	20	33030037	33030037	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:33030037C>T	uc010geu.1	+	11	1209	c.1017C>T	c.(1015-1017)CAC>CAT	p.H339H	ITCH_uc002xak.2_Silent_p.H298H|ITCH_uc010zuj.1_Silent_p.H188H	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	339	WW 1.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						TGGACCAGCACGGGCGAGTTT	0.378												
NCOA6	23054	broad.mit.edu	37	20	33345723	33345723	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:33345723C>T	uc002xav.2	-	8	3399	c.828G>A	c.(826-828)CAG>CAA	p.Q276Q	NCOA6_uc002xaw.2_Silent_p.Q276Q|NCOA6_uc010gew.1_Silent_p.Q233Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	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						gctgttgttgctgctgctgct	0.313												
CEP250	11190	broad.mit.edu	37	20	34084485	34084485	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:34084485A>G	uc002xcm.2	+	26	3918	c.3247A>G	c.(3247-3249)AGT>GGT	p.S1083G	CEP250_uc010zve.1_Missense_Mutation_p.S451G	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1083	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACAAGAGCTGAGTGCCCTGCG	0.517												
SPAG4	6676	broad.mit.edu	37	20	34208807	34208807	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:34208807C>T	uc002xdb.1	+	12	1294	c.1177C>T	c.(1177-1179)CCA>TCA	p.P393S	SPAG4_uc010zvi.1_Missense_Mutation_p.P316S	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	393	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity				0	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GAATGACCCCCCAGCTGCCTT	0.582												
RBM12	10137	broad.mit.edu	37	20	34241803	34241803	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:34241803T>G	uc002xdq.2	-	3	1674	c.1442A>C	c.(1441-1443)GAG>GCG	p.E481A	CPNE1_uc010zvj.1_5'UTR|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.E481A|RBM12_uc002xds.2_Missense_Mutation_p.E481A	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	481	RRM 2.					nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATAGTCAGCCTCATTTCTGAA	0.373											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
PHF20	51230	broad.mit.edu	37	20	34435307	34435307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:34435307G>A	uc002xek.1	+	4	402	c.291G>A	c.(289-291)TGG>TGA	p.W97*	PHF20_uc002xei.1_Nonsense_Mutation_p.W97*|PHF20_uc010gfo.1_Nonsense_Mutation_p.W97*|PHF20_uc002xej.1_Missense_Mutation_p.G8D|PHF20_uc002xel.1_5'UTR	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					TTGCTTGCTGGTCTGATTGTC	0.388												
DLGAP4	22839	broad.mit.edu	37	20	35075283	35075283	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:35075283C>T	uc002xff.2	+	7	2026	c.1591C>T	c.(1591-1593)CAG>TAG	p.Q531*	DLGAP4_uc010zvp.1_Nonsense_Mutation_p.Q531*	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	531					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGTCTCCCTGCAGTCCCTCTC	0.602												
C20orf117	140710	broad.mit.edu	37	20	35444037	35444037	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:35444037C>T	uc002xgd.1	-	5	1421	c.1094G>A	c.(1093-1095)CGC>CAC	p.R365H	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	365											0		Myeloproliferative disorder(115;0.00874)				GAGGTCACAGCGCTGGAGGTT	0.677												
C20orf117	140710	broad.mit.edu	37	20	35467741	35467741	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:35467741G>A	uc002xgd.1	-	2	404	c.77C>T	c.(76-78)GCC>GTC	p.A26V		NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	26											0		Myeloproliferative disorder(115;0.00874)				GGTCTTGCTGGCCTGGTCCAG	0.652												
RBL1	5933	broad.mit.edu	37	20	35627182	35627182	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:35627182T>G	uc002xgi.2	-	22	3266	c.3187A>C	c.(3187-3189)AGT>CGT	p.S1063R	RBL1_uc010zvt.1_RNA	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	1063					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				GCTCTTTCACTGACAACATCC	0.403												
RBL1	5933	broad.mit.edu	37	20	35717480	35717480	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:35717480G>A	uc002xgi.2	-	2	281	c.202C>T	c.(202-204)CGC>TGC	p.R68C	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.R68C|RBL1_uc010gfv.1_RNA	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	68					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				ATGCTTTTGCGGCATGCAACA	0.383												
C20orf132	140699	broad.mit.edu	37	20	35800369	35800369	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:35800369G>T	uc010zvu.1	-	6	592	c.501C>A	c.(499-501)GCC>GCA	p.A167A	C20orf132_uc002xgm.2_Silent_p.A167A|C20orf132_uc002xgn.2_Silent_p.A167A	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	77											0		Myeloproliferative disorder(115;0.00878)				TCTCAACAATGGCCTCACTGA	0.473												
TGM2	7052	broad.mit.edu	37	20	36767984	36767984	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:36767984G>T	uc002xhr.2	-	9	1272	c.1172C>A	c.(1171-1173)CCC>CAC	p.P391H	TGM2_uc010zvx.1_Missense_Mutation_p.P310H|TGM2_uc010zvy.1_Missense_Mutation_p.P331H|TGM2_uc002xhs.1_Missense_Mutation_p.P367H|TGM2_uc002xht.2_Missense_Mutation_p.P391H	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	391					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)	AAAGACAAAGGGCGCATCGTA	0.577												
ACTR5	79913	broad.mit.edu	37	20	37378728	37378728	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:37378728C>T	uc002xjd.2	+	2	476	c.451C>T	c.(451-453)CTT>TTT	p.L151F		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	151					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)				GATGTCTGAGCTTCTTTTTGA	0.453												
PLCG1	5335	broad.mit.edu	37	20	39791294	39791294	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:39791294C>T	uc002xjp.1	+	6	731	c.610C>T	c.(610-612)CGC>TGC	p.R204C	PLCG1_uc002xjo.1_Missense_Mutation_p.R204C|PLCG1_uc010zwe.1_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	204					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)				CCTGGAGCAGCGCAGCGGGGA	0.627												
LPIN3	64900	broad.mit.edu	37	20	39987432	39987432	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:39987432G>A	uc002xjx.2	+	20	2573	c.2482G>A	c.(2482-2484)GCC>ACC	p.A828T	LPIN3_uc010ggh.2_Missense_Mutation_p.A829T|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	828					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				CACAGACCTGGCCAACCCTGA	0.627												
L3MBTL	26013	broad.mit.edu	37	20	42159475	42159476	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:42159475_42159476GC>AA	uc010zwh.1	+	11	1210_1211	c.1164_1165GC>AA	c.(1162-1167)CTGCGC>CTAAGC	p.R389S	L3MBTL_uc002xkl.2_Missense_Mutation_p.R321S|L3MBTL_uc002xkm.2_Missense_Mutation_p.R321S|L3MBTL_uc010ggl.2_Missense_Mutation_p.R321S|L3MBTL_uc002xkn.1_Missense_Mutation_p.R80S|L3MBTL_uc002xko.2_5'Flank	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	321	MBT 2.			LR -> MC (in Ref. 1; AAC69438).	chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCCAGTACCTGCGCAGCACAAG	0.624												
MYBL2	4605	broad.mit.edu	37	20	42311496	42311496	+	Missense_Mutation	SNP	G	G	T	rs67565959		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:42311496G>T	uc002xlb.1	+	4	464	c.249G>T	c.(247-249)AAG>AAT	p.K83N	MYBL2_uc010zwj.1_Missense_Mutation_p.K59N|MYBL2_uc002xla.1_Missense_Mutation_p.K83N	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	83	HTH myb-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCTTGTCAAGGGGCCATGGA	0.502												
MYBL2	4605	broad.mit.edu	37	20	42315578	42315578	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:42315578T>C	uc002xlb.1	+	5	581	c.366T>C	c.(364-366)CGT>CGC	p.R122R	MYBL2_uc010zwj.1_Silent_p.R98R|MYBL2_uc002xla.1_Silent_p.R122R	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	122	H-T-H motif (By similarity).|HTH myb-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGCAGTGCCGTGAACGCTGGC	0.572												
MYBL2	4605	broad.mit.edu	37	20	42320926	42320926	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:42320926C>T	uc002xlb.1	+	6	845	c.630C>T	c.(628-630)GAC>GAT	p.D210D	MYBL2_uc010zwj.1_Silent_p.D186D|MYBL2_uc002xla.1_Silent_p.D210D	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	210						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGGACAAGGACGGCCTCCAGA	0.542												
WFDC5	149708	broad.mit.edu	37	20	43739149	43739149	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:43739149G>A	uc002xne.1	-	3	338	c.259C>T	c.(259-261)CGC>TGC	p.R87C		NM_145652	NP_663627	Q8TCV5	WFDC5_HUMAN	WAP four-disulfide core domain 5 precursor	87	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CTGAGGCAGCGCAGTTGGTCC	0.632												
PI3	5266	broad.mit.edu	37	20	43804672	43804672	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:43804672G>A	uc002xng.2	+	2	274	c.250G>A	c.(250-252)GCC>ACC	p.A84T		NM_002638	NP_002629	P19957	ELAF_HUMAN	elafin preproprotein	84	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				GATCCGGTGCGCCATGTTGAA	0.512												
WFDC10A	140832	broad.mit.edu	37	20	44258522	44258522	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:44258522C>T	uc002xoz.2	+	1	138	c.70C>T	c.(70-72)CGT>TGT	p.R24C	WFDC9_uc002xoy.2_Intron	NM_080753	NP_542791	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A precursor	24						extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)				GGGAGGATACCGTGACAAGAA	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZSWIM1	90204	broad.mit.edu	37	20	44511611	44511611	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:44511611A>G	uc010ghi.2	+	2	493	c.380A>G	c.(379-381)CAG>CGG	p.Q127R	ZSWIM1_uc010zxh.1_5'UTR	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	127							zinc ion binding			skin(1)	1		Myeloproliferative disorder(115;0.028)				GGCCTGGCCCAGATGTTCCAA	0.537												
ZNF335	63925	broad.mit.edu	37	20	44596969	44596969	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:44596969C>A	uc002xqw.2	-	4	598	c.475G>T	c.(475-477)GGG>TGG	p.G159W	ZNF335_uc010zxk.1_Intron|ZNF335_uc002xqx.1_Missense_Mutation_p.G127W|ZNF335_uc002xqy.2_5'UTR	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GTCTCGGCCCCGCCATCCTCA	0.647												
CDH22	64405	broad.mit.edu	37	20	44839080	44839080	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:44839080G>A	uc002xrm.2	-	6	1553	c.1152C>T	c.(1150-1152)GCC>GCT	p.A384A	CDH22_uc010ghk.1_Silent_p.A384A|CDH22_uc002xrn.1_Silent_p.A135A	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	384	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CGTCGGTCACGGCCACGCGCA	0.721												
CDH22	64405	broad.mit.edu	37	20	44879758	44879758	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:44879758C>T	uc002xrm.2	-	1	577	c.176G>A	c.(175-177)CGC>CAC	p.R59H	CDH22_uc010ghk.1_Missense_Mutation_p.R59H	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	59	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GCGTTTGACGCGGCCGGCTCC	0.622												
SLC13A3	64849	broad.mit.edu	37	20	45239100	45239100	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:45239100T>G	uc002xsf.1	-	3	564	c.526A>C	c.(526-528)AGT>CGT	p.S176R	SLC13A3_uc010ghn.1_Missense_Mutation_p.S145R|SLC13A3_uc010zxw.1_Missense_Mutation_p.S176R|SLC13A3_uc002xsg.1_Missense_Mutation_p.S129R|SLC13A3_uc010gho.1_Missense_Mutation_p.S129R|SLC13A3_uc010zxx.1_Missense_Mutation_p.S78R|SLC13A3_uc002xsi.3_Missense_Mutation_p.S129R	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	176	Cytoplasmic (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TTCTCTTCACTCTCCTGGCTG	0.537												
NCOA3	8202	broad.mit.edu	37	20	46265203	46265203	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:46265203T>C	uc002xtk.2	+	12	2278	c.2073T>C	c.(2071-2073)AAT>AAC	p.N691N	NCOA3_uc010ght.1_Silent_p.N701N|NCOA3_uc002xtl.2_Silent_p.N691N|NCOA3_uc002xtm.2_Silent_p.N691N|NCOA3_uc002xtn.2_Silent_p.N691N|NCOA3_uc010zyc.1_Silent_p.N486N	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	691					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						TGCTGCAGAATGGGAATTCAC	0.483												
FAM65C	140876	broad.mit.edu	37	20	49209604	49209604	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:49209604A>G	uc002xvm.2	-	18	2648	c.2330T>C	c.(2329-2331)CTG>CCG	p.L777P	FAM65C_uc010zyt.1_Missense_Mutation_p.L781P|FAM65C_uc010zyu.1_RNA	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	777										ovary(2)	2						GTGCTTCTCCAGGTCAGAGAC	0.567												
SALL4	57167	broad.mit.edu	37	20	50407921	50407921	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:50407921G>A	uc002xwh.3	-	2	1202	c.1101C>T	c.(1099-1101)TCC>TCT	p.S367S	SALL4_uc010gii.2_Silent_p.S367S|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	367					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CATCCACCGCGGAGATGTTCG	0.562												
MC3R	4159	broad.mit.edu	37	20	54824308	54824308	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:54824308G>A	uc002xxb.2	+	1	521	c.409G>A	c.(409-411)GCC>ACC	p.A137T		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	174	Helical; Name=3; (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)			CAACCTCCTGGCCATCGCCGT	0.567												
MC3R	4159	broad.mit.edu	37	20	54824600	54824600	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:54824600A>G	uc002xxb.2	+	1	813	c.701A>G	c.(700-702)CAA>CGA	p.Q234R		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	271	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)|breast(2)	4			Colorectal(105;0.202)			GCCCCACAGCAACACTCATGC	0.607												
CSTF1	1477	broad.mit.edu	37	20	54978601	54978601	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:54978601G>A	uc002xxl.1	+	6	1314	c.1114G>A	c.(1114-1116)GAC>AAC	p.D372N	CSTF1_uc002xxm.1_Missense_Mutation_p.D372N|CSTF1_uc002xxn.1_Missense_Mutation_p.D372N|CSTF1_uc002xxo.1_Missense_Mutation_p.D315N	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	372					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1			Colorectal(105;0.202)			GTTGCTGCCCGACGAGAGGAC	0.572												
APCDD1L	164284	broad.mit.edu	37	20	57042694	57042694	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:57042694G>T	uc002xze.1	-	3	395	c.209C>A	c.(208-210)CCG>CAG	p.P70Q	APCDD1L_uc010zzp.1_Missense_Mutation_p.P81Q	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	70						integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CAGGAACTCCGGTCCTGGGCG	0.682												
GNAS	2778	broad.mit.edu	37	20	57429596	57429596	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:57429596G>A	uc002xzw.2	+	1	1561	c.1276G>A	c.(1276-1278)GCA>ACA	p.A426T	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)			CGGGGCATTCGCAGCCGATCC	0.751			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
ZNF831	128611	broad.mit.edu	37	20	57768027	57768027	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:57768027C>T	uc002yan.2	+	1	1953	c.1953C>T	c.(1951-1953)GGC>GGT	p.G651G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	651						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					TGGGAATGGGCAGTGGGGCAG	0.562												
ZNF831	128611	broad.mit.edu	37	20	57829279	57829279	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:57829279C>A	uc002yan.2	+	5	4515	c.4515C>A	c.(4513-4515)GCC>GCA	p.A1505A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1505						intracellular	nucleic acid binding|zinc ion binding	p.A1505V(1)		skin(13)|ovary(1)	14	all_lung(29;0.0085)					ATCACATAGCCCAGGAAATTC	0.512												
PPP1R3D	5509	broad.mit.edu	37	20	58514123	58514123	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:58514123G>A	uc002ybb.2	-	1	1230	c.864C>T	c.(862-864)CGC>CGT	p.R288R	C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	288					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity				0	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CGCACTCCCCGCGAGGCATGT	0.642												
CDH26	60437	broad.mit.edu	37	20	58564020	58564020	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:58564020G>T	uc002ybe.2	+	9	1385	c.1085G>T	c.(1084-1086)AGG>ATG	p.R362M	CDH26_uc002ybf.1_Translation_Start_Site|CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	362	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AATGAGGAGAGGCTCGTCTTC	0.572												
CDH4	1002	broad.mit.edu	37	20	60499482	60499482	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:60499482C>T	uc002ybn.1	+	11	1733	c.1719C>T	c.(1717-1719)TCC>TCT	p.S573S	CDH4_uc002ybp.1_Silent_p.S499S	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	573	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCGTGAGTCCCTCTACACCA	0.622												
SLCO4A1	28231	broad.mit.edu	37	20	61299422	61299422	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:61299422C>T	uc002ydb.1	+	9	1902	c.1697C>T	c.(1696-1698)ACT>ATT	p.T566I	SLCO4A1_uc002ydc.1_Intron|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Intron	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	566	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GGCCATGCCACTGCAGGGAAA	0.473											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OGFR	11054	broad.mit.edu	37	20	61444531	61444531	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:61444531C>A	uc002ydj.2	+	7	1599	c.1564C>A	c.(1564-1566)CCA>ACA	p.P522T	OGFR_uc002ydk.2_Missense_Mutation_p.P505T|OGFR_uc002ydl.2_Missense_Mutation_p.P470T|uc011aam.1_Missense_Mutation_p.G38W	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	522	1.|7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					ATCGGAGACCCCAGGCCCCAG	0.697												
DIDO1	11083	broad.mit.edu	37	20	61512878	61512878	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:61512878T>G	uc002ydr.1	-	16	4694	c.4430A>C	c.(4429-4431)AAG>ACG	p.K1477T	DIDO1_uc002yds.1_Missense_Mutation_p.K1477T	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1477					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					TTCTAGCATCTTCTGTTGCTC	0.627												
SLC17A9	63910	broad.mit.edu	37	20	61595602	61595602	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:61595602C>A	uc002yea.3	+	8	1029	c.845C>A	c.(844-846)CCT>CAT	p.P282H	SLC17A9_uc002ydz.3_Missense_Mutation_p.P276H|SLC17A9_uc011aap.1_Missense_Mutation_p.P302H	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	282	Helical; (Potential).				exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2						AACGTGGTTCCTTGGTTGGTG	0.607												
COL20A1	57642	broad.mit.edu	37	20	61958164	61958164	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:61958164G>A	uc011aau.1	+	31	3617	c.3517G>A	c.(3517-3519)GTG>ATG	p.V1173M	COL20A1_uc011aav.1_Missense_Mutation_p.V994M	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1173	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					TCCAGGGACCGTGGGGCCCAC	0.622												
PPDPF	79144	broad.mit.edu	37	20	62153073	62153073	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:62153073G>A	uc002yff.2	+	4	326	c.186G>A	c.(184-186)AAG>AAA	p.K62K		NM_024299	NP_077275	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and	62					cell differentiation|multicellular organismal development						0						TTTTCGGGAAGTCCACCCTCC	0.642												
ZBTB46	140685	broad.mit.edu	37	20	62421703	62421703	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:62421703G>A	uc002ygv.1	-	2	609	c.408C>T	c.(406-408)GAC>GAT	p.D136D	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CATCTGAGGCGTCCGACTTGA	0.617												
DNAJC5	80331	broad.mit.edu	37	20	62560749	62560749	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:62560749C>T	uc002yhf.2	+	3	362	c.192C>T	c.(190-192)CAC>CAT	p.H64H	DNAJC5_uc002yhg.1_Silent_p.H64H|DNAJC5_uc002yhh.2_RNA	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	64	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			pancreas(1)	1	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACAACGCGCACGCCATCCTCA	0.547												
PRPF6	24148	broad.mit.edu	37	20	62631096	62631096	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:62631096C>T	uc002yho.2	+	8	1175	c.1007C>T	c.(1006-1008)ACG>ATG	p.T336M	PRPF6_uc002yhp.2_Missense_Mutation_p.T336M	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	336					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATGAAGGGGACGGAGATGTGC	0.552												
OPRL1	4987	broad.mit.edu	37	20	62729757	62729757	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:62729757C>T	uc002yic.2	+	5	1120	c.718C>T	c.(718-720)CGG>TGG	p.R240W	OPRL1_uc002yid.2_Missense_Mutation_p.R240W|OPRL1_uc002yif.3_Missense_Mutation_p.R235W	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	240	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CCTCATGATCCGGCGGCTCCG	0.622												
PCMTD2	55251	broad.mit.edu	37	20	62891437	62891437	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:62891437A>G	uc002yil.3	+	2	319	c.119A>G	c.(118-120)GAC>GGC	p.D40G	PCMTD2_uc002yim.3_Missense_Mutation_p.D40G	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate)	40						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GATCGTGCAGACTATTATCTT	0.433												
BAGE2	85319	broad.mit.edu	37	21	11097627	11097627	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:11097627G>A	uc002yit.1	-	2	243	c.35C>T	c.(34-36)GCC>GTC	p.A12V	BAGE_uc002yix.2_RNA	NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gagcagctgggcagacaatgc	0.259												
TMPRSS15	5651	broad.mit.edu	37	21	19653414	19653414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:19653414G>A	uc002ykw.2	-	22	2642	c.2611C>T	c.(2611-2613)CGA>TGA	p.R871*		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	871	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						TCCTTTCTTCGCCTATTGTAA	0.368												
USP16	10600	broad.mit.edu	37	21	30419571	30419571	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:30419571G>A	uc002ymy.2	+	14	2142	c.1940G>A	c.(1939-1941)CGA>CAA	p.R647Q	USP16_uc002ymx.2_Missense_Mutation_p.R646Q|USP16_uc002ymw.2_Missense_Mutation_p.R647Q|USP16_uc011acm.1_Missense_Mutation_p.R632Q|USP16_uc011acn.1_Missense_Mutation_p.R313Q|USP16_uc011aco.1_Missense_Mutation_p.R337Q	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	647					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(2)|breast(1)|pancreas(1)	4						GAGAAACTTCGAGATGCGAAT	0.368												
KRTAP22-1	337979	broad.mit.edu	37	21	31973469	31973469	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:31973469C>T	uc011add.1	+	1	30	c.30C>T	c.(28-30)GGC>GGT	p.G10G	KRTAP6-2_uc011adc.1_5'Flank	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	10						intermediate filament					0						ACCATGGTGGCCAGGGCTATG	0.438												
MORC3	23515	broad.mit.edu	37	21	37741774	37741774	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:37741774T>C	uc002yvi.2	+	15	2184	c.2108T>C	c.(2107-2109)CTA>CCA	p.L703P		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	703	Potential.				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						AGAAACCAGCTACTCCTTGTC	0.388												
SIM2	6493	broad.mit.edu	37	21	38114120	38114120	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:38114120G>A	uc002yvr.2	+	8	1009	c.953G>A	c.(952-954)CGC>CAC	p.R318H	SIM2_uc002yvq.2_Missense_Mutation_p.R318H	NM_005069	NP_005060	Q14190	SIM2_HUMAN	single-minded homolog 2 long isoform	318	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1						CACAACAGCCGCTCGTCCCGG	0.483												
BRWD1	54014	broad.mit.edu	37	21	40670383	40670383	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:40670383C>T	uc002yxk.1	-	5	463	c.324G>A	c.(322-324)AGG>AGA	p.R108R	BRWD1_uc002yxl.2_Silent_p.R108R|BRWD1_uc002yxm.2_Silent_p.R108R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	108					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)				GCAAAGACTGCCTTCCTGCAC	0.373												
B3GALT5	10317	broad.mit.edu	37	21	41032852	41032852	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:41032852G>A	uc002yyb.1	+	5	958	c.366G>A	c.(364-366)AAG>AAA	p.K122K	B3GALT5_uc002yye.2_Silent_p.K122K|B3GALT5_uc002yyi.1_Silent_p.K122K|B3GALT5_uc002yyj.1_Silent_p.K122K|B3GALT5_uc002yyk.1_Silent_p.K122K|B3GALT5_uc002yyl.1_Silent_p.K122K|B3GALT5_uc002yym.1_Silent_p.K122K	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta	122	Lumenal (Potential).				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			skin(1)	1		Prostate(19;2.55e-06)				TTATCCAGAAGGATTTCCTAG	0.522												
IGSF5	150084	broad.mit.edu	37	21	41137483	41137483	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:41137483T>C	uc002yyo.2	+	3	225	c.122T>C	c.(121-123)GTC>GCC	p.V41A		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	41	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)				GGTAATGAAGTCATAGAAGGC	0.478												
DSCAM	1826	broad.mit.edu	37	21	41516473	41516473	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:41516473G>A	uc002yyq.1	-	17	3656	c.3204C>T	c.(3202-3204)AAC>AAT	p.N1068N	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1068	Fibronectin type-III 2.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCCGGCCCGGTTACAGGCCT	0.582												
BACE2	25825	broad.mit.edu	37	21	42615331	42615331	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:42615331A>G	uc002yyw.2	+	5	1239	c.776A>G	c.(775-777)TAT>TGT	p.Y259C	BACE2_uc002yyx.2_Missense_Mutation_p.Y259C|BACE2_uc002yyy.2_Missense_Mutation_p.Y259C|BACE2_uc010goo.2_5'Flank	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	259	Extracellular (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CCAAGTTTGTATAAAGGAGAC	0.393												
C2CD2	25966	broad.mit.edu	37	21	43325851	43325851	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:43325851G>T	uc002yzw.2	-	11	1656	c.1414C>A	c.(1414-1416)CTC>ATC	p.L472I	C2CD2_uc002yzt.2_Missense_Mutation_p.L88I|C2CD2_uc002yzu.2_Missense_Mutation_p.L304I|C2CD2_uc002yzv.2_Missense_Mutation_p.L317I|C2CD2_uc002yzx.1_Missense_Mutation_p.L317I	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	472						cytosol|extracellular region|nucleus				ovary(1)	1						GAAGAAGAGAGTGTTTTGCTG	0.537												
TRAPPC10	7109	broad.mit.edu	37	21	45507599	45507599	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:45507599G>A	uc002zea.2	+	17	2728	c.2559G>A	c.(2557-2559)GCG>GCA	p.A853A	TRAPPC10_uc010gpo.2_Silent_p.A564A|TRAPPC10_uc011afa.1_Intron|TRAPPC10_uc011afb.1_5'Flank	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	853					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						CTGAGGCCGCGCTCCGGATTC	0.512												
TRPM2	7226	broad.mit.edu	37	21	45821688	45821688	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:45821688G>A	uc002zet.1	+	17	2659	c.2446G>A	c.(2446-2448)GTG>ATG	p.V816M	TRPM2_uc002zeu.1_Missense_Mutation_p.V816M|TRPM2_uc002zew.1_Missense_Mutation_p.V816M|TRPM2_uc010gpt.1_Missense_Mutation_p.V816M|TRPM2_uc002zex.1_Missense_Mutation_p.V602M|TRPM2_uc002zey.1_Missense_Mutation_p.V329M	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	816	Helical; (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTTCGCCTACGTGCTCATGGT	0.637												
KRTAP10-4	386672	broad.mit.edu	37	21	45994758	45994758	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:45994758G>A	uc002zfk.1	+	1	1153	c.1123G>A	c.(1123-1125)GTG>ATG	p.V375M	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	keratin associated protein 10-4	375	36 X 5 AA repeats of C-C-X(3).|35.					keratin filament					0						CGCCTGCTGCGTGCCCGTCCC	0.701												
ADARB1	104	broad.mit.edu	37	21	46640907	46640907	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:46640907G>A	uc002zgy.2	+	11	2459	c.2024G>A	c.(2023-2025)CGC>CAC	p.R675H	ADARB1_uc002zgr.2_Missense_Mutation_p.R675H|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.R635H|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.R635H|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	675	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		TTGTACTGTCGCTGGATGCGT	0.612												
SLC19A1	6573	broad.mit.edu	37	21	46945824	46945824	+	Silent	SNP	G	G	A	rs149270420	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:46945824G>A	uc002zhl.1	-	5	1319	c.1200C>T	c.(1198-1200)TTC>TTT	p.F400F	SLC19A1_uc010gpy.1_Silent_p.F400F|SLC19A1_uc011aft.1_Silent_p.F360F|SLC19A1_uc002zhm.1_Silent_p.F400F|SLC19A1_uc010gpz.1_Silent_p.F279F	NM_194255	NP_919231	P41440	S19A1_HUMAN	solute carrier family 19 member 1	400	Helical; (Probable).				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity				0				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		TGTTGACCCCGAAGACCAGGG	0.577												
COL6A2	1292	broad.mit.edu	37	21	47533969	47533969	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:47533969G>T	uc002zia.1	+	5	865	c.783G>T	c.(781-783)AAG>AAT	p.K261N	COL6A2_uc002zhy.1_Missense_Mutation_p.K261N|COL6A2_uc002zhz.1_Missense_Mutation_p.K261N|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	261	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGCCCCAAGGGCTACCGTG	0.517												
LSS	4047	broad.mit.edu	37	21	47647501	47647501	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:47647501G>A	uc002zij.2	-	3	363	c.284C>T	c.(283-285)ACG>ATG	p.T95M	LSS_uc011afv.1_Missense_Mutation_p.T95M|LSS_uc002zil.2_Missense_Mutation_p.T95M|LSS_uc002zik.2_Missense_Mutation_p.T15M|MCM3APAS_uc002zim.2_5'Flank|MCM3APAS_uc002zin.2_5'Flank	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	95					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					ATAATCACCCGTCCAGTGCCC	0.577												
PCNT	5116	broad.mit.edu	37	21	47808673	47808673	+	Missense_Mutation	SNP	G	G	A	rs150279909	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:47808673G>A	uc002zji.3	+	18	3588	c.3481G>A	c.(3481-3483)GCC>ACC	p.A1161T	PCNT_uc002zjj.2_Missense_Mutation_p.A1043T	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1161					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CCTCCAGGACGCCCTGCGCAG	0.672												
PCNT	5116	broad.mit.edu	37	21	47863742	47863742	+	Silent	SNP	G	G	A	rs141991283	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:47863742G>A	uc002zji.3	+	45	9827	c.9720G>A	c.(9718-9720)CCG>CCA	p.P3240P	PCNT_uc002zjj.2_Silent_p.P3043P	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	3240	Interaction with NEK2.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CACGACAGCCGCAGTCTCCAC	0.547												
PRMT2	3275	broad.mit.edu	37	21	48081770	48081770	+	Missense_Mutation	SNP	C	C	T	rs149476373		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:48081770C>T	uc002zjx.2	+	10	1333	c.1019C>T	c.(1018-1020)ACG>ATG	p.T340M	PRMT2_uc002zjy.2_Missense_Mutation_p.T340M|PRMT2_uc010gqm.2_Missense_Mutation_p.T238M|PRMT2_uc011aga.1_Intron|PRMT2_uc011agb.1_Intron|PRMT2_uc011agc.1_Intron|PRMT2_uc002zjz.1_3'UTR	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	340					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)		CACGGCTTCACGGCCTGGTTT	0.632												
CECR6	27439	broad.mit.edu	37	22	17600853	17600853	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:17600853G>A	uc002zmb.2	-	1	1361	c.1165C>T	c.(1165-1167)CGG>TGG	p.R389W	CECR6_uc002zma.2_Missense_Mutation_p.R34W|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	389											0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GCGCGGTGCCGCTGGGGCTGC	0.731												
TUBA8	51807	broad.mit.edu	37	22	18604278	18604278	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:18604278G>A	uc002znv.1	+	2	109	c.36G>A	c.(34-36)GCG>GCA	p.A12A	TUBA8_uc002znr.2_5'UTR|TUBA8_uc002znw.1_Silent_p.A36A|TUBA8_uc002znu.1_Silent_p.A12A	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	12					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0						TGGGCCAAGCGGGAGTTCAGA	0.582												
CLTCL1	8218	broad.mit.edu	37	22	19211489	19211489	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:19211489C>T	uc002zpb.2	-	14	2292	c.2217G>A	c.(2215-2217)GGG>GGA	p.G739G	CLTCL1_uc011agv.1_Silent_p.G739G|CLTCL1_uc011agw.1_Silent_p.G739G	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	739	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					CCTTGATCTGCCCTGTCTTAC	0.522			T	?	ALCL							
DGCR8	54487	broad.mit.edu	37	22	20096520	20096520	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:20096520G>T	uc002zri.2	+	13	2582	c.2232G>T	c.(2230-2232)GAG>GAT	p.E744D	DGCR8_uc010grz.2_Missense_Mutation_p.E711D|DGCR8_uc002zrj.2_Missense_Mutation_p.E387D	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	744	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					GGCTAGCTGAGGAAAGGGTGA	0.607												
PI4KA	5297	broad.mit.edu	37	22	21101908	21101908	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:21101908T>C	uc002zsz.3	-	29	3383	c.3152A>G	c.(3151-3153)CAC>CGC	p.H1051R		NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1051					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCCAGCAAAGTGAAGGATGCT	0.517												
CRKL	1399	broad.mit.edu	37	22	21272475	21272475	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:21272475C>T	uc002ztf.2	+	1	762	c.253C>T	c.(253-255)CTG>TTG	p.L85L	CRKL_uc002ztg.1_RNA	NM_005207	NP_005198	P46109	CRKL_HUMAN	v-crk sarcoma virus CT10 oncogene homolog	85	SH2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity				0	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GCCGGCCCTGCTGGAGTTTTA	0.602												
P2RX6	9127	broad.mit.edu	37	22	21377608	21377608	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:21377608G>A	uc010gsu.1	+	7	683	c.683G>A	c.(682-684)TGC>TAC	p.C228Y	P2RX6_uc002ztz.2_Missense_Mutation_p.C202Y|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	NM_005446	NP_005437	O15547	P2RX6_HUMAN	purinergic receptor P2X6 isoform 1	228	Extracellular (Potential).				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0						TTTAAGCACTGCCGCTATGAA	0.597												
HIC2	23119	broad.mit.edu	37	22	21800745	21800745	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:21800745C>T	uc002zur.3	+	3	1791	c.1561C>T	c.(1561-1563)CGG>TGG	p.R521W	HIC2_uc002zus.3_Missense_Mutation_p.R521W	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	521	C2H2-type 2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				AGCCACGCTGCGGCAGCACGA	0.642												
BCR	613	broad.mit.edu	37	22	23523868	23523868	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:23523868G>A	uc002zww.2	+	1	1317	c.721G>A	c.(721-723)GGC>AGC	p.G241S	BCR_uc002zwx.2_Missense_Mutation_p.G241S	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	241	Kinase.|Binding to ABL SH2-domain.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						GAGCAGCTGCGGCGTCGACGG	0.677			T	ABL1| FGFR1|JAK2 	CML|ALL|AML							
CABIN1	23523	broad.mit.edu	37	22	24480975	24480975	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:24480975A>G	uc002zzi.1	+	22	3261	c.3134A>G	c.(3133-3135)GAG>GGG	p.E1045G	CABIN1_uc002zzj.1_Missense_Mutation_p.E995G|CABIN1_uc002zzl.1_Missense_Mutation_p.E1045G	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1045					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						TGCCTCCCAGAGGGGGCTGAC	0.527												
SGSM1	129049	broad.mit.edu	37	22	25270530	25270530	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:25270530G>A	uc003abg.2	+	13	1597	c.1440G>A	c.(1438-1440)CCG>CCA	p.P480P	SGSM1_uc003abh.2_Silent_p.P480P|SGSM1_uc010guu.1_Intron|SGSM1_uc003abj.2_Intron|SGSM1_uc003abi.1_Intron	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	480						Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						CGCCAAGCCCGAAGGAGCAGC	0.632												
MN1	4330	broad.mit.edu	37	22	28194198	28194198	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:28194198G>A	uc003adj.2	-	1	3289	c.2334C>T	c.(2332-2334)GGC>GGT	p.G778G		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	778							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						CGCCACCGCCGCCACCAGAGC	0.716			T	ETV6	AML|meningioma							
ZMAT5	55954	broad.mit.edu	37	22	30134378	30134378	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:30134378G>A	uc003agm.2	-	6	575	c.324C>T	c.(322-324)GGC>GGT	p.G108G	ZMAT5_uc003agn.2_Silent_p.G108G	NM_019103	NP_061976	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin type 5	108					mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CCTCCAGATGGCCCTCGGGGA	0.647												
CCDC157	550631	broad.mit.edu	37	22	30769736	30769736	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:30769736C>A	uc011aku.1	+	8	2146	c.1486C>A	c.(1486-1488)CAG>AAG	p.Q496K	CCDC157_uc011akv.1_Missense_Mutation_p.Q496K	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	coiled-coil domain containing 157	496	Potential.									central_nervous_system(1)	1						GGGGCAATGCCAGCTCAGGGC	0.667												
GAL3ST1	9514	broad.mit.edu	37	22	30951876	30951876	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:30951876G>A	uc003aig.1	-	4	476	c.336C>T	c.(334-336)CGC>CGT	p.R112R	GAL3ST1_uc003aih.1_Silent_p.R112R|GAL3ST1_uc003aii.1_Silent_p.R112R|GAL3ST1_uc010gvz.1_Silent_p.R112R	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	112	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						CGAAGTCATTGCGGCCGTTAG	0.597												
DEPDC5	9681	broad.mit.edu	37	22	32269303	32269303	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:32269303C>T	uc003als.2	+	34	3597	c.3455C>T	c.(3454-3456)GCC>GTC	p.A1152V	DEPDC5_uc011als.1_Missense_Mutation_p.A1083V|DEPDC5_uc011alu.1_Missense_Mutation_p.A1183V|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.A1174V|DEPDC5_uc003alu.2_Missense_Mutation_p.A601V|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_3'UTR|DEPDC5_uc003alw.2_Missense_Mutation_p.A450V|DEPDC5_uc011alx.1_5'UTR|DEPDC5_uc010gwk.2_Missense_Mutation_p.A178V|DEPDC5_uc011aly.1_5'UTR	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1152					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						ATCCTGGAAGCCATGAAGCAC	0.542												
SLC5A1	6523	broad.mit.edu	37	22	32495184	32495184	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:32495184T>C	uc003amc.2	+	12	1527	c.1295T>C	c.(1294-1296)GTG>GCG	p.V432A	SLC5A1_uc011alz.1_Missense_Mutation_p.V305A	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	432	Helical; (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						TTTATCCTGGTGCTGATTGGC	0.393												
MYH9	4627	broad.mit.edu	37	22	36681702	36681702	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:36681702A>G	uc003apg.2	-	37	5505	c.5274_splice	c.e37+1	p.Q1758_splice		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle						actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CCTGGCACCCACCTGCAGGTT	0.577			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
MYH9	4627	broad.mit.edu	37	22	36708245	36708245	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:36708245G>A	uc003apg.2	-	14	1808	c.1577C>T	c.(1576-1578)GCC>GTC	p.A526V	MYH9_uc003aph.1_Missense_Mutation_p.A390V	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	526	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GTCCAGCAGGGCCAGAATGCC	0.647			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
MYH9	4627	broad.mit.edu	37	22	36714268	36714268	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:36714268G>A	uc003apg.2	-	11	1442	c.1211C>T	c.(1210-1212)GCG>GTG	p.A404V	MYH9_uc003aph.1_Missense_Mutation_p.A268V	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	404	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TTTAGTCTGCGCCTTCTGGAC	0.582			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
TRIOBP	11078	broad.mit.edu	37	22	38154010	38154010	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:38154010C>T	uc003atr.2	+	16	6349	c.6078C>T	c.(6076-6078)ATC>ATT	p.I2026I	TRIOBP_uc003atu.2_Silent_p.I1854I|TRIOBP_uc003atv.2_Silent_p.I313I|TRIOBP_uc003atw.2_Silent_p.I313I|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.2_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2026					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)					GTGAGGAGATCGAGAAGAAGT	0.672												
C22orf23	84645	broad.mit.edu	37	22	38341135	38341135	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:38341135G>A	uc003auj.1	-	5	486	c.395C>T	c.(394-396)ACA>ATA	p.T132I	C22orf23_uc003auk.1_Missense_Mutation_p.T132M	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	hypothetical protein LOC84645	132											0	Melanoma(58;0.045)					GTCCTTCCCTGTGGCAAAGAT	0.502												
PLA2G6	8398	broad.mit.edu	37	22	38512189	38512189	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:38512189C>T	uc003auy.1	-	13	1908	c.1772G>A	c.(1771-1773)CGG>CAG	p.R591Q	PLA2G6_uc003auz.1_Missense_Mutation_p.R537Q|PLA2G6_uc003ava.1_Missense_Mutation_p.R591Q|PLA2G6_uc003avb.2_Missense_Mutation_p.R537Q|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc003aux.1_5'Flank	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	591					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	AGCCGGCTGCCGGTCAGACAG	0.587												
KCNJ4	3761	broad.mit.edu	37	22	38823565	38823565	+	Silent	SNP	C	C	T	rs150693544		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:38823565C>T	uc003avs.1	-	2	670	c.573G>A	c.(571-573)GCG>GCA	p.A191A	KCNJ4_uc003avt.1_Silent_p.A191A	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	191	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)					CCGAAATGACCGCGTGGTGGC	0.637												
CBX6	23466	broad.mit.edu	37	22	39263009	39263009	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:39263009C>T	uc003awl.2	-	5	507	c.444G>A	c.(442-444)CCG>CCA	p.P148P		NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	148					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex					0	Melanoma(58;0.04)					GCGAAATGGGCGGGCGCAGTC	0.692												
MGAT3	4248	broad.mit.edu	37	22	39883971	39883971	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:39883971C>A	uc003axv.3	+	2	858	c.619C>A	c.(619-621)CGC>AGC	p.R207S	MGAT3_uc010gxy.2_Missense_Mutation_p.R207S	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	207	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					GGTGCCGCGCCGCGTCATCAA	0.677												
TNRC6B	23112	broad.mit.edu	37	22	40660971	40660971	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:40660971A>G	uc011aor.1	+	5	948	c.737A>G	c.(736-738)CAG>CGG	p.Q246R	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.Q246R|TNRC6B_uc003ayo.2_Missense_Mutation_p.Q50R	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	246					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						AGCCAGTGCCAGTCTGCAAGT	0.473												
ST13	6767	broad.mit.edu	37	22	41222549	41222549	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:41222549T>C	uc003aze.2	-	12	1246	c.1103A>G	c.(1102-1104)CAA>CGA	p.Q368R	ST13_uc011aow.1_Missense_Mutation_p.Q358R	NM_003932	NP_003923	P50502	F10A1_HUMAN	heat shock 70kD protein binding protein	368							protein binding, bridging				0						ACATTACGCTTGACCTCCAAA	0.418												
RANGAP1	5905	broad.mit.edu	37	22	41650405	41650405	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:41650405T>C	uc003azs.2	-	10	2637	c.1167A>G	c.(1165-1167)GAA>GAG	p.E389E	RANGAP1_uc003azt.2_Silent_p.E389E|RANGAP1_uc003azu.2_Silent_p.E389E|RANGAP1_uc003azr.2_5'Flank|RANGAP1_uc010gyk.2_5'Flank|RANGAP1_uc011aoz.1_Silent_p.E334E	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	389	Asp/Glu-rich (highly acidic).|Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						cctcctcctcttcttcctcct	0.264												
ACO2	50	broad.mit.edu	37	22	41920923	41920923	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:41920923G>A	uc003bac.2	+	13	1578	c.1556G>A	c.(1555-1557)GGC>GAC	p.G519D	ACO2_uc003bad.2_Missense_Mutation_p.G544D	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	519					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						GGCACGGATGGCAAGAAGTTC	0.597												
ACO2	50	broad.mit.edu	37	22	41923953	41923953	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:41923953C>T	uc003bac.2	+	17	2157	c.2135C>T	c.(2134-2136)CCG>CTG	p.P712L	ACO2_uc003bad.2_Missense_Mutation_p.P737L|POLR3H_uc003bae.2_RNA|POLR3H_uc003baf.2_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	712					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						TTCGCTGACCCGGCTGACTAC	0.607												
PACSIN2	11252	broad.mit.edu	37	22	43287156	43287156	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:43287156T>C	uc010gzg.2	-	4	472	c.250A>G	c.(250-252)ATG>GTG	p.M84V	PACSIN2_uc003bdg.3_Missense_Mutation_p.M84V|PACSIN2_uc003bde.3_Missense_Mutation_p.M84V|PACSIN2_uc003bdf.3_Missense_Mutation_p.M84V	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in	84					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity				0		Glioma(61;0.222)				ATGAAGGCCATCCAGGCCTTC	0.612												
CELSR1	9620	broad.mit.edu	37	22	46859850	46859850	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:46859850C>T	uc003bhw.1	-	2	3937	c.3937G>A	c.(3937-3939)GAG>AAG	p.E1313K		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1313	Extracellular (Potential).|EGF-like 1; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATGTAGTTCTCGCAGGGCTCG	0.627												
MLC1	23209	broad.mit.edu	37	22	50515292	50515292	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:50515292G>A	uc003bjg.1	-	7	848	c.575C>T	c.(574-576)GCT>GTT	p.A192V	MLC1_uc011arl.1_Missense_Mutation_p.A140V|MLC1_uc003bjh.1_Missense_Mutation_p.A192V|MLC1_uc011arm.1_Missense_Mutation_p.A162V|MLC1_uc011arn.1_Missense_Mutation_p.A113V|MLC1_uc011aro.1_Missense_Mutation_p.A158V	NM_139202	NP_631941	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with	192						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			pancreas(1)	1		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CAGGACCCGAGCAGGAAATGG	0.517												
SELO	83642	broad.mit.edu	37	22	50647129	50647129	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:50647129C>T	uc011arr.1	+	3	981	c.923C>T	c.(922-924)GCT>GTT	p.A308V	SELO_uc010hap.2_Missense_Mutation_p.A119V|SELO_uc003bjy.2_5'UTR|SELO_uc003bjz.2_5'Flank	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	308											0		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)		CAGAGAAATGCTGCCTTCTTC	0.612												
TUBGCP6	85378	broad.mit.edu	37	22	50657858	50657858	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:50657858C>T	uc003bkb.1	-	19	4855	c.4343G>A	c.(4342-4344)CGC>CAC	p.R1448H	TUBGCP6_uc003bka.1_Missense_Mutation_p.R535H|TUBGCP6_uc010har.1_Missense_Mutation_p.R1440H|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1448					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AAGCACGGGGCGCAAAAGATG	0.682												
HDAC10	83933	broad.mit.edu	37	22	50686696	50686696	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:50686696G>A	uc003bkg.2	-	12	1412	c.1039C>T	c.(1039-1041)CGT>TGT	p.R347C	HDAC10_uc003bke.2_Missense_Mutation_p.R73C|HDAC10_uc003bkf.2_Missense_Mutation_p.R73C|HDAC10_uc010hav.2_Missense_Mutation_p.R327C|HDAC10_uc003bkh.2_Missense_Mutation_p.R140C|HDAC10_uc003bki.2_Missense_Mutation_p.R297C|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_5'UTR	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1	347					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGGCAGCACGGGCACTCTGG	0.667												
PLXNB2	23654	broad.mit.edu	37	22	50728801	50728801	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:50728801C>T	uc003bkv.3	-	3	319	c.213G>A	c.(211-213)CCG>CCA	p.P71P		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	71	Extracellular (Potential).|Sema.				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)		TGTCCAGGGCCGGGCCCGTGG	0.642												
KLHDC7B	113730	broad.mit.edu	37	22	50987889	50987889	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:50987889G>A	uc003bmi.2	+	1	1428	c.1294G>A	c.(1294-1296)GCG>ACG	p.A432T		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	432	Kelch 3.									central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACCCCACGCGCGCCACTCCC	0.672												
BHLHE40	8553	broad.mit.edu	37	3	5023160	5023160	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:5023160G>A	uc003bqf.2	+	4	649	c.342G>A	c.(340-342)CAG>CAA	p.Q114Q	uc003bqe.1_5'Flank|uc010hce.1_5'Flank|BHLHE40_uc011asw.1_5'UTR	NM_003670	NP_003661	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	114						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTGATCAGCAGCAGCAGAAAA	0.448												
SRGAP3	9901	broad.mit.edu	37	3	9057341	9057341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:9057341G>A	uc003brf.1	-	15	2429	c.1753C>T	c.(1753-1755)CGA>TGA	p.R585*	SRGAP3_uc003brg.1_Nonsense_Mutation_p.R561*|SRGAP3_uc003bri.1_RNA	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	585	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCAGTCCTCGGAAATACAGT	0.388			T	RAF1	pilocytic astrocytoma							
CPNE9	151835	broad.mit.edu	37	3	9747737	9747737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:9747737C>T	uc003bsd.2	+	6	538	c.367C>T	c.(367-369)CGA>TGA	p.R123*		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	123										ovary(2)	2	Medulloblastoma(99;0.227)					CCGAGTAGAGCGAACCCTCAC	0.582												
IL17RC	84818	broad.mit.edu	37	3	9970062	9970062	+	Silent	SNP	C	C	T	rs151110374	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:9970062C>T	uc003bua.2	+	11	1400	c.1164C>T	c.(1162-1164)GAC>GAT	p.D388D	CIDEC_uc003bto.2_Intron|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Silent_p.D292D|IL17RC_uc003btz.2_Silent_p.D317D|IL17RC_uc011atp.1_Silent_p.D173D|IL17RC_uc003bud.2_Translation_Start_Site|IL17RC_uc003bub.2_Silent_p.D302D|IL17RC_uc010hct.2_Silent_p.D317D|IL17RC_uc010hcu.2_Silent_p.D317D|IL17RC_uc010hcv.2_Silent_p.D302D|IL17RC_uc011atq.1_Silent_p.D302D|IL17RC_uc003buc.2_Translation_Start_Site|IL17RC_uc003bue.2_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C isoform 1 precursor	388	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)|pancreas(1)	2						GGCTGCTGGACGCACCGTGCT	0.682												
TMEM111	55831	broad.mit.edu	37	3	10018666	10018666	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:10018666C>T	uc003bun.2	-	3	461	c.282G>A	c.(280-282)AAG>AAA	p.K94K	CIDEC_uc003bto.2_Intron|TMEM111_uc003buo.2_Silent_p.K94K	NM_018447	NP_060917	Q9P0I2	TM111_HUMAN	transmembrane protein 111	94						integral to membrane					0						GTGGCACTACCTTCCGTTTAG	0.368												
TATDN2	9797	broad.mit.edu	37	3	10301898	10301898	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:10301898T>C	uc003bvg.2	+	3	1073	c.492T>C	c.(490-492)ATT>ATC	p.I164I	TATDN2_uc003bvf.2_Silent_p.I164I|TATDN2_uc011atr.1_Silent_p.I164I|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	NM_014760	NP_055575	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	164						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			pancreas(2)	2						ATGATACAATTGAGGAACCCA	0.443												
TATDN2	9797	broad.mit.edu	37	3	10311865	10311865	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:10311865G>A	uc003bvg.2	+	4	1580	c.999G>A	c.(997-999)TGG>TGA	p.W333*	TATDN2_uc003bvf.2_Nonsense_Mutation_p.W333*|TATDN2_uc011atr.1_Nonsense_Mutation_p.W333*|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	NM_014760	NP_055575	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	333						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			pancreas(2)	2						GAAGTGACTGGTCTGATGTTG	0.512												
ATP2B2	491	broad.mit.edu	37	3	10370568	10370568	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:10370568G>A	uc003bvt.2	-	23	4101	c.3662C>T	c.(3661-3663)ACC>ATC	p.T1221I	ATP2B2_uc003bvv.2_Missense_Mutation_p.T1176I|ATP2B2_uc003bvw.2_Missense_Mutation_p.T1176I|ATP2B2_uc003bvs.2_RNA|ATP2B2_uc010hdo.2_Missense_Mutation_p.T926I|hsa-mir-378b|MI0014154_5'Flank	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1221	Cytoplasmic (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						GCTTGTGTCGGTCGTCAGGTT	0.607												
HRH1	3269	broad.mit.edu	37	3	11301949	11301949	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:11301949G>A	uc010hdr.2	+	2	1568	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	HRH1_uc010hds.2_Missense_Mutation_p.R409H|HRH1_uc010hdt.2_Missense_Mutation_p.R409H|HRH1_uc003bwb.3_Missense_Mutation_p.R409H	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	histamine receptor H1	409	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			large_intestine(1)|ovary(1)	2					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CACATGAACCGCGAAAGGAAG	0.483												
TIMP4	7079	broad.mit.edu	37	3	12200336	12200336	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:12200336G>A	uc003bwo.2	-	1	312	c.5C>T	c.(4-6)CCT>CTT	p.P2L	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	tissue inhibitor of metalloproteinase 4	2							metal ion binding|metalloendopeptidase inhibitor activity				0						AGGGCTCCCAGGCATGACACT	0.731												
CAND2	23066	broad.mit.edu	37	3	12858739	12858739	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:12858739C>A	uc003bxk.2	+	10	2357	c.2308C>A	c.(2308-2310)CCG>ACG	p.P770T	CAND2_uc003bxj.2_Missense_Mutation_p.P677T	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	770	HEAT 16.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						GACCCGTCCCCCGTGTGTGGA	0.637												
NUP210	23225	broad.mit.edu	37	3	13368884	13368884	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:13368884C>T	uc003bxv.1	-	32	4423	c.4340G>A	c.(4339-4341)CGC>CAC	p.R1447H		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1447	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					GCTGACTGTGCGGACAACGCA	0.617												
NUP210	23225	broad.mit.edu	37	3	13417008	13417008	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:13417008A>G	uc003bxv.1	-	11	1510	c.1427T>C	c.(1426-1428)ATA>ACA	p.I476T	NUP210_uc003bxx.2_Missense_Mutation_p.I148T	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	476	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					ACGTACCCTTATTGTGTACTG	0.473												
WNT7A	7476	broad.mit.edu	37	3	13896246	13896246	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:13896246G>A	uc003bye.1	-	3	658	c.353C>T	c.(352-354)GCC>GTC	p.A118V		NM_004625	NP_004616	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family,	118					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			ovary(2)|breast(1)	3						AGCTGTGATGGCGTGGGCCAC	0.647												
C3orf20	84077	broad.mit.edu	37	3	14724603	14724603	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:14724603G>A	uc003byy.2	+	3	787	c.383G>A	c.(382-384)CGC>CAC	p.R128H	C3orf20_uc003byz.2_Missense_Mutation_p.R6H|C3orf20_uc003bza.2_Missense_Mutation_p.R6H|C3orf20_uc003byx.1_Missense_Mutation_p.R128H	NM_032137	NP_115513	Q8ND61	CC020_HUMAN	hypothetical protein LOC84077	128						cytoplasm|integral to membrane				ovary(3)|skin(1)	4						CGTCAGGTGCGCACCCACCAG	0.532												
EAF1	85403	broad.mit.edu	37	3	15473709	15473709	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:15473709G>A	uc003bzu.2	+	3	537	c.314G>A	c.(313-315)AGC>AAC	p.S105N	EAF1_uc011avq.1_Intron	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN	ELL associated factor 1	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)	1						CTCAGTAGCAGCATTCAGGTG	0.383												
BTD	686	broad.mit.edu	37	3	15686427	15686427	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:15686427A>C	uc003cah.2	+	4	1167	c.1064A>C	c.(1063-1065)GAC>GCC	p.D355A	BTD_uc011avv.1_Missense_Mutation_p.D357A|BTD_uc011avw.1_Missense_Mutation_p.D357A|BTD_uc011avx.1_Missense_Mutation_p.D335A	NM_000060	NP_000051	P43251	BTD_HUMAN	biotinidase precursor	355	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity				0						GGTGAAACGGACCCATCCCAT	0.463												
TBC1D5	9779	broad.mit.edu	37	3	17202627	17202627	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:17202627C>T	uc003cbf.2	-	22	3881	c.2216G>A	c.(2215-2217)CGC>CAC	p.R739H	TBC1D5_uc010heu.2_Missense_Mutation_p.R326H|TBC1D5_uc010hev.2_Missense_Mutation_p.R761H|TBC1D5_uc003cbe.2_Missense_Mutation_p.R739H	NM_014744	NP_055559	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5 isoform b	739						intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						TCTGAGGGTGCGAAGAGGCTG	0.582												
SGOL1	151648	broad.mit.edu	37	3	20219765	20219765	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:20219765T>C	uc003cbs.2	-	4	601	c.414A>G	c.(412-414)TTA>TTG	p.L138L	SGOL1_uc003cbr.2_Silent_p.L138L|SGOL1_uc010hfa.2_Silent_p.L138L|SGOL1_uc003cbt.2_Silent_p.L138L|SGOL1_uc003cbu.2_Silent_p.L138L|SGOL1_uc003cbv.2_Silent_p.L138L|SGOL1_uc003cbw.2_Silent_p.L138L|SGOL1_uc003cbx.2_Silent_p.L138L|SGOL1_uc003cby.2_Silent_p.L138L|SGOL1_uc003cbz.2_Silent_p.L138L|SGOL1_uc003cca.2_Silent_p.L138L|SGOL1_uc003ccb.2_Silent_p.L138L|SGOL1_uc003ccc.2_Silent_p.L138L	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	138	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0						ATACTAACGGTAAATCCTTCA	0.308												
TOP2B	7155	broad.mit.edu	37	3	25677550	25677550	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:25677550A>T	uc011awn.1	-	7	772	c.729T>A	c.(727-729)GAT>GAA	p.D243E	TOP2B_uc003cdj.2_Missense_Mutation_p.D238E	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	243					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						ATTTGGACAGATCTGGTTGGA	0.373												
OSBPL10	114884	broad.mit.edu	37	3	31705672	31705672	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:31705672C>A	uc003cev.2	-	12	2530	c.2149G>T	c.(2149-2151)GCC>TCC	p.A717S	OSBPL10_uc003ceu.1_Missense_Mutation_p.A474S|OSBPL10_uc011axf.1_Missense_Mutation_p.A653S	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	717					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		TGCTCGGTGGCTGCGTCAATG	0.612												
TRIM71	131405	broad.mit.edu	37	3	32859644	32859644	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:32859644G>A	uc003cff.2	+	1	135	c.72G>A	c.(70-72)CCG>CCA	p.P24P		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	24	RING-type.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CGCCGGCGCCGCTCTCCTCCA	0.502												
CCR4	1233	broad.mit.edu	37	3	32995361	32995361	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:32995361G>A	uc003cfg.1	+	2	615	c.447G>A	c.(445-447)AGG>AGA	p.R149R		NM_005508	NP_005499	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	149	Cytoplasmic (Potential).				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				lung(1)	1						TGAGGGCAAGGACCTTGACTT	0.488												
TMPPE	643853	broad.mit.edu	37	3	33135323	33135323	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:33135323A>G	uc003cfk.2	-	2	556	c.365T>C	c.(364-366)CTG>CCG	p.L122P	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	122	Helical; (Potential).					integral to membrane	metal ion binding				0						GTAAGCACCCAGGCAGGAGTA	0.557												
CRTAP	10491	broad.mit.edu	37	3	33174141	33174141	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:33174141G>A	uc003cfl.3	+	5	1137	c.1017G>A	c.(1015-1017)CAG>CAA	p.Q339Q	CRTAP_uc010hfz.2_Silent_p.Q296Q|CRTAP_uc003cfm.2_Silent_p.Q160Q|CRTAP_uc003cfn.2_Silent_p.Q160Q	NM_006371	NP_006362	O75718	CRTAP_HUMAN	cartilage associated protein precursor	339						proteinaceous extracellular matrix	binding				0						TGTATTACCAGTACCACAGGG	0.522												
ARPP21	10777	broad.mit.edu	37	3	35833988	35833988	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:35833988T>C	uc003cgb.2	+	19	2411	c.2147T>C	c.(2146-2148)GTG>GCG	p.V716A	ARPP21_uc003cga.2_Missense_Mutation_p.V697A|ARPP21_uc011axy.1_Missense_Mutation_p.V717A|ARPP21_uc003cgf.2_Missense_Mutation_p.V552A|ARPP21_uc003cgg.2_Missense_Mutation_p.V239A	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	716	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						GTGCAAAGCGTGATGGTTTCC	0.458												
DLEC1	9940	broad.mit.edu	37	3	38155899	38155899	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:38155899C>A	uc003cho.1	+	26	3754	c.3733C>A	c.(3733-3735)CTG>ATG	p.L1245M	DLEC1_uc003chp.1_Missense_Mutation_p.L1245M|DLEC1_uc010hgv.1_Missense_Mutation_p.L1248M|DLEC1_uc003chr.1_Missense_Mutation_p.L316M|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_5'Flank	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	1245					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CATCAGCTCCCTGAGGACCAC	0.612												
SCN5A	6331	broad.mit.edu	37	3	38601889	38601889	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:38601889G>A	uc003cio.2	-	23	4188	c.3994C>T	c.(3994-3996)CCG>TCG	p.P1332S	SCN5A_uc003cin.2_Missense_Mutation_p.P1331S|SCN5A_uc003cil.3_Missense_Mutation_p.P1332S|SCN5A_uc010hhi.2_Missense_Mutation_p.P1332S|SCN5A_uc010hhk.2_Missense_Mutation_p.P1331S|SCN5A_uc011ayr.1_Missense_Mutation_p.P1278S|SCN5A_uc010hhj.1_Missense_Mutation_p.P942S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1332			P -> L (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATGATGGACGGGATGGCGCCC	0.577												
SCN11A	11280	broad.mit.edu	37	3	38938349	38938349	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:38938349A>G	uc011ays.1	-	14	2589	c.2390T>C	c.(2389-2391)ATA>ACA	p.I797T	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	797	II.|Helical; Name=S6 of repeat II; (By similarity).				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGTTTTCCTATCACCGTGAT	0.348												
WDR48	57599	broad.mit.edu	37	3	39107349	39107349	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:39107349C>T	uc003cit.2	+	3	247	c.237C>T	c.(235-237)AAC>AAT	p.N79N	WDR48_uc011ayt.1_Silent_p.N79N|WDR48_uc011ayu.1_Intron|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	79	WD 2.				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATTGGGTAAACGACATTGTAC	0.259												
ZNF620	253639	broad.mit.edu	37	3	40557460	40557460	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:40557460G>T	uc003ckk.2	+	5	524	c.375G>T	c.(373-375)CAG>CAT	p.Q125H	ZNF620_uc003ckl.2_Missense_Mutation_p.Q11H	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ATGTTTCCCAGCACCTTGACT	0.493												
HHATL	57467	broad.mit.edu	37	3	42739654	42739654	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:42739654A>C	uc003clw.2	-	7	820	c.673T>G	c.(673-675)TTT>GTT	p.F225V	HHATL_uc003clx.2_Missense_Mutation_p.F225V	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	225					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AAGCGATCAAAGGTCATGATG	0.527												
CCBP2	1238	broad.mit.edu	37	3	42906981	42906981	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:42906981C>T	uc003cme.2	+	3	1166	c.987C>T	c.(985-987)GCC>GCT	p.A329A	CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.2_Silent_p.A329A|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron	NM_001296	NP_001287	O00590	CCBP2_HUMAN	chemokine binding protein 2	329	Cytoplasmic (Potential).				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			lung(4)|skin(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TCCTGGCTGCCGTGCTTGGAT	0.557												
ZNF197	10168	broad.mit.edu	37	3	44685182	44685182	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:44685182G>T	uc003cnm.2	+	6	2766	c.2560G>T	c.(2560-2562)GGT>TGT	p.G854C	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	854	C2H2-type 18.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GTGTGGAAAAGGTTTTACGTA	0.428												
SLC6A20	54716	broad.mit.edu	37	3	45812748	45812748	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:45812748C>T	uc011bai.1	-	6	1020	c.896G>A	c.(895-897)GGC>GAC	p.G299D	SLC6A20_uc003cow.2_5'UTR|SLC6A20_uc011baj.1_Missense_Mutation_p.G262D	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	solute carrier family 6, member 20 isoform 1	299	Extracellular (Potential).				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGCCTTGAAGCCATAGATGGA	0.527												
LTF	4057	broad.mit.edu	37	3	46490409	46490409	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:46490409C>T	uc003cpq.2	-	9	1195	c.1157G>A	c.(1156-1158)GGC>GAC	p.G386D	LTF_uc003fzr.2_Missense_Mutation_p.G342D|LTF_uc010hjh.2_Missense_Mutation_p.G386D|LTF_uc003cpr.2_Missense_Mutation_p.G373D	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	386	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GGTCACGCTGCCTTCGCTCAA	0.682												
RTP3	83597	broad.mit.edu	37	3	46539591	46539591	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:46539591G>T	uc003cps.1	+	1	107	c.39G>T	c.(37-39)CAG>CAT	p.Q13H		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	transmembrane protein 7	13	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		AAATGTTTCAGGAGTTAATGC	0.587												
ALS2CL	259173	broad.mit.edu	37	3	46727050	46727050	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:46727050C>T	uc003cqa.1	-	7	941	c.751G>A	c.(751-753)GTG>ATG	p.V251M	ALS2CL_uc003cqb.1_Missense_Mutation_p.V251M|ALS2CL_uc003cqc.1_RNA	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like isoform 1	251					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AAGAGCAGCACACGCTCAGCC	0.622												
NBEAL2	23218	broad.mit.edu	37	3	47041836	47041836	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:47041836G>A	uc003cqp.2	+	27	4426	c.4247G>A	c.(4246-4248)GGC>GAC	p.G1416D	NBEAL2_uc010hjm.1_Missense_Mutation_p.G793D|NBEAL2_uc010hjn.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1416							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)		CTGGAGGACGGCAGCCTCCCG	0.667												
NBEAL2	23218	broad.mit.edu	37	3	47045639	47045639	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:47045639G>A	uc003cqp.2	+	37	6133	c.5954G>A	c.(5953-5955)CGT>CAT	p.R1985H	NBEAL2_uc010hjm.1_Missense_Mutation_p.R1362H|NBEAL2_uc010hjn.1_Missense_Mutation_p.R381H|NBEAL2_uc010hjo.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1985							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)		AACCTGCGCCGTTCAGCACTT	0.592												
KIF9	64147	broad.mit.edu	37	3	47286326	47286326	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:47286326G>T	uc010hjp.2	-	16	2073	c.1469C>A	c.(1468-1470)CCT>CAT	p.P490H	KIF9_uc003cqx.2_Missense_Mutation_p.P490H|KIF9_uc003cqy.2_Missense_Mutation_p.P490H|KIF9_uc011bat.1_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	490					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTTCTTCCCAGGTTTGGTAGA	0.562												
DHX30	22907	broad.mit.edu	37	3	47889027	47889027	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:47889027G>A	uc003cru.2	+	13	2536	c.2110_splice	c.e13+1	p.V704_splice	DHX30_uc003crt.2_Splice_Site_p.V665_splice|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30							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)		ATCCTGCCAGGTGAGAGCCCC	0.637												
CDC25A	993	broad.mit.edu	37	3	48200932	48200932	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:48200932T>A	uc003csh.1	-	14	1700	c.1336A>T	c.(1336-1338)AGA>TGA	p.R446*	CDC25A_uc003csi.1_Nonsense_Mutation_p.R406*	NM_001789	NP_001780	P30304	MPIP1_HUMAN	cell division cycle 25A isoform a	446	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|kidney(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCTCTCTCTCTCACATACCGG	0.507												
PLXNB1	5364	broad.mit.edu	37	3	48453996	48453996	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:48453996A>G	uc003csw.2	-	26	5158	c.4888T>C	c.(4888-4890)TCA>CCA	p.S1630P	PLXNB1_uc003cst.2_Missense_Mutation_p.S80P|PLXNB1_uc003csu.2_Missense_Mutation_p.S1447P|PLXNB1_uc003csx.2_Missense_Mutation_p.S1630P	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1630	Cytoplasmic (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCCGAGCTGAAAAGGTGCGC	0.577												
PLXNB1	5364	broad.mit.edu	37	3	48464927	48464927	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:48464927G>A	uc003csw.2	-	3	1364	c.1094C>T	c.(1093-1095)GCA>GTA	p.A365V	PLXNB1_uc003csu.2_Missense_Mutation_p.A365V|PLXNB1_uc003csx.2_Missense_Mutation_p.A365V|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	365	Extracellular (Potential).|Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGCAGCTGTGCACAGTCAGA	0.582												
TREX1	11277	broad.mit.edu	37	3	48508725	48508725	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:48508725G>T	uc003ctj.2	+	2	2093	c.836G>T	c.(835-837)AGG>ATG	p.R279M	TREX1_uc010hjy.2_Missense_Mutation_p.R224M|TREX1_uc003ctk.2_Missense_Mutation_p.R85M|TREX1_uc010hjz.2_Missense_Mutation_p.R224M|TREX1_uc010hka.2_Missense_Mutation_p.R279M	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1 isoform b	279					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTCACGCCAGGCCTTTCGGC	0.622								Direct_reversal_of_damage|Editing_and_processing_nucleases				
CELSR3	1951	broad.mit.edu	37	3	48681695	48681695	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:48681695T>C	uc003cul.2	-	27	8400	c.8119A>G	c.(8119-8121)ACA>GCA	p.T2707A	CELSR3_uc003cuf.1_Missense_Mutation_p.T2804A|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Missense_Mutation_p.T690A	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	2707	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGCAGGATGTGCGGGCAGCG	0.552												
CELSR3	1951	broad.mit.edu	37	3	48699591	48699591	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:48699591G>T	uc003cul.2	-	1	758	c.477C>A	c.(475-477)TCC>TCA	p.S159S	CELSR3_uc003cuf.1_Silent_p.S229S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	159	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGACCCCTGAGGACAGAGCCC	0.632												
ARIH2	10425	broad.mit.edu	37	3	49017843	49017843	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49017843G>A	uc003cvb.2	+	13	1483	c.1171G>A	c.(1171-1173)GAG>AAG	p.E391K	ARIH2_uc003cvc.2_Missense_Mutation_p.E391K|ARIH2_uc003cvf.2_Missense_Mutation_p.E309K|ARIH2_uc010hkl.2_Intron	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	391	Potential.				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GCGGATTCACGAGAAGATTCA	0.493												
USP19	10869	broad.mit.edu	37	3	49148785	49148785	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49148785C>T	uc003cwd.1	-	21	3083	c.2922G>A	c.(2920-2922)GGG>GGA	p.G974G	USP19_uc003cwa.2_Silent_p.G782G|USP19_uc003cvz.3_Silent_p.G1077G|USP19_uc011bcg.1_Silent_p.G1065G|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Silent_p.G732G|USP19_uc011bch.1_Silent_p.G1075G	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	974	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATGCTGGTACCCAGGCACAG	0.532												
LAMB2	3913	broad.mit.edu	37	3	49160234	49160234	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49160234C>A	uc003cwe.2	-	27	4775	c.4476G>T	c.(4474-4476)CAG>CAT	p.Q1492H	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1492	Potential.|Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGGGCTGCCTGGGCCCGCT	0.602												
LAMB2	3913	broad.mit.edu	37	3	49168433	49168433	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49168433C>T	uc003cwe.2	-	7	1164	c.865G>A	c.(865-867)GCC>ACC	p.A289T	LAMB2_uc003cwf.1_Missense_Mutation_p.A289T	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	289	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)		CACTCTGAGGCGTGTCCGTAG	0.612												
DAG1	1605	broad.mit.edu	37	3	49568912	49568912	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49568912C>T	uc003cxc.3	+	3	1386	c.968C>T	c.(967-969)GCC>GTC	p.A323V		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	323	Thr-rich.|Required for laminin recognition.|Mucin-like domain.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCTGTCACTGCCATTGGGCCC	0.607												
DAG1	1605	broad.mit.edu	37	3	49569629	49569629	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49569629A>G	uc003cxc.3	+	3	2103	c.1685A>G	c.(1684-1686)TAT>TGT	p.Y562C		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	562	Peptidase S72.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGCTCATGTATGGCCTTCCC	0.582												
RNF123	63891	broad.mit.edu	37	3	49758693	49758693	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49758693C>T	uc003cxh.2	+	39	3986	c.3900C>T	c.(3898-3900)GAC>GAT	p.D1300D	RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	1300						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)		CTGTAGAGGACTGGGAGAAGG	0.552												
MON1A	84315	broad.mit.edu	37	3	49948980	49948980	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:49948980C>T	uc003cxz.2	-	3	1009	c.883G>A	c.(883-885)GCC>ACC	p.A295T	MON1A_uc003cya.2_Intron|MON1A_uc003cyb.2_Intron	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	198							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAGCGGATGGCGTTCTTGTCT	0.597												
RBM6	10180	broad.mit.edu	37	3	50095850	50095850	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:50095850G>A	uc003cyc.2	+	10	2118	c.1985G>A	c.(1984-1986)CGT>CAT	p.R662H	RBM6_uc010hlc.1_Missense_Mutation_p.R181H|RBM6_uc003cyd.2_Missense_Mutation_p.R140H|RBM6_uc003cye.2_Missense_Mutation_p.R140H|RBM6_uc011bdi.1_Missense_Mutation_p.R4H|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	662					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ATGCTAAAGCGTATCTATCGT	0.448												
DNAH1	25981	broad.mit.edu	37	3	52412741	52412741	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:52412741G>A	uc011bef.1	+	47	7583	c.7322G>A	c.(7321-7323)AGG>AAG	p.R2441K		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2441	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTCAACCTGAGGGACCTCTCC	0.612												
ITIH1	3697	broad.mit.edu	37	3	52813485	52813485	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:52813485C>A	uc003dfs.2	+	5	472	c.448C>A	c.(448-450)CTC>ATC	p.L150I	ITIH1_uc010hmn.1_RNA	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	150	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CACCATCCACCTCACCGTCAA	0.498												
ITIH4	3700	broad.mit.edu	37	3	52847501	52847501	+	Missense_Mutation	SNP	C	C	T	rs113454148	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:52847501C>T	uc003dfz.2	-	24	2765	c.2729G>A	c.(2728-2730)CGC>CAC	p.R910H	uc003dfw.1_5'Flank|ITIH4_uc011bel.1_Missense_Mutation_p.R624H|ITIH4_uc003dfy.2_Missense_Mutation_p.R705H|ITIH4_uc011bem.1_Missense_Mutation_p.R915H|ITIH4_uc011ben.1_Missense_Mutation_p.R880H	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	910					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATCCAGCCTGCGCTCTCTGAA	0.567												
RFT1	91869	broad.mit.edu	37	3	53156577	53156577	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:53156577A>G	uc003dgj.2	-	4	323	c.269T>C	c.(268-270)GTC>GCC	p.V90A	RFT1_uc003dgk.2_Missense_Mutation_p.V51A	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	90	Helical; (Potential).				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		ACCCAGGGGGACTCTAGAAGA	0.338												
CACNA1D	776	broad.mit.edu	37	3	53760915	53760915	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:53760915G>T	uc003dgv.3	+	15	2273	c.2110G>T	c.(2110-2112)GGC>TGC	p.G704C	CACNA1D_uc003dgu.3_Missense_Mutation_p.G724C|CACNA1D_uc003dgy.3_Missense_Mutation_p.G704C|CACNA1D_uc003dgw.3_Missense_Mutation_p.G371C	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	704	Extracellular (Potential).|II.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GATCCTGACAGGCGAAGACTG	0.517												
CACNA1D	776	broad.mit.edu	37	3	53777054	53777054	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:53777054C>A	uc003dgv.3	+	22	2991	c.2828C>A	c.(2827-2829)GCT>GAT	p.A943D	CACNA1D_uc003dgu.3_Missense_Mutation_p.A963D|CACNA1D_uc003dgy.3_Missense_Mutation_p.A943D|CACNA1D_uc003dgw.3_Missense_Mutation_p.A610D|CACNA1D_uc003dgx.1_Missense_Mutation_p.A91D	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	943	Cytoplasmic (Potential).|III.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACTTTTGGAGCTTTCCTCCAC	0.428												
CHDH	55349	broad.mit.edu	37	3	53852202	53852202	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:53852202G>A	uc003dgz.2	-	9	1827	c.1387C>T	c.(1387-1389)CGT>TGT	p.R463C		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	choline dehydrogenase precursor	463					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)	ACACACAGACGGAAATCCTCA	0.527												
FLNB	2317	broad.mit.edu	37	3	58094188	58094188	+	Nonsense_Mutation	SNP	C	C	T	rs80356517		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:58094188C>T	uc003djj.2	+	13	2110	c.1945C>T	c.(1945-1947)CGA>TGA	p.R649*	FLNB_uc010hne.2_Nonsense_Mutation_p.R649*|FLNB_uc003djk.2_Nonsense_Mutation_p.R649*|FLNB_uc010hnf.2_Nonsense_Mutation_p.R649*|FLNB_uc003djl.2_Nonsense_Mutation_p.R480*|FLNB_uc003djm.2_Nonsense_Mutation_p.R480*	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	649	Filamin 5.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCTTCAGGTTCGAGCATACGG	0.468												
FLNB	2317	broad.mit.edu	37	3	58098037	58098037	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:58098037A>G	uc003djj.2	+	18	2902	c.2737A>G	c.(2737-2739)ACC>GCC	p.T913A	FLNB_uc010hne.2_Missense_Mutation_p.T913A|FLNB_uc003djk.2_Missense_Mutation_p.T913A|FLNB_uc010hnf.2_Missense_Mutation_p.T913A|FLNB_uc003djl.2_Missense_Mutation_p.T744A|FLNB_uc003djm.2_Missense_Mutation_p.T744A	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	913	Filamin 7.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATATACACCCACCCAACAGGT	0.547												
FLNB	2317	broad.mit.edu	37	3	58135696	58135696	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:58135696G>A	uc003djj.2	+	37	6376	c.6211G>A	c.(6211-6213)GTC>ATC	p.V2071I	FLNB_uc010hne.2_Missense_Mutation_p.V2102I|FLNB_uc003djk.2_Missense_Mutation_p.V2060I|FLNB_uc010hnf.2_Missense_Mutation_p.V2047I|FLNB_uc003djl.2_Missense_Mutation_p.V1891I|FLNB_uc003djm.2_Missense_Mutation_p.V1878I|FLNB_uc010hng.1_RNA	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2071	Interaction with FLNA 1.|Filamin 19.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTTTATATCGTCTCCACCAA	0.562												
PXK	54899	broad.mit.edu	37	3	58380796	58380796	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:58380796C>T	uc003djz.1	+	8	786	c.687C>T	c.(685-687)AAC>AAT	p.N229N	PXK_uc003djx.1_Silent_p.N229N|PXK_uc003djy.1_Silent_p.N212N|PXK_uc003dka.1_Silent_p.N229N|PXK_uc003dkb.1_Silent_p.N146N|PXK_uc003dkc.1_Silent_p.N212N|PXK_uc011bfe.1_Silent_p.N196N|PXK_uc010hnj.1_Silent_p.N196N|PXK_uc003dkd.1_Silent_p.N92N|PXK_uc010hnk.1_Silent_p.N3N	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	229	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GGATGTTTAACGAAAAGGGAA	0.383												
FHIT	2272	broad.mit.edu	37	3	59999865	59999865	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:59999865G>A	uc003dkx.3	-	6	488	c.117C>T	c.(115-117)TGC>TGT	p.C39C	FHIT_uc003dky.2_Silent_p.C39C|FHIT_uc010hnn.1_Silent_p.C39C	NM_002012	NP_002003	P49789	FHIT_HUMAN	fragile histidine triad gene	39	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding				0		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GCCGCAGCGGGCACACAAGGA	0.532			T	HMGA2	pleomorphic salivary gland adenoma				Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			
CADPS	8618	broad.mit.edu	37	3	62860690	62860690	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:62860690C>T	uc003dll.2	-	1	375	c.15G>A	c.(13-15)TCG>TCA	p.S5S	CADPS_uc003dlm.2_Silent_p.S5S|CADPS_uc003dln.2_Silent_p.S5S	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	5					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTTCGCTGGACGAAGGGTCCA	0.687												
PRICKLE2	166336	broad.mit.edu	37	3	64085234	64085234	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:64085234G>A	uc003dmf.2	-	8	2614	c.2028C>T	c.(2026-2028)CGC>CGT	p.R676R		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	676	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGTTGTCGTCGCGTGAAGTAG	0.642												
ADAMTS9	56999	broad.mit.edu	37	3	64644466	64644466	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:64644466T>C	uc003dmg.2	-	4	713	c.681A>G	c.(679-681)GAA>GAG	p.E227E	ADAMTS9_uc011bfo.1_Silent_p.E227E|ADAMTS9_uc003dmh.1_Silent_p.E56E|ADAMTS9_uc003dmk.1_Silent_p.E227E	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	227	Cysteine switch (By similarity).				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)		TATTTTTGTGTTCTGTAACAA	0.363												
SLC25A26	115286	broad.mit.edu	37	3	66293716	66293716	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:66293716G>A	uc011bfq.1	+	4	1008	c.280G>A	c.(280-282)GCT>ACT	p.A94T	SLC25A26_uc011bfs.1_Missense_Mutation_p.A6T|SLC25A26_uc011bft.1_RNA|SLC25A26_uc011bfr.1_Missense_Mutation_p.A94T|SLC25A26_uc003dmt.2_Missense_Mutation_p.A6T	NM_173471	NP_775742	Q70HW3	SAMC_HUMAN	solute carrier family 25, member 26 isoform a	94	Solcar 2.|Helical; Name=3; (Potential).					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			pancreas(1)	1		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		ACATATGTTGGCTGCCTCTGC	0.313												
LRIG1	26018	broad.mit.edu	37	3	66430714	66430714	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:66430714C>T	uc003dmx.2	-	19	3269	c.3255G>A	c.(3253-3255)GTG>GTA	p.V1085V	SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Silent_p.V705V|LRIG1_uc003dmw.2_Silent_p.V751V|LRIG1_uc010hnz.2_Silent_p.V801V|LRIG1_uc010hoa.2_Silent_p.V1062V	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	1085	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACAGCAGTGGCACCCTCTGTT	0.547												
LRIG1	26018	broad.mit.edu	37	3	66436662	66436662	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:66436662T>C	uc003dmx.2	-	13	1546	c.1532A>G	c.(1531-1533)GAC>GGC	p.D511G	SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Missense_Mutation_p.D131G|LRIG1_uc003dmw.2_Missense_Mutation_p.D177G|LRIG1_uc010hnz.2_Missense_Mutation_p.D227G|LRIG1_uc010hoa.2_Missense_Mutation_p.D535G	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	511	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)		AAACCGGATGTCCTTGCCCAC	0.537												
LRIG1	26018	broad.mit.edu	37	3	66463427	66463427	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:66463427C>T	uc003dmx.2	-	6	673	c.659G>A	c.(658-660)CGG>CAG	p.R220Q	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.R220Q	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	220	Extracellular (Potential).|LRR 7.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AATCCTGTTCCGATTGAGGTC	0.517												
FRMD4B	23150	broad.mit.edu	37	3	69231821	69231821	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:69231821C>T	uc003dnv.2	-	20	2257	c.1967G>A	c.(1966-1968)CGG>CAG	p.R656Q	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.R308Q|FRMD4B_uc011bga.1_Missense_Mutation_p.R500Q	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	656						cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TCCCTGGGGCCGCCTCTCCAG	0.493												
FRMD4B	23150	broad.mit.edu	37	3	69435090	69435090	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:69435090G>A	uc003dnv.2	-	1	341	c.51C>T	c.(49-51)AGC>AGT	p.S17S	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dny.2_Silent_p.S17S	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	17						cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		ATACGAAGCGGCTGCCGCTGA	0.657												
FOXP1	27086	broad.mit.edu	37	3	71015109	71015109	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:71015109G>A	uc003dol.2	-	16	2144	c.1821C>T	c.(1819-1821)AAC>AAT	p.N607N	FOXP1_uc003dom.2_Silent_p.N531N|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.N606N|FOXP1_uc003dop.2_Silent_p.N607N|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Silent_p.N507N|FOXP1_uc003doj.2_Silent_p.N507N|FOXP1_uc003dok.2_Silent_p.N420N	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	607					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CCATTGCCCCGTTCAGCTCTT	0.512			T	PAX5	ALL							
EIF4E3	317649	broad.mit.edu	37	3	71745673	71745673	+	Splice_Site	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:71745673T>G	uc003dov.3	-	4	353	c.345_splice	c.e4-1	p.W115_splice	EIF4E3_uc011bgc.1_Splice_Site_p.W9_splice|EIF4E3_uc003dox.2_Splice_Site_p.W9_splice|EIF4E3_uc011bgd.1_Splice_Site_p.W9_splice|EIF4E3_uc010hoc.2_Splice_Site_p.W9_splice	NM_001134651	NP_001128123	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E						regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		TCCTCTTCCCTGGGCCAAAGA	0.438												
PDZRN3	23024	broad.mit.edu	37	3	73433841	73433841	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:73433841T>C	uc003dpl.1	-	10	1972	c.1876A>G	c.(1876-1878)ATT>GTT	p.I626V	PDZRN3_uc011bgh.1_Missense_Mutation_p.I283V|PDZRN3_uc010hoe.1_Missense_Mutation_p.I324V|PDZRN3_uc011bgf.1_Missense_Mutation_p.I343V|PDZRN3_uc011bgg.1_Missense_Mutation_p.I346V	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	626							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCGGCCGAAATGAAAGACTCG	0.667												
CNTN3	5067	broad.mit.edu	37	3	74351871	74351871	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:74351871C>A	uc003dpm.1	-	13	1836	c.1756G>T	c.(1756-1758)GTT>TTT	p.V586F		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	586	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCAGATGAAACACTGTCCACC	0.418												
CNTN3	5067	broad.mit.edu	37	3	74420514	74420514	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:74420514G>A	uc003dpm.1	-	5	571	c.491C>T	c.(490-492)TCG>TTG	p.S164L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	164	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTCAACAAACGATGGGTATTC	0.403												
ROBO1	6091	broad.mit.edu	37	3	78988044	78988044	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:78988044C>T	uc003dqe.2	-	4	414	c.206G>A	c.(205-207)CGC>CAC	p.R69H	ROBO1_uc003dqb.2_Missense_Mutation_p.R30H|ROBO1_uc003dqc.2_Missense_Mutation_p.R30H|ROBO1_uc003dqd.2_Missense_Mutation_p.R30H	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	69	Extracellular (Potential).|Ig-like C2-type 1.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCAACAATGCGAGGTGGAAA	0.433												
CGGBP1	8545	broad.mit.edu	37	3	88104748	88104748	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:88104748G>A	uc003dqs.2	-	4	891	c.379C>T	c.(379-381)CGT>TGT	p.R127C	CGGBP1_uc003dqt.2_Missense_Mutation_p.R127C|CGGBP1_uc003dqu.2_Missense_Mutation_p.R127C	NM_001008390	NP_001008391	Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding				0		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		AGGAAAGCACGGACTGCTGGG	0.483												
EPHA3	2042	broad.mit.edu	37	3	89521671	89521671	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:89521671A>G	uc003dqy.2	+	16	2973	c.2748A>G	c.(2746-2748)ACA>ACG	p.T916T	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	916	Cytoplasmic (Potential).|SAM.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCCGCACAACAGGTGACTGGC	0.468										TSP Lung(6;0.00050)		
DHFRL1	200895	broad.mit.edu	37	3	93779907	93779907	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:93779907G>A	uc003dri.2	-	2	615	c.449C>T	c.(448-450)TCA>TTA	p.S150L	DHFRL1_uc003drj.2_Missense_Mutation_p.S150L|NSUN3_uc003drk.2_5'Flank|NSUN3_uc003drl.1_5'Flank	NM_176815	NP_789785	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	150	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding				0						GTCAATTTCTGAAAAAAACGT	0.398												
COL8A1	1295	broad.mit.edu	37	3	99514882	99514882	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:99514882C>T	uc003dtg.1	+	5	2382	c.2137C>T	c.(2137-2139)CGG>TGG	p.R713W	COL8A1_uc003dth.1_Missense_Mutation_p.R713W|COL8A1_uc003dti.1_Missense_Mutation_p.R714W	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	713	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						GCCCGGAGACCGGGTGTTCCT	0.537												
ABI3BP	25890	broad.mit.edu	37	3	100489671	100489671	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:100489671T>C	uc003dun.2	-	29	2609	c.2524A>G	c.(2524-2526)ACC>GCC	p.T842A	ABI3BP_uc003duj.2_Missense_Mutation_p.T422A|ABI3BP_uc003duk.2_Missense_Mutation_p.T551A|ABI3BP_uc003dul.2_Missense_Mutation_p.T672A|ABI3BP_uc011bhd.1_Missense_Mutation_p.T796A|ABI3BP_uc003dum.2_Missense_Mutation_p.T253A	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	842	Fibronectin type-III 2.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						GTGAGGTTGGTGGGTGGGTTC	0.547												
HHLA2	11148	broad.mit.edu	37	3	108074114	108074114	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:108074114G>A	uc003dwy.3	+	5	738	c.571G>A	c.(571-573)GAT>AAT	p.D191N	HHLA2_uc011bhl.1_Missense_Mutation_p.D127N|HHLA2_uc010hpu.2_Missense_Mutation_p.D191N|HHLA2_uc003dwz.2_Missense_Mutation_p.D191N	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2 precursor	191	Ig-like C1-type.					integral to membrane				ovary(1)	1						AGGGTCTTTGGATTCTTTTTC	0.378												
CD96	10225	broad.mit.edu	37	3	111297890	111297890	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:111297890A>G	uc003dxw.2	+	5	778	c.608A>G	c.(607-609)CAG>CGG	p.Q203R	CD96_uc003dxv.2_Missense_Mutation_p.Q187R|CD96_uc003dxx.2_Missense_Mutation_p.Q187R|CD96_uc010hpy.1_Missense_Mutation_p.Q187R	NM_198196	NP_937839	P40200	TACT_HUMAN	CD96 antigen isoform 1 precursor	203	Extracellular (Potential).|Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3						AATGGAACTCAGGAAACACTT	0.274									Opitz_Trigonocephaly_syndrome			
CCDC80	151887	broad.mit.edu	37	3	112358121	112358121	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:112358121T>C	uc003dzf.2	-	2	850	c.632A>G	c.(631-633)GAG>GGG	p.E211G	CCDC80_uc011bhv.1_Missense_Mutation_p.E211G|CCDC80_uc003dzg.2_Missense_Mutation_p.E211G|CCDC80_uc003dzh.1_Missense_Mutation_p.E211G	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	211										ovary(2)	2						CAGGGGCTGCTCCAGGATCTG	0.587												
WDR52	55779	broad.mit.edu	37	3	113115474	113115474	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:113115474C>T	uc003eae.1	-	14	1716	c.1670G>A	c.(1669-1671)CGG>CAG	p.R557Q		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	557										central_nervous_system(1)	1						AATTTTCTTCCGTCCCGCAAA	0.388												
ZDHHC23	254887	broad.mit.edu	37	3	113675184	113675184	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:113675184A>G	uc003eau.2	+	4	1172	c.873_splice	c.e4-2	p.W291_splice	ZDHHC23_uc003eav.2_Splice_Site_p.W285_splice|ZDHHC23_uc003eaw.1_5'Flank	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC domain containing 23							integral to membrane	acyltransferase activity|zinc ion binding			ovary(2)	2						TGCTGTTTTGAGGATAAATAG	0.313												
KIAA1407	57577	broad.mit.edu	37	3	113737606	113737606	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:113737606C>A	uc003eax.2	-	8	1229	c.1082G>T	c.(1081-1083)CGG>CTG	p.R361L	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.R339L|KIAA1407_uc011bip.1_Missense_Mutation_p.R348L	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	361										ovary(2)	2						TCTCCAGGCCCGCAGGACCTT	0.478												
ZBTB20	26137	broad.mit.edu	37	3	114070045	114070045	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:114070045G>A	uc003ebi.2	-	4	1060	c.880C>T	c.(880-882)CGC>TGC	p.R294C	ZBTB20_uc003ebj.2_Missense_Mutation_p.R221C|ZBTB20_uc010hqp.2_Missense_Mutation_p.R221C|ZBTB20_uc003ebk.2_Missense_Mutation_p.R221C|ZBTB20_uc003ebl.2_Missense_Mutation_p.R221C|ZBTB20_uc003ebm.2_Missense_Mutation_p.R221C|ZBTB20_uc003ebn.2_Missense_Mutation_p.R221C|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGCTGCGAGCGCTCATGGATG	0.652												
ADPRH	141	broad.mit.edu	37	3	119306493	119306493	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:119306493C>A	uc003ecs.2	+	5	1140	c.842C>A	c.(841-843)GCT>GAT	p.A281D	ADPRH_uc010hqv.2_Missense_Mutation_p.A281D|ADPRH_uc011bjb.1_Missense_Mutation_p.A174D|ADPRH_uc003ect.2_Missense_Mutation_p.A281D	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	281					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GCCTACGATGCTGTTCTTGCT	0.572												
HCLS1	3059	broad.mit.edu	37	3	121363692	121363692	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:121363692G>A	uc003eeh.3	-	5	497	c.372C>T	c.(370-372)TAC>TAT	p.Y124Y	HCLS1_uc011bjj.1_Silent_p.Y124Y|HCLS1_uc011bjk.1_RNA|HCLS1_uc011bjl.1_Silent_p.Y124Y	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	124	Cortactin 2.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)		TCTCAACTCCGTACTTGCCCC	0.547												
MYLK	4638	broad.mit.edu	37	3	123359180	123359180	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:123359180C>T	uc003ego.2	-	28	5073	c.4791G>A	c.(4789-4791)ACG>ACA	p.T1597T	MYLK_uc010hrr.2_Silent_p.T32T|MYLK_uc011bjv.1_Silent_p.T397T|MYLK_uc011bjw.1_Silent_p.T1597T|MYLK_uc003egp.2_Silent_p.T1528T|MYLK_uc003egq.2_Silent_p.T1597T|MYLK_uc003egr.2_Silent_p.T1528T|MYLK_uc003egs.2_Silent_p.T1421T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1597	Protein kinase.				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)		TCCTGGTGCCCGTCTTGTTGA	0.562												
KALRN	8997	broad.mit.edu	37	3	124017664	124017664	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:124017664G>T	uc003ehg.2	+	6	1117	c.990G>T	c.(988-990)AAG>AAT	p.K330N	KALRN_uc010hrv.1_Missense_Mutation_p.K330N|KALRN_uc003ehf.1_Missense_Mutation_p.K330N|KALRN_uc011bjy.1_Missense_Mutation_p.K330N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	330	Spectrin 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GCCACAACAAGGAGTTATTCC	0.493												
KALRN	8997	broad.mit.edu	37	3	124438037	124438037	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:124438037G>T	uc003ehg.2	+	60	8808	c.8681G>T	c.(8680-8682)AGG>ATG	p.R2894M	KALRN_uc003ehk.2_Missense_Mutation_p.R1197M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2893	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						AACGTATGCAGGGTGGATTTC	0.498												
MUC13	56667	broad.mit.edu	37	3	124632523	124632523	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:124632523G>T	uc003ehq.1	-	7	991	c.967C>A	c.(967-969)CTT>ATT	p.L323I		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, epithelial transmembrane	323	EGF-like 2.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0						TCACACCGAAGGGTCACTGAG	0.413												
KLF15	28999	broad.mit.edu	37	3	126070712	126070712	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:126070712C>T	uc011bkk.1	-	2	1236	c.1054G>A	c.(1054-1056)GCC>ACC	p.A352T		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	352	C2H2-type 2.					nucleus	DNA binding|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(114;0.147)		CAGGTGCAGGCGAAGGGCTTC	0.592												
PLXNA1	5361	broad.mit.edu	37	3	126736666	126736666	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:126736666T>C	uc003ejg.2	+	18	3526	c.3522T>C	c.(3520-3522)TGT>TGC	p.C1174C		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1197	Extracellular (Potential).|IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CCACACCCTGTACCCTCACCG	0.652												
MCM2	4171	broad.mit.edu	37	3	127338055	127338055	+	Silent	SNP	G	G	A	rs144817363		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:127338055G>A	uc003ejp.2	+	13	2256	c.2199G>A	c.(2197-2199)CCG>CCA	p.P733P	MCM2_uc011bkm.1_Silent_p.P603P|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.P686P	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	733					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						GGGTCCACCCGAAGCTCAACC	0.597												
RAB43	339122	broad.mit.edu	37	3	128840142	128840142	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:128840142C>T	uc003eln.1	-	1	478	c.191G>A	c.(190-192)GGC>GAC	p.G64D	RAB43_uc003elo.1_Intron|RAB43_uc010hsy.1_Missense_Mutation_p.G64D	NM_198490	NP_940892	Q86YS6	RAB43_HUMAN	RAB43 protein	64					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			lung(1)	1						GACCCGCTTGCCCTGGATCTC	0.716												
IFT122	55764	broad.mit.edu	37	3	129214425	129214425	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:129214425A>G	uc003emm.2	+	18	2389	c.2183A>G	c.(2182-2184)GAC>GGC	p.D728G	IFT122_uc003eml.2_Missense_Mutation_p.D779G|IFT122_uc003emn.2_Missense_Mutation_p.D669G|IFT122_uc003emo.2_Missense_Mutation_p.D617G|IFT122_uc003emp.2_Missense_Mutation_p.D578G|IFT122_uc010htc.2_Missense_Mutation_p.D720G|IFT122_uc011bky.1_Missense_Mutation_p.D519G|IFT122_uc003emq.2_Missense_Mutation_p.D568G|IFT122_uc003emr.2_Missense_Mutation_p.D480G|IFT122_uc011bla.1_Missense_Mutation_p.D501G|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Missense_Mutation_p.D109G|IFT122_uc011bkx.1_Missense_Mutation_p.D568G|IFT122_uc010htd.1_Missense_Mutation_p.D207G	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	728					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						ATGTACACCGACCTCTGCATG	0.532												
DNAJC13	23317	broad.mit.edu	37	3	132221232	132221232	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:132221232T>C	uc003eor.2	+	40	4701	c.4636T>C	c.(4636-4638)TAT>CAT	p.Y1546H		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1546							heat shock protein binding			ovary(1)|breast(1)	2						AATTTTGTGGTATCTCCTTGG	0.413												
RAB6B	51560	broad.mit.edu	37	3	133553465	133553465	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:133553465C>T	uc003epy.2	-	7	897	c.516G>A	c.(514-516)TCG>TCA	p.S172S	RAB6B_uc011blu.1_Silent_p.S159S	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	172					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			pancreas(1)	1						CGGGTAGAGCCGACGCCACAC	0.502												
SLCO2A1	6578	broad.mit.edu	37	3	133692546	133692546	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:133692546A>G	uc003eqa.3	-	3	632	c.358T>C	c.(358-360)TTC>CTC	p.F120L	SLCO2A1_uc003eqb.3_Missense_Mutation_p.F120L|SLCO2A1_uc011blv.1_Missense_Mutation_p.F120L|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family,	120	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			central_nervous_system(1)	1						TCGGAGAGGAAGTGTGGGAGG	0.572												
AMOTL2	51421	broad.mit.edu	37	3	134085137	134085137	+	Missense_Mutation	SNP	G	G	A	rs144219366		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:134085137G>A	uc003eqf.2	-	4	1465	c.1348C>T	c.(1348-1350)CGG>TGG	p.R450W	AMOTL2_uc003eqg.1_Missense_Mutation_p.R392W|AMOTL2_uc003eqh.1_Missense_Mutation_p.R392W|AMOTL2_uc003eqe.1_Missense_Mutation_p.R17W	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	392	Potential.									large_intestine(1)	1						CTAAGATCCCGGTTGAAGTCT	0.507												
EPHB1	2047	broad.mit.edu	37	3	134670334	134670334	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:134670334C>G	uc003eqt.2	+	3	465	c.245C>G	c.(244-246)GCC>GGC	p.A82G	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.A82G	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	82	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						CGGCGGGGGGCCCATCGCATC	0.532												
MSL2	55167	broad.mit.edu	37	3	135870112	135870112	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:135870112A>G	uc003eqx.1	-	2	2344	c.1611T>C	c.(1609-1611)CGT>CGC	p.R537R	MSL2_uc011bmb.1_Silent_p.R463R	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	537					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						TACTAGCGTTACGCACAGCAA	0.488												
PIK3CB	5291	broad.mit.edu	37	3	138433529	138433529	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:138433529A>G	uc011bmq.1	-	7	1083	c.1083T>C	c.(1081-1083)ACT>ACC	p.T361T	PIK3CB_uc011bmo.1_5'UTR|PIK3CB_uc011bmp.1_5'UTR	NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	361	C2 PI3K-type.				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						ACAGGAGCTCAGTACCATGAA	0.368												
PRR23B	389151	broad.mit.edu	37	3	138739078	138739078	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:138739078G>A	uc003esy.1	-	1	691	c.426C>T	c.(424-426)TGC>TGT	p.C142C		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	142										breast(1)	1						GGACAGATGCGCAGAATTCCA	0.662												
COPB2	9276	broad.mit.edu	37	3	139081286	139081286	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:139081286T>C	uc003etf.3	-	16	2088	c.1958A>G	c.(1957-1959)GAG>GGG	p.E653G	COPB2_uc011bmv.1_Missense_Mutation_p.E624G|COPB2_uc010hui.2_Missense_Mutation_p.E624G	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	653					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						AATTTTTAACTCTCCAAGCTG	0.363												
CLSTN2	64084	broad.mit.edu	37	3	140281016	140281016	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:140281016A>G	uc003etn.2	+	13	2268	c.2078A>G	c.(2077-2079)AAC>AGC	p.N693S		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	693	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						ATGCTTCATAACTTAGATTTC	0.488										HNSCC(16;0.037)		
CLSTN2	64084	broad.mit.edu	37	3	140281769	140281769	+	Missense_Mutation	SNP	C	C	T	rs112029581	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:140281769C>T	uc003etn.2	+	14	2519	c.2329C>T	c.(2329-2331)CGC>TGC	p.R777C		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	777	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						ACTCAATGGGCGCTACACTAG	0.537										HNSCC(16;0.037)		
TRIM42	287015	broad.mit.edu	37	3	140401956	140401956	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:140401956G>A	uc003eto.1	+	2	1185	c.994G>A	c.(994-996)GAG>AAG	p.E332K		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	332						intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						CGCCTGCTCCGAGAGGGCCGC	0.537												
PCOLCE2	26577	broad.mit.edu	37	3	142561847	142561847	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:142561847A>G	uc003evd.2	-	4	688	c.492T>C	c.(490-492)TCT>TCC	p.S164S		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	164	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.S164Y(1)		ovary(2)|skin(1)	3						GGGTTTTAAAAGAGCCGGAAG	0.473												
CHST2	9435	broad.mit.edu	37	3	142840157	142840157	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:142840157G>A	uc003evm.2	+	2	1388	c.499G>A	c.(499-501)GTG>ATG	p.V167M		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	167	Lumenal (Potential).				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			ovary(3)	3						GCGGCAGCTGGTGTACGTGTT	0.667												
PLOD2	5352	broad.mit.edu	37	3	145794671	145794671	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:145794671C>T	uc003evs.1	-	14	2018	c.1512G>A	c.(1510-1512)ATG>ATA	p.M504I	PLOD2_uc003evq.1_Missense_Mutation_p.M185I|PLOD2_uc011bnm.1_Missense_Mutation_p.M470I|PLOD2_uc003evr.1_Missense_Mutation_p.M525I	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	504					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)	TAGAAATGTACATAAATACAC	0.284												
ZIC1	7545	broad.mit.edu	37	3	147128521	147128521	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:147128521C>A	uc003ewe.2	+	1	1341	c.622C>A	c.(622-624)CAC>AAC	p.H208N		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	208					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GGCCGCGCATCACGGCGCCGG	0.642												
GYG1	2992	broad.mit.edu	37	3	148744276	148744276	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:148744276G>A	uc003ewn.2	+	7	919	c.866G>A	c.(865-867)GGC>GAC	p.G289D	GYG1_uc003ewo.2_Intron|GYG1_uc003ewp.2_Intron	NM_004130	NP_004121	P46976	GLYG_HUMAN	glycogenin 1	289					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTCTCTTGTGGCTTCTGTAGA	0.373												
RNF13	11342	broad.mit.edu	37	3	149638970	149638970	+	Missense_Mutation	SNP	G	G	A	rs146279690		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:149638970G>A	uc003exn.3	+	9	1440	c.656G>A	c.(655-657)CGT>CAT	p.R219H	RNF13_uc003exp.3_Missense_Mutation_p.R219H|RNF13_uc010hvh.2_Missense_Mutation_p.R100H	NM_007282	NP_009213	O43567	RNF13_HUMAN	ring finger protein 13	219	Cytoplasmic (Potential).				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AACAGACTTCGTAAAGATCAA	0.299												
MED12L	116931	broad.mit.edu	37	3	151112591	151112591	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:151112591A>G	uc003eyp.2	+	37	5689	c.5651A>G	c.(5650-5652)AAG>AGG	p.K1884R	MED12L_uc011bnz.1_Missense_Mutation_p.K1744R	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1884	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATACAGATGAAGCTTCTGCAG	0.537												
IGSF10	285313	broad.mit.edu	37	3	151163551	151163551	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:151163551G>T	uc011bod.1	-	4	4218	c.4218C>A	c.(4216-4218)AGC>AGA	p.S1406R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1406					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACTGATTGTGCTTGAAATCC	0.428												
MBNL1	4154	broad.mit.edu	37	3	152150657	152150657	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:152150657C>A	uc003ezm.2	+	3	1286	c.497C>A	c.(496-498)CCT>CAT	p.P166H	MBNL1_uc003ezh.2_Missense_Mutation_p.P166H|MBNL1_uc003ezi.2_Missense_Mutation_p.P166H|MBNL1_uc003ezj.2_Missense_Mutation_p.P109H|MBNL1_uc003ezl.2_Missense_Mutation_p.P166H|MBNL1_uc003ezp.2_Missense_Mutation_p.P166H|MBNL1_uc003ezn.2_Intron|MBNL1_uc003ezo.2_Intron|MBNL1_uc010hvp.2_Missense_Mutation_p.P74H	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	166					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTCCCTGTACCTGCAGCTGCT	0.478												
MBNL1	4154	broad.mit.edu	37	3	152163159	152163159	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:152163159C>T	uc003ezm.2	+	4	1427	c.638C>T	c.(637-639)ACC>ATC	p.T213I	MBNL1_uc003ezh.2_Missense_Mutation_p.T213I|MBNL1_uc003ezi.2_Missense_Mutation_p.T213I|MBNL1_uc003ezj.2_Missense_Mutation_p.T156I|MBNL1_uc003ezl.2_Missense_Mutation_p.T213I|MBNL1_uc003ezp.2_Missense_Mutation_p.T213I|MBNL1_uc003ezn.2_Missense_Mutation_p.T145I|MBNL1_uc003ezo.2_Missense_Mutation_p.T145I|MBNL1_uc010hvp.2_Missense_Mutation_p.T121I	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	213					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATGATTGACACCAATGACAAC	0.458												
GMPS	8833	broad.mit.edu	37	3	155628964	155628964	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:155628964A>G	uc003faq.2	+	7	1117	c.782A>G	c.(781-783)AAC>AGC	p.N261S	GMPS_uc011bom.1_Missense_Mutation_p.N162S	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	261					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGTGCTTTGAACCAAGAACAA	0.403			T	MLL	AML							
TIPARP	25976	broad.mit.edu	37	3	156422795	156422795	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:156422795G>A	uc003fav.2	+	6	2097	c.1849G>A	c.(1849-1851)GAC>AAC	p.D617N	TIPARP_uc003faw.2_Missense_Mutation_p.D617N	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	617	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			tgtcaccagtgacctttatga	0.294												
LEKR1	389170	broad.mit.edu	37	3	156763369	156763369	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:156763369C>T	uc003fba.1	+	14	2332	c.997C>T	c.(997-999)CGC>TGC	p.R333C		NM_001004316	NP_001004316	Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	Error:Variant_position_missing_in_D3DNK7_after_alignment											0			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCCAACCTGCGCGGGGTGTC	0.552												
SCHIP1	29970	broad.mit.edu	37	3	159604040	159604040	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:159604040G>T	uc003fcs.1	+	4	989	c.923G>T	c.(922-924)AGT>ATT	p.S308I	SCHIP1_uc003fcq.1_Missense_Mutation_p.S384I|SCHIP1_uc003fcr.1_Missense_Mutation_p.S297I|SCHIP1_uc003fct.1_Missense_Mutation_p.S295I|SCHIP1_uc010hvz.1_Missense_Mutation_p.S268I|SCHIP1_uc003fcu.1_Missense_Mutation_p.S65I|SCHIP1_uc003fcv.1_Missense_Mutation_p.S81I	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1	308						cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GTCAACGACAGTGGCAGTGAT	0.478												
TRIM59	286827	broad.mit.edu	37	3	160156198	160156198	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:160156198G>A	uc003fdm.2	-	3	969	c.774C>T	c.(772-774)CGC>CGT	p.R258R	IFT80_uc003fda.2_RNA	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	tripartite motif-containing 59	258						integral to membrane|intracellular	zinc ion binding				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTACATGCTGGCGTACATCAT	0.378												
MECOM	2122	broad.mit.edu	37	3	168838978	168838978	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:168838978T>C	uc003ffi.3	-	6	703	c.434A>G	c.(433-435)AAC>AGC	p.N145S	MECOM_uc010hwk.1_Missense_Mutation_p.N168S|MECOM_uc003ffj.3_Missense_Mutation_p.N210S|MECOM_uc011bpi.1_Missense_Mutation_p.N146S|MECOM_uc003ffn.3_Missense_Mutation_p.N145S|MECOM_uc003ffk.2_Missense_Mutation_p.N145S|MECOM_uc003ffl.2_Missense_Mutation_p.N305S|MECOM_uc011bpj.1_Missense_Mutation_p.N333S|MECOM_uc011bpk.1_Missense_Mutation_p.N135S|MECOM_uc010hwn.2_Missense_Mutation_p.N333S	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	145	Interaction with MAPK9, SMAD3 and probably SUV39H1.|C2H2-type 4.				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						CCGCTGAAGGTTGCTAGGGTC	0.512												
TNIK	23043	broad.mit.edu	37	3	170819309	170819309	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:170819309C>A	uc003fhh.2	-	22	2865	c.2520G>T	c.(2518-2520)GAG>GAT	p.E840D	TNIK_uc003fhi.2_Missense_Mutation_p.E785D|TNIK_uc003fhj.2_Missense_Mutation_p.E811D|TNIK_uc003fhk.2_Missense_Mutation_p.E832D|TNIK_uc003fhl.2_Missense_Mutation_p.E756D|TNIK_uc003fhm.2_Missense_Mutation_p.E777D|TNIK_uc003fhn.2_Missense_Mutation_p.E803D|TNIK_uc003fho.2_Missense_Mutation_p.E748D|TNIK_uc003fhg.2_Missense_Mutation_p.E18D	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	840	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCTCCTCTTCCTCGCTACTTT	0.478												
KLHL24	54800	broad.mit.edu	37	3	183368716	183368716	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:183368716C>T	uc003flv.2	+	3	867	c.572C>T	c.(571-573)GCG>GTG	p.A191V	KLHL24_uc003flw.2_Missense_Mutation_p.A191V|KLHL24_uc003flx.2_Missense_Mutation_p.A191V	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	191	BACK.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAAAATTTTGCGTTACAGACT	0.368												
EIF2B5	8893	broad.mit.edu	37	3	183861930	183861930	+	Missense_Mutation	SNP	G	G	A	rs138772928	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:183861930G>A	uc003fmp.2	+	14	2277	c.1913G>A	c.(1912-1914)CGC>CAC	p.R638H	EIF2B5_uc003fmq.2_Missense_Mutation_p.R359H|EIF2B5_uc003fmr.2_Missense_Mutation_p.R46H	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	638	W2.				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	p.R638C(1)		ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TACATAAAGCGCGCAGCCGAC	0.478												
FAM131A	131408	broad.mit.edu	37	3	184062581	184062581	+	Silent	SNP	G	G	A	rs145026576	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:184062581G>A	uc003fog.2	+	3	2195	c.831G>A	c.(829-831)TCG>TCA	p.S277S	FAM131A_uc003fob.1_Silent_p.S185S|FAM131A_uc003foc.2_Silent_p.S223S|FAM131A_uc003foe.2_Silent_p.S223S	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	277						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)			TCTACAACTCGCCCCTCACAG	0.672												
CLCN2	1181	broad.mit.edu	37	3	184076787	184076787	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:184076787G>A	uc003foi.2	-	2	320	c.196C>T	c.(196-198)CGG>TGG	p.R66W	CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.R66W|CLCN2_uc011brl.1_Missense_Mutation_p.R66W|CLCN2_uc011brm.1_Missense_Mutation_p.R66W|CLCN2_uc011brn.1_Missense_Mutation_p.R66W|POLR2H_uc003foj.1_5'Flank	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	66	Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAACGGCTCCGTCCATATTCC	0.637												
EHHADH	1962	broad.mit.edu	37	3	184935990	184935990	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:184935990T>C	uc003fpf.2	-	5	529	c.502A>G	c.(502-504)ATT>GTT	p.I168V	EHHADH_uc011brs.1_Missense_Mutation_p.I72V	NM_001966	NP_001957	Q08426	ECHP_HUMAN	enoyl-Coenzyme A, hydratase/3-hydroxyacyl	168	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			ovary(3)	3	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TTATCTAGAATGCCCAGCTTG	0.323												
MAP3K13	9175	broad.mit.edu	37	3	185191365	185191365	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:185191365A>G	uc010hyf.2	+	12	2512	c.2246A>G	c.(2245-2247)GAG>GGG	p.E749G	MAP3K13_uc011brt.1_Missense_Mutation_p.E542G|MAP3K13_uc011bru.1_Missense_Mutation_p.E605G|MAP3K13_uc003fpi.2_Missense_Mutation_p.E749G|MAP3K13_uc010hyg.2_Missense_Mutation_p.E439G	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	749					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCCTCTGCTGAGCCAGTGGGG	0.547												
PYDC2	152138	broad.mit.edu	37	3	191179227	191179227	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:191179227T>C	uc011bso.1	+	1	276	c.276T>C	c.(274-276)TGT>TGC	p.C92C		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	92	DAPIN.					cytoplasm|nucleus					0						ATGAACACTGTGTGATGCCCC	0.512												
ATP13A5	344905	broad.mit.edu	37	3	192997203	192997203	+	Silent	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:192997203T>A	uc011bsq.1	-	28	3267	c.3267A>T	c.(3265-3267)ACA>ACT	p.T1089T		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1089	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GAATGAAAATTGTGAGGCCCA	0.363												
LSG1	55341	broad.mit.edu	37	3	194379824	194379824	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:194379824G>A	uc003fui.2	-	7	936	c.621C>T	c.(619-621)AAC>AAT	p.N207N		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	207					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TCAGAATGACGTTCTCCTTAT	0.403												
APOD	347	broad.mit.edu	37	3	195306281	195306281	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:195306281C>T	uc003fur.2	-	2	414	c.52G>A	c.(52-54)GCA>ACA	p.A18T	APOD_uc011bsx.1_Missense_Mutation_p.A18T	NM_001647	NP_001638	P05090	APOD_HUMAN	apolipoprotein D precursor	18					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			ovary(2)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TGTCCCTCTGCCGCACCGAAG	0.567												
MUC4	4585	broad.mit.edu	37	3	195484161	195484161	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:195484161G>A	uc011bto.1	-	19	15101	c.14641C>T	c.(14641-14643)CCA>TCA	p.P4881S	MUC4_uc003fuz.2_Missense_Mutation_p.P607S|MUC4_uc003fva.2_Missense_Mutation_p.P489S|MUC4_uc003fvb.2_Missense_Mutation_p.P525S|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.P525S|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.P489S|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.P573S|MUC4_uc011bti.1_Missense_Mutation_p.P573S|MUC4_uc011btj.1_Missense_Mutation_p.P750S|MUC4_uc011btk.1_Missense_Mutation_p.P489S|MUC4_uc011btl.1_Missense_Mutation_p.P518S|MUC4_uc011btm.1_Missense_Mutation_p.P698S|MUC4_uc011btn.1_Missense_Mutation_p.P489S|MUC4_uc003fvo.2_Missense_Mutation_p.P773S|MUC4_uc003fvp.2_Missense_Mutation_p.P722S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1766					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)		AGAGTGAATGGCTCCAGCGAC	0.557												
MUC4	4585	broad.mit.edu	37	3	195516927	195516927	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:195516927T>C	uc011bto.1	-	2	1984	c.1524A>G	c.(1522-1524)ACA>ACG	p.T508T	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.T390T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	513					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)		CACCTGTTGATGTTGAGGGCA	0.478												
TFRC	7037	broad.mit.edu	37	3	195792355	195792355	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:195792355A>T	uc003fvz.3	-	10	1440	c.1157T>A	c.(1156-1158)ATT>AAT	p.I386N	TFRC_uc003fwa.3_Missense_Mutation_p.I386N|TFRC_uc010hzy.2_Missense_Mutation_p.I305N|TFRC_uc011btr.1_Missense_Mutation_p.I104N	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	386	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		GATGTTAAGAATTTTTATCTC	0.318			T	BCL6	NHL							
LRRC33	375387	broad.mit.edu	37	3	196386689	196386689	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:196386689G>A	uc003fwv.2	+	3	279	c.175G>A	c.(175-177)GCC>ACC	p.A59T		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	59	Extracellular (Potential).|LRR 1.					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)		CCCGCCCCACGCCCGGATGCT	0.667												
LRRC33	375387	broad.mit.edu	37	3	196387398	196387398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:196387398C>A	uc003fwv.2	+	3	988	c.884C>A	c.(883-885)TCG>TAG	p.S295*		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	295	Extracellular (Potential).					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)		AACACCTCGTCGCCGAGGGAG	0.612												
MFI2	4241	broad.mit.edu	37	3	196743193	196743193	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:196743193C>A	uc003fxk.3	-	8	1061	c.948G>T	c.(946-948)GAG>GAT	p.E316D		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	316	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GGCCATAGGCCTCAGAGCTGA	0.577												
DLG1	1739	broad.mit.edu	37	3	196786868	196786868	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:196786868C>T	uc003fxo.3	-	24	2598	c.2408G>A	c.(2407-2409)GGC>GAC	p.G803D	DLG1_uc011bub.1_Missense_Mutation_p.G699D|DLG1_uc011buc.1_Missense_Mutation_p.G687D|DLG1_uc011bud.1_Missense_Mutation_p.G486D|DLG1_uc003fxn.3_Missense_Mutation_p.G825D|DLG1_uc011bue.1_Missense_Mutation_p.G791D|DLG1_uc010ial.2_Missense_Mutation_p.G803D	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	803	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ACAGTGTTTGCCCTAAAATAA	0.348												
BDH1	622	broad.mit.edu	37	3	197260430	197260430	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:197260430C>T	uc003fxr.2	-	4	488	c.86G>A	c.(85-87)CGC>CAC	p.R29H	BDH1_uc003fxs.2_Missense_Mutation_p.R29H|BDH1_uc003fxt.2_5'UTR|BDH1_uc003fxu.2_Missense_Mutation_p.R29H	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	29					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CAATAGTGGGCGTCTGCAAGA	0.592												
PCGF3	10336	broad.mit.edu	37	4	737367	737367	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:737367G>A	uc011bva.1	+	8	843	c.368G>A	c.(367-369)CGG>CAG	p.R123Q	PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Missense_Mutation_p.R123Q|PCGF3_uc010ibh.2_Missense_Mutation_p.R123Q|PCGF3_uc003gbg.1_Missense_Mutation_p.R89Q|PCGF3_uc003gbh.2_Missense_Mutation_p.R89Q	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0						GATTCCCATCGGAATGGTGAG	0.572												
GAK	2580	broad.mit.edu	37	4	871470	871470	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:871470G>A	uc003gbm.3	-	16	1988	c.1789C>T	c.(1789-1791)CCC>TCC	p.P597S	GAK_uc003gbn.3_Missense_Mutation_p.P518S|GAK_uc010ibk.1_Missense_Mutation_p.P491S|GAK_uc003gbl.3_Missense_Mutation_p.P461S	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	597	C2 tensin-type.				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)		TCGCAGAAGGGCCTGCAGCCG	0.667												
IDUA	3425	broad.mit.edu	37	4	995271	995271	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:995271C>T	uc003gby.2	+	5	597	c.509C>T	c.(508-510)GCG>GTG	p.A170V	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.A123V	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	170					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TACGGACTGGCGCATGTTTCC	0.587												
IDUA	3425	broad.mit.edu	37	4	996842	996842	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:996842G>A	uc003gby.2	+	10	1509	c.1421G>A	c.(1420-1422)CGC>CAC	p.R474H	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.R496H	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	474					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TACGTCACGCGCTACCTGGAC	0.751												
WHSC1	7468	broad.mit.edu	37	4	1957837	1957837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:1957837C>T	uc003gdz.3	+	15	2979	c.2803C>T	c.(2803-2805)CGA>TGA	p.R935*	WHSC1_uc003geb.3_Nonsense_Mutation_p.R935*|WHSC1_uc003gec.3_Nonsense_Mutation_p.R935*|WHSC1_uc003ged.3_Nonsense_Mutation_p.R935*|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Nonsense_Mutation_p.R154*|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Nonsense_Mutation_p.R283*	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	935	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCATCAGGCGCGAGTGTTCCC	0.488			T	IGH@	MM							
WHSC1	7468	broad.mit.edu	37	4	1977117	1977117	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:1977117A>G	uc003gdz.3	+	20	3787	c.3611A>G	c.(3610-3612)GAT>GGT	p.D1204G	WHSC1_uc003geb.3_Missense_Mutation_p.D1204G|WHSC1_uc003gec.3_Missense_Mutation_p.D1204G|WHSC1_uc003ged.3_Missense_Mutation_p.D1204G|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.D423G|WHSC1_uc011bvh.1_Missense_Mutation_p.D265G|WHSC1_uc010icf.2_Missense_Mutation_p.D552G	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1204					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TTCCTCGGGGATAGACCAAAG	0.567			T	IGH@	MM							
NOP14	8602	broad.mit.edu	37	4	2949328	2949328	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:2949328C>T	uc003ggj.1	-	10	1496	c.1424G>A	c.(1423-1425)GGC>GAC	p.G475D	C4orf10_uc003gge.1_RNA|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.G221D|NOP14_uc003ggk.3_Missense_Mutation_p.G475D|NOP14_uc003ggl.2_Missense_Mutation_p.G475D	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	475					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						CAAAAGAAAGCCAAACAGTTT	0.443												
HTT	3064	broad.mit.edu	37	4	3214391	3214391	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:3214391T>C	uc011bvq.1	+	50	6880	c.6735T>C	c.(6733-6735)CCT>CCC	p.P2245P		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2243					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCTTCCTCCTGAGAAAGAGA	0.592												
RGS12	6002	broad.mit.edu	37	4	3319606	3319606	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:3319606G>A	uc003ggw.2	+	2	2613	c.1709G>A	c.(1708-1710)GGC>GAC	p.G570D	RGS12_uc003ggu.2_Missense_Mutation_p.G570D|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.G570D|RGS12_uc003ggx.1_Missense_Mutation_p.G570D	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	570						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCAACTGCGGCACACTGCCC	0.652												
EVC2	132884	broad.mit.edu	37	4	5630345	5630345	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:5630345C>T	uc003gij.2	-	12	1881	c.1827G>A	c.(1825-1827)GTG>GTA	p.V609V	EVC2_uc011bwb.1_Silent_p.V49V|EVC2_uc003gik.2_Silent_p.V529V	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	609						integral to membrane				large_intestine(3)|ovary(2)	5						GAAGGCCCTGCACACGGGTCT	0.488												
EVC2	132884	broad.mit.edu	37	4	5642272	5642272	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:5642272G>A	uc003gij.2	-	10	1493	c.1439C>T	c.(1438-1440)GCA>GTA	p.A480V	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.A400V	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	480	Potential.					integral to membrane				large_intestine(3)|ovary(2)	5						CAACTCTTCTGCTTCCTCCAT	0.468												
JAKMIP1	152789	broad.mit.edu	37	4	6083412	6083412	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:6083412T>G	uc003giu.3	-	6	1301	c.1025A>C	c.(1024-1026)AAG>ACG	p.K342T	JAKMIP1_uc010idb.1_Missense_Mutation_p.K342T|JAKMIP1_uc010idc.1_Missense_Mutation_p.K177T|JAKMIP1_uc010idd.1_Missense_Mutation_p.K342T|JAKMIP1_uc011bwc.1_Missense_Mutation_p.K177T|JAKMIP1_uc003giv.3_Missense_Mutation_p.K342T|JAKMIP1_uc010ide.2_Missense_Mutation_p.K342T	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	342	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						ATCCTCATTCTTCTTGTTCAT	0.527												
KIAA0232	9778	broad.mit.edu	37	4	6862629	6862629	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:6862629T>C	uc003gjr.3	+	7	983	c.520T>C	c.(520-522)TAC>CAC	p.Y174H	KIAA0232_uc003gjq.3_Missense_Mutation_p.Y174H	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	174							ATP binding			ovary(2)	2						GTTTTTCAGGTACTATGAAGC	0.358												
SORCS2	57537	broad.mit.edu	37	4	7726880	7726880	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:7726880G>A	uc003gkb.3	+	20	2612	c.2612_splice	c.e20-1	p.S871_splice	SORCS2_uc011bwi.1_Splice_Site_p.S699_splice	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor							integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						GGTCCCCACAGCCCCCCTGCA	0.483												
SORCS2	57537	broad.mit.edu	37	4	7728581	7728581	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:7728581C>T	uc003gkb.3	+	21	2820	c.2820C>T	c.(2818-2820)GCC>GCT	p.A940A	SORCS2_uc011bwi.1_Silent_p.A768A	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	940	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						CGGTGCAGGCCGCCTGTGGGA	0.632												
WDR1	9948	broad.mit.edu	37	4	10080565	10080565	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:10080565C>T	uc003gmf.2	-	12	1628	c.1345G>A	c.(1345-1347)GAA>AAA	p.E449K	WDR1_uc003gmg.2_Missense_Mutation_p.E309K|WDR1_uc010idm.2_RNA|hsa-mir-3138|MI0014161_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	449	WD 8.				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GCCACAACTTCGGGCTCGTAG	0.612												
CPEB2	132864	broad.mit.edu	37	4	15005744	15005744	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:15005744G>T	uc003gni.1	+	1	223	c.136G>T	c.(136-138)GGC>TGC	p.G46C	uc003gng.3_5'Flank|uc003gnh.1_5'Flank|CPEB2_uc003gnj.1_Missense_Mutation_p.G46C|CPEB2_uc003gnk.1_Missense_Mutation_p.G46C|CPEB2_uc003gnl.1_Missense_Mutation_p.G46C|CPEB2_uc003gnm.1_Missense_Mutation_p.G46C|CPEB2_uc003gnn.1_Missense_Mutation_p.G46C	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	46	Pro-rich.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						GACGAgcggcggcggcggcgg	0.527												
KCNIP4	80333	broad.mit.edu	37	4	20734314	20734314	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:20734314G>A	uc003gqe.2	-	6	665	c.581C>T	c.(580-582)ACA>ATA	p.T194I	KCNIP4_uc003gqf.1_Missense_Mutation_p.T190I|KCNIP4_uc003gqg.1_Missense_Mutation_p.T149I|KCNIP4_uc003gqh.1_Missense_Mutation_p.T186I|KCNIP4_uc003gqi.1_Missense_Mutation_p.T149I|PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpw.2_Intron|KCNIP4_uc010iel.2_Missense_Mutation_p.T191I|KCNIP4_uc003gqd.3_Missense_Mutation_p.T174I	NM_147182	NP_671711	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4 isoform 3	211	EF-hand 4.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)				CTGAAAAAATGTTTCAACGTG	0.373												
GPR125	166647	broad.mit.edu	37	4	22390718	22390718	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:22390718C>T	uc003gqm.1	-	18	2981	c.2716G>A	c.(2716-2718)GCA>ACA	p.A906T	GPR125_uc010ieo.1_Missense_Mutation_p.A762T|GPR125_uc003gql.1_Missense_Mutation_p.A33T	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	906	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				CACTAGGGTGCGTTTGGCCGA	0.408												
SOD3	6649	broad.mit.edu	37	4	24801296	24801296	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:24801296G>A	uc003gqz.2	+	2	358	c.153G>A	c.(151-153)CAG>CAA	p.Q51Q	SOD3_uc003gqy.1_RNA	NM_003102	NP_003093	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular precursor	51					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding				0		Breast(46;0.0503)				AGGTCATGCAGCGGCGGGACG	0.716												
LGI2	55203	broad.mit.edu	37	4	25005411	25005411	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:25005411G>T	uc003grf.2	-	8	1399	c.1300C>A	c.(1300-1302)CTT>ATT	p.L434I		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	434	EAR 5.					extracellular region					0		Breast(46;0.173)				GTAAGGGAAAGGTAGAGGGTA	0.532												
LGI2	55203	broad.mit.edu	37	4	25005661	25005661	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:25005661C>A	uc003grf.2	-	8	1149	c.1050G>T	c.(1048-1050)CTG>CTT	p.L350L		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	350	EAR 3.					extracellular region					0		Breast(46;0.173)				AAACTGTGGACAGACCAGCCT	0.473												
TBC1D19	55296	broad.mit.edu	37	4	26741507	26741507	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:26741507A>G	uc003gsf.3	+	17	1409	c.1139A>G	c.(1138-1140)TAC>TGC	p.Y380C	TBC1D19_uc010iew.2_Missense_Mutation_p.Y380C|TBC1D19_uc011bxu.1_Missense_Mutation_p.Y315C	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	380	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)	1		Breast(46;0.0503)				TGTTTTCTATACCATGAACCT	0.294												
TBC1D19	55296	broad.mit.edu	37	4	26750039	26750039	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:26750039C>T	uc003gsf.3	+	19	1596	c.1326C>T	c.(1324-1326)CGC>CGT	p.R442R	TBC1D19_uc010iew.2_Silent_p.R442R|TBC1D19_uc011bxu.1_Silent_p.R377R	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	442	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)	1		Breast(46;0.0503)				ATAGACTTCGCATATCATTTA	0.348												
PCDH7	5099	broad.mit.edu	37	4	30724189	30724189	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:30724189G>A	uc003gsk.1	+	1	2153	c.1145G>A	c.(1144-1146)CGC>CAC	p.R382H	PCDH7_uc011bxw.1_Missense_Mutation_p.R335H|PCDH7_uc011bxx.1_Missense_Mutation_p.R382H	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	382	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						AACCAGCTGCGCTTCACGGTC	0.667												
RFC1	5981	broad.mit.edu	37	4	39297317	39297317	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:39297317G>T	uc003gty.1	-	22	3008	c.2874C>A	c.(2872-2874)ACC>ACA	p.T958T	RFC1_uc003gtx.1_Silent_p.T957T	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	958					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						AGCTTGGGAAGGTGGGAAACT	0.478												
KLB	152831	broad.mit.edu	37	4	39435905	39435905	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:39435905G>T	uc003gua.2	+	2	998	c.901G>T	c.(901-903)GGA>TGA	p.G301*	KLB_uc011byj.1_Nonsense_Mutation_p.G301*	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	301	Extracellular (Potential).|Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						GATCACGTTGGGATCTCATTG	0.423												
APBB2	323	broad.mit.edu	37	4	40892459	40892459	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:40892459T>C	uc003gvl.2	-	12	2078	c.1448A>G	c.(1447-1449)GAC>GGC	p.D483G	APBB2_uc010ifu.2_Missense_Mutation_p.D55G|APBB2_uc003gvm.2_Missense_Mutation_p.D462G|APBB2_uc003gvn.2_Missense_Mutation_p.D484G|APBB2_uc011byt.1_Missense_Mutation_p.D445G	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	483	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						GTCCATGGGGTCCACCAGGCT	0.617												
SLC30A9	10463	broad.mit.edu	37	4	42072624	42072624	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:42072624A>T	uc003gwl.2	+	15	1480	c.1334A>T	c.(1333-1335)AAC>ATC	p.N445I	SLC30A9_uc011byx.1_Missense_Mutation_p.N205I	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter),	445					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3						ATCTACACTAACACAGAAGCA	0.478												
BEND4	389206	broad.mit.edu	37	4	42122137	42122137	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:42122137C>T	uc003gwn.2	-	5	1901	c.1321G>A	c.(1321-1323)GTG>ATG	p.V441M	BEND4_uc003gwm.2_Intron|BEND4_uc011byy.1_Missense_Mutation_p.V441M	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	441	BEN.										0						CCTGACTGCACTGACCTTTTC	0.498												
BEND4	389206	broad.mit.edu	37	4	42122160	42122160	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:42122160C>T	uc003gwn.2	-	5	1878	c.1298G>A	c.(1297-1299)GGC>GAC	p.G433D	BEND4_uc003gwm.2_Missense_Mutation_p.G433D|BEND4_uc011byy.1_Missense_Mutation_p.G433D	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	BEN domain containing 4 isoform a	433	BEN.										0						TTTCCCAAGGCCGCATGAGTA	0.488												
KCTD8	386617	broad.mit.edu	37	4	44450512	44450512	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:44450512C>T	uc003gwu.2	-	1	313	c.29G>A	c.(28-30)GGC>GAC	p.G10D		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	10						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						GATGGTGCTGCCGCCGCTGCC	0.567										HNSCC(17;0.042)		
GABRG1	2565	broad.mit.edu	37	4	46043217	46043217	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:46043217C>T	uc003gxb.2	-	9	1338	c.1186G>A	c.(1186-1188)GTG>ATG	p.V396M		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	396	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCTTGCGGCACAGAAATATTA	0.408												
COMMD8	54951	broad.mit.edu	37	4	47458691	47458691	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:47458691C>T	uc003gxi.2	-	3	286	c.278G>A	c.(277-279)TGC>TAC	p.C93Y		NM_017845	NP_060315	Q9NX08	COMD8_HUMAN	COMM domain containing 8	93							protein binding				0						ACTTTTCACGCATTTCATGAT	0.348												
CNGA1	1259	broad.mit.edu	37	4	47939658	47939658	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:47939658A>T	uc003gxt.3	-	11	1119	c.853T>A	c.(853-855)TTC>ATC	p.F285I	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.F354I	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	285	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						GTTCTCTGGAAGAACTCAAAC	0.373												
GSX2	170825	broad.mit.edu	37	4	54967834	54967834	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:54967834A>G	uc010igp.1	+	2	924	c.660A>G	c.(658-660)GAA>GAG	p.E220E	PDGFRA_uc003haa.2_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	GS homeobox 2	220	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TGGAGAGAGAATTCTCTTCCA	0.557												
CEP135	9662	broad.mit.edu	37	4	56877592	56877592	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:56877592A>G	uc003hbi.2	+	20	2754	c.2520A>G	c.(2518-2520)GAA>GAG	p.E840E	CEP135_uc003hbj.2_Silent_p.E546E	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	840	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					TCTCATTGGAATTGGAAGCAG	0.328												
EPHA5	2044	broad.mit.edu	37	4	66467570	66467570	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:66467570G>A	uc003hcy.2	-	3	892	c.699C>T	c.(697-699)TGC>TGT	p.C233C	EPHA5_uc003hcx.2_Silent_p.C164C|EPHA5_uc003hcz.2_Silent_p.C233C|EPHA5_uc011cah.1_Silent_p.C233C|EPHA5_uc011cai.1_Silent_p.C233C|EPHA5_uc003hda.2_Silent_p.C233C	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	233	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						CCACAGAAGGGCATTTTTTAT	0.453										TSP Lung(17;0.13)		
UGT2B28	54490	broad.mit.edu	37	4	70146646	70146646	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:70146646C>G	uc003hej.2	+	1	430	c.428C>G	c.(427-429)TCA>TGA	p.S143*	UGT2B28_uc010ihr.2_Nonsense_Mutation_p.S143*	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	143					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	CTACAAGAGTCAAGATTTGAC	0.363												
GC	2638	broad.mit.edu	37	4	72649718	72649718	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:72649718T>C	uc003hge.2	-	1	171	c.18A>G	c.(16-18)GTA>GTG	p.V6V	GC_uc010iie.2_Silent_p.V6V|GC_uc010iif.2_Silent_p.V25V	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	6					hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CAAGCAGTAGTACCAGGACCC	0.393												
NPFFR2	10886	broad.mit.edu	37	4	72897894	72897894	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:72897894C>T	uc003hgg.2	+	1	374	c.276C>T	c.(274-276)GCC>GCT	p.A92A	NPFFR2_uc010iig.1_5'UTR	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	92	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TGGTTCCTGCCGCCGACAGGG	0.647												
NPFFR2	10886	broad.mit.edu	37	4	73003815	73003815	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:73003815C>T	uc003hgg.2	+	3	791	c.693C>T	c.(691-693)GTC>GTT	p.V231V	NPFFR2_uc010iig.1_Silent_p.V13V|NPFFR2_uc003hgi.2_Silent_p.V132V|NPFFR2_uc003hgh.2_Silent_p.V129V	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	231	Helical; Name=3; (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GAATATCTGTCGCAGCTTCAG	0.403												
AFM	173	broad.mit.edu	37	4	74354469	74354469	+	Missense_Mutation	SNP	G	G	A	rs149021212		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:74354469G>A	uc003hhb.2	+	7	867	c.836G>A	c.(835-837)CGT>CAT	p.R279H		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	279	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)			CAGTGCATCCGTGACACGGTG	0.363												
PTPN13	5783	broad.mit.edu	37	4	87690963	87690963	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:87690963C>T	uc003hpz.2	+	29	5011	c.4531C>T	c.(4531-4533)CTA>TTA	p.L1511L	PTPN13_uc003hpy.2_Silent_p.L1516L|PTPN13_uc003hqa.2_Silent_p.L1492L|PTPN13_uc003hqb.2_Silent_p.L1320L|PTPN13_uc003hqc.1_5'UTR	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1511	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TAGCTCAGGTCTAGGATTCAG	0.323												
AFF1	4299	broad.mit.edu	37	4	88026993	88026993	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:88026993C>G	uc003hqj.3	+	9	1758	c.1351C>G	c.(1351-1353)CCA>GCA	p.P451A	AFF1_uc011ccz.1_Missense_Mutation_p.P458A|AFF1_uc003hqk.3_Missense_Mutation_p.P451A|AFF1_uc011cda.1_Missense_Mutation_p.P89A	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	451						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ATCTGCACCTCCAAGGTACCG	0.413												
AFF1	4299	broad.mit.edu	37	4	88047456	88047456	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:88047456G>T	uc003hqj.3	+	13	3165	c.2758G>T	c.(2758-2760)GGG>TGG	p.G920W	AFF1_uc011ccz.1_Missense_Mutation_p.G927W|AFF1_uc003hqk.3_Missense_Mutation_p.G920W|AFF1_uc011cda.1_Missense_Mutation_p.G558W	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	920						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAGAGTAGAGGGGAAGGGCTC	0.557												
NUDT9	53343	broad.mit.edu	37	4	88375609	88375609	+	Splice_Site	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:88375609T>C	uc003hqq.2	+	7	1197	c.874_splice	c.e7+2	p.G292_splice	NUDT9_uc003hqr.2_Splice_Site_p.G242_splice|NUDT9_uc010ikl.2_Splice_Site_p.G260_splice	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN	nudix-type motif 9 isoform a							mitochondrion	ADP-ribose diphosphatase activity				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		ACGAAACAGGTAACTTTATAT	0.348												
ADH1C	126	broad.mit.edu	37	4	100268938	100268938	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:100268938C>A	uc003huu.2	-	2	169	c.84G>T	c.(82-84)GAG>GAT	p.E28D		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	28					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)	GAGGTGCAACCTCTACCTCCT	0.348									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			
NHEDC2	133308	broad.mit.edu	37	4	103964539	103964539	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:103964539T>C	uc003hwx.3	-	9	1932	c.1060A>G	c.(1060-1062)AGT>GGT	p.S354G	NHEDC2_uc010iln.1_Missense_Mutation_p.S206G|NHEDC2_uc003hwy.2_Missense_Mutation_p.S354G|NHEDC2_uc011cew.1_Missense_Mutation_p.S297G|NHEDC2_uc011cex.1_Missense_Mutation_p.S297G	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Na+/H+ exchanger domain containing 2	354	Helical; (Potential).				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity				0				OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)		AAATGCACACTGCTGAACACA	0.433												
CENPE	1062	broad.mit.edu	37	4	104067058	104067058	+	Silent	SNP	T	T	C	rs114566933	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:104067058T>C	uc003hxb.1	-	30	4431	c.4341A>G	c.(4339-4341)CTA>CTG	p.L1447L	CENPE_uc003hxc.1_Silent_p.L1422L	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1447	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GCAGCCTCTGTAGGTCATCTT	0.358												
SGMS2	166929	broad.mit.edu	37	4	108831653	108831653	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:108831653T>C	uc003hyl.3	+	7	1597	c.1042T>C	c.(1042-1044)TGC>CGC	p.C348R	uc003hym.1_Intron|SGMS2_uc003hyn.2_Missense_Mutation_p.C348R|SGMS2_uc003hyo.2_Missense_Mutation_p.C348R	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	348	Cytoplasmic (Potential).			C->A: Strongly decreases palmitoylation; when associated with A-343. Abolishes palmitoylation and dramatically reduces plasma membrane localization; when associated with 331-A-A-332 and A-343.	sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			lung(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	CAAATCATCATGCAAAAAGTA	0.433												
GAR1	54433	broad.mit.edu	37	4	110743599	110743599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:110743599C>T	uc003hzt.2	+	5	833	c.526C>T	c.(526-528)CGA>TGA	p.R176*	GAR1_uc003hzu.2_Nonsense_Mutation_p.R176*|GAR1_uc010imi.2_Nonsense_Mutation_p.R176*	NM_018983	NP_061856	Q9NY12	GAR1_HUMAN	nucleolar protein family A, member 1	176	RGG-box 2.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding				0						caggggaggccgaggaggagg	0.269												
ENPEP	2028	broad.mit.edu	37	4	111434597	111434597	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:111434597A>G	uc003iab.3	+	7	1677	c.1335A>G	c.(1333-1335)GTA>GTG	p.V445V		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	445	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTGAAGATGTATTACCTGTTC	0.323												
NDST3	9348	broad.mit.edu	37	4	119154278	119154278	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:119154278G>T	uc003ibx.2	+	9	2334	c.1931G>T	c.(1930-1932)AGG>ATG	p.R644M	NDST3_uc011cgf.1_Intron	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	644	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						AACTACCACAGGGGGATTGAT	0.353												
TRPC3	7222	broad.mit.edu	37	4	122854138	122854138	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:122854138C>T	uc003ieg.2	-	2	349	c.275G>A	c.(274-276)CGC>CAC	p.R92H	TRPC3_uc010inr.2_Missense_Mutation_p.R19H|TRPC3_uc003ief.2_Missense_Mutation_p.R19H|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	7	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						GACAGCCTGGCGCCGGCCCTT	0.602												
BBS12	166379	broad.mit.edu	37	4	123664512	123664512	+	Missense_Mutation	SNP	G	G	A	rs145489987	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:123664512G>A	uc003ieu.2	+	2	1658	c.1465G>A	c.(1465-1467)GCA>ACA	p.A489T		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	489					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						CAACAGAATCGCAATCTTATT	0.438									Bardet-Biedl_syndrome			
ANKRD50	57182	broad.mit.edu	37	4	125590318	125590318	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:125590318T>C	uc003ifg.3	-	3	4380	c.4114A>G	c.(4114-4116)AAC>GAC	p.N1372D	ANKRD50_uc011cgo.1_Missense_Mutation_p.N1193D|ANKRD50_uc010inw.2_Missense_Mutation_p.N1372D	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1372										central_nervous_system(1)	1						AAAACCTGGTTGCTCTGAAGA	0.418												
FAT4	79633	broad.mit.edu	37	4	126238356	126238356	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:126238356G>A	uc003ifj.3	+	1	790	c.790G>A	c.(790-792)GTT>ATT	p.V264I		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	264	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TGAGGACGCGGTTGTGGGTTC	0.642											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAT4	79633	broad.mit.edu	37	4	126238440	126238440	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:126238440G>T	uc003ifj.3	+	1	874	c.874G>T	c.(874-876)GAG>TAG	p.E292*		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	292	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CCTGCAGGACGAGGGGACCCC	0.672											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAT4	79633	broad.mit.edu	37	4	126239547	126239547	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:126239547G>A	uc003ifj.3	+	1	1981	c.1981G>A	c.(1981-1983)GCC>ACC	p.A661T		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	661	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GTTGGTTCTGGCCACAGATCT	0.512												
FAT4	79633	broad.mit.edu	37	4	126389897	126389897	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:126389897G>T	uc003ifj.3	+	11	12130	c.12130G>T	c.(12130-12132)GGT>TGT	p.G4044C	FAT4_uc011cgp.1_Missense_Mutation_p.G2307C|FAT4_uc003ifi.1_Missense_Mutation_p.G1522C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4044	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTTAGGCAGTGGTACATATAA	0.408												
HSPA4L	22824	broad.mit.edu	37	4	128753955	128753955	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:128753955A>G	uc003ifm.2	+	19	2699	c.2446A>G	c.(2446-2448)ACT>GCT	p.T816A	HSPA4L_uc011cgr.1_Missense_Mutation_p.T783A	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	816					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						ACAGAGTGGAACTGAAACTAA	0.388												
LARP1B	55132	broad.mit.edu	37	4	129012266	129012266	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:129012266C>T	uc003iga.2	+	6	600	c.469C>T	c.(469-471)CGG>TGG	p.R157W	LARP1B_uc003ifw.1_Missense_Mutation_p.R110W|LARP1B_uc003ifx.2_Missense_Mutation_p.R157W|LARP1B_uc003ify.2_Missense_Mutation_p.R157W|LARP1B_uc003ifz.1_Missense_Mutation_p.R157W	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	157	Arg-rich.						RNA binding				0						AGGCCGAGGACGGGGAAGAGG	0.413												
PCDH10	57575	broad.mit.edu	37	4	134073774	134073774	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:134073774C>A	uc003iha.2	+	1	3305	c.2479C>A	c.(2479-2481)CCT>ACT	p.P827T	PCDH10_uc003igz.2_Missense_Mutation_p.P827T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	827	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		ATGCCTGACCCCTGAGTCCGC	0.597												
TBC1D9	23158	broad.mit.edu	37	4	141600232	141600232	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:141600232T>C	uc010ioj.2	-	5	987	c.715A>G	c.(715-717)AAC>GAC	p.N239D		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	239						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AAGGTCTCGTTGATGTTGAGG	0.468												
OTUD4	54726	broad.mit.edu	37	4	146059097	146059097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:146059097G>A	uc003ika.3	-	21	2773	c.2635C>T	c.(2635-2637)CGA>TGA	p.R879*	OTUD4_uc003ijz.3_Nonsense_Mutation_p.R878*	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	943							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					TCTGCCTTTCGTGTCTGGGAA	0.522												
MAB21L2	10586	broad.mit.edu	37	4	151504767	151504767	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:151504767G>A	uc003ilw.2	+	1	1691	c.586G>A	c.(586-588)GGC>AGC	p.G196S	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	196					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CCCTTGGCCCGGCCCCAATCG	0.647												
PRSS48	345062	broad.mit.edu	37	4	152203364	152203364	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:152203364C>T	uc011cif.1	+	3	280	c.280C>T	c.(280-282)CGT>TGT	p.R94C	PRSS48_uc011cig.1_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	epidermis-specific serine protease-like protein	94	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)	1						CTCAAGGAAACGTGTGAAGTA	0.473												
DCHS2	54798	broad.mit.edu	37	4	155226011	155226011	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:155226011T>C	uc003inw.2	-	17	4050	c.4050A>G	c.(4048-4050)GGA>GGG	p.G1350G		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1350	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGAAGGGAATCCCCCATCTC	0.413												
DCHS2	54798	broad.mit.edu	37	4	155254535	155254535	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:155254535G>A	uc003inw.2	-	9	1328	c.1328C>T	c.(1327-1329)ACG>ATG	p.T443M	DCHS2_uc003inx.2_Missense_Mutation_p.T942M	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	443	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CACGGGCTGCGTCTCGTGATC	0.587												
FGA	2243	broad.mit.edu	37	4	155507817	155507817	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:155507817G>A	uc003iod.1	-	5	822	c.764C>T	c.(763-765)CCG>CTG	p.P255L	FGA_uc003ioe.1_Missense_Mutation_p.P255L|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	255	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTCATCTGCGGCATGTCTGT	0.493												
ACCN5	51802	broad.mit.edu	37	4	156759985	156759985	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:156759985C>A	uc003ipe.1	-	7	1093	c.1046G>T	c.(1045-1047)AGC>ATC	p.S349I		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	amiloride-sensitive cation channel 5,	349	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)		AGAAACACAGCTGAAGTACTT	0.279												
RAPGEF2	9693	broad.mit.edu	37	4	160271353	160271353	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:160271353T>C	uc003iqg.3	+	20	3604	c.3294T>C	c.(3292-3294)CGT>CGC	p.R1098R		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1098					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTTTGGAACGTCACAAGAAAC	0.338												
ODZ3	55714	broad.mit.edu	37	4	183664473	183664473	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:183664473C>T	uc003ivd.1	+	18	3567	c.3530C>T	c.(3529-3531)GCG>GTG	p.A1177V	ODZ3_uc003ive.1_Missense_Mutation_p.A583V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1177	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)		GCCCCAGTGGCGCTAGCTTGT	0.517												
CLDN22	53842	broad.mit.edu	37	4	184241061	184241061	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:184241061C>T	uc010isa.1	-	1	867	c.311G>A	c.(310-312)TGT>TAT	p.C104Y	WWC2_uc010irx.2_3'UTR|WWC2_uc003ivk.3_3'UTR|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_3'UTR|WWC2_uc003ivn.3_3'UTR|WWC2_uc010irz.2_3'UTR|WWC2_uc003ivo.3_3'UTR	NM_001111319	NP_001104789	Q8N7P3	CLD22_HUMAN	claudin 22	104	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AATTCTCAAACAGTCCAGGCC	0.552												
ING2	3622	broad.mit.edu	37	4	184432040	184432040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:184432040G>T	uc003ivs.1	+	2	907	c.778G>T	c.(778-780)GGA>TGA	p.G260*	ING2_uc011ckk.1_Nonsense_Mutation_p.G220*	NM_001564	NP_001555	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	260	PHD-type.				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding			ovary(1)	1		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAAGTGCAGGGGAGATAATGA	0.373												
STOX2	56977	broad.mit.edu	37	4	184931902	184931902	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:184931902C>T	uc003ivz.1	+	3	3346	c.1911C>T	c.(1909-1911)TCC>TCT	p.S637S	STOX2_uc003iwa.1_Silent_p.S326S	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	637					embryo development|maternal placenta development						0		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAAAGCTCTCCCCTTCTGATA	0.602												
IRF2	3660	broad.mit.edu	37	4	185309954	185309954	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:185309954C>T	uc003iwf.3	-	9	1208	c.1008G>A	c.(1006-1008)AAG>AAA	p.K336K		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	336					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CCGATGTTTTCTTGATGACGC	0.572												
MLF1IP	79682	broad.mit.edu	37	4	185652122	185652122	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:185652122G>A	uc003iwq.2	-	2	118	c.48C>T	c.(46-48)GGC>GGT	p.G16G	MLF1IP_uc003iwp.2_RNA|MLF1IP_uc003iwr.1_Silent_p.G16G	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	MLF1 interacting protein	16	Nuclear localization signal (Potential).				CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm					0		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		AACGTCTTGCGCTATTAAACA	0.318												
MTNR1A	4543	broad.mit.edu	37	4	187454960	187454960	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:187454960C>T	uc003izd.1	-	2	954	c.936G>A	c.(934-936)TCG>TCA	p.S312S		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	312	Cytoplasmic (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CTGTACAGAGCGAGACTATAA	0.443												
FAT1	2195	broad.mit.edu	37	4	187541000	187541000	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:187541000T>C	uc003izf.2	-	10	6928	c.6740A>G	c.(6739-6741)CAC>CGC	p.H2247R		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2247	Extracellular (Potential).|Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATATGCCGGGTGGGCCTCAAA	0.473										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187628340	187628340	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:187628340C>T	uc003izf.2	-	2	2830	c.2642G>A	c.(2641-2643)CGC>CAC	p.R881H	FAT1_uc010iso.1_Missense_Mutation_p.R881H	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	881	Extracellular (Potential).|Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATCCAGAGGGCGTGCGATGTT	0.512										HNSCC(5;0.00058)		
TRIML2	205860	broad.mit.edu	37	4	189026334	189026334	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:189026334C>A	uc003izl.2	-	1	75	c.39G>T	c.(37-39)AGG>AGT	p.R13S	TRIML2_uc011cle.1_Missense_Mutation_p.R63S|TRIML2_uc011clf.1_Missense_Mutation_p.R63S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	13	Potential.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGACTCTTACCCTGTAATTCT	0.458												
PLEKHG4B	153478	broad.mit.edu	37	5	171483	171483	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:171483C>T	uc003jak.2	+	14	2956	c.2906C>T	c.(2905-2907)GCC>GTC	p.A969V		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	969	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAGCTCCGAGCCGCCGAGGTC	0.682												
SLC9A3	6550	broad.mit.edu	37	5	476160	476160	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:476160C>T	uc003jbe.2	-	14	2227	c.2115G>A	c.(2113-2115)GCG>GCA	p.A705A	SLC9A3_uc011clx.1_Silent_p.A696A|uc011cly.1_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	705	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGAAATTCTGCGCAGGGCTCT	0.642												
SLC12A7	10723	broad.mit.edu	37	5	1085569	1085569	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:1085569G>A	uc003jbu.2	-	7	761	c.695C>T	c.(694-696)GCG>GTG	p.A232V		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	232	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GAAGATGGCCGCACCCGGGGA	0.697												
MRPL36	64979	broad.mit.edu	37	5	1798783	1798783	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:1798783G>A	uc003jcx.3	-	2	330	c.267C>T	c.(265-267)TAC>TAT	p.Y89Y	NDUFS6_uc003jcy.2_5'Flank	NM_032479	NP_115868	Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36 precursor	89					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0				GBM - Glioblastoma multiforme(108;0.241)		TACAGTAGACGTACCACCGAC	0.542												
MRPL36	64979	broad.mit.edu	37	5	1798827	1798827	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:1798827G>A	uc003jcx.3	-	2	286	c.223C>T	c.(223-225)CGC>TGC	p.R75C	NDUFS6_uc003jcy.2_5'Flank	NM_032479	NP_115868	Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36 precursor	75					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome				0				GBM - Glioblastoma multiforme(108;0.241)		TCCTTGCAGCGCTTCTTAAGG	0.577												
NSUN2	54888	broad.mit.edu	37	5	6600055	6600055	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:6600055A>G	uc003jdu.2	-	19	2353	c.2288T>C	c.(2287-2289)GTC>GCC	p.V763A	NSUN2_uc003jds.2_Missense_Mutation_p.V209A|NSUN2_uc003jdt.2_Missense_Mutation_p.V527A|NSUN2_uc011cmk.1_Missense_Mutation_p.V728A|NSUN2_uc003jdv.2_Missense_Mutation_p.V527A	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	763						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1						GGGTGGATGGACCCCCGCCGG	0.612												
PAPD7	11044	broad.mit.edu	37	5	6754921	6754921	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:6754921G>A	uc003jdx.1	+	13	1621	c.1492G>A	c.(1492-1494)GGC>AGC	p.G498S	PAPD7_uc011cmn.1_Missense_Mutation_p.G488S|PAPD7_uc010itl.1_Missense_Mutation_p.G318S	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	498					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						CCAAGGCGGCGGCTACAGCTC	0.602												
C5orf49	134121	broad.mit.edu	37	5	7851036	7851036	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:7851036C>T	uc003jea.3	-	1	229	c.99G>A	c.(97-99)CCG>CCA	p.P33P		NM_001089584	NP_001083053	A4QMS7	CE049_HUMAN	hypothetical protein LOC134121	33											0						CCAGGCGCCGCGGCGGGATGT	0.657												
FASTKD3	79072	broad.mit.edu	37	5	7867447	7867447	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:7867447T>C	uc003jeb.2	-	2	887	c.750A>G	c.(748-750)ACA>ACG	p.T250T	FASTKD3_uc011cmp.1_5'UTR|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	250					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						CCGGGGTAAATGTTTCCAATT	0.353												
MTRR	4552	broad.mit.edu	37	5	7883316	7883316	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:7883316C>T	uc003jed.2	+	6	940	c.910C>T	c.(910-912)CCA>TCA	p.P304S	MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.P277S|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	304	FAD-binding FR-type.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TTTTCAAGTGCCAATTTCAAA	0.368												
CCT5	22948	broad.mit.edu	37	5	10261696	10261696	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:10261696C>T	uc003jeq.2	+	8	1189	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W	CCT5_uc011cmq.1_Missense_Mutation_p.R187W|CCT5_uc003jer.2_Missense_Mutation_p.R340W|CCT5_uc010its.2_Missense_Mutation_p.R340W|CCT5_uc011cmr.1_Missense_Mutation_p.R285W|CCT5_uc011cms.1_Missense_Mutation_p.R302W|CCT5_uc011cmt.1_Missense_Mutation_p.R247W	NM_012073	NP_036205	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	340					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			ovary(2)	2						AACAGGAGGGCGGATCGTCCC	0.502												
MARCH6	10299	broad.mit.edu	37	5	10417411	10417411	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:10417411G>A	uc003jet.1	+	22	2361	c.2178G>A	c.(2176-2178)CTG>CTA	p.L726L	MARCH6_uc011cmu.1_Silent_p.L678L|MARCH6_uc003jeu.1_Silent_p.L424L|MARCH6_uc011cmv.1_Silent_p.L621L	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	726	Helical; (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						TTGCGGTGCTGTTGGCTGGAG	0.468												
ROPN1L	83853	broad.mit.edu	37	5	10461379	10461379	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:10461379G>A	uc003jex.3	+	4	772	c.501G>A	c.(499-501)ACG>ACA	p.T167T		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	167					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						CCTTCAAGACGTTTTCCTACG	0.542												
CTNND2	1501	broad.mit.edu	37	5	11384837	11384837	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:11384837T>C	uc003jfa.1	-	7	1262	c.1117A>G	c.(1117-1119)AGC>GGC	p.S373G	CTNND2_uc010itt.2_Missense_Mutation_p.S282G|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	373					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GAGTGCTTGCTGTACTGCTCG	0.682												
DNAH5	1767	broad.mit.edu	37	5	13817685	13817685	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:13817685A>G	uc003jfd.2	-	42	7002	c.6960T>C	c.(6958-6960)CTT>CTC	p.L2320L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2320	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TTTTCCTCCAAAGCGTAGAAA	0.393									Kartagener_syndrome			
TRIO	7204	broad.mit.edu	37	5	14481681	14481681	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:14481681G>T	uc003jff.2	+	45	6425	c.6419G>T	c.(6418-6420)AGG>ATG	p.R2140M	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.R1789M	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2140	DH 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)					ATAGTACCCAGGCGGTGCAAC	0.507												
FBXL7	23194	broad.mit.edu	37	5	15936669	15936669	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:15936669G>A	uc003jfn.1	+	4	1331	c.850G>A	c.(850-852)GTG>ATG	p.V284M		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	284	LRR 5.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GGACTGCTTCGTGCTGGAGGA	0.622												
CDH18	1016	broad.mit.edu	37	5	19473529	19473529	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:19473529G>T	uc003jgc.2	-	12	2556	c.2179C>A	c.(2179-2181)CCT>ACT	p.P727T	CDH18_uc003jgd.2_Missense_Mutation_p.P727T|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	727	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGAACGCTAGGGTCTAGGTCT	0.483												
PRDM9	56979	broad.mit.edu	37	5	23527496	23527496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:23527496C>T	uc003jgo.2	+	11	2481	c.2299C>T	c.(2299-2301)CAG>TAG	p.Q767*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	767	C2H2-type 10.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						CCTCAGACACCAGAGGACACA	0.577										HNSCC(3;0.000094)		
PDZD2	23037	broad.mit.edu	37	5	32098574	32098574	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:32098574C>T	uc003jhl.2	+	23	8440	c.8052C>T	c.(8050-8052)CAC>CAT	p.H2684H	PDZD2_uc003jhm.2_Silent_p.H2684H|PDZD2_uc003jhn.2_5'Flank	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2684	PDZ 5.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GCTTAGCCCACGGGAATGTCC	0.592												
ZFR	51663	broad.mit.edu	37	5	32379276	32379276	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:32379276C>T	uc003jhr.1	-	17	2860	c.2780G>A	c.(2779-2781)CGC>CAC	p.R927H	ZFR_uc010ium.1_Missense_Mutation_p.R58H|ZFR_uc011cny.1_RNA	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	927	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		TCGAAGAATGCGTATGATAAT	0.383												
RXFP3	51289	broad.mit.edu	37	5	33937524	33937524	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:33937524C>T	uc003jic.1	+	1	1036	c.679C>T	c.(679-681)CTG>TTG	p.L227L		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	227	Helical; Name=4; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						TTTGGCCGCGCTGGCCTCGCT	0.682												
LMBRD2	92255	broad.mit.edu	37	5	36142606	36142606	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:36142606T>C	uc003jkb.1	-	3	685	c.270A>G	c.(268-270)CCA>CCG	p.P90P		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	90	Extracellular (Potential).					integral to membrane					0	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAATACCTTGGAACAGGGT	0.338												
WDR70	55100	broad.mit.edu	37	5	37721216	37721216	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:37721216G>A	uc003jkv.2	+	14	1475	c.1417_splice	c.e14-1	p.S473_splice		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70											ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCCTTTGCAGAGTGTTGTTC	0.438												
EGFLAM	133584	broad.mit.edu	37	5	38258945	38258945	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:38258945G>A	uc003jlc.1	+	1	413	c.89G>A	c.(88-90)CGA>CAA	p.R30Q	EGFLAM_uc003jlb.1_Missense_Mutation_p.R30Q	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	30						cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					GCGGCCATCCGAAAACCAGGT	0.706												
OSMR	9180	broad.mit.edu	37	5	38925463	38925463	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:38925463G>A	uc003jln.1	+	15	2569	c.2202G>A	c.(2200-2202)CCG>CCA	p.P734P	OSMR_uc011cpj.1_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	734	Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)					TCACGACTCCGGATGAACACT	0.438												
FYB	2533	broad.mit.edu	37	5	39202427	39202427	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:39202427G>A	uc003jls.2	-	1	703	c.636C>T	c.(634-636)GAC>GAT	p.D212D	FYB_uc003jlt.2_Silent_p.D212D|FYB_uc003jlu.2_Silent_p.D212D|FYB_uc011cpl.1_Silent_p.D222D	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	212					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGGGCTTTCGTCTTCATGGG	0.527												
HSPB3	8988	broad.mit.edu	37	5	53751767	53751767	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:53751767G>A	uc003jph.1	+	1	323	c.148G>A	c.(148-150)GCA>ACA	p.A50T		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	50					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus					0		Lung NSC(810;0.00104)				GAAAACCAGGGCAGCGCAGTC	0.572												
DHX29	54505	broad.mit.edu	37	5	54585098	54585098	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:54585098C>A	uc003jpx.2	-	8	1186	c.1066G>T	c.(1066-1068)GAT>TAT	p.D356Y	DHX29_uc010ivw.2_RNA	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	356				D -> G (in Ref. 1; AAK64516).			ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTAATTTTACCTTTCTCTTCT	0.323												
DDX4	54514	broad.mit.edu	37	5	55081584	55081584	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:55081584C>A	uc003jqg.3	+	13	823	c.749C>A	c.(748-750)CCT>CAT	p.P250H	DDX4_uc010ivz.2_Missense_Mutation_p.P230H|DDX4_uc003jqh.3_Missense_Mutation_p.P216H|DDX4_uc003jqj.2_Missense_Mutation_p.P101H	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	250					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATACCCCCTCCTCCACCTGAG	0.378												
FLJ37543	285668	broad.mit.edu	37	5	60982782	60982782	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:60982782G>A	uc003jst.1	+	3	185	c.110G>A	c.(109-111)CGC>CAC	p.R37H	uc003jsu.1_Intron|uc010iwo.1_Intron|uc003jsv.2_Intron	NM_173667	NP_775938	Q2M2E5	CE064_HUMAN	hypothetical protein LOC285668 precursor	37						extracellular region					0		Lung NSC(810;0.000468)|Prostate(74;0.0283)|Breast(144;0.237)				AAATTGCCCCGCACTGCGATA	0.438												
HTR1A	3350	broad.mit.edu	37	5	63256965	63256965	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:63256965G>T	uc011cqt.1	-	1	582	c.582C>A	c.(580-582)GGC>GGA	p.G194G		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	194	Helical; Name=5; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGATAGTGTAGCCATGATCCT	0.582												
RNF180	285671	broad.mit.edu	37	5	63509748	63509748	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:63509748C>T	uc003jti.2	+	4	705	c.595C>T	c.(595-597)CTG>TTG	p.L199L	RNF180_uc003jth.3_Silent_p.L199L|RNF180_uc010iws.2_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	ring finger protein 180 isoform 1	199	Cytoplasmic (Potential).					integral to membrane|nuclear envelope	zinc ion binding				0		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CGAAAAACTGCTGTCCAAAGC	0.418												
SGTB	54557	broad.mit.edu	37	5	64976614	64976614	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:64976614G>T	uc003jud.2	-	7	707	c.487C>A	c.(487-489)CTC>ATC	p.L163I		NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat	163	TPR 4.						binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		AAGGCAGTGAGGGCCAGCCTG	0.358												
SFRS12	140890	broad.mit.edu	37	5	65458074	65458074	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:65458074G>A	uc003juo.2	+	5	861	c.201G>A	c.(199-201)ACG>ACA	p.T67T	SFRS12_uc003jun.2_Silent_p.T183T|SFRS12_uc010iwy.2_Silent_p.T67T	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	67	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)		TTAGGAGAACGGTTTATGTTG	0.398												
MAST4	375449	broad.mit.edu	37	5	66448644	66448644	+	Missense_Mutation	SNP	C	C	T	rs77194622		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:66448644C>T	uc003jut.1	+	24	2976	c.2908C>T	c.(2908-2910)CGG>TGG	p.R970W	MAST4_uc003juw.2_Missense_Mutation_p.R898W	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1162	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCGAGCCATCCGGGTGTATGT	0.527												
MAST4	375449	broad.mit.edu	37	5	66459063	66459063	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:66459063C>T	uc003jut.1	+	28	3557	c.3489C>T	c.(3487-3489)CAC>CAT	p.H1163H	MAST4_uc003juw.2_Silent_p.H1091H|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1355						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCACTCTCCACGGTCTTGCAC	0.647												
MAST4	375449	broad.mit.edu	37	5	66461066	66461066	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:66461066G>T	uc003jut.1	+	28	5560	c.5492G>T	c.(5491-5493)AGG>ATG	p.R1831M	MAST4_uc003juw.2_Missense_Mutation_p.R1759M|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	2023						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCTGTGGGAAGGACCCACCCA	0.562												
MAST4	375449	broad.mit.edu	37	5	66462750	66462750	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:66462750C>T	uc003jut.1	+	28	7244	c.7176C>T	c.(7174-7176)GAC>GAT	p.D2392D	MAST4_uc003juw.2_Silent_p.D2320D|MAST4_uc003jux.2_Silent_p.D145D	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	2584						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGGGCAGAGACGTGACCAAGC	0.597												
OCLN	4950	broad.mit.edu	37	5	68805099	68805099	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:68805099C>A	uc003jwu.2	+	3	618	c.182C>A	c.(181-183)CCT>CAT	p.P61H	OCLN_uc003jwv.3_Missense_Mutation_p.P61H	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGGACCTCTCCTCCAGGAGTG	0.478												
BDP1	55814	broad.mit.edu	37	5	70806644	70806644	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:70806644C>T	uc003kbp.1	+	17	3988	c.3725C>T	c.(3724-3726)GCA>GTA	p.A1242V	BDP1_uc003kbn.1_Missense_Mutation_p.A1242V|BDP1_uc003kbo.2_Missense_Mutation_p.A1242V	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	1242	Potential.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.|8; approximate.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGTGCTAGCAGAGTTCAGT	0.408												
ZNF366	167465	broad.mit.edu	37	5	71757207	71757207	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:71757207G>T	uc003kce.1	-	2	303	c.117C>A	c.(115-117)CCC>CCA	p.P39P		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGTGTCTTTGGGGAGCCTTTC	0.577												
TNPO1	3842	broad.mit.edu	37	5	72178958	72178958	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:72178958C>T	uc003kck.3	+	11	1196	c.1049C>T	c.(1048-1050)TCG>TTG	p.S350L	TNPO1_uc011csi.1_RNA|TNPO1_uc011csj.1_Missense_Mutation_p.S300L|TNPO1_uc003kch.2_Missense_Mutation_p.S342L|TNPO1_uc003kci.3_Missense_Mutation_p.S342L|TNPO1_uc003kcg.3_Missense_Mutation_p.S342L	NM_002270	NP_002261	Q92973	TNPO1_HUMAN	transportin 1 isoform 1	350					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TTTCACCGATCGAGGACGGTG	0.353												
ENC1	8507	broad.mit.edu	37	5	73932218	73932218	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:73932218G>A	uc003kdc.3	-	2	1224	c.93C>T	c.(91-93)AGC>AGT	p.S31S	ENC1_uc011css.1_Intron	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	31					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)		GAGTGAGGACGCTGTCAGCGT	0.537												
NSA2	10412	broad.mit.edu	37	5	74066523	74066523	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:74066523G>A	uc003kdk.1	+	4	493	c.410G>A	c.(409-411)CGA>CAA	p.R137Q		NM_014886	NP_055701	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog	137	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex				ovary(1)	1						AAAGTTATTCGAACAGGAAAG	0.373												
POLK	51426	broad.mit.edu	37	5	74889775	74889775	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:74889775G>A	uc003kdw.2	+	12	1525	c.1429G>A	c.(1429-1431)GTT>ATT	p.V477I	POLK_uc003kdx.2_Intron|POLK_uc003kdy.2_Intron|POLK_uc010izq.2_Intron|POLK_uc003kec.2_Missense_Mutation_p.V387I|POLK_uc010izr.2_RNA|POLK_uc010izs.2_Intron|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.V387I	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	DNA-directed DNA polymerase kappa	477					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			ovary(2)|kidney(2)	4		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGTTTCATCTGTTGTTTCTAC	0.323								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
IQGAP2	10788	broad.mit.edu	37	5	75989261	75989261	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:75989261G>A	uc003kek.2	+	31	4209	c.3987G>A	c.(3985-3987)GCG>GCA	p.A1329A	IQGAP2_uc011csv.1_Silent_p.A825A|IQGAP2_uc003kel.2_Silent_p.A825A|IQGAP2_uc010izw.1_Silent_p.A30A	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1329					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CAGCAACTGCGCAACAGGTAA	0.363												
PDE8B	8622	broad.mit.edu	37	5	76717790	76717790	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:76717790A>G	uc003kfa.2	+	20	2440	c.2395A>G	c.(2395-2397)ATC>GTC	p.I799V	PDE8B_uc003kfb.2_Missense_Mutation_p.I779V|PDE8B_uc003kfc.2_Missense_Mutation_p.I744V|PDE8B_uc003kfd.2_Missense_Mutation_p.I752V|PDE8B_uc003kfe.2_Missense_Mutation_p.I702V	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	799	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GGCTGGGAGGATCTCTGAGGA	0.537												
THBS4	7060	broad.mit.edu	37	5	79355648	79355648	+	Missense_Mutation	SNP	G	G	A	rs34249634	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:79355648G>A	uc003kgh.2	+	8	1230	c.907G>A	c.(907-909)GAC>AAC	p.D303N		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	303	EGF-like 1.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CCAATGTACCGACAGTAGAGA	0.587												
ZFYVE16	9765	broad.mit.edu	37	5	79733418	79733418	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:79733418G>A	uc003kgr.3	+	4	1216	c.914G>A	c.(913-915)AGC>AAC	p.S305N	ZFYVE16_uc010jak.1_Missense_Mutation_p.S305N|ZFYVE16_uc003kgp.2_Missense_Mutation_p.S305N|ZFYVE16_uc003kgq.3_Missense_Mutation_p.S305N|ZFYVE16_uc003kgs.3_Missense_Mutation_p.S305N	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	305					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTGACCTGCAGCCTTCCGAAA	0.358												
VCAN	1462	broad.mit.edu	37	5	82834123	82834123	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:82834123A>G	uc003kii.3	+	8	5657	c.5301A>G	c.(5299-5301)TCA>TCG	p.S1767S	VCAN_uc003kij.3_Silent_p.S780S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.S431S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1767	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTAGTGATTCAGGTACCAGGA	0.358												
GPR98	84059	broad.mit.edu	37	5	89981753	89981753	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:89981753G>T	uc003kju.2	+	29	6527	c.6431G>T	c.(6430-6432)GGA>GTA	p.G2144V	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2144	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTAGAACAGGAGGAGCATTT	0.418												
GLRX	2745	broad.mit.edu	37	5	95158219	95158219	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:95158219C>T	uc003klo.3	-	1	359	c.148G>A	c.(148-150)GCC>ACC	p.A50T	GLRX_uc003kln.3_Missense_Mutation_p.A50T	NM_001118890	NP_001112362	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	50	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding				0		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	TGGTTGGTGGCTGTGATATCG	0.493												
RIOK2	55781	broad.mit.edu	37	5	96498868	96498868	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:96498868C>T	uc003kmz.2	-	10	1666	c.1556G>A	c.(1555-1557)CGT>CAT	p.R519H		NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2 isoform 1	519	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)		CTGCAATCGACGTCTGACAGC	0.378												
SLCO6A1	133482	broad.mit.edu	37	5	101709039	101709039	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:101709039A>G	uc003knn.2	-	13	2347	c.2175_splice	c.e13+1		SLCO6A1_uc003kno.2_Splice_Site|SLCO6A1_uc003knp.2_Splice_Site|SLCO6A1_uc003knq.2_Splice_Site	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,							integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGTAATTCTTACACAATGATG	0.264												
MAN2A1	4124	broad.mit.edu	37	5	109181595	109181595	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:109181595G>A	uc003kou.1	+	18	3693	c.2730G>A	c.(2728-2730)TTG>TTA	p.L910L		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	910	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGAGCAAATTGCCTCTTCAAG	0.388												
APC	324	broad.mit.edu	37	5	112176452	112176452	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:112176452G>T	uc010jby.2	+	16	5541	c.5161G>T	c.(5161-5163)GGT>TGT	p.G1721C	APC_uc011cvt.1_Missense_Mutation_p.G1703C|APC_uc003kpz.3_Missense_Mutation_p.G1721C|APC_uc003kpy.3_Missense_Mutation_p.G1721C|APC_uc010jbz.2_Missense_Mutation_p.G1438C|APC_uc010jca.2_Missense_Mutation_p.G1021C	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1721	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGCAGAGGAAGGTGATATTCT	0.428		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
TSSK1B	83942	broad.mit.edu	37	5	112770511	112770511	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:112770511C>T	uc003kqm.2	-	1	218	c.26G>A	c.(25-27)CGA>CAA	p.R9Q	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	9					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GTAGCCTCGTCGCTTGAGGAC	0.552												
AQPEP	206338	broad.mit.edu	37	5	115298780	115298780	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:115298780G>A	uc003kro.2	+	1	630	c.466G>A	c.(466-468)GCC>ACC	p.A156T	AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	156	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						CTGCGAGCGCGCCGAGGTGCG	0.672												
DMXL1	1657	broad.mit.edu	37	5	118433791	118433791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:118433791C>T	uc003ksd.2	+	2	386	c.205C>T	c.(205-207)CAA>TAA	p.Q69*	DMXL1_uc010jcl.1_Nonsense_Mutation_p.Q69*|DMXL1_uc003ksc.1_Nonsense_Mutation_p.Q69*	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	69										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTCAATGCAACAAGGCAAGGT	0.338												
PRR16	51334	broad.mit.edu	37	5	119800237	119800237	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:119800237C>T	uc003ksq.2	+	1	219	c.56C>T	c.(55-57)CCG>CTG	p.P19L	PRR16_uc003ksp.2_5'UTR	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	19										pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GAGGGACCGCCGGCAGCCTCC	0.592												
LOX	4015	broad.mit.edu	37	5	121413257	121413257	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:121413257C>T	uc003ksu.2	-	1	799	c.424G>A	c.(424-426)GCG>ACG	p.A142T	LOX_uc010jcq.2_5'Flank|LOX_uc011cwk.1_5'Flank|LOX_uc010jcr.2_5'Flank	NM_002317	NP_002308	P28300	LYOX_HUMAN	lysyl oxidase preproprotein	142					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			lung(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TGGTTCTCCGCGCGCGAGGCG	0.682												
PHF15	23338	broad.mit.edu	37	5	133914473	133914473	+	Silent	SNP	C	C	T	rs115890725	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:133914473C>T	uc003kzo.1	+	11	2018	c.1839C>T	c.(1837-1839)GAC>GAT	p.D613D	PHF15_uc011cxt.1_Silent_p.D657D|PHF15_uc003kzk.2_Silent_p.D673D|PHF15_uc003kzm.2_Silent_p.D614D|PHF15_uc003kzn.2_3'UTR	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	613	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCGCAGGACGGGCCTGGTT	0.672												
SPOCK1	6695	broad.mit.edu	37	5	136448205	136448205	+	Silent	SNP	C	C	T	rs144155642		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:136448205C>T	uc003lbo.2	-	4	584	c.393G>A	c.(391-393)TCG>TCA	p.S131S	SPOCK1_uc003lbp.2_Silent_p.S131S	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	131	Kazal-like.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGACCAAATTCGAAGGTCCAA	0.493												
SPOCK1	6695	broad.mit.edu	37	5	136834106	136834106	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:136834106C>T	uc003lbo.2	-	1	333	c.142G>A	c.(142-144)GTC>ATC	p.V48I	SPOCK1_uc003lbp.2_Missense_Mutation_p.V48I	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	48					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TACTGGGAGACGGTGCTCAGC	0.682												
GFRA3	2676	broad.mit.edu	37	5	137593558	137593558	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:137593558C>T	uc003lcn.2	-	4	695	c.555G>A	c.(553-555)GCG>GCA	p.A185A	GFRA3_uc003lco.2_Silent_p.A154A	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	185					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCCGGAGCACGCCTCCCCGT	0.652												
FAM53C	51307	broad.mit.edu	37	5	137680703	137680703	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:137680703C>T	uc003lcv.2	+	4	796	c.326C>T	c.(325-327)CCC>CTC	p.P109L	FAM53C_uc003lcw.2_Missense_Mutation_p.P109L|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	109										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTTCCTGTGCCCCCTGCCCCT	0.662												
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139909369	139909369	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:139909369A>G	uc003lfs.1	+	29	6962	c.6838A>G	c.(6838-6840)ACT>GCT	p.T2280A	ANKHD1_uc003lfr.2_Missense_Mutation_p.T2280A|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.T1019A|ANKHD1_uc003lfw.2_Missense_Mutation_p.T918A|ANKHD1_uc010jfl.2_Missense_Mutation_p.T715A|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.T417A	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2280						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGTTTCTACTAGTCCAGT	0.458												
PCDHA8	56140	broad.mit.edu	37	5	140222372	140222372	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140222372T>G	uc003lhs.2	+	1	1466	c.1466T>G	c.(1465-1467)CTG>CGG	p.L489R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.L489R	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	489	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACGCGCTGGTGTCCTAC	0.667												
PCDHB5	26167	broad.mit.edu	37	5	140516534	140516534	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140516534C>T	uc003liq.2	+	1	1735	c.1518C>T	c.(1516-1518)AAC>AAT	p.N506N		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	506	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCCATCAACGCGGACAACG	0.687												
PCDHB7	56129	broad.mit.edu	37	5	140553206	140553206	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140553206G>A	uc003lit.2	+	1	964	c.790G>A	c.(790-792)GTG>ATG	p.V264M		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	264	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTTGTCTCCGTGTCAGCCAG	0.463												
PCDHB16	57717	broad.mit.edu	37	5	140564126	140564126	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140564126C>T	uc003liv.2	+	1	3147	c.1992C>T	c.(1990-1992)GAC>GAT	p.D664D	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	664	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGTGGACGGCTTCTCCC	0.701												
PCDHB10	56126	broad.mit.edu	37	5	140572634	140572634	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140572634A>G	uc003lix.2	+	1	683	c.509A>G	c.(508-510)TAC>TGC	p.Y170C		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	170	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCCAAAACTACACGATCAGC	0.423												
PCDHB13	56123	broad.mit.edu	37	5	140595829	140595829	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140595829C>T	uc003lja.1	+	1	2321	c.2134C>T	c.(2134-2136)CGG>TGG	p.R712W		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	712	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCGGTGCGGCTGTGTAG	0.667												
PCDHB14	56122	broad.mit.edu	37	5	140603872	140603872	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140603872A>G	uc003ljb.2	+	1	795	c.795A>G	c.(793-795)TCA>TCG	p.S265S	PCDHB14_uc011dal.1_Silent_p.S112S	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	265	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACCATCTCAGCTAAGGATC	0.423												
PCDHB15	56121	broad.mit.edu	37	5	140625174	140625174	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140625174G>A	uc003lje.2	+	1	28	c.28G>A	c.(28-30)GAA>AAA	p.E10K		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	10					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTTTCCCGAACAAAGGCA	0.542												
PCDHB15	56121	broad.mit.edu	37	5	140626763	140626763	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140626763G>T	uc003lje.2	+	1	1617	c.1617G>T	c.(1615-1617)CCG>CCT	p.P539P		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	539	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCTTCCCGGCGCTGAGCA	0.672												
PCDHGA1	56114	broad.mit.edu	37	5	140712347	140712347	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140712347C>T	uc003lji.1	+	1	2096	c.2096C>T	c.(2095-2097)GCG>GTG	p.A699V	PCDHGA1_uc011dan.1_Missense_Mutation_p.A699V	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	699	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCGGCCGCGGTCTCCTGC	0.662												
PCDHGA2	56113	broad.mit.edu	37	5	140720428	140720428	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140720428A>G	uc003ljk.1	+	1	2075	c.1890A>G	c.(1888-1890)CGA>CGG	p.R630R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.R630R	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	630	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACGGCGCGAGCCCTGCTGG	0.692												
PCDHGA3	56112	broad.mit.edu	37	5	140723736	140723736	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140723736G>T	uc003ljm.1	+	1	136	c.136G>T	c.(136-138)GGC>TGC	p.G46C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.G46C	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	46	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTTCGTGGGCAACATCGC	0.617											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCDHGA3	56112	broad.mit.edu	37	5	140724818	140724818	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140724818G>A	uc003ljm.1	+	1	1218	c.1218G>A	c.(1216-1218)ACG>ACA	p.T406T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.T166T|PCDHGA3_uc011dap.1_Silent_p.T406T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	406	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTAGTGACGGCCACATCCC	0.463												
PCDHGA4	56111	broad.mit.edu	37	5	140735596	140735596	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140735596G>A	uc003ljq.1	+	1	829	c.829G>A	c.(829-831)GTG>ATG	p.V277M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.V277M	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	277	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGGAGACGTGACGTATTC	0.453												
PCDHGA4	56111	broad.mit.edu	37	5	140736283	140736283	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140736283T>G	uc003ljq.1	+	1	1516	c.1516T>G	c.(1516-1518)TCC>GCC	p.S506A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.S506A	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	506	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTATGTCTCCATCAACTC	0.512												
PCDHGA8	9708	broad.mit.edu	37	5	140774582	140774582	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140774582C>T	uc003lkd.1	+	1	3100	c.2202C>T	c.(2200-2202)GGC>GGT	p.G734G	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_uc003lkb.3_Silent_p.G734G	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	734	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTGGTAGGCGTGCCTGCCT	0.602												
PCDHGA11	56105	broad.mit.edu	37	5	140800981	140800981	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140800981C>T	uc003lkq.1	+	1	445	c.187C>T	c.(187-189)CGC>TGC	p.R63C	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_uc003lko.1_Missense_Mutation_p.R63C|PCDHGA11_uc003lkp.1_Missense_Mutation_p.R63C	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	63	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCGAAGCGCGGAGTCCG	0.612												
PCDHGA11	56105	broad.mit.edu	37	5	140802087	140802087	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140802087G>A	uc003lkq.1	+	1	1551	c.1293G>A	c.(1291-1293)CCG>CCA	p.P431P	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_uc003lko.1_Silent_p.P431P|PCDHGA11_uc003lkp.1_Silent_p.P431P	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	431	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGAAGCCCGCCTTTGTCTG	0.468												
PCDHGA12	26025	broad.mit.edu	37	5	140812146	140812146	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:140812146G>A	uc003lkt.1	+	1	1989	c.1820G>A	c.(1819-1821)CGT>CAT	p.R607H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R607H	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	607	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCCTACCGTCTGCTCAAG	0.697												
PCDH1	5097	broad.mit.edu	37	5	141243886	141243886	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:141243886G>A	uc003llq.2	-	3	2127	c.2010C>T	c.(2008-2010)AGC>AGT	p.S670S	PCDH1_uc003llp.2_Silent_p.S670S|PCDH1_uc011dbf.1_Silent_p.S648S	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	670	Extracellular (Potential).|Cadherin 6.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CAAAGCTCAGGCTGGATAGGA	0.547												
KIAA0141	9812	broad.mit.edu	37	5	141318231	141318231	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:141318231G>A	uc003lls.2	+	12	1577	c.1455G>A	c.(1453-1455)GGG>GGA	p.G485G	KIAA0141_uc003llt.2_Silent_p.G485G|KIAA0141_uc003llu.1_RNA	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	hypothetical protein LOC9812 precursor	485	TPR 7.				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)			GCAGAAGTGGGCATCTCGGAG	0.592												
POU4F3	5459	broad.mit.edu	37	5	145719489	145719489	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:145719489G>A	uc003loa.2	+	2	588	c.499G>A	c.(499-501)GTG>ATG	p.V167M		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	167					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCGCACACCGTGGCCCCTCA	0.667												
POU4F3	5459	broad.mit.edu	37	5	145719769	145719769	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:145719769G>A	uc003loa.2	+	2	868	c.779G>A	c.(778-780)CGA>CAA	p.R260Q		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	260					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCGCCTACCGAGAGAAGAAC	0.602												
STK32A	202374	broad.mit.edu	37	5	146750300	146750300	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:146750300C>A	uc010jgn.1	+	9	1024	c.744C>A	c.(742-744)GCC>GCA	p.A248A	STK32A_uc003lom.2_Silent_p.A248A|STK32A_uc011dbw.1_Silent_p.A248A	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A isoform 1	248	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCTTCTGCCTGGTCACAGG	0.428												
JAKMIP2	9832	broad.mit.edu	37	5	147024496	147024496	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:147024496C>T	uc003loq.1	-	6	1382	c.1000G>A	c.(1000-1002)GCC>ACC	p.A334T	JAKMIP2_uc011dbx.1_Missense_Mutation_p.A292T|JAKMIP2_uc003lor.1_Missense_Mutation_p.A334T|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.A334T	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	334	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTCTTGGCGAGGCACTTG	0.433												
FBXO38	81545	broad.mit.edu	37	5	147793715	147793715	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:147793715G>A	uc003lpf.1	+	10	1230	c.1110G>A	c.(1108-1110)GCG>GCA	p.A370A	FBXO38_uc003lpg.1_Silent_p.A370A|FBXO38_uc003lph.2_Silent_p.A370A	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	370						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTAATGCGGATCTGGTGA	0.353												
ADRB2	154	broad.mit.edu	37	5	148207281	148207281	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:148207281A>G	uc003lpr.1	+	1	1126	c.887A>G	c.(886-888)CAT>CGT	p.H296R	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	adrenergic, beta-2-, receptor, surface	296	Helical; Name=6.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	AACATTGTGCATGTGATCCAG	0.468												
ABLIM3	22885	broad.mit.edu	37	5	148596538	148596538	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:148596538A>G	uc003lpy.2	+	8	937	c.686A>G	c.(685-687)TAC>TGC	p.Y229C	ABLIM3_uc003lpz.1_Missense_Mutation_p.Y229C|ABLIM3_uc003lqa.1_Missense_Mutation_p.Y237C|ABLIM3_uc003lqb.2_Missense_Mutation_p.Y229C|ABLIM3_uc003lqc.1_Missense_Mutation_p.Y229C|ABLIM3_uc003lqd.1_Missense_Mutation_p.Y229C|ABLIM3_uc003lqf.2_Missense_Mutation_p.Y229C|ABLIM3_uc003lqe.1_Missense_Mutation_p.Y229C	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	229	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAGCACTACCACCCAACC	0.517												
IL17B	27190	broad.mit.edu	37	5	148756492	148756492	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:148756492G>T	uc003lqo.2	-	2	168	c.118C>A	c.(118-120)CCT>ACT	p.P40T		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	40					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGGGCCAGGGGCCAGGGGC	0.622												
CSF1R	1436	broad.mit.edu	37	5	149433654	149433654	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:149433654G>A	uc003lrl.2	-	21	3092	c.2897C>T	c.(2896-2898)CCC>CTC	p.P966L	CSF1R_uc011dcd.1_3'UTR|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.P966L	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	966	Cytoplasmic (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ATAGTTGTTGGGCTGCAGCAA	0.517												
CSF1R	1436	broad.mit.edu	37	5	149459829	149459829	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:149459829G>T	uc003lrl.2	-	3	573	c.378C>A	c.(376-378)CCC>CCA	p.P126P	CSF1R_uc011dcd.1_Translation_Start_Site|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.P126P|CSF1R_uc011dce.1_Silent_p.P126P|CSF1R_uc011dcf.1_Silent_p.P126P	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	126	Extracellular (Potential).|Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGAGCAGACAGGGCAGTAGTG	0.647												
SLC6A7	6534	broad.mit.edu	37	5	149576667	149576667	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:149576667G>A	uc003lrr.2	+	4	783	c.412G>A	c.(412-414)GCC>ACC	p.A138T		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	138	Extracellular (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CATGATCATCGCCTACGTGCT	0.617												
SLC6A7	6534	broad.mit.edu	37	5	149589080	149589080	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:149589080A>T	uc003lrr.2	+	14	2184	c.1813A>T	c.(1813-1815)ATG>TTG	p.M605L		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	605	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	AAAGCCACTGATGGTGCACAT	0.632												
CD74	972	broad.mit.edu	37	5	149786866	149786866	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:149786866C>T	uc003lsc.2	-	2	158	c.147G>A	c.(145-147)CTG>CTA	p.L49L	CD74_uc003lsb.2_5'Flank|CD74_uc003lse.2_Silent_p.L49L|CD74_uc003lsd.2_Silent_p.L49L|CD74_uc003lsf.1_Silent_p.L49L	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	CD74 antigen isoform a	49	Helical; Signal-anchor for type II membrane protein; (Potential).				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCTGTGTACAGGGCTCCGC	0.512			T	ROS1	NSCLC							
DCTN4	51164	broad.mit.edu	37	5	150110226	150110226	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:150110226T>C	uc003lsv.2	-	8	903	c.801A>G	c.(799-801)AAA>AAG	p.K267K	DCTN4_uc003lsu.2_Silent_p.K210K|DCTN4_uc010jhi.2_Silent_p.K274K|DCTN4_uc010jhj.2_RNA	NM_016221	NP_057305	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62) isoform b	267						centrosome|nucleus	protein N-terminus binding			central_nervous_system(1)	1		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAAGATGTTTGTGGCGAG	0.468												
FAT2	2196	broad.mit.edu	37	5	150887100	150887100	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:150887100C>A	uc003lue.3	-	22	12145	c.12132G>T	c.(12130-12132)TGG>TGT	p.W4044C	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.W651C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4044	Extracellular (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCTGCCCCCAGTCCCCCC	0.567												
FAT2	2196	broad.mit.edu	37	5	150924502	150924502	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:150924502A>G	uc003lue.3	-	9	6199	c.6186T>C	c.(6184-6186)GAT>GAC	p.D2062D	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2062	Extracellular (Potential).|Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCATTGACATCCTCAATAG	0.522												
NMUR2	56923	broad.mit.edu	37	5	151784353	151784353	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:151784353G>A	uc003luv.2	-	1	488	c.322C>T	c.(322-324)CGC>TGC	p.R108C		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	108	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGGTAGTTGCGCCACATCTCA	0.587												
FAM114A2	10827	broad.mit.edu	37	5	153414380	153414380	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:153414380G>T	uc003lvb.2	-	2	722	c.134C>A	c.(133-135)CCT>CAT	p.P45H	FAM114A2_uc003lvc.2_Missense_Mutation_p.P45H|FAM114A2_uc003lvd.2_Missense_Mutation_p.P45H|FAM114A2_uc003lve.2_Translation_Start_Site|FAM114A2_uc011dda.1_Intron	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	45							purine nucleotide binding				0						GGAAACTACAGGTTCTGATTT	0.458												
C5orf40	408263	broad.mit.edu	37	5	156770019	156770019	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:156770019G>A	uc003lwu.2	-	2	714	c.526C>T	c.(526-528)CAG>TAG	p.Q176*	CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	hypothetical protein LOC408263	176						integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGAGCCCCTGCAGGTCTTCC	0.617											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ADAM19	8728	broad.mit.edu	37	5	156917389	156917389	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:156917389G>T	uc003lwz.2	-	19	2233	c.2169C>A	c.(2167-2169)TGC>TGA	p.C723*	ADAM19_uc003lww.1_Nonsense_Mutation_p.C456*|ADAM19_uc003lwy.2_Nonsense_Mutation_p.C322*|ADAM19_uc011ddr.1_Nonsense_Mutation_p.C654*	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	723	Cytoplasmic (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTGTCTGCAGCAGTAGTACA	0.542												
RNF145	153830	broad.mit.edu	37	5	158603680	158603680	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:158603680G>T	uc003lxp.2	-	5	894	c.581C>A	c.(580-582)CCT>CAT	p.P194H	RNF145_uc011ddy.1_Missense_Mutation_p.P208H|RNF145_uc003lxo.1_Missense_Mutation_p.P222H|RNF145_uc011ddz.1_Missense_Mutation_p.P211H|RNF145_uc010jiq.1_Missense_Mutation_p.P224H|RNF145_uc011dea.1_Missense_Mutation_p.P210H	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	194						integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGGTTATAAGGTACCAAAAG	0.333												
IL12B	3593	broad.mit.edu	37	5	158750309	158750309	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:158750309C>T	uc003lxr.1	-	3	159	c.117G>A	c.(115-117)CCG>CCA	p.P39P		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	39	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				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)			CAGGGGCATCCGGATACCAAT	0.383												
CCNJL	79616	broad.mit.edu	37	5	159680604	159680604	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:159680604G>A	uc003lyb.1	-	7	1341	c.1089C>T	c.(1087-1089)GCC>GCT	p.A363A	CCNJL_uc011dee.1_Silent_p.A315A|CCNJL_uc003lyc.1_RNA	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	363						nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGAACGGTGGGCCTGCAAGG	0.667												
ATP10B	23120	broad.mit.edu	37	5	160047495	160047495	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:160047495T>C	uc003lym.1	-	15	3122	c.2275A>G	c.(2275-2277)AGC>GGC	p.S759G	ATP10B_uc010jit.1_Missense_Mutation_p.S76G|ATP10B_uc003lyn.2_Missense_Mutation_p.S317G	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	759	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)			CAGAGGAGGCTGAAGGTGAGG	0.607												
RARS	5917	broad.mit.edu	37	5	167937689	167937689	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:167937689A>G	uc003lzx.2	+	12	1491	c.1450A>G	c.(1450-1452)AAG>GAG	p.K484E	RARS_uc011deo.1_Missense_Mutation_p.K278E	NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	484					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		AGAAAGAGACAAGGTAATTCA	0.388												
SLIT3	6586	broad.mit.edu	37	5	168149277	168149277	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:168149277G>A	uc003mab.2	-	23	2887	c.2467C>T	c.(2467-2469)CGG>TGG	p.R823W	SLIT3_uc010jjg.2_Missense_Mutation_p.R823W	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	823					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGCAGGGACCGCAGCCCGTTG	0.547												
DOCK2	1794	broad.mit.edu	37	5	169508852	169508852	+	Missense_Mutation	SNP	C	C	T	rs141274816		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:169508852C>T	uc003maf.2	+	51	5374	c.5294C>T	c.(5293-5295)GCG>GTG	p.A1765V	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.A1257V|DOCK2_uc003mah.2_Missense_Mutation_p.A321V	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1765					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGCCCTGGCGCTCTCAGTG	0.627												
FOXI1	2299	broad.mit.edu	37	5	169533425	169533425	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:169533425A>G	uc003mai.3	+	1	509	c.464A>G	c.(463-465)GAC>GGC	p.D155G	FOXI1_uc003maj.3_Missense_Mutation_p.D155G	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	155	Fork-head.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACGTGGCCGACAACTTCCCC	0.612									Pendred_syndrome			
FOXI1	2299	broad.mit.edu	37	5	169533489	169533489	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:169533489G>A	uc003mai.3	+	1	573	c.528G>A	c.(526-528)TCG>TCA	p.S176S	FOXI1_uc003maj.3_Silent_p.S176S	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	176	Fork-head.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAACCTGTCGCTCAACGACT	0.592									Pendred_syndrome			
GABRP	2568	broad.mit.edu	37	5	170232766	170232766	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:170232766C>T	uc003mau.2	+	7	786	c.588C>T	c.(586-588)AAC>AAT	p.N196N	GABRP_uc011dev.1_Silent_p.N196N	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	196	Extracellular (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAGAGGGAACGACTCTGTGC	0.522												
UBTD2	92181	broad.mit.edu	37	5	171639009	171639009	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:171639009A>G	uc003mbp.1	-	3	656	c.530T>C	c.(529-531)ATG>ACG	p.M177T		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	dendritic cell-derived ubiquitin-like protein	177	Ubiquitin-like.					cytoplasm					0	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGTCTCTTCATGTGGAATAC	0.502												
C5orf41	153222	broad.mit.edu	37	5	172550130	172550130	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:172550130C>T	uc003mch.2	+	8	2033	c.1729C>T	c.(1729-1731)CGG>TGG	p.R577W	C5orf41_uc011dfd.1_Missense_Mutation_p.R577W	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	577							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GATTGTAAACCGGGTACAGAA	0.383												
CPEB4	80315	broad.mit.edu	37	5	173317326	173317326	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:173317326C>T	uc003mcs.3	+	1	1996	c.590C>T	c.(589-591)GCT>GTT	p.A197V	CPEB4_uc010jju.1_Missense_Mutation_p.A197V|CPEB4_uc010jjv.2_Missense_Mutation_p.A197V|CPEB4_uc011dfg.1_Missense_Mutation_p.A197V|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	197							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGGTCCCTGCTGCTTCGGCT	0.502												
KIAA1191	57179	broad.mit.edu	37	5	175777655	175777655	+	Silent	SNP	G	G	A	rs147780177	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:175777655G>A	uc003mdw.2	-	6	792	c.420C>T	c.(418-420)ACC>ACT	p.T140T	KIAA1191_uc003mdx.2_Silent_p.T121T|KIAA1191_uc003mdy.2_Silent_p.T140T|KIAA1191_uc003mea.2_Intron|KIAA1191_uc003mdz.2_Intron	NM_020444	NP_065177	Q96A73	K1191_HUMAN	hypothetical protein LOC57179 isoform a	140							protein binding			ovary(1)	1	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		TGGTCTCCTCGGTGGTGAGGC	0.517												
FAF2	23197	broad.mit.edu	37	5	175919205	175919205	+	Missense_Mutation	SNP	C	C	T	rs151193681		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:175919205C>T	uc003mej.3	+	5	408	c.355C>T	c.(355-357)CGT>TGT	p.R119C		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	UBX domain containing 8	119					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			ovary(1)	1						GTTTGCTCTTCGTTTTATACG	0.483												
FGFR4	2264	broad.mit.edu	37	5	176520159	176520159	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:176520159G>A	uc003mfl.2	+	9	1245	c.1078G>A	c.(1078-1080)GCA>ACA	p.A360T	FGFR4_uc003mfm.2_Missense_Mutation_p.A360T|FGFR4_uc011dfu.1_Missense_Mutation_p.A360T|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.2_Intron	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	360	Extracellular (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)	CACATGGACCGCAGCAGCGCC	0.642										TSP Lung(9;0.080)		
NSD1	64324	broad.mit.edu	37	5	176639130	176639130	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:176639130A>G	uc003mfr.3	+	5	3868	c.3730A>G	c.(3730-3732)ATT>GTT	p.I1244V	NSD1_uc003mft.3_Missense_Mutation_p.I975V|NSD1_uc003mfs.1_Missense_Mutation_p.I1141V|NSD1_uc011dfx.1_Missense_Mutation_p.I892V	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1244					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGTGCCAGCATTGGTGACAT	0.438			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
NSD1	64324	broad.mit.edu	37	5	176722004	176722004	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:176722004G>T	uc003mfr.3	+	23	7773	c.7635G>T	c.(7633-7635)AAG>AAT	p.K2545N	NSD1_uc003mft.3_Missense_Mutation_p.K2276N|NSD1_uc011dfx.1_Missense_Mutation_p.K2193N	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2545					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTCCTGCCAAGGCCTTTTTAT	0.572			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
GRK6	2870	broad.mit.edu	37	5	176860644	176860644	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:176860644G>T	uc011dfz.1	+	8	865	c.705G>T	c.(703-705)AAG>AAT	p.K235N	GRK6_uc003mgp.2_Missense_Mutation_p.K235N|GRK6_uc003mgq.2_Missense_Mutation_p.K235N|GRK6_uc003mgs.1_Missense_Mutation_p.K205N	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	235	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TGAACGAGAAGCAGATCCTGG	0.567												
RMND5B	64777	broad.mit.edu	37	5	177575020	177575020	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:177575020G>A	uc003mim.2	+	11	1349	c.1169G>A	c.(1168-1170)CGC>CAC	p.R390H	RMND5B_uc003min.2_Missense_Mutation_p.R390H|RMND5B_uc003mio.2_Missense_Mutation_p.R377H|RMND5B_uc003mip.2_Missense_Mutation_p.R390H|RMND5B_uc011dgf.1_Missense_Mutation_p.R431H|RMND5B_uc003miq.2_Missense_Mutation_p.R330H	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog	390										ovary(1)|skin(1)	2	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGGAAACGCATCATATTC	0.532												
CLK4	57396	broad.mit.edu	37	5	178039467	178039467	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:178039467T>C	uc003mjf.1	-	9	1109	c.1001A>G	c.(1000-1002)CAC>CGC	p.H334R	CLK4_uc003mjg.1_Missense_Mutation_p.H298R|CLK4_uc010jku.1_Missense_Mutation_p.H154R|CLK4_uc003mjh.1_Missense_Mutation_p.H154R|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Intron|CLK4_uc011dgh.1_Missense_Mutation_p.H154R	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	334	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)	1	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CAAAGTACTGTGATGTTCATC	0.408												
GRM6	2916	broad.mit.edu	37	5	178413722	178413722	+	Silent	SNP	G	G	A	rs61733043	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:178413722G>A	uc003mjr.2	-	8	1712	c.1533C>T	c.(1531-1533)CAC>CAT	p.H511H	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Silent_p.H94H|GRM6_uc003mjs.1_Silent_p.H131H	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	511	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGGGCACCTCGTGGGGGTCGC	0.697												
SQSTM1	8878	broad.mit.edu	37	5	179260040	179260040	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:179260040G>A	uc003mkw.3	+	6	858	c.763G>A	c.(763-765)GTT>ATT	p.V255I	SQSTM1_uc011dgr.1_Missense_Mutation_p.V171I|SQSTM1_uc011dgs.1_Missense_Mutation_p.V171I|SQSTM1_uc003mkv.3_Missense_Mutation_p.V255I|SQSTM1_uc003mkx.2_Missense_Mutation_p.V171I	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	255					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCATTGAAGTTGATATCGA	0.572									Paget_Disease_of_Bone			
C5orf45	51149	broad.mit.edu	37	5	179264410	179264410	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:179264410T>C	uc003mla.2	-	7	1057	c.1013A>G	c.(1012-1014)GAC>GGC	p.D338G	SQSTM1_uc011dgr.1_3'UTR|SQSTM1_uc011dgs.1_3'UTR|SQSTM1_uc003mkw.3_3'UTR|SQSTM1_uc003mkx.2_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_Missense_Mutation_p.D283G|C5orf45_uc003mlb.2_Missense_Mutation_p.D204G	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	hypothetical protein LOC51149 isoform 1	338											0						ATCATCGAAGTCTTCCCCAGT	0.522												
TRIM7	81786	broad.mit.edu	37	5	180622224	180622224	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:180622224C>T	uc003mmz.1	-	7	1545	c.1478G>A	c.(1477-1479)CGC>CAC	p.R493H	TRIM7_uc003mmv.1_Missense_Mutation_p.R311H|TRIM7_uc003mmw.1_Missense_Mutation_p.R285H|TRIM7_uc003mmx.1_Missense_Mutation_p.R285H|TRIM7_uc003mmy.1_Missense_Mutation_p.R285H	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	493	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CGGGAACACGCGCTCCTGGAA	0.647												
RIPK1	8737	broad.mit.edu	37	6	3105859	3105859	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:3105859T>C	uc010jni.2	+	9	1382	c.1150T>C	c.(1150-1152)TAC>CAC	p.Y384H	RIPK1_uc003muv.3_Missense_Mutation_p.Y221H|RIPK1_uc003muw.3_Missense_Mutation_p.Y319H|RIPK1_uc011dhs.1_Missense_Mutation_p.Y338H|RIPK1_uc003mux.2_Missense_Mutation_p.Y384H	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	384	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CGAAGCCAACTACCATCTTTA	0.552												
CDYL	9425	broad.mit.edu	37	6	4892385	4892385	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:4892385G>T	uc003mwi.2	+	4	756	c.625G>T	c.(625-627)GTG>TTG	p.V209L	CDYL_uc003mwj.2_Missense_Mutation_p.V155L|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Missense_Mutation_p.V23L|CDYL_uc011dhy.1_Missense_Mutation_p.V23L	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	209					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CAGGACCGCAGTGGACGGCTT	0.592												
RREB1	6239	broad.mit.edu	37	6	7211914	7211914	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:7211914A>G	uc003mxc.2	+	8	1069	c.679A>G	c.(679-681)ATG>GTG	p.M227V	RREB1_uc010jnw.2_Missense_Mutation_p.M227V|RREB1_uc003mxb.2_Missense_Mutation_p.M227V|RREB1_uc010jnx.2_Missense_Mutation_p.M227V|RREB1_uc003mxd.2_Missense_Mutation_p.M227V	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	227	C2H2-type 4.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGAGACCCACATGGAGACCCA	0.463												
RREB1	6239	broad.mit.edu	37	6	7229398	7229398	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:7229398G>A	uc003mxc.2	+	10	1456	c.1066G>A	c.(1066-1068)GAC>AAC	p.D356N	RREB1_uc003mxb.2_Missense_Mutation_p.D356N|RREB1_uc010jnx.2_Missense_Mutation_p.D356N	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	356					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTGCCTGGTGACGCCCTGGA	0.657												
RREB1	6239	broad.mit.edu	37	6	7230308	7230308	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:7230308G>A	uc003mxc.2	+	10	2366	c.1976G>A	c.(1975-1977)CGT>CAT	p.R659H	RREB1_uc003mxb.2_Missense_Mutation_p.R659H|RREB1_uc010jnx.2_Missense_Mutation_p.R659H	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	659	C2H2-type 7.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGGGTCTTGCGTGCCCACGTG	0.657												
CAGE1	285782	broad.mit.edu	37	6	7370300	7370300	+	Splice_Site	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:7370300T>C	uc003mxi.2	-	5	2060	c.1339_splice	c.e5-1	p.D447_splice	CAGE1_uc003mxh.2_Splice_Site|CAGE1_uc003mxj.2_Splice_Site_p.D338_splice|CAGE1_uc003mxk.1_Splice_Site_p.D338_splice	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1												0	Ovarian(93;0.0418)					TTTTGTATCCTACATGCACGT	0.393												
DSP	1832	broad.mit.edu	37	6	7583974	7583974	+	Missense_Mutation	SNP	G	G	A	rs146642551		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:7583974G>A	uc003mxp.1	+	24	6758	c.6479G>A	c.(6478-6480)CGA>CAA	p.R2160Q	DSP_uc003mxq.1_Missense_Mutation_p.R1561Q	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2160	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATTTGTATCGATCCCTGAAT	0.488												
DSP	1832	broad.mit.edu	37	6	7584598	7584598	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:7584598T>C	uc003mxp.1	+	24	7382	c.7103T>C	c.(7102-7104)TTA>TCA	p.L2368S	DSP_uc003mxq.1_Missense_Mutation_p.L1769S	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2368	Plectin 10.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATTCGCTTATTAGAAGCACAG	0.453												
DSP	1832	broad.mit.edu	37	6	7585991	7585991	+	Silent	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:7585991A>T	uc003mxp.1	+	24	8775	c.8496A>T	c.(8494-8496)GGA>GGT	p.G2832G	DSP_uc003mxq.1_Silent_p.G2233G	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2832	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		cccgctcgggatctcgctccg	0.418												
MAK	4117	broad.mit.edu	37	6	10792006	10792006	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:10792006G>T	uc003mzl.2	-	9	1447	c.1218C>A	c.(1216-1218)AGC>AGA	p.S406R	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.S406R|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	406					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ACTCTTCCCAGCTATCTCCAG	0.438												
HIVEP1	3096	broad.mit.edu	37	6	12122061	12122061	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:12122061G>A	uc003nac.2	+	4	2212	c.2033G>A	c.(2032-2034)CGT>CAT	p.R678H	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	678					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)				TACTTTTCACGTTCTGAAAGT	0.502												
ATXN1	6310	broad.mit.edu	37	6	16327894	16327894	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:16327894C>A	uc003nbt.2	-	8	1619	c.648G>T	c.(646-648)CAG>CAT	p.Q216H	ATXN1_uc010jpi.2_Missense_Mutation_p.Q216H|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	216	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.373												
ATXN1	6310	broad.mit.edu	37	6	16328200	16328200	+	Silent	SNP	C	C	T	rs34546632		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:16328200C>T	uc003nbt.2	-	8	1313	c.342G>A	c.(340-342)CCG>CCA	p.P114P	ATXN1_uc010jpi.2_Silent_p.P114P|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	114					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGGGGGACACCGGGGTCCCTG	0.657												
KIF13A	63971	broad.mit.edu	37	6	17773734	17773734	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:17773734C>A	uc003ncg.3	-	36	4404	c.4299G>T	c.(4297-4299)AGG>AGT	p.R1433S	KIF13A_uc003ncf.2_Missense_Mutation_p.R1420S|KIF13A_uc003nch.3_Missense_Mutation_p.R1433S|KIF13A_uc003nci.3_Missense_Mutation_p.R1420S|KIF13A_uc003nce.1_Missense_Mutation_p.R19S	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1433					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)			GAGGAGAATCCCTGGGTAAAG	0.368												
FAM65B	9750	broad.mit.edu	37	6	24843728	24843728	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:24843728G>A	uc003neo.1	-	14	1458	c.1282C>T	c.(1282-1284)CCA>TCA	p.P428S	FAM65B_uc011djs.1_Missense_Mutation_p.P407S|FAM65B_uc011dju.1_Missense_Mutation_p.P412S|FAM65B_uc003nep.2_Missense_Mutation_p.P378S|FAM65B_uc011djt.1_Missense_Mutation_p.P378S	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	428					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						AGCGACAGTGGCATTTTCTCC	0.448												
HIST1H1E	3008	broad.mit.edu	37	6	26157216	26157216	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:26157216A>G	uc003ngq.2	+	1	658	c.598A>G	c.(598-600)AAA>GAA	p.K200E	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	200					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						CAAGGCGGCTAAACCAAAGAC	0.522												
ZNF391	346157	broad.mit.edu	37	6	27369041	27369041	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:27369041A>G	uc003njf.1	+	3	1410	c.892A>G	c.(892-894)ATC>GTC	p.I298V		NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	298	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(2)|skin(1)	3						ACATCAGAGAATCCACAGTGG	0.473												
HIST1H2AM	8336	broad.mit.edu	37	6	27860579	27860579	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:27860579G>A	uc003nkb.1	-	1	385	c.349C>T	c.(349-351)CTC>TTC	p.L117F	HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	117					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			ovary(2)	2						TTCTTGGGGAGCAGTACGGCC	0.507												
ZNF311	282890	broad.mit.edu	37	6	28967739	28967739	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:28967739C>A	uc003nlu.2	-	4	690	c.177G>T	c.(175-177)CAG>CAT	p.Q59H	ZNF311_uc011dlk.1_Translation_Start_Site|ZNF311_uc003nlv.2_Translation_Start_Site	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						TCACTTGGGCCTGGCTCATTA	0.488												
MDC1	9656	broad.mit.edu	37	6	30675204	30675204	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:30675204G>A	uc003nrg.3	-	9	3481	c.3041C>T	c.(3040-3042)GCT>GTT	p.A1014V	MDC1_uc003nrf.3_Missense_Mutation_p.A404V|MDC1_uc011dmp.1_Missense_Mutation_p.A621V	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1014				Missing (in Ref. 2; CAH18685).	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						AGCCTTCTCAGCAGGTGGCAT	0.488								Other_conserved_DNA_damage_response_genes				
MDC1	9656	broad.mit.edu	37	6	30679786	30679786	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:30679786G>T	uc003nrg.3	-	5	2373	c.1933C>A	c.(1933-1935)CTC>ATC	p.L645I	MDC1_uc003nrf.3_Missense_Mutation_p.L299I|MDC1_uc011dmp.1_Missense_Mutation_p.L517I|MDC1_uc003nrh.1_Missense_Mutation_p.L517I|MDC1_uc003nri.2_Missense_Mutation_p.L645I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	645				Missing (in Ref. 2; CAH18685).	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						AGATCTGTGAGGTTCTCTCTT	0.582								Other_conserved_DNA_damage_response_genes				
MDC1	9656	broad.mit.edu	37	6	30681028	30681028	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:30681028C>T	uc003nrg.3	-	5	1131	c.691G>A	c.(691-693)GAG>AAG	p.E231K	MDC1_uc003nrf.3_5'UTR|MDC1_uc011dmp.1_Missense_Mutation_p.E103K|MDC1_uc003nrh.1_Missense_Mutation_p.E103K|MDC1_uc003nri.2_Missense_Mutation_p.E231K	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	231	Required for nuclear localization (NLS1).				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						GAGGCCTCCTCTGTGGCTGGT	0.537								Other_conserved_DNA_damage_response_genes				
GTF2H4	2968	broad.mit.edu	37	6	30881608	30881608	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:30881608C>A	uc003nsa.1	+	14	1444	c.1237C>A	c.(1237-1239)CTG>ATG	p.L413M	GTF2H4_uc003nsb.1_Missense_Mutation_p.L251M|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|VARS2_uc011dna.1_5'Flank|VARS2_uc011dnb.1_5'Flank|VARS2_uc011dnc.1_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	413					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						TAACCAGTTCCTGTCGCAAGT	0.647								NER				
HLA-B	3106	broad.mit.edu	37	6	31323216	31323216	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:31323216C>T	uc003nth.2	-	4	827	c.773G>A	c.(772-774)AGA>AAA	p.R258K	HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.R137K|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	258	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						TCCTGCTGGTCTGGTCTCCAC	0.587									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of			
CSNK2B	1460	broad.mit.edu	37	6	31636368	31636368	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:31636368C>T	uc003nvr.1	+	4	568	c.228C>T	c.(226-228)GCC>GCT	p.A76A	BAT4_uc003nvo.3_5'Flank|BAT4_uc003nvp.3_5'Flank|BAT4_uc003nvq.2_5'Flank|CSNK2B_uc010jta.1_3'UTR|CSNK2B_uc003nvs.1_Silent_p.A76A|LY6G5B_uc003nvt.1_5'Flank	NM_001320	NP_001311	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	76					adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding				0						AGCAGGCAGCCGAGATGCTTT	0.532												
VARS	7407	broad.mit.edu	37	6	31753385	31753385	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:31753385C>T	uc003nxe.2	-	9	1649	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	409					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)	AAAGGCCTCGCGGCCCAGCTG	0.607												
RDBP	7936	broad.mit.edu	37	6	31924499	31924499	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:31924499G>A	uc003nyk.2	-	4	466	c.262C>T	c.(262-264)CGT>TGT	p.R88C	RDBP_uc011dot.1_Missense_Mutation_p.R88C|RDBP_uc003nyl.1_Missense_Mutation_p.R33C|RDBP_uc003nym.1_Missense_Mutation_p.R88C|SKIV2L_uc003nyn.1_5'Flank|SKIV2L_uc011dou.1_5'Flank|SKIV2L_uc011dov.1_5'Flank	NM_002904	NP_002895	P18615	NELFE_HUMAN	RD RNA-binding protein	88					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GTTCGAGAACGCTTGAAGCCT	0.498												
SKIV2L	6499	broad.mit.edu	37	6	31935845	31935845	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:31935845G>A	uc003nyn.1	+	23	3233	c.2844G>A	c.(2842-2844)CAG>CAA	p.Q948Q	SKIV2L_uc011dou.1_Silent_p.Q790Q|SKIV2L_uc011dov.1_Silent_p.Q755Q	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	948						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						GCAAGAGGCAGCAGCCAAAAT	0.587												
TNXB	7148	broad.mit.edu	37	6	32064222	32064222	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:32064222A>C	uc003nzl.2	-	3	1610	c.1408T>G	c.(1408-1410)TGT>GGT	p.C470G		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	470	EGF-like 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CGGCCACGACAGTCCCCAGGA	0.701												
GPSM3	63940	broad.mit.edu	37	6	32159258	32159258	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:32159258C>A	uc003oay.3	-	4	761	c.368G>T	c.(367-369)CGG>CTG	p.R123L	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Missense_Mutation_p.R100L|GPSM3_uc003oaz.2_Missense_Mutation_p.R123L	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	123	GoLoco 2.				signal transduction	cytoplasm	GTPase activator activity|protein binding				0						AGGCTCTGACCGCTGGGCTTC	0.632												
SCUBE3	222663	broad.mit.edu	37	6	35195381	35195381	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:35195381C>T	uc003okf.1	+	2	116	c.110C>T	c.(109-111)ACT>ATT	p.T37I	SCUBE3_uc003okg.1_Missense_Mutation_p.T37I|SCUBE3_uc003okh.1_5'UTR	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	37	EGF-like 1; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						GTGGAGGGGACTGACAACTGC	0.557												
BRPF3	27154	broad.mit.edu	37	6	36169331	36169331	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:36169331A>G	uc003olv.3	+	2	1456	c.1232A>G	c.(1231-1233)GAA>GGA	p.E411G	BRPF3_uc010jwb.2_Missense_Mutation_p.E411G|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.E411G	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	411	Glu-rich.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GGCGATGAGGAAGGGCTGAAG	0.498												
CDKN1A	1026	broad.mit.edu	37	6	36652093	36652093	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:36652093G>A	uc003omm.3	+	2	337	c.215G>A	c.(214-216)GGC>GAC	p.G72D	CDKN1A_uc011dtq.1_Missense_Mutation_p.G106D|CDKN1A_uc003oml.2_Missense_Mutation_p.G72D|CDKN1A_uc003omn.2_Missense_Mutation_p.G72D	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	72					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						CGGGGCCTTGGCCTGCCCAAG	0.682									Multiple_Endocrine_Neoplasia_type_1			
PPIL1	51645	broad.mit.edu	37	6	36823635	36823635	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:36823635C>T	uc003omu.2	-	4	707	c.455G>A	c.(454-456)CGC>CAC	p.R152H		NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase-like 1	152	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						GTCCACAGGGCGGTCCTGGGA	0.532												
PIM1	5292	broad.mit.edu	37	6	37140782	37140782	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:37140782G>A	uc003onk.2	+	5	1048	c.618G>A	c.(616-618)GTG>GTA	p.V206V	PIM1_uc011dtw.1_Missense_Mutation_p.C75Y	NM_002648	NP_002639	P11309	PIM1_HUMAN	non-specific serine/threonine protein kinase	297	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			large_intestine(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GGACCCGAGTGTATAGCCCTC	0.483			T	BCL6	NHL							
BTBD9	114781	broad.mit.edu	37	6	38565763	38565763	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:38565763G>A	uc003ooa.3	-	3	684	c.108C>T	c.(106-108)GGC>GGT	p.G36G	BTBD9_uc003ony.3_5'Flank|BTBD9_uc010jwv.2_5'Flank|BTBD9_uc010jww.2_5'Flank|BTBD9_uc010jwx.2_Silent_p.G36G	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	36	BTB.				cell adhesion						0						ATGTGACGTCGCCATATTCTT	0.448												
DNAH8	1769	broad.mit.edu	37	6	38831703	38831703	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:38831703T>C	uc003ooe.1	+	43	6314	c.5714T>C	c.(5713-5715)TTG>TCG	p.L1905S		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						AGAATTGAATTGCCTGTATTA	0.338												
DAAM2	23500	broad.mit.edu	37	6	39835331	39835331	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:39835331A>G	uc003oow.2	+	6	630	c.474A>G	c.(472-474)CTA>CTG	p.L158L	DAAM2_uc010jxc.2_Silent_p.L158L|DAAM2_uc003oox.2_Silent_p.L158L	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	158	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCTGTCTGCTAAATTTCCTCC	0.493												
DAAM2	23500	broad.mit.edu	37	6	39847122	39847122	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:39847122C>A	uc003oow.2	+	14	1870	c.1714C>A	c.(1714-1716)CCA>ACA	p.P572T	DAAM2_uc010jxc.2_Missense_Mutation_p.P572T|DAAM2_uc003oox.2_Missense_Mutation_p.P572T	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	572	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCAGGTGCCCCACCTTGCCT	0.463												
UNC5CL	222643	broad.mit.edu	37	6	41000848	41000848	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:41000848C>T	uc003opi.2	-	4	813	c.724G>A	c.(724-726)GAA>AAA	p.E242K		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	unc-5 homolog C-like	242	Cytoplasmic (Potential).|Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				ovary(2)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGCGGGCTTCGCGCCCCACA	0.602												
NFYA	4800	broad.mit.edu	37	6	41048625	41048625	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:41048625A>G	uc003opo.2	+	3	329	c.151A>G	c.(151-153)ACC>GCC	p.T51A	NFYA_uc003opp.2_Intron|NFYA_uc003opq.2_Intron	NM_002505	NP_002496	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha isoform 1	51	Gln-rich.				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAAGTCCAGACCCTCCAGGT	0.552												
GNMT	27232	broad.mit.edu	37	6	42930824	42930824	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:42930824C>T	uc003otd.2	+	4	472	c.466C>T	c.(466-468)CAC>TAC	p.H156Y	uc003ote.1_5'Flank	NM_018960	NP_061833	Q14749	GNMT_HUMAN	glycine N-methyltransferase	156					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity				0	Colorectal(47;0.196)		all cancers(41;0.00196)|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;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	CCAGAGTGAGCACCGGCTGGC	0.622												
GNMT	27232	broad.mit.edu	37	6	42931117	42931117	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:42931117G>A	uc003otd.2	+	5	652	c.646G>A	c.(646-648)GCC>ACC	p.A216T	uc003ote.1_5'Flank	NM_018960	NP_061833	Q14749	GNMT_HUMAN	glycine N-methyltransferase	216					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity				0	Colorectal(47;0.196)		all cancers(41;0.00196)|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;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	GAACAACAAGGCCCACATGGT	0.597												
CUL7	9820	broad.mit.edu	37	6	43010844	43010844	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43010844T>C	uc003otq.2	-	18	3733	c.3430A>G	c.(3430-3432)ACG>GCG	p.T1144A	CUL7_uc010jyg.2_Missense_Mutation_p.T423A|CUL7_uc011dvb.1_Missense_Mutation_p.T1228A|CUL7_uc010jyh.2_Missense_Mutation_p.T137A|KLC4_uc003otr.1_RNA	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1144					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAACAGCGCGTCAGGTTTCTC	0.587												
CUL7	9820	broad.mit.edu	37	6	43013343	43013343	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43013343G>A	uc003otq.2	-	14	3147	c.2844C>T	c.(2842-2844)CGC>CGT	p.R948R	CUL7_uc010jyg.2_Silent_p.R227R|CUL7_uc011dvb.1_Silent_p.R1032R|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	948	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGCGCTTTATGCGGATCTGGA	0.622												
CUL9	23113	broad.mit.edu	37	6	43160803	43160803	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43160803G>A	uc003ouk.2	+	9	2320	c.2245G>A	c.(2245-2247)GTG>ATG	p.V749M	CUL9_uc003oul.2_Missense_Mutation_p.V749M|CUL9_uc010jyk.2_Translation_Start_Site	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	749					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						GATGGTGGTCGTGCAGGCCCT	0.582												
CUL9	23113	broad.mit.edu	37	6	43174137	43174137	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43174137T>C	uc003ouk.2	+	26	5176	c.5101T>C	c.(5101-5103)TCA>CCA	p.S1701P	CUL9_uc003oul.2_Missense_Mutation_p.S1701P|CUL9_uc010jyk.2_Missense_Mutation_p.S853P	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1701					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						ACTGGTCCTGTCACCACGCTG	0.498												
TTBK1	84630	broad.mit.edu	37	6	43250478	43250478	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43250478C>T	uc003ouq.1	+	14	2279	c.2000C>T	c.(1999-2001)GCG>GTG	p.A667V		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	667						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTCTCCGTGGCGCCCCCATTT	0.612												
TTBK1	84630	broad.mit.edu	37	6	43252036	43252036	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43252036A>G	uc003ouq.1	+	14	3837	c.3558A>G	c.(3556-3558)ACA>ACG	p.T1186T		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1186						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CATTGGACACAGCCATCACCA	0.682												
SLC22A7	10864	broad.mit.edu	37	6	43271885	43271885	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43271885G>A	uc003out.2	+	10	1594	c.1495G>A	c.(1495-1497)GGG>AGG	p.G499R	SLC22A7_uc003ous.2_Missense_Mutation_p.G497R	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	solute carrier family 22 member 7 isoform b	499	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCTTACTTATGGGGGGATCGC	0.662												
ZNF318	24149	broad.mit.edu	37	6	43322761	43322761	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43322761C>T	uc003oux.2	-	4	2389	c.2311G>A	c.(2311-2313)GCA>ACA	p.A771T	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	771					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATCCGAGCTGCAGCAAACTGA	0.537												
ABCC10	89845	broad.mit.edu	37	6	43400685	43400685	+	Missense_Mutation	SNP	G	G	A	rs140348023	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43400685G>A	uc003ouy.1	+	3	1182	c.967G>A	c.(967-969)GGC>AGC	p.G323S	ABCC10_uc003ouz.1_Missense_Mutation_p.G280S|ABCC10_uc010jyo.1_5'Flank	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	323	ABC transmembrane type-1 1.|Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACTAAGCCACGGCCTGCTCTA	0.587												
ABCC10	89845	broad.mit.edu	37	6	43413629	43413629	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:43413629C>T	uc003ouy.1	+	15	3538	c.3323C>T	c.(3322-3324)GCC>GTC	p.A1108V	ABCC10_uc003ouz.1_Missense_Mutation_p.A1080V|ABCC10_uc010jyo.1_Missense_Mutation_p.A214V	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1108	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGCCATCTGGCCGATACCTTG	0.627												
HSP90AB1	3326	broad.mit.edu	37	6	44218839	44218839	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:44218839C>T	uc003oxa.1	+	7	1096	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	HSP90AB1_uc011dvr.1_Missense_Mutation_p.R328W|HSP90AB1_uc003oxb.1_Missense_Mutation_p.R338W|HSP90AB1_uc011dvs.1_Missense_Mutation_p.R158W|HSP90AB1_uc003oxc.1_5'UTR	NM_007355	NP_031381	P08238	HS90B_HUMAN	heat shock 90kDa protein 1, beta	338					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			lung(3)|breast(1)	4	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TATTCCTCGTCGGGCTCCCTT	0.408												
RUNX2	860	broad.mit.edu	37	6	45514719	45514719	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:45514719A>G	uc011dvx.1	+	9	1453	c.1243A>G	c.(1243-1245)ACC>GCC	p.T415A	RUNX2_uc011dvy.1_Missense_Mutation_p.T393A|RUNX2_uc003oxt.2_Missense_Mutation_p.T401A	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	415	Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.|Interaction with MYST4.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						TATGTCCGCCACCACTCACTA	0.582												
TFAP2B	7021	broad.mit.edu	37	6	50791415	50791415	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:50791415G>A	uc003pag.2	+	2	543	c.377G>A	c.(376-378)CGG>CAG	p.R126Q		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	126	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					CCCCAGCCTCGGGCCGCCTTG	0.701												
PKHD1	5314	broad.mit.edu	37	6	51613383	51613383	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:51613383C>T	uc003pah.1	-	58	9307	c.9031G>A	c.(9031-9033)GCA>ACA	p.A3011T	PKHD1_uc010jzn.1_Missense_Mutation_p.A994T|PKHD1_uc003pai.2_Missense_Mutation_p.A3011T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3011	Extracellular (Potential).|PbH1 7.				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)					CAGGATCCTGCTGACACATTA	0.423												
PKHD1	5314	broad.mit.edu	37	6	51735403	51735403	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:51735403G>T	uc003pah.1	-	47	7661	c.7385C>A	c.(7384-7386)CCT>CAT	p.P2462H	PKHD1_uc010jzn.1_Missense_Mutation_p.P445H|PKHD1_uc003pai.2_Missense_Mutation_p.P2462H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2462	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)					CCATCTTTTAGGAGTTTTAAT	0.358												
MCM3	4172	broad.mit.edu	37	6	52147553	52147553	+	Missense_Mutation	SNP	C	C	T	rs146219216	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:52147553C>T	uc003pan.1	-	3	408	c.298G>A	c.(298-300)GTA>ATA	p.V100I	MCM3_uc011dwu.1_Missense_Mutation_p.V54I	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	100					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)					TCCAGTCCTACGTAGAACTCC	0.537												
DST	667	broad.mit.edu	37	6	56505071	56505071	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:56505071A>G	uc003pdf.2	-	17	2289	c.2261T>C	c.(2260-2262)TTG>TCG	p.L754S	DST_uc003pcz.3_Missense_Mutation_p.L576S|DST_uc011dxj.1_Missense_Mutation_p.L605S|DST_uc011dxk.1_Missense_Mutation_p.L616S|DST_uc011dxl.1_Missense_Mutation_p.L605S|DST_uc003pcy.3_Missense_Mutation_p.L250S|DST_uc003pdb.2_Missense_Mutation_p.L250S|DST_uc003pdc.3_Missense_Mutation_p.L250S|DST_uc003pdd.3_Missense_Mutation_p.L250S|DST_uc003pde.2_Missense_Mutation_p.L692S	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	576					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAAAGTTTGCAATGAATTTGG	0.393												
PHF3	23469	broad.mit.edu	37	6	64410295	64410295	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:64410295T>C	uc003pep.1	+	8	3064	c.3038T>C	c.(3037-3039)ATG>ACG	p.M1013T	PHF3_uc010kah.1_Missense_Mutation_p.M827T|PHF3_uc003pen.2_Missense_Mutation_p.M925T|PHF3_uc011dxs.1_Missense_Mutation_p.M282T	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1013	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTTATCAGAATGAGTCCAGAA	0.323												
BAI3	577	broad.mit.edu	37	6	70071100	70071100	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:70071100C>T	uc003pev.3	+	29	4383	c.3935C>T	c.(3934-3936)CCC>CTC	p.P1312L	BAI3_uc010kak.2_Missense_Mutation_p.P1312L|BAI3_uc011dxx.1_Missense_Mutation_p.P518L	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1312	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				ATTGTGATGCCCAGAAGTTCT	0.393												
COL9A1	1297	broad.mit.edu	37	6	70942395	70942395	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:70942395A>G	uc003pfg.3	-	36	2553	c.2394T>C	c.(2392-2394)CCT>CCC	p.P798P	COL9A1_uc003pfe.3_Silent_p.P347P|COL9A1_uc003pff.3_Silent_p.P555P	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	798	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CGGGGGGACCAGGAGGGCCAG	0.572												
FAM135A	57579	broad.mit.edu	37	6	71236346	71236346	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:71236346A>G	uc003pfj.2	+	13	3692	c.3559A>G	c.(3559-3561)AAC>GAC	p.N1187D	FAM135A_uc003pfi.2_Missense_Mutation_p.N991D|FAM135A_uc003pfh.2_Missense_Mutation_p.N974D|FAM135A_uc003pfl.2_Missense_Mutation_p.N854D|FAM135A_uc003pfn.2_Missense_Mutation_p.N393D|FAM135A_uc003pfo.1_Missense_Mutation_p.N558D|FAM135A_uc010kan.1_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	1187										central_nervous_system(1)	1						TACTTCTTACAACTTCACTTC	0.373												
KCNQ5	56479	broad.mit.edu	37	6	73332154	73332154	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:73332154C>T	uc003pgk.2	+	1	584	c.237C>T	c.(235-237)CGC>CGT	p.R79R	KCNQ5_uc003pgj.3_Silent_p.R79R|KCNQ5_uc011dyh.1_Silent_p.R79R|KCNQ5_uc011dyi.1_Silent_p.R79R|KCNQ5_uc010kat.2_Silent_p.R79R|KCNQ5_uc011dyj.1_Silent_p.R79R|KCNQ5_uc011dyk.1_5'UTR	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	79					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGGAGAGCCGCCGGGGCAAGC	0.726												
FILIP1	27145	broad.mit.edu	37	6	76124616	76124616	+	Missense_Mutation	SNP	C	C	T	rs112240066		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:76124616C>T	uc003pia.2	-	2	446	c.73G>A	c.(73-75)GGC>AGC	p.G25S	FILIP1_uc003phy.1_Missense_Mutation_p.G25S|FILIP1_uc010kbe.2_Missense_Mutation_p.G28S	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	25										skin(3)|ovary(1)	4						CCAGCATTGCCGATGATGGAG	0.433												
TTK	7272	broad.mit.edu	37	6	80721602	80721602	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:80721602G>A	uc003pjc.2	+	8	876	c.802_splice	c.e8-1	p.S268_splice	TTK_uc003pjb.3_Splice_Site_p.S268_splice	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase						mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AATATTTTTAGTCATGCCCAT	0.333												
PGM3	5238	broad.mit.edu	37	6	83900647	83900647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:83900647G>A	uc003pjv.2	-	2	125	c.85C>T	c.(85-87)CGA>TGA	p.R29*	PGM3_uc003pjw.2_Intron|PGM3_uc011dyz.1_Nonsense_Mutation_p.R57*|RWDD2A_uc003pjx.3_5'Flank|RWDD2A_uc011dza.1_5'Flank	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	29					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GCCTTCGTTCGAAATCCAGCA	0.413												
RWDD2A	112611	broad.mit.edu	37	6	83905457	83905457	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:83905457A>G	uc003pjx.3	+	3	616	c.345A>G	c.(343-345)CCA>CCG	p.P115P	PGM3_uc003pjv.2_5'Flank|PGM3_uc003pjw.2_5'Flank|PGM3_uc011dyz.1_5'Flank|RWDD2A_uc011dza.1_Silent_p.P40P	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	115	RWD.										0		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		CTTTTGATCCAGGTGAGCTCT	0.438												
KIAA1009	22832	broad.mit.edu	37	6	84862646	84862646	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:84862646C>T	uc010kbp.2	-	23	3344	c.3247G>A	c.(3247-3249)GCT>ACT	p.A1083T	KIAA1009_uc003pkj.3_Missense_Mutation_p.A1007T|KIAA1009_uc003pki.3_Missense_Mutation_p.A469T	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	1083	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTAGCTTTAGCATGAGCCTGT	0.368												
SNX14	57231	broad.mit.edu	37	6	86223788	86223788	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:86223788C>A	uc003pkr.2	-	25	2750	c.2557G>T	c.(2557-2559)GAT>TAT	p.D853Y	SNX14_uc003pkp.2_Missense_Mutation_p.D716Y|SNX14_uc003pkq.2_Missense_Mutation_p.D459Y|SNX14_uc011dzg.1_Missense_Mutation_p.D801Y|SNX14_uc003pks.2_Missense_Mutation_p.D800Y|SNX14_uc003pkt.2_Missense_Mutation_p.D844Y	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	853					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AAATACAAACCTCTGAGAAGT	0.318												
SYNCRIP	10492	broad.mit.edu	37	6	86329093	86329093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:86329093C>A	uc003pla.2	-	9	1592	c.1051G>T	c.(1051-1053)GAA>TAA	p.E351*	SYNCRIP_uc003pku.2_Nonsense_Mutation_p.E351*|SYNCRIP_uc003pkw.2_Nonsense_Mutation_p.E316*|SYNCRIP_uc003pky.2_Nonsense_Mutation_p.E253*|SYNCRIP_uc003pkv.2_Nonsense_Mutation_p.E351*|SYNCRIP_uc003pkx.2_Nonsense_Mutation_p.E199*|SYNCRIP_uc003pkz.2_Nonsense_Mutation_p.E316*	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	351	RRM 3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAATCTCTTCTGTTACAGTA	0.388												
ZNF292	23036	broad.mit.edu	37	6	87965428	87965428	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:87965428A>G	uc003plm.3	+	8	2122	c.2081A>G	c.(2080-2082)TAC>TGC	p.Y694C		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	694	C2H2-type 2.				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)		GGCTTTAAGTACTTTAAAAAT	0.353												
CNR1	1268	broad.mit.edu	37	6	88853738	88853738	+	Missense_Mutation	SNP	G	G	A	rs78783387		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:88853738G>A	uc011dzq.1	-	2	4819	c.1256C>T	c.(1255-1257)GCG>GTG	p.A419V	CNR1_uc010kbz.2_Missense_Mutation_p.A419V|CNR1_uc011dzr.1_Missense_Mutation_p.A419V|CNR1_uc011dzs.1_Missense_Mutation_p.A419V|CNR1_uc003pmq.3_Missense_Mutation_p.A419V|CNR1_uc011dzt.1_Missense_Mutation_p.A419V|CNR1_uc010kca.2_Missense_Mutation_p.A386V	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	419	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CAGAGGCTGCGCAGTGCCTTC	0.562												
CNR1	1268	broad.mit.edu	37	6	88853864	88853864	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:88853864G>A	uc011dzq.1	-	2	4693	c.1130C>T	c.(1129-1131)ACG>ATG	p.T377M	CNR1_uc010kbz.2_Missense_Mutation_p.T377M|CNR1_uc011dzr.1_Missense_Mutation_p.T377M|CNR1_uc011dzs.1_Missense_Mutation_p.T377M|CNR1_uc003pmq.3_Missense_Mutation_p.T377M|CNR1_uc011dzt.1_Missense_Mutation_p.T377M|CNR1_uc010kca.2_Missense_Mutation_p.T344M	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	377	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGCAAACACCGTCTTAATGAG	0.522												
GABRR2	2570	broad.mit.edu	37	6	90009487	90009487	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:90009487C>T	uc003pnb.2	-	2	294	c.286G>A	c.(286-288)GCC>ACC	p.A96T		NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	96	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				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)		CCTCCGAAGGCGGGTCTCATG	0.562												
ANKRD6	22881	broad.mit.edu	37	6	90276717	90276717	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:90276717G>A	uc003pni.3	+	2	363	c.22G>A	c.(22-24)GCT>ACT	p.A8T	ANKRD6_uc003pne.3_Missense_Mutation_p.A8T|ANKRD6_uc003pnf.3_Missense_Mutation_p.A8T|ANKRD6_uc011dzy.1_Missense_Mutation_p.A8T|ANKRD6_uc010kcd.2_Missense_Mutation_p.A8T	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	8							protein binding			ovary(2)|pancreas(1)	3		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGATGCGGTCGCTGCACTTTC	0.537												
MANEA	79694	broad.mit.edu	37	6	96054112	96054112	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:96054112A>C	uc003poo.1	+	5	1360	c.1220A>C	c.(1219-1221)GAA>GCA	p.E407A		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	407	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GAGTGGCATGAAGGAACTCAG	0.433												
SIM1	6492	broad.mit.edu	37	6	100896023	100896023	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:100896023C>T	uc003pqj.3	-	7	1056	c.849G>A	c.(847-849)TTG>TTA	p.L283L	SIM1_uc010kcu.2_Silent_p.L283L	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	283	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCGCCTTACGCAAATGGTGCG	0.617												
ASCC3	10973	broad.mit.edu	37	6	100957932	100957932	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:100957932C>T	uc003pqk.2	-	41	6666	c.6337G>A	c.(6337-6339)GAA>AAA	p.E2113K		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	2113	SEC63 3.				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)		AACCATCCTTCGTCTTTTGAT	0.353												
MICAL1	64780	broad.mit.edu	37	6	109772894	109772894	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:109772894A>C	uc003ptj.2	-	6	1096	c.842T>G	c.(841-843)CTG>CGG	p.L281R	MICAL1_uc003ptk.2_Missense_Mutation_p.L281R|MICAL1_uc010kdr.2_Missense_Mutation_p.L281R|MICAL1_uc011eaq.1_Missense_Mutation_p.L300R	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	281					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AATGTTCTCCAGATCAATGCC	0.557												
FIG4	9896	broad.mit.edu	37	6	110083385	110083385	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:110083385T>C	uc003ptt.2	+	12	1578	c.1363T>C	c.(1363-1365)TGT>CGT	p.C455R	FIG4_uc011eau.1_Missense_Mutation_p.C178R	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Sac domain-containing inositol phosphatase 3	455	SAC.				cell death	endosome membrane	protein binding			ovary(1)	1		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TGATTCTTACTGTAGCATTTT	0.353												
CDC40	51362	broad.mit.edu	37	6	110540593	110540593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:110540593C>T	uc003pua.2	+	11	1141	c.1117C>T	c.(1117-1119)CGA>TGA	p.R373*		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	373	WD 3.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ATTTACAAACCGAAAAGTACC	0.323												
CDK19	23097	broad.mit.edu	37	6	110991683	110991683	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:110991683C>T	uc003puh.1	-	3	339	c.266G>A	c.(265-267)AGT>AAT	p.S89N	CDK19_uc003pui.1_Missense_Mutation_p.S29N	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	cell division cycle 2-like 6 (CDK8-like)	89	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						CTTCCTGTCACTGTGAGAAAG	0.413												
WISP3	8838	broad.mit.edu	37	6	112385971	112385971	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:112385971T>C	uc003pvm.2	+	4	470	c.360T>C	c.(358-360)GTT>GTC	p.V120V	WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Silent_p.V138V	NM_003880	NP_003871	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	120					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding				0		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TTGTAGCTGTTGGGTGCGAGT	0.453												
LAMA4	3910	broad.mit.edu	37	6	112462050	112462050	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:112462050T>C	uc003pvu.2	-	22	3197	c.2888A>G	c.(2887-2889)AAG>AGG	p.K963R	LAMA4_uc003pvv.2_Missense_Mutation_p.K956R|LAMA4_uc003pvt.2_Missense_Mutation_p.K956R	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	963	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAATTCCCCCTTTTTAATGAA	0.438												
LAMA4	3910	broad.mit.edu	37	6	112508695	112508695	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:112508695T>C	uc003pvu.2	-	8	1232	c.923A>G	c.(922-924)CAT>CGT	p.H308R	LAMA4_uc003pvv.2_Missense_Mutation_p.H301R|LAMA4_uc003pvt.2_Missense_Mutation_p.H301R	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	308	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACGTGCCTATGAGCGGCGGC	0.557												
TSPYL1	7259	broad.mit.edu	37	6	116599992	116599992	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:116599992C>T	uc003pwp.3	-	1	1289	c.1002G>A	c.(1000-1002)AAG>AAA	p.K334K	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	334					nucleosome assembly	nucleolus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		TGACAATCAGCTTGTTTCTGA	0.453												
RSPH4A	345895	broad.mit.edu	37	6	116949323	116949323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:116949323C>T	uc003pxe.2	+	3	1598	c.1453C>T	c.(1453-1455)CGA>TGA	p.R485*	RSPH4A_uc010kee.2_Nonsense_Mutation_p.R485*	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	485					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						TAATTATTTACGAGCACAAAT	0.433									Kartagener_syndrome			
ROS1	6098	broad.mit.edu	37	6	117662566	117662566	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:117662566T>C	uc003pxp.1	-	29	5098	c.4899A>G	c.(4897-4899)TTA>TTG	p.L1633L	ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1633	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTGTACCTTTAACACATAAA	0.388			T	GOPC|ROS1	glioblastoma|NSCLC							
FAM184A	79632	broad.mit.edu	37	6	119300538	119300538	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:119300538G>T	uc003pyj.2	-	11	2795	c.2447C>A	c.(2446-2448)GCT>GAT	p.A816D	FAM184A_uc003pyk.3_Missense_Mutation_p.A696D|FAM184A_uc003pyl.3_Missense_Mutation_p.A696D	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	816										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						ACCAAGCATAGCCTTTCCTTC	0.318												
C6orf192	116843	broad.mit.edu	37	6	133097497	133097497	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:133097497T>C	uc003qdw.1	-	8	1019	c.867A>G	c.(865-867)CCA>CCG	p.P289P	C6orf192_uc010kgd.1_RNA|C6orf192_uc011eco.1_Silent_p.P163P	NM_052831	NP_439896	Q6NT16	CF192_HUMAN	hypothetical protein LOC116843	289	Helical; (Potential).				transmembrane transport	integral to membrane				ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)		GACCAAATAGTGGTGAAGAGA	0.373												
TCF21	6943	broad.mit.edu	37	6	134210812	134210812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:134210812C>T	uc003qei.3	+	1	553	c.277C>T	c.(277-279)CGA>TGA	p.R93*	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Nonsense_Mutation_p.R93*	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	93	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGCCCGCATGCGAGTGCTGAG	0.687												
MAP3K5	4217	broad.mit.edu	37	6	136904865	136904865	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:136904865G>A	uc003qhc.2	-	24	3600	c.3239C>T	c.(3238-3240)CCG>CTG	p.P1080L	MAP3K5_uc011edj.1_Missense_Mutation_p.P327L|MAP3K5_uc011edk.1_Missense_Mutation_p.P926L	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	1080					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTTAGTTTCGGTTCTTCAGC	0.453												
OLIG3	167826	broad.mit.edu	37	6	137814991	137814991	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:137814991A>C	uc003qhp.1	-	1	541	c.317T>G	c.(316-318)CTG>CGG	p.L106R		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	106	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GACTTCGCGCAGCCCGTCCAT	0.602												
OLIG3	167826	broad.mit.edu	37	6	137815186	137815186	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:137815186G>A	uc003qhp.1	-	1	346	c.122C>T	c.(121-123)TCG>TTG	p.S41L		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CTGCGTGGACGAGACCGAGTT	0.512												
KIAA1244	57221	broad.mit.edu	37	6	138491847	138491847	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:138491847T>C	uc003qhu.2	+	2	134	c.134T>C	c.(133-135)CTG>CCG	p.L45P		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	45					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)		CCACATGTACTGAGGTAGGAG	0.328												
HIVEP2	3097	broad.mit.edu	37	6	143092525	143092525	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:143092525G>A	uc003qjd.2	-	5	4094	c.3351C>T	c.(3349-3351)TCC>TCT	p.S1117S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGTGCCACCCGGACCGGAGGC	0.657												
STX11	8676	broad.mit.edu	37	6	144508363	144508363	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:144508363C>T	uc003qks.3	+	2	791	c.599C>T	c.(598-600)GCG>GTG	p.A200V		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	200				ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031).|A -> V (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GTGAAGGGCGCGCGGGCCGCC	0.632									Familial_Hemophagocytic_Lymphohistiocytosis			
FBXO30	84085	broad.mit.edu	37	6	146125877	146125877	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:146125877G>A	uc003qla.2	-	2	1864	c.1665C>T	c.(1663-1665)TGC>TGT	p.C555C	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	555							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AAGCTAAAGGGCACCTCTGTT	0.413												
AKAP12	9590	broad.mit.edu	37	6	151672364	151672364	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:151672364A>G	uc011eep.1	+	4	3078	c.2838A>G	c.(2836-2838)GAA>GAG	p.E946E	AKAP12_uc003qoe.2_Silent_p.E946E|AKAP12_uc003qof.2_Silent_p.E848E|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.E841E	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	946				E -> G (in Ref. 4; CAH18338).	G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CAGAAGAAGAACCCCCCACGG	0.527												
ZBTB2	57621	broad.mit.edu	37	6	151687265	151687265	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:151687265G>A	uc003qoh.2	-	3	1071	c.936C>T	c.(934-936)GCC>GCT	p.A312A		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TTATCATCCCGGCTTCAGGCA	0.547												
SYNE1	23345	broad.mit.edu	37	6	152697977	152697977	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:152697977C>A	uc010kiw.2	-	57	9682	c.9080G>T	c.(9079-9081)TGT>TTT	p.C3027F	SYNE1_uc003qot.3_Missense_Mutation_p.C3034F|SYNE1_uc003qou.3_Missense_Mutation_p.C3027F|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.C105F|SYNE1_uc010kjb.1_Missense_Mutation_p.C3010F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3027	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAAAATCGACAAAGTTCATT	0.393										HNSCC(10;0.0054)		
OPRM1	4988	broad.mit.edu	37	6	154360691	154360691	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:154360691C>T	uc003qpr.2	+	1	249	c.12C>T	c.(10-12)AGC>AGT	p.S4S	OPRM1_uc011efb.1_Silent_p.S52S|OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Silent_p.S97S|OPRM1_uc003qpn.2_Silent_p.S4S|OPRM1_uc003qpo.1_Silent_p.S4S|OPRM1_uc011eff.1_Silent_p.S4S|OPRM1_uc011efg.1_Silent_p.S4S|OPRM1_uc011efh.1_Silent_p.S4S|OPRM1_uc003qpq.1_Silent_p.S4S|OPRM1_uc003qpt.1_Silent_p.S4S|OPRM1_uc011efi.1_Silent_p.S4S|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	4	Extracellular (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)	TGGACAGCAGCGCTGCCCCCA	0.632												
SNX9	51429	broad.mit.edu	37	6	158342683	158342683	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:158342683G>T	uc003qqv.1	+	10	1243	c.1070G>T	c.(1069-1071)CGA>CTA	p.R357L		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	357	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTAAATTTCCGAGATGAGAAG	0.398												
TULP4	56995	broad.mit.edu	37	6	158834166	158834166	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:158834166G>A	uc003qrf.2	+	2	1679	c.322G>A	c.(322-324)GTG>ATG	p.V108M	TULP4_uc011efo.1_Missense_Mutation_p.V108M|TULP4_uc003qrg.2_Missense_Mutation_p.V108M	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	108	WD 1.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGGCATATTCGTGTGGATTCA	0.597												
TCP1	6950	broad.mit.edu	37	6	160208881	160208881	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:160208881C>T	uc003qsr.2	-	3	408	c.173G>A	c.(172-174)GGT>GAT	p.G58D	TCP1_uc003qss.2_Translation_Start_Site|TCP1_uc010kjz.2_Missense_Mutation_p.G58D|TCP1_uc003qst.2_Translation_Start_Site|SNORA29_uc003qsv.1_5'Flank|MRPL18_uc010kkb.2_5'Flank|MRPL18_uc003qsw.3_5'Flank	NM_030752	NP_110379	P17987	TCPA_HUMAN	T-complex protein 1 isoform a	58					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GATGGTTGCACCATCGTTAGT	0.398												
IGF2R	3482	broad.mit.edu	37	6	160412301	160412301	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:160412301C>T	uc003qta.2	+	2	383	c.235C>T	c.(235-237)CCA>TCA	p.P79S		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	79	1.|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)		CCAGTGCGGGCCATCAAGTGC	0.398												
MAP3K4	4216	broad.mit.edu	37	6	161470941	161470941	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:161470941T>G	uc003qtn.2	+	3	1779	c.1637T>G	c.(1636-1638)CTT>CGT	p.L546R	MAP3K4_uc010kkc.1_Missense_Mutation_p.L546R|MAP3K4_uc003qto.2_Missense_Mutation_p.L546R|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	546					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATTTTAAGACTTCACAAGCTA	0.393												
PACRG	135138	broad.mit.edu	37	6	163149367	163149367	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:163149367C>T	uc003qua.2	+	2	324	c.100C>T	c.(100-102)CCT>TCT	p.P34S	PARK2_uc003qtx.3_5'Flank|PARK2_uc003qty.3_5'Flank|PARK2_uc003qtz.3_5'Flank|PARK2_uc010kke.1_5'Flank|PACRG_uc003qub.2_Missense_Mutation_p.P34S|PACRG_uc003quc.2_Missense_Mutation_p.P34S	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	parkin co-regulated gene protein isoform 1	34											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)		GGTGCACCAGCCTCACTCTCT	0.502												
PDE10A	10846	broad.mit.edu	37	6	165844917	165844917	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:165844917T>C	uc003qun.2	-	9	948	c.707A>G	c.(706-708)CAG>CGG	p.Q236R	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.Q166R|PDE10A_uc003quo.2_Missense_Mutation_p.Q246R	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	236					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CACCTGCACCTGATGTATTGC	0.403												
HEATR2	54919	broad.mit.edu	37	7	780505	780505	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:780505G>A	uc010krz.1	+	3	850	c.830G>A	c.(829-831)CGT>CAT	p.R277H	HEATR2_uc003siz.2_Missense_Mutation_p.R145H	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	277	HEAT 3.						protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTGTGTCTGCGTGACCGTTAC	0.652												
CYP2W1	54905	broad.mit.edu	37	7	1026412	1026412	+	Silent	SNP	C	C	T	rs146145322		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:1026412C>T	uc003sjq.1	+	5	811	c.798C>T	c.(796-798)GAC>GAT	p.D266D	CYP2W1_uc003sjr.1_Silent_p.D266D	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W,	266					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCTATGTGGACGCCCTGATCC	0.682												
INTS1	26173	broad.mit.edu	37	7	1518062	1518062	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:1518062C>T	uc003skn.2	-	33	4671	c.4570G>A	c.(4570-4572)GTC>ATC	p.V1524I	INTS1_uc003skm.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1524					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTGGCGATGACGGCACGGACG	0.682												
INTS1	26173	broad.mit.edu	37	7	1519094	1519094	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:1519094G>A	uc003skn.2	-	31	4402	c.4301C>T	c.(4300-4302)CCG>CTG	p.P1434L		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	1434					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGCAGCAGCGGGCAGGCCAG	0.701												
MAD1L1	8379	broad.mit.edu	37	7	1997278	1997278	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:1997278G>A	uc003slh.1	-	16	1848	c.1582C>T	c.(1582-1584)CGG>TGG	p.R528W	MAD1L1_uc003sle.1_Missense_Mutation_p.R257W|MAD1L1_uc003slf.1_Missense_Mutation_p.R528W|MAD1L1_uc003slg.1_Missense_Mutation_p.R528W|MAD1L1_uc010ksh.1_Missense_Mutation_p.R528W|MAD1L1_uc003sli.1_Missense_Mutation_p.R436W|MAD1L1_uc010ksi.1_Missense_Mutation_p.R481W|MAD1L1_uc010ksj.2_Missense_Mutation_p.R528W	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN	MAD1-like 1 protein	528	Necessary for interaction with NEK2.|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)		AGAGCTCGCCGCTCCAGCTGT	0.637												
NUDT1	4521	broad.mit.edu	37	7	2290474	2290474	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:2290474A>G	uc003slp.1	+	5	480	c.378A>G	c.(376-378)CCA>CCG	p.P126P	NUDT1_uc003slq.1_Silent_p.P103P|NUDT1_uc003slr.1_Silent_p.P103P|NUDT1_uc003sls.1_Silent_p.P126P|NUDT1_uc003slt.1_Silent_p.P103P|NUDT1_uc003slu.1_Silent_p.P126P|NUDT1_uc003slv.1_Silent_p.P103P	NM_198949	NP_945187	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	144	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		AAATGCGCCCATGCTGGTTCC	0.443								Direct_reversal_of_damage|Modulation_of_nucleotide_pools				
NUDT1	4521	broad.mit.edu	37	7	2290630	2290630	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:2290630G>A	uc003slp.1	+	5	636	c.534G>A	c.(532-534)ACG>ACA	p.T178T	NUDT1_uc003slq.1_Silent_p.T155T|NUDT1_uc003slr.1_Silent_p.T155T|NUDT1_uc003sls.1_Silent_p.T178T|NUDT1_uc003slt.1_Silent_p.T155T|NUDT1_uc003slu.1_Silent_p.T178T|NUDT1_uc003slv.1_Silent_p.T155T	NM_198949	NP_945187	P36639	8ODP_HUMAN	nudix-type motif 1 isoform p22	196					DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding				0		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		AGGTGGACACGGTCTAGCGGG	0.602								Direct_reversal_of_damage|Modulation_of_nucleotide_pools				
TTYH3	80727	broad.mit.edu	37	7	2701302	2701302	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:2701302T>C	uc003smp.2	+	14	1688	c.1501T>C	c.(1501-1503)TAC>CAC	p.Y501H	TTYH3_uc010ksn.2_Missense_Mutation_p.Y221H|TTYH3_uc003smq.2_Missense_Mutation_p.Y330H	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	501	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTCCCTCCAGTACACCTCCAG	0.687												
SDK1	221935	broad.mit.edu	37	7	4002413	4002413	+	Silent	SNP	C	C	T	rs141891693	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:4002413C>T	uc003smx.2	+	9	1498	c.1359C>T	c.(1357-1359)TCC>TCT	p.S453S		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	453	Ig-like C2-type 4.				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)		CAGAGGACTCCGGAATCTTCC	0.577												
SDK1	221935	broad.mit.edu	37	7	4185463	4185463	+	Silent	SNP	C	C	T	rs139222484	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:4185463C>T	uc003smx.2	+	29	4477	c.4338C>T	c.(4336-4338)TCC>TCT	p.S1446S	SDK1_uc010kso.2_Silent_p.S722S|SDK1_uc003smy.2_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1446	Fibronectin type-III 8.				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)		CCCCGGAGTCCGCATACATCT	0.662												
MMD2	221938	broad.mit.edu	37	7	4955655	4955655	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:4955655C>T	uc003sno.3	-	4	542	c.346G>A	c.(346-348)GCG>ACG	p.A116T	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.A116T|MMD2_uc010ksq.2_Missense_Mutation_p.A116T	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	116	Helical; (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TAGGAAGCCGCTATGAAGAAA	0.537												
FBXL18	80028	broad.mit.edu	37	7	5540534	5540534	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:5540534C>T	uc003soo.2	-	3	1460	c.1366G>A	c.(1366-1368)GTG>ATG	p.V456M	FBXL18_uc003son.3_Missense_Mutation_p.V456M	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	456										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CAGGACTGCACGCCCACACGC	0.522												
FBXL18	80028	broad.mit.edu	37	7	5540845	5540845	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:5540845C>T	uc003soo.2	-	3	1149	c.1055G>A	c.(1054-1056)GGC>GAC	p.G352D	FBXL18_uc003son.3_Missense_Mutation_p.G352D	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	352	LRR 5.									central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GTGGACGCAGCCGCTGAGGTT	0.637												
AIMP2	7965	broad.mit.edu	37	7	6063150	6063150	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:6063150G>T	uc003spo.2	+	4	904	c.791G>T	c.(790-792)GGG>GTG	p.G264V	EIF2AK1_uc003spp.2_3'UTR|EIF2AK1_uc003spq.2_3'UTR	NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	264	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1						TCTGCTCTTGGGAAGAGCCCT	0.512												
USP42	84132	broad.mit.edu	37	7	6193713	6193713	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:6193713C>T	uc011jwo.1	+	15	2651	c.2528C>T	c.(2527-2529)CCG>CTG	p.P843L	USP42_uc011jwp.1_Missense_Mutation_p.P843L|USP42_uc011jwq.1_Missense_Mutation_p.P650L|USP42_uc011jwr.1_Missense_Mutation_p.P688L	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	843	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GCGGAGGGCCCGCGGGACTCG	0.692												
DAGLB	221955	broad.mit.edu	37	7	6449537	6449537	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:6449537G>A	uc003sqa.2	-	15	2120	c.1950C>T	c.(1948-1950)AGC>AGT	p.S650S	DAGLB_uc003spy.2_Silent_p.S196S|DAGLB_uc003spz.2_Silent_p.S347S|DAGLB_uc011jwt.1_Silent_p.S464S|DAGLB_uc011jwu.1_Silent_p.S521S|DAGLB_uc003sqb.2_Silent_p.S369S|DAGLB_uc003sqc.2_Silent_p.S369S|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.S609S	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	650	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CGGAGACCACGCTGTCCAAGG	0.597												
ZNF12	7559	broad.mit.edu	37	7	6730792	6730792	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:6730792C>T	uc003sqt.1	-	5	2335	c.1781G>A	c.(1780-1782)CGA>CAA	p.R594Q	ZNF12_uc011jxa.1_Missense_Mutation_p.R432Q|ZNF12_uc003sqs.1_Missense_Mutation_p.R556Q	NM_016265	NP_057349	P17014	ZNF12_HUMAN	zinc finger protein 12 isoform a	594	C2H2-type 12.				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)		TCTCTGATGTCGATTAAGGGC	0.408												
SCIN	85477	broad.mit.edu	37	7	12675760	12675760	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:12675760G>T	uc003ssn.3	+	10	1620	c.1410G>T	c.(1408-1410)CAG>CAT	p.Q470H	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.Q223H	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	470	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AGGCTGTGCAGGTTGGGATAT	0.468												
DGKB	1607	broad.mit.edu	37	7	14647098	14647098	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:14647098C>T	uc003ssz.2	-	16	1584	c.1397G>A	c.(1396-1398)CGT>CAT	p.R466H	DGKB_uc011jxt.1_Missense_Mutation_p.R447H|DGKB_uc003sta.2_Missense_Mutation_p.R466H|DGKB_uc011jxu.1_Missense_Mutation_p.R465H	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	466	DAGKc.				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	p.R466G(1)		lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	GTAAACCTGACGAGGATTTAA	0.269												
AGR3	155465	broad.mit.edu	37	7	16913426	16913426	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:16913426C>A	uc003sts.2	-	3	224	c.151G>T	c.(151-153)GGT>TGT	p.G51C		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	breast cancer membrane protein 11 precursor	51						extracellular region					0	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TAAAAGAGACCTTCTTCATAA	0.299												
SNX13	23161	broad.mit.edu	37	7	17861275	17861275	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:17861275C>T	uc003stw.1	-	18	1948	c.1735G>A	c.(1735-1737)GCA>ACA	p.A579T	SNX13_uc003stv.2_Intron|SNX13_uc010kuc.2_Intron|SNX13_uc010kub.2_5'UTR			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	579	PX.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CAAACGCCTGCCACAGCATAT	0.398												
ITGB8	3696	broad.mit.edu	37	7	20406735	20406735	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:20406735A>G	uc003suu.2	+	3	1019	c.314A>G	c.(313-315)CAT>CGT	p.H105R	ITGB8_uc011jyh.1_5'UTR|ITGB8_uc003sut.2_Missense_Mutation_p.H105R	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	105	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						CCATCTGTGCATGTTATAATA	0.373												
ITGB8	3696	broad.mit.edu	37	7	20441713	20441713	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:20441713T>C	uc003suu.2	+	10	2356	c.1651T>C	c.(1651-1653)TTT>CTT	p.F551L	ITGB8_uc011jyh.1_Missense_Mutation_p.F416L	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	551	Cysteine-rich tandem repeats.|II.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						AAAGGATGACTTTTCTTGTCC	0.378												
ABCB5	340273	broad.mit.edu	37	7	20778638	20778638	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:20778638C>T	uc003suw.3	+	15	2111	c.1565C>T	c.(1564-1566)GCC>GTC	p.A522V	ABCB5_uc010kuh.2_Missense_Mutation_p.A967V	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	522	Helical; (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						GGAGCTATGGCCATCGGAGAA	0.408												
DNAH11	8701	broad.mit.edu	37	7	21639578	21639578	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:21639578A>G	uc003svc.2	+	15	2872	c.2841A>G	c.(2839-2841)CAA>CAG	p.Q947Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	947	Stem (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						TTCAAGCACAAATGATCTTGT	0.403									Kartagener_syndrome			
DNAH11	8701	broad.mit.edu	37	7	21778372	21778372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:21778372G>T	uc003svc.2	+	48	7751	c.7720G>T	c.(7720-7722)GGA>TGA	p.G2574*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2574	AAA 3 (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						TGGTCCTGGAGGAAATAAAAA	0.388									Kartagener_syndrome			
DNAH11	8701	broad.mit.edu	37	7	21784143	21784143	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:21784143G>T	uc003svc.2	+	51	8294	c.8263G>T	c.(8263-8265)GAC>TAC	p.D2755Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2755					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						TGTTTATGGAGACAAACTGAT	0.368									Kartagener_syndrome			
RAPGEF5	9771	broad.mit.edu	37	7	22162082	22162082	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:22162082A>G	uc003svg.2	-	26	2448	c.2135T>C	c.(2134-2136)GTC>GCC	p.V712A		NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	562	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			ovary(1)	1						GCTGTCAATGACATACAGGTG	0.502												
RAPGEF5	9771	broad.mit.edu	37	7	22176551	22176551	+	Silent	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:22176551T>G	uc003svg.2	-	22	2182	c.1869A>C	c.(1867-1869)ACA>ACC	p.T623T	RAPGEF5_uc011jyl.1_Silent_p.T304T	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	473	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			ovary(1)	1						AACTACTTACTGTTAAACTTT	0.343												
GPNMB	10457	broad.mit.edu	37	7	23296675	23296675	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:23296675C>A	uc003swc.2	+	4	693	c.532C>A	c.(532-534)CAC>AAC	p.H178N	GPNMB_uc003swa.2_Missense_Mutation_p.H178N|GPNMB_uc003swb.2_Missense_Mutation_p.H178N|GPNMB_uc011jyy.1_Intron|GPNMB_uc011jyz.1_Missense_Mutation_p.H79N	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	178	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			CTACGTCTTCCACACACTTGG	0.418												
GPNMB	10457	broad.mit.edu	37	7	23300169	23300169	+	Silent	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:23300169C>G	uc003swc.2	+	6	956	c.795C>G	c.(793-795)GTC>GTG	p.V265V	GPNMB_uc003swb.2_Silent_p.V265V|GPNMB_uc011jyy.1_Silent_p.V207V|GPNMB_uc011jyz.1_Silent_p.V166V	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	265	PKD.|Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			TGTTTGATGTCCTGATTCATG	0.408												
HNRNPA2B1	3181	broad.mit.edu	37	7	26236958	26236958	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:26236958G>A	uc003sxr.3	-	4	493	c.277C>T	c.(277-279)CCA>TCA	p.P93S	HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.P81S	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	93	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GCACGTTTTGGCTCAACTACT	0.418			T	ETV1	prostate							
HOXA1	3198	broad.mit.edu	37	7	27134370	27134370	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:27134370G>A	uc003sye.2	-	2	791	c.697C>T	c.(697-699)CGC>TGC	p.R233C	HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	233	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3						AAGTTGGTGCGCACCGCGTTG	0.537												
HOXA4	3201	broad.mit.edu	37	7	27168942	27168942	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:27168942C>T	uc003sym.3	-	2	912	c.865G>A	c.(865-867)GCC>ACC	p.A289T	HOXA3_uc003syk.2_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	homeobox A4	289						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CCGGCAGAGGCCGAGGCCGAA	0.388												
CREB5	9586	broad.mit.edu	37	7	28848848	28848848	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:28848848G>A	uc003szq.2	+	9	1461	c.1071G>A	c.(1069-1071)CAG>CAA	p.Q357Q	CREB5_uc003szo.2_Silent_p.Q324Q|CREB5_uc003szr.2_Silent_p.Q350Q|CREB5_uc003szs.2_Silent_p.Q218Q	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	357					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						AGACAATACAGCCACCCCAGC	0.622												
AVL9	23080	broad.mit.edu	37	7	32598822	32598822	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:32598822C>T	uc003tcv.1	+	10	1107	c.961C>T	c.(961-963)CGC>TGC	p.R321C	AVL9_uc011kai.1_Missense_Mutation_p.R321C|AVL9_uc010kwj.1_Missense_Mutation_p.R162C	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	321						integral to membrane					0						ACCTCCATCTCGCCCATCTCC	0.473												
KBTBD2	25948	broad.mit.edu	37	7	32909150	32909150	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:32909150C>T	uc003tdb.2	-	4	2338	c.1679G>A	c.(1678-1680)CGG>CAG	p.R560Q	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	560	Kelch 5.										0			GBM - Glioblastoma multiforme(11;0.0499)			CAGAGACCACCGGTCAAGTTC	0.468												
NPSR1	387129	broad.mit.edu	37	7	34724198	34724198	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:34724198T>C	uc003teg.1	+	2	310	c.182T>C	c.(181-183)GTT>GCT	p.V61A	AAA1_uc010kwo.1_Intron|AAA1_uc010kwp.1_Intron|AAA1_uc003tdz.2_Intron|AAA1_uc010kwq.1_Intron|AAA1_uc003teb.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.V61A|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.V61A|NPSR1_uc003tei.1_Missense_Mutation_p.V61A|NPSR1_uc010kww.1_Missense_Mutation_p.V61A|NPSR1_uc011kar.1_Missense_Mutation_p.V61A	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma	61	Helical; Name=1; (Potential).					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	GTCCTCTTTGTTTTTACCATT	0.418												
ANLN	54443	broad.mit.edu	37	7	36438710	36438710	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:36438710G>A	uc003tff.2	+	3	399	c.195G>A	c.(193-195)TCG>TCA	p.S65S	ANLN_uc011kaz.1_Intron|ANLN_uc003tfg.2_Silent_p.S65S|ANLN_uc010kxe.2_Silent_p.S65S	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	65	Nuclear localization.|Interaction with CD2AP.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3						CAAAACCATCGCCATCAAAAA	0.333												
ELMO1	9844	broad.mit.edu	37	7	36910080	36910080	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:36910080A>C	uc003tfk.1	-	20	2130	c.1823T>G	c.(1822-1824)CTG>CGG	p.L608R	ELMO1_uc003tfi.1_Missense_Mutation_p.L128R|ELMO1_uc003tfj.1_Missense_Mutation_p.L128R|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Missense_Mutation_p.L512R|ELMO1_uc010kxg.1_Missense_Mutation_p.L608R	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	608	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						TGCCACCGGCACTGCAATTCA	0.418												
AMPH	273	broad.mit.edu	37	7	38502674	38502674	+	Silent	SNP	C	C	T	rs148695925		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:38502674C>T	uc003tgu.2	-	10	858	c.789G>A	c.(787-789)CCG>CCA	p.P263P	AMPH_uc003tgv.2_Silent_p.P263P|AMPH_uc003tgt.2_Silent_p.P16P	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	263					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						GCTCCTCAGGCGGTGATGGTG	0.567												
POU6F2	11281	broad.mit.edu	37	7	39125534	39125534	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:39125534T>C	uc003thb.1	+	2	135	c.93T>C	c.(91-93)GGT>GGC	p.G31G	POU6F2_uc010kxo.2_Silent_p.G23G	NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	31					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						AGTTGAGAGGTGAGGACAAGG	0.532												
CDK13	8621	broad.mit.edu	37	7	40132784	40132784	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:40132784T>C	uc003thh.3	+	13	3918	c.3636T>C	c.(3634-3636)CAT>CAC	p.H1212H	CDK13_uc003thi.3_Silent_p.H1152H|CDK13_uc003thj.2_Silent_p.H263H|CDK13_uc003thk.2_Silent_p.H145H	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1212					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						GATCGGGACATGAAGCGTCAT	0.473												
C7orf11	136647	broad.mit.edu	37	7	40172675	40172675	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:40172675C>T	uc003thl.3	-	2	615	c.523G>A	c.(523-525)GGA>AGA	p.G175R	C7orf10_uc003thm.1_5'Flank|C7orf10_uc003thn.1_5'Flank|C7orf10_uc003tho.1_5'Flank	NM_138701	NP_619646	Q8TAP9	TTDN1_HUMAN	chromosome 7 open reading frame 11	175					cell division|mitosis	microtubule organizing center|nucleus				breast(1)	1						AAGTATCTTCCTTTTTTGCCT	0.373								Direct_reversal_of_damage|Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents				
GLI3	2737	broad.mit.edu	37	7	42005218	42005218	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:42005218G>A	uc011kbh.1	-	15	3544	c.3453C>T	c.(3451-3453)CCC>CCT	p.P1151P	GLI3_uc011kbg.1_Silent_p.P1092P	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1151					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						TGCTGCCCTCGGGGCAGGGCT	0.677									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
HECW1	23072	broad.mit.edu	37	7	43351403	43351403	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:43351403G>A	uc003tid.1	+	4	674	c.69G>A	c.(67-69)GCG>GCA	p.A23A	HECW1_uc011kbi.1_Silent_p.A23A|HECW1_uc003tie.1_Silent_p.A55A	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	23					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						CCGCCATGGCGTCTCCTTCTA	0.607												
URGCP	55665	broad.mit.edu	37	7	43916374	43916374	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:43916374A>G	uc003tiw.2	-	6	2745	c.2688T>C	c.(2686-2688)AGT>AGC	p.S896S	URGCP_uc003tiu.2_Silent_p.S853S|URGCP_uc003tiv.2_Silent_p.S821S|URGCP_uc003tix.2_Silent_p.S887S|URGCP_uc003tiy.2_Silent_p.S853S|URGCP_uc003tiz.2_Silent_p.S853S|URGCP_uc011kbj.1_Silent_p.S853S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	896					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						ATATGGCTTCACTGTAGGCCA	0.542												
AEBP1	165	broad.mit.edu	37	7	44147101	44147101	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:44147101A>G	uc003tkb.2	+	3	964	c.659A>G	c.(658-660)CAC>CGC	p.H220R		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	220	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCACGGGAGCACCAGCCTGGT	0.647												
NUDCD3	23386	broad.mit.edu	37	7	44467252	44467252	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:44467252C>T	uc003tkz.2	-	3	746	c.560G>A	c.(559-561)CGA>CAA	p.R187Q	NUDCD3_uc010kye.2_RNA	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	187	CS.										0						GTAGTTCTCTCGGACAGCACC	0.517												
OGDH	4967	broad.mit.edu	37	7	44747288	44747288	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:44747288C>T	uc003tln.2	+	22	3013	c.2904C>T	c.(2902-2904)TAC>TAT	p.Y968Y	OGDH_uc011kbx.1_Silent_p.Y964Y|OGDH_uc011kby.1_Silent_p.Y818Y|OGDH_uc003tlp.2_Silent_p.Y979Y|OGDH_uc011kbz.1_Silent_p.Y763Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	968					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	ACTATGACTACGTGAAGCCAA	0.597												
ZMIZ2	83637	broad.mit.edu	37	7	44805866	44805866	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:44805866C>A	uc003tlr.2	+	17	2469	c.2346C>A	c.(2344-2346)TCC>TCA	p.S782S	ZMIZ2_uc003tlq.2_Silent_p.S724S|ZMIZ2_uc003tls.2_Silent_p.S756S|ZMIZ2_uc003tlt.2_Silent_p.S405S|ZMIZ2_uc010kyj.2_Silent_p.S304S|ZMIZ2_uc003tlu.2_Silent_p.S63S|ZMIZ2_uc010kyk.1_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	782	Pro-rich.			S -> C (in Ref. 9).	positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CCCCCATCTCCTACCAGTCTG	0.637												
ADCY1	107	broad.mit.edu	37	7	45753552	45753552	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:45753552A>G	uc003tne.3	+	20	3336	c.3318A>G	c.(3316-3318)CCA>CCG	p.P1106P		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	1106	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)	CACACTCCCCAGGCCAGTACC	0.657												
PKD1L1	168507	broad.mit.edu	37	7	47917169	47917169	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:47917169C>T	uc003tny.1	-	22	3581	c.3581G>A	c.(3580-3582)CGG>CAG	p.R1194Q		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1194	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGCCATGTCCCGAGGAGCCGG	0.537												
PKD1L1	168507	broad.mit.edu	37	7	47921655	47921655	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:47921655T>C	uc003tny.1	-	20	3294	c.3294A>G	c.(3292-3294)GGA>GGG	p.G1098G		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1098	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						TCAAGCTAGGTCCTGATCCTG	0.493												
IKZF1	10320	broad.mit.edu	37	7	50468030	50468030	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:50468030C>T	uc003tow.3	+	9	1433	c.1265C>T	c.(1264-1266)GCG>GTG	p.A422V	IKZF1_uc003tox.3_Missense_Mutation_p.A380V|IKZF1_uc003toy.3_Missense_Mutation_p.A380V|IKZF1_uc011kck.1_Missense_Mutation_p.A335V|IKZF1_uc003toz.3_Missense_Mutation_p.A392V|IKZF1_uc010kyx.2_Missense_Mutation_p.A162V|IKZF1_uc003tpa.3_Missense_Mutation_p.A164V	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	422				PHARNGL -> RRAQRV (in Ref. 2; AAB50683).	cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCCCGCACGCGCGCAACGGG	0.677			D		ALL							
GRB10	2887	broad.mit.edu	37	7	50672995	50672995	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:50672995C>T	uc003tpi.2	-	12	1412	c.1381G>A	c.(1381-1383)GCC>ACC	p.A461T	GRB10_uc003tph.3_Missense_Mutation_p.A403T|GRB10_uc003tpj.2_Missense_Mutation_p.A415T|GRB10_uc003tpk.2_Missense_Mutation_p.A461T|GRB10_uc010kzb.2_Missense_Mutation_p.A403T|GRB10_uc003tpl.2_Missense_Mutation_p.A455T|GRB10_uc003tpm.2_Missense_Mutation_p.A403T|GRB10_uc003tpn.2_Missense_Mutation_p.A403T	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	461					insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					ACCCTCCAGGCGTGGCCCTCC	0.647									Russell-Silver_syndrome			
COBL	23242	broad.mit.edu	37	7	51111364	51111364	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:51111364G>A	uc003tpr.3	-	8	1307	c.1122C>T	c.(1120-1122)AGC>AGT	p.S374S	COBL_uc003tps.2_Silent_p.S431S|COBL_uc011kcl.1_Silent_p.S374S|COBL_uc010kzc.2_Silent_p.S374S|COBL_uc003tpp.3_Silent_p.S160S|COBL_uc003tpq.3_Silent_p.S315S	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	374										skin(3)|ovary(2)	5	Glioma(55;0.08)					GGCTGCAGTGGCTGCCAGACC	0.617												
POM121L12	285877	broad.mit.edu	37	7	53103709	53103709	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:53103709C>A	uc003tpz.2	+	1	361	c.345C>A	c.(343-345)GCC>GCA	p.A115A		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	115											0						TCTCCTGTGCCTGGGAGGGTT	0.711												
EGFR	1956	broad.mit.edu	37	7	55225437	55225437	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:55225437C>T	uc003tqk.2	+	11	1535	c.1289C>T	c.(1288-1290)ACC>ATC	p.T430I	EGFR_uc003tqi.2_Missense_Mutation_p.T430I|EGFR_uc003tqj.2_Missense_Mutation_p.T430I|EGFR_uc010kzg.1_Missense_Mutation_p.T385I|EGFR_uc011kco.1_Missense_Mutation_p.T377I|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	430	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			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)	CGCGGCAGGACCAAGCAACAG	0.348		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55229247	55229247	+	Silent	SNP	G	G	A	rs142429250	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:55229247G>A	uc003tqk.2	+	13	1800	c.1554G>A	c.(1552-1554)CCG>CCA	p.P518P	EGFR_uc003tqi.2_Silent_p.P518P|EGFR_uc003tqj.2_Silent_p.P518P|EGFR_uc010kzg.1_Silent_p.P473P|EGFR_uc011kco.1_Silent_p.P465P|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	518	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			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)	GCTGGGGCCCGGAGCCCAGGG	0.617		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
GUSB	2990	broad.mit.edu	37	7	65445306	65445306	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:65445306A>G	uc003tun.2	-	2	377	c.301T>C	c.(301-303)TAC>CAC	p.Y101H	GUSB_uc011kdt.1_Missense_Mutation_p.Y101H|GUSB_uc010kzw.1_5'UTR	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	101					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						TCCCGTTCGTACCACACCCAG	0.607												
GUSB	2990	broad.mit.edu	37	7	65447029	65447029	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:65447029G>T	uc003tun.2	-	1	218	c.142C>A	c.(142-144)CGC>AGC	p.R48S	GUSB_uc011kdt.1_Missense_Mutation_p.R48S|GUSB_uc010kzw.1_5'UTR	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	48					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						AAGTCGGCGCGGAAGCTCCAG	0.721												
TYW1	55253	broad.mit.edu	37	7	66548473	66548473	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:66548473T>C	uc003tvn.2	+	11	1480	c.1331T>C	c.(1330-1332)ATG>ACG	p.M444T	TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Missense_Mutation_p.M58T	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	444					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAGCCTGAAATGATCTTGAAG	0.428												
AUTS2	26053	broad.mit.edu	37	7	70250957	70250957	+	Silent	SNP	G	G	A	rs143340591		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:70250957G>A	uc003tvw.3	+	17	2984	c.2241G>A	c.(2239-2241)CCG>CCA	p.P747P	AUTS2_uc003tvx.3_Silent_p.P723P|AUTS2_uc011keg.1_Silent_p.P199P	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	747										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)		TTAATCGGCCGTCTACATTCA	0.527												
LIMK1	3984	broad.mit.edu	37	7	73513362	73513362	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:73513362C>T	uc003uaa.1	+	5	567	c.402C>T	c.(400-402)TGC>TGT	p.C134C	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Silent_p.C100C|LIMK1_uc003uac.1_5'UTR	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	134	LIM zinc-binding 2.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			stomach(2)|ovary(1)	3		Lung NSC(55;0.137)				GCTCTTGCAGCGGGCACTGCT	0.627												
POM121C	100101267	broad.mit.edu	37	7	75050921	75050921	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:75050921T>G	uc003udk.3	-	13	3499	c.2614A>C	c.(2614-2616)AGT>CGT	p.S872R		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	POM121 membrane glycoprotein (rat)-like	1114	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding				0						GTGCTCCCACTCTGTCCTGCT	0.662												
PCLO	27445	broad.mit.edu	37	7	82579421	82579421	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:82579421C>A	uc003uhx.2	-	6	10772	c.10483G>T	c.(10483-10485)GGG>TGG	p.G3495W	PCLO_uc003uhv.2_Missense_Mutation_p.G3495W|PCLO_uc010lec.2_Missense_Mutation_p.G460W	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3426					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CCATATTTCCCTACACGAGCT	0.453												
PCLO	27445	broad.mit.edu	37	7	82581681	82581681	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:82581681G>A	uc003uhx.2	-	5	8877	c.8588C>T	c.(8587-8589)GCA>GTA	p.A2863V	PCLO_uc003uhv.2_Missense_Mutation_p.A2863V|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2794					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CAATGTCACTGCATGTGCTGG	0.478												
PCLO	27445	broad.mit.edu	37	7	82581762	82581762	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:82581762T>C	uc003uhx.2	-	5	8796	c.8507A>G	c.(8506-8508)TAC>TGC	p.Y2836C	PCLO_uc003uhv.2_Missense_Mutation_p.Y2836C|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2767					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TGGTATCCTGTATGGGGGCTC	0.458												
SEMA3E	9723	broad.mit.edu	37	7	82997084	82997084	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:82997084G>T	uc003uhy.1	-	17	2612	c.2146C>A	c.(2146-2148)CTG>ATG	p.L716M		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	716					axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				TAACCGATCAGCTGCAAGAAT	0.468												
DMTF1	9988	broad.mit.edu	37	7	86813856	86813856	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:86813856C>T	uc003uih.2	+	11	1290	c.964C>T	c.(964-966)CGT>TGT	p.R322C	DMTF1_uc003uii.2_Missense_Mutation_p.R56C|DMTF1_uc003uij.2_Missense_Mutation_p.R56C|DMTF1_uc011khb.1_Missense_Mutation_p.R234C|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.R322C|DMTF1_uc003uin.2_Missense_Mutation_p.R56C	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	322	H-T-H motif (By similarity).|Interaction with CCND1, CCND2 and CCND3 (By similarity).|HTH myb-type.|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					AAAGCAATGTCGTTCTAAATG	0.483												
ZNF804B	219578	broad.mit.edu	37	7	88962741	88962741	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:88962741G>T	uc011khi.1	+	4	983	c.445G>T	c.(445-447)GGA>TGA	p.G149*		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	149						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACTCCAGCAAGGAATTTTCCC	0.388										HNSCC(36;0.09)		
ZNF804B	219578	broad.mit.edu	37	7	88965970	88965970	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:88965970C>A	uc011khi.1	+	4	4212	c.3674C>A	c.(3673-3675)TCT>TAT	p.S1225Y		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1225						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCCTTAAGTTCTCATAGCAGT	0.468										HNSCC(36;0.09)		
ZNF804B	219578	broad.mit.edu	37	7	88966013	88966013	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:88966013A>G	uc011khi.1	+	4	4255	c.3717A>G	c.(3715-3717)TCA>TCG	p.S1239S		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1239						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATCCTCTTTCACAGGCACATT	0.468										HNSCC(36;0.09)		
ZNF804B	219578	broad.mit.edu	37	7	88966093	88966093	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:88966093A>G	uc011khi.1	+	4	4335	c.3797A>G	c.(3796-3798)CAT>CGT	p.H1266R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1266						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTAGCAGGTCATCCCCTGCAT	0.478										HNSCC(36;0.09)		
STEAP1	26872	broad.mit.edu	37	7	89790371	89790371	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:89790371G>A	uc003ujx.2	+	3	537	c.337G>A	c.(337-339)GTC>ATC	p.V113I	STEAP1_uc010lem.2_Missense_Mutation_p.V113I	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the	113					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	all_hematologic(106;0.112)					TCCAATCCTGGTCATCAACAA	0.383												
AKAP9	10142	broad.mit.edu	37	7	91641856	91641856	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:91641856C>T	uc003ulg.2	+	9	3657	c.3432C>T	c.(3430-3432)TGC>TGT	p.C1144C	AKAP9_uc003ule.2_Silent_p.C1156C|AKAP9_uc003ulf.2_Silent_p.C1144C|AKAP9_uc003uli.2_Silent_p.C769C	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1156	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGCTCTTTGCAGTCTTAAAG	0.368			T	BRAF	papillary thyroid							
AKAP9	10142	broad.mit.edu	37	7	91668044	91668044	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:91668044A>G	uc003ulg.2	+	17	4875	c.4650A>G	c.(4648-4650)GAA>GAG	p.E1550E	AKAP9_uc003ule.2_Silent_p.E1562E|AKAP9_uc003ulf.2_Silent_p.E1550E|AKAP9_uc003uli.2_Silent_p.E1175E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1562					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTATTTCAGAAGAAATGTTCT	0.299			T	BRAF	papillary thyroid							
ANKIB1	54467	broad.mit.edu	37	7	92027979	92027979	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:92027979A>G	uc003ulw.2	+	20	3362	c.2986A>G	c.(2986-2988)AGT>GGT	p.S996G	ANKIB1_uc010lew.1_Missense_Mutation_p.S265G	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	996							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACAGAAATCAGTGCAGATTC	0.473												
HEPACAM2	253012	broad.mit.edu	37	7	92838028	92838028	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:92838028T>C	uc003umm.2	-	4	900	c.877A>G	c.(877-879)ATT>GTT	p.I293V	HEPACAM2_uc003uml.2_Missense_Mutation_p.I281V|HEPACAM2_uc010lff.2_Missense_Mutation_p.I281V|HEPACAM2_uc011khy.1_Missense_Mutation_p.I316V	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	293	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5						CCATGCTTAATGATATATGTA	0.458												
PPP1R9A	55607	broad.mit.edu	37	7	94740662	94740662	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:94740662G>A	uc003unp.2	+	3	1769	c.1487G>A	c.(1486-1488)CGT>CAT	p.R496H	PPP1R9A_uc010lfj.2_Missense_Mutation_p.R496H|PPP1R9A_uc011kif.1_Missense_Mutation_p.R496H|PPP1R9A_uc003unq.2_Missense_Mutation_p.R496H|PPP1R9A_uc011kig.1_Missense_Mutation_p.R496H	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	496	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTGAAAAACGTGTAGAAAAG	0.383										HNSCC(28;0.073)		
PON3	5446	broad.mit.edu	37	7	94991719	94991719	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:94991719A>G	uc003unt.2	-	8	886	c.861T>C	c.(859-861)CCT>CCC	p.P287P	PON1_uc011kih.1_Intron	NM_000940	NP_000931	Q15166	PON3_HUMAN	paraoxonase 3	287					aromatic compound catabolic process|carboxylic acid catabolic process|response to external stimulus	extracellular space	aryldialkylphosphatase activity|arylesterase activity|metal ion binding|protein homodimerization activity			ovary(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			GTAGCTTCATAGGATTAGGAT	0.463												
TECPR1	25851	broad.mit.edu	37	7	97852330	97852330	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:97852330C>T	uc003upg.2	-	21	3105	c.2900G>A	c.(2899-2901)CGC>CAC	p.R967H		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	967	TECPR 6.					integral to membrane	protein binding			pancreas(1)	1						CACGCCCAGGCGGCACAGCAC	0.657												
TRRAP	8295	broad.mit.edu	37	7	98574269	98574269	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:98574269A>G	uc003upp.2	+	54	8311	c.8102A>G	c.(8101-8103)AAC>AGC	p.N2701S	TRRAP_uc011kis.1_Missense_Mutation_p.N2683S|TRRAP_uc003upr.2_Missense_Mutation_p.N2400S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2701					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)			AAGACACACAACCTCTGGTTC	0.557												
ZNF394	84124	broad.mit.edu	37	7	99092078	99092078	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:99092078T>C	uc003uqs.2	-	3	921	c.760A>G	c.(760-762)AAA>GAA	p.K254E	ZNF394_uc003uqt.2_Missense_Mutation_p.K47E	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	zinc finger protein 394	254					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	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)					TTTTCAAGTTTCAGGGGCAAG	0.473												
ZNF498	221785	broad.mit.edu	37	7	99217354	99217354	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:99217354G>A	uc003url.1	+	4	452	c.125G>A	c.(124-126)CGG>CAG	p.R42Q	ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Missense_Mutation_p.R42Q|ZNF498_uc003uro.1_5'Flank	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	zinc finger and SCAN domain containing 25	42	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GAGACTTTTCGGCTGAGGTTT	0.597												
AZGP1	563	broad.mit.edu	37	7	99569446	99569446	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:99569446C>T	uc003ush.2	-	2	304	c.260G>A	c.(259-261)AGC>AAC	p.S87N		NM_001185	NP_001176	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc	87					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CTGAAGTTGGCTGTCCTGCTT	0.483												
ZSCAN21	7589	broad.mit.edu	37	7	99654775	99654775	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:99654775G>T	uc003uso.2	+	2	290	c.146G>T	c.(145-147)AGG>ATG	p.R49M	ZSCAN21_uc011kje.1_Missense_Mutation_p.R48M|ZSCAN21_uc003usn.1_Missense_Mutation_p.R48M	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	zinc finger protein 38	49	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CAGCGCTTCAGGCAGTTTGGG	0.592												
MCM7	4176	broad.mit.edu	37	7	99696968	99696968	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:99696968C>T	uc003usw.1	-	4	845	c.335G>A	c.(334-336)CGG>CAG	p.R112Q	MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.3_5'Flank|AP4M1_uc003utc.3_5'Flank|AP4M1_uc010lgm.2_5'Flank|AP4M1_uc003utd.2_5'Flank|AP4M1_uc011kjh.1_5'Flank|AP4M1_uc003ute.3_5'Flank|AP4M1_uc003utf.3_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	112					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GTCCCGACTCCGCTGCTCCAT	0.473												
STAG3	10734	broad.mit.edu	37	7	99796125	99796125	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:99796125G>A	uc003utx.1	+	13	1427	c.1272G>A	c.(1270-1272)GCG>GCA	p.A424A	STAG3_uc010lgs.1_Silent_p.A212A|STAG3_uc011kjk.1_Silent_p.A366A|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	424					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)					TGACGGACGCGGATTGTGAGA	0.517												
MOSPD3	64598	broad.mit.edu	37	7	100212539	100212539	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:100212539G>A	uc003uvq.2	+	5	763	c.561G>A	c.(559-561)ACG>ACA	p.T187T	MOSPD3_uc003uvr.2_Silent_p.T187T|MOSPD3_uc003uvs.2_Silent_p.T187T|MOSPD3_uc003uvt.2_Silent_p.T177T	NM_001040097	NP_001035186	O75425	MSPD3_HUMAN	motile sperm domain containing 3 isoform a	187	Helical; (Potential).					integral to membrane	structural molecule activity			ovary(2)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCTTGCTGACGGGGATTGTGT	0.617												
GIGYF1	64599	broad.mit.edu	37	7	100284395	100284395	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:100284395C>T	uc003uwg.1	-	7	1580	c.571G>A	c.(571-573)GCC>ACC	p.A191T		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	191										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTGAGCGGGCGTGCTCCTTC	0.577												
GIGYF1	64599	broad.mit.edu	37	7	100285731	100285731	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:100285731A>G	uc003uwg.1	-	2	1047	c.38T>C	c.(37-39)CTC>CCC	p.L13P		NM_022574	NP_072096	O75420	PERQ1_HUMAN	PERQ amino acid rich, with GYF domain 1	13										large_intestine(1)|central_nervous_system(1)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CAGGGCCCTGAGCCTGGACAC	0.617												
SLC12A9	56996	broad.mit.edu	37	7	100454755	100454755	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:100454755C>G	uc003uwp.2	+	5	856	c.714C>G	c.(712-714)CAC>CAG	p.H238Q	SLC12A9_uc003uwo.1_Missense_Mutation_p.H149Q|SLC12A9_uc003uwq.2_Missense_Mutation_p.H149Q|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'UTR|SLC12A9_uc003uwv.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	238	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTTTGGCCACTTCACCGGCT	0.652												
MUC17	140453	broad.mit.edu	37	7	100683678	100683678	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:100683678T>A	uc003uxp.1	+	3	9034	c.8981T>A	c.(8980-8982)GTC>GAC	p.V2994D	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2994	Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTATGTCTGTCAGCACCATG	0.502												
MUC17	140453	broad.mit.edu	37	7	100686959	100686959	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:100686959G>A	uc003uxp.1	+	3	12315	c.12262G>A	c.(12262-12264)GCT>ACT	p.A4088T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4088	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GAACCCTGAGGCTGTCACCAC	0.542												
AP1S1	1174	broad.mit.edu	37	7	100802359	100802359	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:100802359T>C	uc003uxv.3	+	4	421	c.311T>C	c.(310-312)ATC>ACC	p.I104T		NM_001283	NP_001274	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1	104					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGGACATCATCTTCAACTTT	0.552												
LRWD1	222229	broad.mit.edu	37	7	102108614	102108614	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:102108614G>A	uc003uzn.2	+	6	922	c.784G>A	c.(784-786)GCA>ACA	p.A262T	LRWD1_uc003uzo.2_Missense_Mutation_p.A110T	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	262					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1						CAGCCCTGTGGCAGGCTCCGA	0.687												
LRWD1	222229	broad.mit.edu	37	7	102113048	102113048	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:102113048C>T	uc003uzn.2	+	13	1820	c.1682C>T	c.(1681-1683)GCC>GTC	p.A561V	LRWD1_uc003uzo.2_Missense_Mutation_p.A409V	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	561	WD 4.				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1						TCGCTCAGCGCCTGCCCTGGT	0.706												
DNAJC2	27000	broad.mit.edu	37	7	102962507	102962507	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:102962507C>A	uc003vbo.2	-	10	1206	c.955G>T	c.(955-957)GCT>TCT	p.A319S	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.A319S|DNAJC2_uc003vbp.2_5'UTR	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	319					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1						AACCGAGCAGCTTCTAATTCA	0.318												
RELN	5649	broad.mit.edu	37	7	103137062	103137062	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:103137062C>A	uc003vca.2	-	56	9264	c.9104G>T	c.(9103-9105)GGG>GTG	p.G3035V	RELN_uc010liz.2_Missense_Mutation_p.G3035V	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3035					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)		ACGCTCCACCCCAGAGACCAC	0.483												
RINT1	60561	broad.mit.edu	37	7	105187419	105187419	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:105187419C>A	uc003vda.1	+	5	809	c.578C>A	c.(577-579)TCT>TAT	p.S193Y	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	193					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	p.S193S(1)		ovary(3)|central_nervous_system(1)	4						ACTCTAGTGTCTATGGCAGAA	0.353												
RINT1	60561	broad.mit.edu	37	7	105190859	105190859	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:105190859G>A	uc003vda.1	+	9	1490	c.1259G>A	c.(1258-1260)GGC>GAC	p.G420D	RINT1_uc010ljj.1_5'UTR	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	420	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4						GGCTATCCTGGCACTTTTGCT	0.418												
PIK3CG	5294	broad.mit.edu	37	7	106508571	106508571	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:106508571G>A	uc003vdv.3	+	2	650	c.565G>A	c.(565-567)GCC>ACC	p.A189T	PIK3CG_uc003vdu.2_Missense_Mutation_p.A189T|PIK3CG_uc003vdw.2_Missense_Mutation_p.A189T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	189					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						GGCGGAGGTGGCCAGCCGCGA	0.622												
LAMB1	3912	broad.mit.edu	37	7	107596053	107596053	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:107596053C>T	uc003vew.2	-	21	3048	c.2713G>A	c.(2713-2715)GAC>AAC	p.D905N	LAMB1_uc003vev.2_Missense_Mutation_p.D929N	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	905	Laminin EGF-like 8.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGATGGGGTCGCCATAGTAA	0.542												
DOCK4	9732	broad.mit.edu	37	7	111372307	111372307	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:111372307G>A	uc003vfx.2	-	51	5698	c.5429C>T	c.(5428-5430)TCG>TTG	p.S1810L	DOCK4_uc011kml.1_Missense_Mutation_p.S691L|DOCK4_uc011kmm.1_Missense_Mutation_p.S679L|DOCK4_uc003vfw.2_Missense_Mutation_p.S1222L|DOCK4_uc003vfy.2_Missense_Mutation_p.S1855L|DOCK4_uc003vfv.2_Missense_Mutation_p.S123L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1810	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				CCCGGCAGGCGAGGGGGATAC	0.463												
CTTNBP2	83992	broad.mit.edu	37	7	117432590	117432590	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:117432590G>C	uc003vjf.2	-	4	752	c.660C>G	c.(658-660)AGC>AGG	p.S220R		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	220	Potential.									ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCATTTCTGTGCTTCTTCGTT	0.483												
CTTNBP2	83992	broad.mit.edu	37	7	117450890	117450890	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:117450890T>C	uc003vjf.2	-	3	435	c.343A>G	c.(343-345)ATG>GTG	p.M115V		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	115										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGTGGGCCATGACTGCTTCA	0.507												
ANKRD7	56311	broad.mit.edu	37	7	117876853	117876853	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:117876853T>C	uc003vji.2	+	5	758	c.585T>C	c.(583-585)CTT>CTC	p.L195L		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	195	ANK 5.				male gonad development						0						GAACAGCCCTTATTCTTGCTG	0.378												
KCND2	3751	broad.mit.edu	37	7	119915718	119915718	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:119915718C>T	uc003vjj.1	+	1	1997	c.1032C>T	c.(1030-1032)TAC>TAT	p.Y344Y		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	344	Helical; Name=Segment S5; (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					TTATGTTCTACGCAGAGAAGG	0.507												
PTPRZ1	5803	broad.mit.edu	37	7	121678929	121678929	+	Missense_Mutation	SNP	G	G	A	rs150233853	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:121678929G>A	uc003vjy.2	+	19	5883	c.5488G>A	c.(5488-5490)GTG>ATG	p.V1830M	PTPRZ1_uc003vjz.2_Missense_Mutation_p.V963M|PTPRZ1_uc011knt.1_Missense_Mutation_p.V420M	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1830	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						AACAAACCTCGTGGAGAAAGG	0.373												
PTPRZ1	5803	broad.mit.edu	37	7	121684548	121684548	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:121684548C>T	uc003vjy.2	+	23	6405	c.6010C>T	c.(6010-6012)CAT>TAT	p.H2004Y	PTPRZ1_uc003vjz.2_Missense_Mutation_p.H1137Y|PTPRZ1_uc011knt.1_Missense_Mutation_p.H594Y	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	2004	Cytoplasmic (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						GCTGGACAGTCATATTCATGC	0.428												
CADPS2	93664	broad.mit.edu	37	7	122194638	122194638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:122194638G>A	uc010lkp.2	-	8	1604	c.1441C>T	c.(1441-1443)CGA>TGA	p.R481*	CADPS2_uc003vkg.3_Nonsense_Mutation_p.R181*|CADPS2_uc010lkq.2_Nonsense_Mutation_p.R481*	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	481					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						TTATCCATTCGCACTGCCAGT	0.338												
SND1	27044	broad.mit.edu	37	7	127361447	127361447	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:127361447A>G	uc003vmi.2	+	10	1371	c.1145A>G	c.(1144-1146)AAC>AGC	p.N382S	SND1_uc010lle.2_Missense_Mutation_p.N35S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	382	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						GAGGGGGAGAACACCCAGGTG	0.458												
LRRC4	64101	broad.mit.edu	37	7	127670623	127670623	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:127670623A>G	uc003vmk.2	-	2	208	c.71T>C	c.(70-72)CTC>CCC	p.L24P	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	24						cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		TTGCGCCGTGAGGTAGACGAA	0.597												
CCDC136	64753	broad.mit.edu	37	7	128447569	128447569	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:128447569T>C	uc003vnv.1	+	10	1942	c.1575T>C	c.(1573-1575)ATT>ATC	p.I525I	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Silent_p.I472I|CCDC136_uc003vnx.1_Silent_p.I341I|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_Silent_p.I135I	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	525						integral to membrane	protein binding			ovary(2)	2						CCCACCCCATTCCGGAGGACA	0.547												
AHCYL2	23382	broad.mit.edu	37	7	129040190	129040190	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:129040190A>G	uc011kov.1	+	6	937	c.883A>G	c.(883-885)AGA>GGA	p.R295G	AHCYL2_uc003vot.2_Missense_Mutation_p.R294G|AHCYL2_uc003vov.2_Missense_Mutation_p.R192G|AHCYL2_uc011kow.1_Missense_Mutation_p.R193G|AHCYL2_uc011kox.1_Missense_Mutation_p.R192G	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	295					one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						GTGTATCGATAGATGTGTGAA	0.463												
CPA2	1358	broad.mit.edu	37	7	129919461	129919461	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:129919461T>C	uc003vpq.2	+	9	965	c.946T>C	c.(946-948)TAT>CAT	p.Y316H		NM_001869	NP_001860	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic) precursor	316					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					GATGTTCCCCTATGGGTACAA	0.418												
PLXNA4	91584	broad.mit.edu	37	7	131825492	131825492	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:131825492G>A	uc003vra.3	-	30	5533	c.5304C>T	c.(5302-5304)GAC>GAT	p.D1768D	PLXNA4_uc003vqz.3_Silent_p.D53D	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1768	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						AGAGGCAGGCGTCTGTGATGC	0.557												
PLXNA4	91584	broad.mit.edu	37	7	131831420	131831420	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:131831420C>T	uc003vra.3	-	28	5133	c.4904G>A	c.(4903-4905)CGC>CAC	p.R1635H	PLXNA4_uc003vqz.3_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1635	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TGTCCGTGAGCGGAGGCTGTC	0.587												
TMEM140	55281	broad.mit.edu	37	7	134849303	134849303	+	Missense_Mutation	SNP	G	G	A	rs144887157		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:134849303G>A	uc003vsi.2	+	2	391	c.110G>A	c.(109-111)GGC>GAC	p.G37D	C7orf49_uc003vsh.2_Intron	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	transmembrane protein 140	37	Extracellular (Potential).					integral to membrane				large_intestine(1)	1						TGGGAGGCTGGCAACCTCACT	0.552												
CNOT4	4850	broad.mit.edu	37	7	135047842	135047842	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:135047842C>A	uc011kpy.1	-	11	2029	c.1937G>T	c.(1936-1938)GGC>GTC	p.G646V	CNOT4_uc003vss.2_Missense_Mutation_p.G572V|CNOT4_uc011kpz.1_Missense_Mutation_p.G643V|CNOT4_uc003vst.2_Missense_Mutation_p.G575V	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						AGCGCTGGGGCCGTCCATCTC	0.547												
PTN	5764	broad.mit.edu	37	7	136936035	136936035	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:136936035G>A	uc003vtq.2	-	4	756	c.393C>T	c.(391-393)TGC>TGT	p.C131C	PTN_uc010lmx.2_Silent_p.C131C|PTN_uc003vtr.1_Silent_p.C131C	NM_002825	NP_002816	P21246	PTN_HUMAN	pleiotrophin	131					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			upper_aerodigestive_tract(1)|pancreas(1)	2						CAGTCTTCTGGCATTCGGCAT	0.502												
ATP6V0A4	50617	broad.mit.edu	37	7	138417780	138417780	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:138417780G>T	uc003vuf.2	-	16	1988	c.1750C>A	c.(1750-1752)CTG>ATG	p.L584M	ATP6V0A4_uc003vug.2_Missense_Mutation_p.L584M|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.L584M	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	584	Helical; (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						AACAGACACAGGATAAAAATC	0.423												
UBN2	254048	broad.mit.edu	37	7	138946364	138946364	+	Silent	SNP	G	G	A	rs150369714	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:138946364G>A	uc011kqr.1	+	6	1272	c.1272G>A	c.(1270-1272)TCG>TCA	p.S424S	UBN2_uc003vuv.2_Silent_p.S147S	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2	424										ovary(1)|skin(1)	2						TATCTGAGTCGGGGGGTGAAA	0.488												
KLRG2	346689	broad.mit.edu	37	7	139168372	139168372	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:139168372T>C	uc003vvb.2	-	1	86	c.17A>G	c.(16-18)GAG>GGG	p.E6G	KLRG2_uc010lnc.2_Missense_Mutation_p.E6G	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	6						integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					GGGCGCAGCCTCCCAAGACTC	0.721												
JHDM1D	80853	broad.mit.edu	37	7	139798732	139798732	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:139798732T>C	uc003vvm.2	-	14	1869	c.1865A>G	c.(1864-1866)GAG>GGG	p.E622G	JHDM1D_uc010lng.2_RNA	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	622					midbrain development|transcription, DNA-dependent	nucleolus	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(1)	1	Melanoma(164;0.0142)					TCCTGAACTCTCTTCTATCTT	0.338												
JHDM1D	80853	broad.mit.edu	37	7	139829334	139829334	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:139829334G>T	uc003vvm.2	-	4	522	c.518C>A	c.(517-519)CCT>CAT	p.P173H		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	173					midbrain development|transcription, DNA-dependent	nucleolus	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(1)	1	Melanoma(164;0.0142)					TGTAGGTGAAGGGAGCCTGAG	0.393												
JHDM1D	80853	broad.mit.edu	37	7	139829343	139829343	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:139829343A>C	uc003vvm.2	-	4	513	c.509T>G	c.(508-510)CTC>CGC	p.L170R		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	170					midbrain development|transcription, DNA-dependent	nucleolus	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(1)	1	Melanoma(164;0.0142)					AGGGAGCCTGAGTCCTAGATC	0.378												
DENND2A	27147	broad.mit.edu	37	7	140273781	140273781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:140273781G>A	uc010lnj.2	-	4	1418	c.1273C>T	c.(1273-1275)CGA>TGA	p.R425*	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Nonsense_Mutation_p.R425*|DENND2A_uc003vvw.2_Nonsense_Mutation_p.R425*|DENND2A_uc003vvx.2_Nonsense_Mutation_p.R425*	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	425										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					GAATTTTGTCGGAAAAAAGCA	0.493												
MGAM	8972	broad.mit.edu	37	7	141736642	141736642	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:141736642T>C	uc003vwy.2	+	18	2150	c.2096T>C	c.(2095-2097)TTT>TCT	p.F699S		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	699	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTGCCTCCTTTGGAGCTGAC	0.507												
EPHB6	2051	broad.mit.edu	37	7	142561975	142561975	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:142561975C>T	uc011kst.1	+	7	1204	c.417C>T	c.(415-417)GAC>GAT	p.D139D	EPHB6_uc011ksu.1_Silent_p.D139D|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	139	Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.K139N(1)		lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					AGGAGCCCGACAGCCCTGACA	0.542												
EPHB6	2051	broad.mit.edu	37	7	142564248	142564248	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:142564248T>C	uc011kst.1	+	10	2259	c.1472T>C	c.(1471-1473)GTC>GCC	p.V491A	EPHB6_uc011ksu.1_Missense_Mutation_p.V491A|EPHB6_uc003wbs.2_Missense_Mutation_p.V199A|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Missense_Mutation_p.V199A|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	491	Fibronectin type-III 2.|Extracellular (Potential).					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					CCCTCTGCTGTCCCTGTGGTG	0.607												
KEL	3792	broad.mit.edu	37	7	142658034	142658034	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:142658034G>T	uc003wcb.2	-	4	591	c.381C>A	c.(379-381)AAC>AAA	p.N127K		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	127	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)					TCCGAAGTCGGTTTTTGTTCT	0.502												
OR2A2	442361	broad.mit.edu	37	7	143807556	143807556	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:143807556C>T	uc011ktz.1	+	1	881	c.881C>T	c.(880-882)GCT>GTT	p.A294V		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	294	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					CTGAGGAATGCTCAGTTGAAG	0.498												
ZNF398	57541	broad.mit.edu	37	7	148876528	148876528	+	Missense_Mutation	SNP	C	C	T	rs112460455		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:148876528C>T	uc003wfl.2	+	6	1839	c.1564C>T	c.(1564-1566)CGC>TGC	p.R522C	ZNF398_uc011kul.1_Missense_Mutation_p.R351C|ZNF398_uc011kum.1_Missense_Mutation_p.R527C	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	522	C2H2-type 7.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GAGCTTCATGCGCAAGGAGCA	0.597												
ZNF746	155061	broad.mit.edu	37	7	149191461	149191461	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:149191461G>A	uc003wfw.2	-	2	429	c.158C>T	c.(157-159)GCC>GTC	p.A53V	ZNF746_uc010lpi.2_Missense_Mutation_p.A53V	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	53	Potential.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAACTCCACGGCTGTCTTCTC	0.622												
GIMAP1	170575	broad.mit.edu	37	7	150416146	150416146	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:150416146G>T	uc003whq.2	+	2	98	c.11G>T	c.(10-12)AGG>ATG	p.R4M	GIMAP1_uc003whp.2_Missense_Mutation_p.R12M	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	4	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGGGAGGAAGGAAGATGGCG	0.383												
GIMAP1	170575	broad.mit.edu	37	7	150417152	150417152	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:150417152T>C	uc003whq.2	+	3	147	c.60T>C	c.(58-60)GCT>GCC	p.A20A	GIMAP1_uc003whp.2_Silent_p.A28A	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	20	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGAACGCTCAGTCCCGGC	0.522												
ABCB8	11194	broad.mit.edu	37	7	150730732	150730732	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:150730732G>A	uc003wil.3	+	3	280	c.187G>A	c.(187-189)GTG>ATG	p.V63M	ABCB8_uc003wii.2_Missense_Mutation_p.V83M|ABCB8_uc003wij.3_Missense_Mutation_p.V46M|ABCB8_uc010lpw.1_Intron|ABCB8_uc010lpx.2_Missense_Mutation_p.V46M|ABCB8_uc011kvd.1_Intron|ABCB8_uc003wim.3_Intron|ABCB8_uc003wik.3_Missense_Mutation_p.V46M	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	63						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCGGGCCGTGGCCCACCT	0.677												
ABCB8	11194	broad.mit.edu	37	7	150742338	150742338	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:150742338G>A	uc003wil.3	+	17	2203	c.2110G>A	c.(2110-2112)GCC>ACC	p.A704T	ABCB8_uc010lpx.2_Missense_Mutation_p.A662T|ABCB8_uc011kvd.1_Missense_Mutation_p.A599T|ABCB8_uc003wim.3_Missense_Mutation_p.A482T|ABCB8_uc003wik.3_Missense_Mutation_p.A687T	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	704	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGCTATACGCCGAGCTCAT	0.632												
CDK5	1020	broad.mit.edu	37	7	150754240	150754240	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:150754240G>A	uc003wir.1	-	2	106	c.45C>T	c.(43-45)TAC>TAT	p.Y15Y	CDK5_uc003wis.1_Silent_p.Y15Y|SLC4A2_uc003wit.3_5'Flank	NM_004935	NP_004926	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5 isoform 1	15	ATP (By similarity).|Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			lung(1)|central_nervous_system(1)	2		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		ACACAGTTCCGTAGGTGCCTA	0.577												
CHPF2	54480	broad.mit.edu	37	7	150935685	150935685	+	Missense_Mutation	SNP	G	G	A	rs138308089		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:150935685G>A	uc003wjr.1	+	4	3750	c.2237G>A	c.(2236-2238)CGC>CAC	p.R746H	CHPF2_uc003wjq.1_Missense_Mutation_p.R738H	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	746	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						CACCGCTGCCGCCTCAGCAAC	0.647												
NUB1	51667	broad.mit.edu	37	7	151053255	151053255	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:151053255G>C	uc003wjx.2	+	7	717	c.712G>C	c.(712-714)GAC>CAC	p.D238H	NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Missense_Mutation_p.D214H|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA|NUB1_uc011kvj.1_Intron|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	214					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ACCGTACTTAGACATAGCTAA	0.408												
MLL3	58508	broad.mit.edu	37	7	151891169	151891169	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:151891169T>A	uc003wla.2	-	31	4804	c.4585A>T	c.(4585-4587)AGT>TGT	p.S1529C	MLL3_uc003wkz.2_Missense_Mutation_p.S590C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1529					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTCGCAGGACTAAGTACAGCT	0.413			N		medulloblastoma							
SHH	6469	broad.mit.edu	37	7	155595711	155595711	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:155595711C>T	uc003wmk.1	-	3	1423	c.1272G>A	c.(1270-1272)CCG>CCA	p.P424P	SHH_uc003wmh.1_Intron|SHH_uc003wmi.1_Intron|SHH_uc003wmj.1_Silent_p.P337P	NM_000193	NP_000184	Q15465	SHH_HUMAN	sonic hedgehog preproprotein	424			P -> A (in HPE3; familial).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|lung(1)	4	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCCGCACCCGGAGCGTCGG	0.552												
UBE3C	9690	broad.mit.edu	37	7	157046698	157046698	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:157046698C>T	uc010lqs.2	+	20	3057	c.2745C>T	c.(2743-2745)AAC>AAT	p.N915N	UBE3C_uc003wni.3_Silent_p.N278N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	915	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCAGCGCCAACCGGATTGCGT	0.512												
CSMD1	64478	broad.mit.edu	37	8	3046483	3046483	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:3046483C>T	uc011kwk.1	-	35	5842	c.5452G>A	c.(5452-5454)GGC>AGC	p.G1818S	CSMD1_uc011kwj.1_Missense_Mutation_p.G1210S|CSMD1_uc003wqe.2_Missense_Mutation_p.G974S|CSMD1_uc010lrg.2_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1818	Extracellular (Potential).|CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCAGGGTAGCCGGGGGACAGG	0.468												
AGPAT5	55326	broad.mit.edu	37	8	6588288	6588288	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:6588288C>T	uc003wqo.2	+	3	658	c.346C>T	c.(346-348)CGC>TGC	p.R116C	AGPAT5_uc011kwm.1_Intron	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	116					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity				0			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		AGGACATGTGCGCTACGTGCT	0.463												
DEFB1	1672	broad.mit.edu	37	8	6735366	6735366	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:6735366T>C	uc003wqs.2	-	1	164	c.14A>G	c.(13-15)TAC>TGC	p.Y5C		NM_005218	NP_005209	P60022	DEFB1_HUMAN	defensin, beta 1 preproprotein	5					chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|innate immune response	extracellular region					0			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		CAGCAGAAGGTAGGAAGTTCT	0.557												
MSRA	4482	broad.mit.edu	37	8	10285672	10285672	+	Silent	SNP	C	C	T	rs139382033		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:10285672C>T	uc003wsx.2	+	6	755	c.558C>T	c.(556-558)CAC>CAT	p.H186H	MSRA_uc011kwx.1_Silent_p.H146H|MSRA_uc003wsz.2_Silent_p.H143H|MSRA_uc003wsy.2_Silent_p.H120H	NM_012331	NP_036463	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A isoform a	186					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity				0		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	TTTCAGAGCACGGCTTCGGCC	0.592												
RP1L1	94137	broad.mit.edu	37	8	10466703	10466703	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:10466703G>A	uc003wtc.2	-	4	5134	c.4905C>T	c.(4903-4905)GAC>GAT	p.D1635D		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1635					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GGGCTGGCTCGTCCTCCAGGG	0.692												
FDFT1	2222	broad.mit.edu	37	8	11667360	11667360	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:11667360G>A	uc003wui.2	+	3	533	c.381_splice	c.e3+1	p.T127_splice	FDFT1_uc003wuh.2_Splice_Site_p.T63_splice|FDFT1_uc010lsa.1_Splice_Site_p.T42_splice|FDFT1_uc011kxe.1_Splice_Site_p.T63_splice|FDFT1_uc011kxf.1_Splice_Site_p.T127_splice|FDFT1_uc011kxg.1_Intron|FDFT1_uc003wuj.2_Splice_Site_p.T120_splice|FDFT1_uc010lsb.2_Splice_Site_p.T63_splice|FDFT1_uc011kxh.1_Splice_Site_p.T63_splice|FDFT1_uc011kxi.1_Splice_Site|FDFT1_uc011kxj.1_Splice_Site_p.T63_splice|FDFT1_uc003wuk.2_Splice_Site_p.T186_splice|FDFT1_uc011kxk.1_Splice_Site_p.T42_splice	NM_004462	NP_004453	P37268	FDFT_HUMAN	squalene synthase						cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity				0	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CTTCCCAACGGTGAGTGGGGT	0.498												
FDFT1	2222	broad.mit.edu	37	8	11689081	11689081	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:11689081G>T	uc003wui.2	+	7	1086	c.934G>T	c.(934-936)GGG>TGG	p.G312W	FDFT1_uc003wuh.2_Missense_Mutation_p.G248W|FDFT1_uc010lsa.1_Missense_Mutation_p.G227W|FDFT1_uc011kxe.1_Missense_Mutation_p.G248W|FDFT1_uc011kxf.1_Missense_Mutation_p.G269W|FDFT1_uc011kxg.1_Missense_Mutation_p.G145W|FDFT1_uc003wuj.2_Missense_Mutation_p.G305W|FDFT1_uc010lsb.2_Missense_Mutation_p.G248W|FDFT1_uc011kxh.1_Missense_Mutation_p.G248W|FDFT1_uc011kxi.1_RNA|FDFT1_uc011kxj.1_Missense_Mutation_p.G248W|FDFT1_uc003wuk.2_Missense_Mutation_p.G371W|FDFT1_uc011kxk.1_Missense_Mutation_p.G227W	NM_004462	NP_004453	P37268	FDFT_HUMAN	squalene synthase	312					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity				0	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GGTGTTCAAAGGGGCAGTGAA	0.453												
PDGFRL	5157	broad.mit.edu	37	8	17486274	17486274	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:17486274C>T	uc003wxr.2	+	4	845	c.784C>T	c.(784-786)CTG>TTG	p.L262L		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	262						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity				0				Colorectal(111;0.0752)		CAAGTACCAGCTGCTCTATGT	0.572												
PSD3	23362	broad.mit.edu	37	8	18430057	18430057	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:18430057G>C	uc003wza.2	-	14	2868	c.2765C>G	c.(2764-2766)ACT>AGT	p.T922S	PSD3_uc003wyx.3_Missense_Mutation_p.T251S|PSD3_uc003wyy.2_Missense_Mutation_p.T388S|PSD3_uc003wyz.2_Missense_Mutation_p.T223S	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	923	Potential.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTTTGTTGTAGTGGCAGGCAG	0.393												
PSD3	23362	broad.mit.edu	37	8	18729717	18729717	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:18729717C>T	uc003wza.2	-	3	760	c.657G>A	c.(655-657)GCG>GCA	p.A219A		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	219					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAGTTAACAGCGCGGTGAGAT	0.473												
HR	55806	broad.mit.edu	37	8	21978604	21978604	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:21978604C>T	uc003xas.2	-	10	3006	c.2341G>A	c.(2341-2343)GCC>ACC	p.A781T	HR_uc003xat.2_Missense_Mutation_p.A781T	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	781							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTGACGGGGGCGAAGGCCATG	0.672												
KIAA1967	57805	broad.mit.edu	37	8	22476440	22476440	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:22476440C>T	uc003xch.2	+	19	2570	c.2433C>T	c.(2431-2433)AAC>AAT	p.N811N	KIAA1967_uc003xci.2_Silent_p.N811N|KIAA1967_uc003xcj.1_Silent_p.N480N	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	811					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCCTGATTAACGTGGGGAGCC	0.622												
TNFRSF10D	8793	broad.mit.edu	37	8	22995437	22995437	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:22995437G>A	uc003xcz.1	-	9	1199	c.1107C>T	c.(1105-1107)TCC>TCT	p.S369S		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily,	369	Cytoplasmic (Potential).				anti-apoptosis|apoptosis	integral to 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)		AGAGCTTTTCGGAGCCCACCA	0.478												
NEFM	4741	broad.mit.edu	37	8	24771352	24771352	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:24771352C>T	uc003xed.3	+	1	79	c.46C>T	c.(46-48)CGG>TGG	p.R16W	NEFM_uc011lac.1_Missense_Mutation_p.R16W|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	16	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		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)		CGCCTACCGGCGGGTAACCGA	0.701												
NEFM	4741	broad.mit.edu	37	8	24772112	24772112	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:24772112C>T	uc003xed.3	+	1	839	c.806C>T	c.(805-807)GCG>GTG	p.A269V	NEFM_uc011lac.1_Missense_Mutation_p.A269V|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	269	Rod.|Coil 2A.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		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)		ATCTCGACGGCGCTGAAGGAA	0.592												
ADRA1A	148	broad.mit.edu	37	8	26627968	26627968	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:26627968C>T	uc003xfh.1	-	2	1535	c.1099G>A	c.(1099-1101)GTG>ATG	p.V367M	ADRA1A_uc003xfc.1_Missense_Mutation_p.V367M|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V367M|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V367M	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	367	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGCCCTTCCACGGCCTGGCTG	0.527												
CLU	1191	broad.mit.edu	37	8	27456034	27456034	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:27456034G>T	uc003xfw.1	-	7	1341	c.1283C>A	c.(1282-1284)CCT>CAT	p.P428H	CLU_uc010lux.1_Missense_Mutation_p.P293H|CLU_uc003xfx.1_Missense_Mutation_p.P428H|CLU_uc003xfy.1_Missense_Mutation_p.P439H|CLU_uc003xfz.1_Missense_Mutation_p.P480H	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	428					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CATAAATTTAGGGTTCTTCCT	0.572												
CLU	1191	broad.mit.edu	37	8	27456151	27456151	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:27456151A>G	uc003xfw.1	-	7	1224	c.1166T>C	c.(1165-1167)GTG>GCG	p.V389A	CLU_uc010lux.1_Missense_Mutation_p.V254A|CLU_uc003xfx.1_Missense_Mutation_p.V389A|CLU_uc003xfy.1_Missense_Mutation_p.V400A|CLU_uc003xfz.1_Missense_Mutation_p.V441A	NM_203339	NP_976084	P10909	CLUS_HUMAN	clusterin isoform 2	389					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			ovary(2)	2		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GTGGGAAGCCACCTAAATGGA	0.507												
CCDC25	55246	broad.mit.edu	37	8	27606032	27606032	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:27606032C>A	uc003xgc.2	-	6	441	c.328G>T	c.(328-330)GGC>TGC	p.G110C	CCDC25_uc003xgd.2_Missense_Mutation_p.G42C|CCDC25_uc011lan.1_Intron|CCDC25_uc011lao.1_Intron|CCDC25_uc003xge.2_Intron|CCDC25_uc003xgf.1_RNA	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	110											0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CTGTGAAAGCCTATCTGCCCC	0.473												
ZNF395	55893	broad.mit.edu	37	8	28217189	28217189	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:28217189A>G	uc003xgq.2	-	3	481	c.393T>C	c.(391-393)TGT>TGC	p.C131C	ZNF395_uc003xgt.2_Silent_p.C131C|ZNF395_uc003xgr.2_Silent_p.C131C|ZNF395_uc003xgs.2_Silent_p.C131C	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	131					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GTGCCTGGGGACAGGGGCCCT	0.652												
FBXO16	157574	broad.mit.edu	37	8	28340947	28340947	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:28340947G>T	uc003xgu.2	-	2	115	c.17C>A	c.(16-18)CCT>CAT	p.P6H	ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.P5H|FBXO16_uc003xgw.2_Missense_Mutation_p.P5H	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	F-box only protein 16	6										ovary(1)	1		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GTTTTTTGGAGGTGCAAATGC	0.398												
INTS9	55756	broad.mit.edu	37	8	28654143	28654143	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:28654143G>A	uc003xha.2	-	9	1073	c.774C>T	c.(772-774)AGC>AGT	p.S258S	INTS9_uc011lav.1_Silent_p.S234S|INTS9_uc011law.1_Silent_p.S237S|INTS9_uc011lax.1_Silent_p.S151S|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Silent_p.S258S	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	258					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CAAGAACATCGCTGTTTTTGA	0.438												
DUSP4	1846	broad.mit.edu	37	8	29207699	29207699	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:29207699T>C	uc003xhm.2	-	1	487	c.97A>G	c.(97-99)AGC>GGC	p.S33G	DUSP4_uc003xhl.2_5'Flank	NM_001394	NP_001385	Q13115	DUS4_HUMAN	dual specificity phosphatase 4 isoform 1	33					endoderm formation|inactivation of MAPK activity|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|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	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GTGCCGTGGCTGCCGCTGCCG	0.672												
TEX15	56154	broad.mit.edu	37	8	30699727	30699727	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:30699727C>T	uc003xil.2	-	1	6807	c.6807G>A	c.(6805-6807)AAG>AAA	p.K2269K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2269										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTCTTTTCTCTTCAGCTGTA	0.313												
C8orf41	80185	broad.mit.edu	37	8	33369577	33369577	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:33369577G>A	uc003xjl.3	-	1	1080	c.555C>T	c.(553-555)TGC>TGT	p.C185C	C8orf41_uc003xjk.3_Silent_p.C185C|C8orf41_uc010lvv.2_Silent_p.C185C|C8orf41_uc003xjm.3_Silent_p.C185C|C8orf41_uc003xjn.1_Silent_p.C185C	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	185							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CCACAGAACCGCATTCAGTAA	0.483												
GPR124	25960	broad.mit.edu	37	8	37697756	37697756	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:37697756G>A	uc003xkj.2	+	17	2992	c.2629G>A	c.(2629-2631)GCT>ACT	p.A877T	GPR124_uc010lvy.2_Missense_Mutation_p.A660T	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	877	Cytoplasmic (Potential).				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGGGGACCCCGCTCTGCCTAC	0.597												
PPAPDC1B	84513	broad.mit.edu	37	8	38126504	38126504	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:38126504T>C	uc003xlf.3	-	2	100	c.79A>G	c.(79-81)ACG>GCG	p.T27A	PPAPDC1B_uc003xle.3_5'UTR|PPAPDC1B_uc003xlg.3_Missense_Mutation_p.T27A|PPAPDC1B_uc010lwd.2_Missense_Mutation_p.T27A	NM_001102559	NP_001096029	Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain	27					phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity				0	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			AGCAGCTCCGTCACCCTAGAG	0.677												
FGFR1	2260	broad.mit.edu	37	8	38279325	38279325	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:38279325G>A	uc003xlp.2	-	8	2013	c.1071C>T	c.(1069-1071)ACC>ACT	p.T357T	FGFR1_uc011lbo.1_Silent_p.T355T|FGFR1_uc011lbp.1_Silent_p.T268T|FGFR1_uc011lbq.1_Silent_p.T266T|FGFR1_uc010lwk.2_Silent_p.T349T|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Silent_p.T197T|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Silent_p.T388T|FGFR1_uc011lbv.1_Silent_p.T355T|FGFR1_uc011lbw.1_Silent_p.T268T|FGFR1_uc011lbx.1_Silent_p.T268T	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	357	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CTTCCAGAACGGTCAACCATG	0.557		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome					
ADAM2	2515	broad.mit.edu	37	8	39678684	39678684	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:39678684A>G	uc003xnj.2	-	6	425	c.350T>C	c.(349-351)GTA>GCA	p.V117A	ADAM2_uc003xnk.2_Missense_Mutation_p.V117A|ADAM2_uc011lck.1_Missense_Mutation_p.V117A|ADAM2_uc003xnl.2_Missense_Mutation_p.V117A	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	117					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AAACTGTAGTACGCCCCTAAA	0.318												
MYST3	7994	broad.mit.edu	37	8	41790285	41790285	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:41790285G>A	uc010lxb.2	-	18	5997	c.5453C>T	c.(5452-5454)TCC>TTC	p.S1818F	MYST3_uc010lxc.2_Missense_Mutation_p.S1818F|MYST3_uc003xon.3_Missense_Mutation_p.S1818F	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1818					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CATGGTAGTGGATGCCAAGTT	0.537												
MYST3	7994	broad.mit.edu	37	8	41790549	41790549	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:41790549C>A	uc010lxb.2	-	18	5733	c.5189G>T	c.(5188-5190)AGT>ATT	p.S1730I	MYST3_uc010lxc.2_Missense_Mutation_p.S1730I|MYST3_uc003xon.3_Missense_Mutation_p.S1730I	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1730					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CTCATAGATACTTATGTTCCC	0.448												
MYST3	7994	broad.mit.edu	37	8	41800402	41800402	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:41800402G>A	uc010lxb.2	-	15	2889	c.2345C>T	c.(2344-2346)TCC>TTC	p.S782F	MYST3_uc010lxc.2_Missense_Mutation_p.S782F|MYST3_uc003xon.3_Missense_Mutation_p.S782F|MYST3_uc010lxd.2_Missense_Mutation_p.S782F	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	782	Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CACAGAGTTGGACACTATGAC	0.483												
HGSNAT	138050	broad.mit.edu	37	8	43013831	43013831	+	Silent	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:43013831C>A	uc003xpx.3	+	3	396	c.348C>A	c.(346-348)ACC>ACA	p.T116T		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	144	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)			TGAACGACACCTTGGAAGAGA	0.448												
PRKDC	5591	broad.mit.edu	37	8	48697726	48697726	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:48697726G>T	uc003xqi.2	-	78	11112	c.11055C>A	c.(11053-11055)CCC>CCA	p.P3685P	PRKDC_uc003xqj.2_Silent_p.P3685P|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3685					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)				CGCTCATCCAGGGTGAACATT	0.458								NHEJ				
PRKDC	5591	broad.mit.edu	37	8	48746911	48746911	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:48746911C>T	uc003xqi.2	-	60	8055	c.7998G>A	c.(7996-7998)CCG>CCA	p.P2666P	PRKDC_uc003xqj.2_Silent_p.P2666P|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2666	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGTCGACCAGCGGGTCAGTGC	0.547								NHEJ				
PCMTD1	115294	broad.mit.edu	37	8	52744118	52744118	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:52744118T>C	uc003xqx.3	-	5	933	c.592A>G	c.(592-594)ATT>GTT	p.I198V	PCMTD1_uc011ldm.1_Missense_Mutation_p.I68V|PCMTD1_uc003xqw.3_Missense_Mutation_p.I198V|PCMTD1_uc011ldn.1_Missense_Mutation_p.I10V|PCMTD1_uc010lya.2_Missense_Mutation_p.I122V	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	198						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)				GTTCGCATAATCTGTGTTAAC	0.353												
RP1	6101	broad.mit.edu	37	8	55542253	55542253	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:55542253T>A	uc003xsd.1	+	4	5959	c.5811T>A	c.(5809-5811)TAT>TAA	p.Y1937*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1937					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATTTGCATATCGCAAAGAAT	0.358												
TRIM55	84675	broad.mit.edu	37	8	67064625	67064625	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:67064625A>T	uc003xvv.2	+	8	1225	c.999A>T	c.(997-999)GAA>GAT	p.E333D	TRIM55_uc003xvu.2_Missense_Mutation_p.E333D|TRIM55_uc003xvw.2_Missense_Mutation_p.E333D|TRIM55_uc003xvx.2_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	333						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			atgaagatgaagaagaagaag	0.199												
CSPP1	79848	broad.mit.edu	37	8	68007801	68007801	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:68007801G>A	uc003xxi.2	+	8	920	c.889G>A	c.(889-891)GCT>ACT	p.A297T	CSPP1_uc003xxg.1_Missense_Mutation_p.A289T|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.A262T|CSPP1_uc003xxk.2_5'UTR	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	297						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGCAAGCAAGGCTGGCATTCC	0.353												
ARFGEF1	10565	broad.mit.edu	37	8	68163614	68163614	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:68163614C>T	uc003xxo.1	-	19	3160	c.2770G>A	c.(2770-2772)GCA>ACA	p.A924T	ARFGEF1_uc003xxl.1_Missense_Mutation_p.A378T	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	924					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCCATGAGTGCTTTAGCTGTC	0.408												
PREX2	80243	broad.mit.edu	37	8	68956788	68956788	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:68956788G>A	uc003xxv.1	+	8	933	c.906G>A	c.(904-906)ACG>ACA	p.T302T	PREX2_uc003xxu.1_Silent_p.T302T|PREX2_uc011lez.1_Silent_p.T237T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	302	PH.				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						GGATCAACACGGAGGTGATGG	0.408												
PREX2	80243	broad.mit.edu	37	8	68992731	68992731	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:68992731G>A	uc003xxv.1	+	16	1723	c.1696G>A	c.(1696-1698)GAT>AAT	p.D566N	PREX2_uc003xxu.1_Missense_Mutation_p.D566N|PREX2_uc011lez.1_Missense_Mutation_p.D501N	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	566	DEP 2.				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						TTTTTTTTCGGATGAGGAAAT	0.318												
NCOA2	10499	broad.mit.edu	37	8	71082472	71082472	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:71082472G>A	uc003xyn.1	-	6	668	c.506C>T	c.(505-507)ACG>ATG	p.T169M		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	169	PAS.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GACAAATTCCGTGTGGTCCCC	0.473			T	RUNXBP2	AML							
KCNB2	9312	broad.mit.edu	37	8	73480200	73480200	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:73480200C>T	uc003xzb.2	+	2	819	c.231C>T	c.(229-231)TGC>TGT	p.C77C		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	77	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TGGAAGTGTGCGACGACTATA	0.522												
LY96	23643	broad.mit.edu	37	8	74903699	74903699	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:74903699T>C	uc003yad.2	+	1	113	c.22T>C	c.(22-24)TCC>CCC	p.S8P		NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	MD-2 protein precursor	8					cellular defense response|detection of lipopolysaccharide|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|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding				0	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TCTGTTTTTTTCCACCCTGTT	0.368												
ZFHX4	79776	broad.mit.edu	37	8	77618298	77618298	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:77618298C>T	uc003yav.2	+	2	2362	c.1975C>T	c.(1975-1977)CTG>TTG	p.L659L	ZFHX4_uc003yat.1_Silent_p.L659L|ZFHX4_uc003yau.1_Silent_p.L659L|ZFHX4_uc003yaw.1_Silent_p.L659L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	659	C2H2-type 2.					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)			TCAGCAGACCCTGGAGGCCCA	0.502										HNSCC(33;0.089)		
CA3	761	broad.mit.edu	37	8	86358436	86358436	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:86358436G>T	uc003ydj.2	+	6	656	c.573G>T	c.(571-573)TGG>TGT	p.W191C	CA3_uc011lfv.1_RNA	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	191					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0						GGGACTACTGGACCTACCAGG	0.612												
PSKH2	85481	broad.mit.edu	37	8	87076656	87076656	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:87076656C>A	uc011lfy.1	-	2	390	c.390G>T	c.(388-390)GAG>GAT	p.E130D		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	130	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			AAACTTGATCCTCAGTCTCAA	0.542												
DCAF4L2	138009	broad.mit.edu	37	8	88885901	88885901	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:88885901C>T	uc003ydz.2	-	1	396	c.299G>A	c.(298-300)GGC>GAC	p.G100D		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	100										ovary(1)	1						GGTGATGATGCCGTACTTGGA	0.547												
DECR1	1666	broad.mit.edu	37	8	91013752	91013752	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:91013752T>G	uc003yek.1	+	1	173	c.32T>G	c.(31-33)CTG>CGG	p.L11R	DECR1_uc011lgc.1_5'UTR|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	11					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTCTTTACTCTGGGGTCCCGG	0.672											OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ESRP1	54845	broad.mit.edu	37	8	95680402	95680402	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:95680402C>T	uc003ygq.3	+	10	1340	c.1157C>T	c.(1156-1158)GCG>GTG	p.A386V	ESRP1_uc003ygr.3_Missense_Mutation_p.A386V|ESRP1_uc003ygs.3_Missense_Mutation_p.A386V|ESRP1_uc003ygt.3_Missense_Mutation_p.A386V|ESRP1_uc003ygu.3_Missense_Mutation_p.A386V|ESRP1_uc003ygv.2_Missense_Mutation_p.A226V|ESRP1_uc003ygw.2_Missense_Mutation_p.A226V	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	386	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						GCACAGAATGCGTTGAGGAAG	0.458												
GDF6	392255	broad.mit.edu	37	8	97172764	97172764	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:97172764G>A	uc003yhp.2	-	1	257	c.157C>T	c.(157-159)CGG>TGG	p.R53W		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	53					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					CGCGGCGCCCGCTGCATCTTG	0.706												
POP1	10940	broad.mit.edu	37	8	99139937	99139937	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:99139937G>A	uc003yij.3	+	3	357	c.257G>A	c.(256-258)GGA>GAA	p.G86E	POP1_uc011lgv.1_Missense_Mutation_p.G86E|POP1_uc003yik.2_Missense_Mutation_p.G86E	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	86					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)			AAAAAGGGAGGATGGAAAGCA	0.493												
PABPC1	26986	broad.mit.edu	37	8	101717277	101717277	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:101717277C>T	uc003yjs.1	-	13	2199	c.1695G>A	c.(1693-1695)CGG>CGA	p.R565R	PABPC1_uc011lhc.1_Silent_p.R533R|PABPC1_uc011lhd.1_Silent_p.R520R|PABPC1_uc003yjt.1_Silent_p.R562R|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	565	PABC.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GAGGAAACAGCCGTTCACCTA	0.373												
KLF10	7071	broad.mit.edu	37	8	103664221	103664221	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:103664221C>T	uc011lhk.1	-	3	493	c.339G>A	c.(337-339)GCG>GCA	p.A113A	KLF10_uc011lhj.1_Silent_p.A102A	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	113					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CAGTAGATGGCGCTGGTGCCA	0.453											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC25A32	81034	broad.mit.edu	37	8	104415462	104415462	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:104415462C>T	uc003yll.2	-	4	785	c.482G>A	c.(481-483)CGA>CAA	p.R161Q	SLC25A32_uc011lhr.1_Missense_Mutation_p.R29Q	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	solute carrier family 25, member 32	161	Solcar 2.				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TTTATATTGTCGGTGTGGGGA	0.338												
RIMS2	9699	broad.mit.edu	37	8	104924330	104924330	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:104924330G>A	uc003yls.2	+	4	1317	c.1076G>A	c.(1075-1077)CGC>CAC	p.R359H	RIMS2_uc003ylp.2_Missense_Mutation_p.R581H|RIMS2_uc003ylw.2_Missense_Mutation_p.R389H|RIMS2_uc003ylq.2_Missense_Mutation_p.R389H|RIMS2_uc003ylr.2_Missense_Mutation_p.R436H|RIMS2_uc003ylt.2_5'UTR	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	659					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)			TTAATTGGTCGCATTTTATTA	0.328										HNSCC(12;0.0054)		
LRP12	29967	broad.mit.edu	37	8	105509436	105509436	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:105509436G>A	uc003yma.2	-	5	1439	c.1344C>T	c.(1342-1344)TGC>TGT	p.C448C	LRP12_uc003ymb.2_Silent_p.C429C|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	448	Extracellular (Potential).|LDL-receptor class A 4.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGCAAAAAAAGCAGTTTTTTT	0.418												
ZFPM2	23414	broad.mit.edu	37	8	106431520	106431520	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:106431520T>C	uc003ymd.2	+	2	212	c.189T>C	c.(187-189)TTT>TTC	p.F63F		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	63					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGGAATACTTTTGTAACAAAG	0.368												
PKHD1L1	93035	broad.mit.edu	37	8	110539153	110539153	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:110539153G>C	uc003yne.2	+	77	12729	c.12625G>C	c.(12625-12627)GCC>CCC	p.A4209P		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	4209	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGTACATATGCCCAGATAAT	0.343										HNSCC(38;0.096)		
SYBU	55638	broad.mit.edu	37	8	110587169	110587169	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:110587169G>A	uc003ynj.3	-	7	2121	c.1958C>T	c.(1957-1959)TCG>TTG	p.S653L	SYBU_uc003yni.3_Missense_Mutation_p.S650L|SYBU_uc003ynk.3_Missense_Mutation_p.S534L|SYBU_uc010mco.2_Missense_Mutation_p.S652L|SYBU_uc003ynl.3_Missense_Mutation_p.S652L|SYBU_uc010mcp.2_Missense_Mutation_p.S653L|SYBU_uc010mcq.2_Missense_Mutation_p.S653L|SYBU_uc003yno.3_Missense_Mutation_p.S534L|SYBU_uc010mcr.2_Missense_Mutation_p.S653L|SYBU_uc003ynm.3_Missense_Mutation_p.S652L|SYBU_uc003ynn.3_Missense_Mutation_p.S652L|SYBU_uc010mcs.2_Missense_Mutation_p.S534L|SYBU_uc010mct.2_Missense_Mutation_p.S653L|SYBU_uc010mcu.2_Missense_Mutation_p.S652L|SYBU_uc003ynp.3_Missense_Mutation_p.S585L|SYBU_uc010mcv.2_Missense_Mutation_p.S653L|SYBU_uc003ynh.3_Missense_Mutation_p.S447L|SYBU_uc011lhw.1_Missense_Mutation_p.S523L	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	653						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						GCGGCGGAGCGAATGCAGGGC	0.547												
CSMD3	114788	broad.mit.edu	37	8	113293470	113293470	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:113293470A>G	uc003ynu.2	-	59	9600	c.9441T>C	c.(9439-9441)CTT>CTC	p.L3147L	CSMD3_uc003yns.2_Silent_p.L2349L|CSMD3_uc003ynt.2_Silent_p.L3107L|CSMD3_uc011lhx.1_Silent_p.L2978L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3147	Extracellular (Potential).|Sushi 23.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AAGGTCCAGAAAGGATGTATC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113364726	113364726	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:113364726A>G	uc003ynu.2	-	39	6333	c.6174T>C	c.(6172-6174)CCT>CCC	p.P2058P	CSMD3_uc003yns.2_Silent_p.P1260P|CSMD3_uc003ynt.2_Silent_p.P2018P|CSMD3_uc011lhx.1_Silent_p.P1954P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2058	Extracellular (Potential).|Sushi 11.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTCCACTGCTAGGAGTTTGTG	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113518988	113518988	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:113518988C>T	uc003ynu.2	-	29	4986	c.4827G>A	c.(4825-4827)CCG>CCA	p.P1609P	CSMD3_uc003yns.2_Silent_p.P881P|CSMD3_uc003ynt.2_Silent_p.P1569P|CSMD3_uc011lhx.1_Silent_p.P1505P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1609	Extracellular (Potential).|CUB 9.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CTCTGCTATGCGGATATGGAT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116427181	116427181	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:116427181C>A	uc003ynz.2	-	6	3375	c.2916G>T	c.(2914-2916)GAG>GAT	p.E972D	TRPS1_uc011lhy.1_Missense_Mutation_p.E976D|TRPS1_uc003yny.2_Missense_Mutation_p.E985D|TRPS1_uc010mcy.2_Missense_Mutation_p.E972D	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	972					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)			TGACTTGCTCCTCATTGCTGC	0.488									Langer-Giedion_syndrome			
TRPS1	7227	broad.mit.edu	37	8	116599543	116599543	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:116599543G>A	uc003ynz.2	-	4	2805	c.2346C>T	c.(2344-2346)ACC>ACT	p.T782T	TRPS1_uc011lhy.1_Silent_p.T786T|TRPS1_uc003yny.2_Silent_p.T795T|TRPS1_uc010mcy.2_Silent_p.T782T	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	782	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGAACTCTCGGTCCAAACTT	0.542									Langer-Giedion_syndrome			
EXT1	2131	broad.mit.edu	37	8	118830743	118830743	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:118830743C>T	uc003yok.1	-	7	2336	c.1563G>A	c.(1561-1563)AAG>AAA	p.K521K		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	521	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|lung(2)	4	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGGTAGGGGCTTGTCACAAT	0.507			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome			
ENPP2	5168	broad.mit.edu	37	8	120598486	120598486	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:120598486G>A	uc003yot.1	-	15	1393	c.1307C>T	c.(1306-1308)GCC>GTC	p.A436V	ENPP2_uc011lic.1_5'Flank|ENPP2_uc003yor.1_Missense_Mutation_p.A75V|ENPP2_uc003yos.1_Missense_Mutation_p.A488V|ENPP2_uc010mdd.1_Missense_Mutation_p.A436V	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	436					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCTGTTGTTGGCATAGTGCAA	0.398												
DSCC1	79075	broad.mit.edu	37	8	120859283	120859283	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:120859283C>G	uc003yov.2	-	4	659	c.524G>C	c.(523-525)AGT>ACT	p.S175T		NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	defective in sister chromatid cohesion 1	175					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCTTCCTCACTTGCCTGAAT	0.313												
COL14A1	7373	broad.mit.edu	37	8	121357800	121357800	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:121357800G>A	uc003yox.2	+	45	5340	c.5075G>A	c.(5074-5076)CGA>CAA	p.R1692Q	COL14A1_uc003yoz.2_Missense_Mutation_p.R657Q	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1692	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCAGGAGAACGAGGTAAGCTG	0.572												
MTBP	27085	broad.mit.edu	37	8	121463481	121463481	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:121463481C>T	uc003ypc.1	+	4	389	c.344C>T	c.(343-345)ACG>ATG	p.T115M	MTBP_uc003ypb.1_Missense_Mutation_p.T115M|MTBP_uc011lie.1_RNA	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	115					cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GTTCTTCAAACGAATATCGAA	0.308												
ZHX1	11244	broad.mit.edu	37	8	124267534	124267534	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:124267534C>T	uc003yqe.2	-	3	1083	c.653G>A	c.(652-654)CGT>CAT	p.R218H	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.R218H|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.R218H	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	218					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AATTTCTTCACGGTCTGGTTT	0.363												
FAM91A1	157769	broad.mit.edu	37	8	124787486	124787486	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:124787486T>C	uc003yqv.2	+	3	318	c.257T>C	c.(256-258)ATG>ACG	p.M86T	FAM91A1_uc011lik.1_Missense_Mutation_p.M86T|FAM91A1_uc011lil.1_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	86										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)			TCGGATATTATGGTGAAAGGC	0.423												
RNF139	11236	broad.mit.edu	37	8	125499070	125499070	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:125499070T>C	uc003yrc.2	+	2	1523	c.1180T>C	c.(1180-1182)TTT>CTT	p.F394L		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	394	Helical; (Potential).				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)	1	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCTGTGCTGTTTGTCTCTGC	0.403									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			
SQLE	6713	broad.mit.edu	37	8	126034042	126034042	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:126034042C>T	uc011liq.1	+	11	2506	c.1580C>T	c.(1579-1581)GCA>GTA	p.A527V		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	527					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGCTGTTGCAATCTATGCC	0.368												
GSDMC	56169	broad.mit.edu	37	8	130760756	130760756	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:130760756A>G	uc003ysr.2	-	14	2400	c.1518T>C	c.(1516-1518)GCT>GCC	p.A506A		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	melanoma-derived leucine zipper, extra-nuclear	506						mitochondrion				ovary(2)|skin(1)	3						CTTAGGCCTCAGCCAGCTGCT	0.572												
ADCY8	114	broad.mit.edu	37	8	131792713	131792713	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:131792713G>A	uc003ytd.3	-	18	3935	c.3679C>T	c.(3679-3681)CGG>TGG	p.R1227W	ADCY8_uc010mds.2_Missense_Mutation_p.R1096W	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1227	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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAAGTCCGCCGGTTGTAATGA	0.493										HNSCC(32;0.087)		
KCNQ3	3786	broad.mit.edu	37	8	133142016	133142016	+	Silent	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:133142016A>G	uc003ytj.2	-	15	2337	c.2112T>C	c.(2110-2112)ATT>ATC	p.I704I	KCNQ3_uc010mdt.2_Silent_p.I692I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	704					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGACTTTGTCAATGGTCACCT	0.532												
TG	7038	broad.mit.edu	37	8	133900795	133900795	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:133900795C>T	uc003ytw.2	+	10	2784	c.2743C>T	c.(2743-2745)CCA>TCA	p.P915S		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	915	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)		GCGGTCTGAGCCAAGCAAGCT	0.378												
TG	7038	broad.mit.edu	37	8	133909917	133909917	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:133909917C>T	uc003ytw.2	+	12	3066	c.3025C>T	c.(3025-3027)CGC>TGC	p.R1009C	TG_uc010mdw.2_5'UTR	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1009	Thyroglobulin type-1 8.				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)		TCAGAGACGCCGCTTTTCCCC	0.567												
TG	7038	broad.mit.edu	37	8	133925436	133925436	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:133925436G>T	uc003ytw.2	+	20	4345	c.4304G>T	c.(4303-4305)AGG>ATG	p.R1435M	TG_uc010mdw.2_Missense_Mutation_p.R194M	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1435					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)		ACCTCTCCCAGGACATGGTTT	0.562												
TG	7038	broad.mit.edu	37	8	133961176	133961176	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:133961176G>T	uc003ytw.2	+	27	5430	c.5389G>T	c.(5389-5391)GAG>TAG	p.E1797*	TG_uc010mdw.2_Nonsense_Mutation_p.E556*|TG_uc011ljb.1_Nonsense_Mutation_p.E166*	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1797	Type IIIB.				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)		TGGAGACCAGGAGTTCATCAA	0.473												
FAM135B	51059	broad.mit.edu	37	8	139164310	139164310	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:139164310C>T	uc003yuy.2	-	13	2579	c.2408G>A	c.(2407-2409)AGC>AAC	p.S803N	FAM135B_uc003yux.2_Missense_Mutation_p.S704N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S365N|FAM135B_uc003yvb.2_Missense_Mutation_p.S365N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	803										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGGCTCTTGCTGTGCATATC	0.517										HNSCC(54;0.14)		
COL22A1	169044	broad.mit.edu	37	8	139890450	139890450	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:139890450G>T	uc003yvd.2	-	3	648	c.201C>A	c.(199-201)ACC>ACA	p.T67T		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	67	VWFA.				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)			CCACCTCGAAGGTGTCCACCA	0.657										HNSCC(7;0.00092)		
TRAPPC9	83696	broad.mit.edu	37	8	141461249	141461249	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:141461249C>T	uc003yvj.2	-	2	358	c.224G>A	c.(223-225)CGC>CAC	p.R75H	TRAPPC9_uc003yvh.2_Missense_Mutation_p.R173H|TRAPPC9_uc003yvi.1_Missense_Mutation_p.R75H	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	75					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						CACGACTTTGCGGTGGGTCTG	0.587												
DENND3	22898	broad.mit.edu	37	8	142176477	142176477	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:142176477G>A	uc003yvy.2	+	12	1780	c.1502G>A	c.(1501-1503)GGC>GAC	p.G501D	DENND3_uc010mep.2_Missense_Mutation_p.G462D|DENND3_uc003yvz.1_Missense_Mutation_p.G185D	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	501										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCTGTAGGGGCAGCAGCGCA	0.622												
ZC3H3	23144	broad.mit.edu	37	8	144550640	144550640	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144550640A>C	uc003yyd.2	-	7	2046	c.2017T>G	c.(2017-2019)TGC>GGC	p.C673G		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	673	C3H1-type 1.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TAGTACATGCAGTACTCCTTC	0.667												
PYCRL	65263	broad.mit.edu	37	8	144688837	144688837	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144688837T>G	uc003yyy.2	-	4	395	c.385A>C	c.(385-387)AAC>CAC	p.N129H	PYCRL_uc011lkm.1_Intron|PYCRL_uc011lkn.1_RNA	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	117					proline biosynthetic process		pyrroline-5-carboxylate reductase activity				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;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACCCGTGTGTTTGGGGGCAGC	0.667												
FAM83H	286077	broad.mit.edu	37	8	144810228	144810228	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144810228C>T	uc003yzk.2	-	5	1472	c.1403G>A	c.(1402-1404)CGC>CAC	p.R468H	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	468					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCTTGCGGGCGCGCCGGCGT	0.706												
SCRIB	23513	broad.mit.edu	37	8	144891172	144891172	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144891172G>A	uc003yzp.1	-	15	1729	c.1722C>T	c.(1720-1722)GAC>GAT	p.D574D	SCRIB_uc003yzo.1_Silent_p.D574D	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	574	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCAGCAGTGCGTCCTCTGCGA	0.652												
EPPK1	83481	broad.mit.edu	37	8	144942815	144942815	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144942815G>A	uc003zaa.1	-	1	4620	c.4607C>T	c.(4606-4608)GCG>GTG	p.A1536V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1536						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GATCAGCTGCGCCCTGAACAG	0.652												
PLEC	5339	broad.mit.edu	37	8	144993438	144993438	+	Silent	SNP	C	C	T	rs116901140	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144993438C>T	uc003zaf.1	-	32	11132	c.10962G>A	c.(10960-10962)ACG>ACA	p.T3654T	PLEC_uc003zab.1_Silent_p.T3517T|PLEC_uc003zac.1_Silent_p.T3521T|PLEC_uc003zad.2_Silent_p.T3517T|PLEC_uc003zae.1_Silent_p.T3485T|PLEC_uc003zag.1_Silent_p.T3495T|PLEC_uc003zah.2_Silent_p.T3503T|PLEC_uc003zaj.2_Silent_p.T3544T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3654	Globular 2.|Plectin 16.				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						GGTTCTCATGCGTGTTGGGGT	0.642												
PLEC	5339	broad.mit.edu	37	8	144993811	144993811	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144993811G>A	uc003zaf.1	-	32	10759	c.10589C>T	c.(10588-10590)GCG>GTG	p.A3530V	PLEC_uc003zab.1_Missense_Mutation_p.A3393V|PLEC_uc003zac.1_Missense_Mutation_p.A3397V|PLEC_uc003zad.2_Missense_Mutation_p.A3393V|PLEC_uc003zae.1_Missense_Mutation_p.A3361V|PLEC_uc003zag.1_Missense_Mutation_p.A3371V|PLEC_uc003zah.2_Missense_Mutation_p.A3379V|PLEC_uc003zaj.2_Missense_Mutation_p.A3420V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3530	Plectin 13.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCAGTGGCCGCCTGCGCCTC	0.677												
PLEC	5339	broad.mit.edu	37	8	144995199	144995199	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144995199C>T	uc003zaf.1	-	32	9371	c.9201G>A	c.(9199-9201)TCG>TCA	p.S3067S	PLEC_uc003zab.1_Silent_p.S2930S|PLEC_uc003zac.1_Silent_p.S2934S|PLEC_uc003zad.2_Silent_p.S2930S|PLEC_uc003zae.1_Silent_p.S2898S|PLEC_uc003zag.1_Silent_p.S2908S|PLEC_uc003zah.2_Silent_p.S2916S|PLEC_uc003zaj.2_Silent_p.S2957S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3067	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGAAGTATTCCGAGTTGATGA	0.602												
PLEC	5339	broad.mit.edu	37	8	144995468	144995468	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144995468G>A	uc003zaf.1	-	32	9102	c.8932C>T	c.(8932-8934)CGC>TGC	p.R2978C	PLEC_uc003zab.1_Missense_Mutation_p.R2841C|PLEC_uc003zac.1_Missense_Mutation_p.R2845C|PLEC_uc003zad.2_Missense_Mutation_p.R2841C|PLEC_uc003zae.1_Missense_Mutation_p.R2809C|PLEC_uc003zag.1_Missense_Mutation_p.R2819C|PLEC_uc003zah.2_Missense_Mutation_p.R2827C|PLEC_uc003zaj.2_Missense_Mutation_p.R2868C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2978	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCAGGACGCGGTTCATCTCC	0.672												
OPLAH	26873	broad.mit.edu	37	8	145110070	145110070	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145110070C>T	uc003zar.3	-	17	2353	c.2271G>A	c.(2269-2271)CAG>CAA	p.Q757Q	OPLAH_uc003zas.1_Silent_p.Q6Q	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	757							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TGGCTGTGCGCTGCAGGATGC	0.647												
OPLAH	26873	broad.mit.edu	37	8	145111623	145111623	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145111623C>T	uc003zar.3	-	13	1824	c.1742G>A	c.(1741-1743)CGC>CAC	p.R581H	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	581							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCCCTGGTAGCGCAGGTGCAG	0.682												
GPAA1	8733	broad.mit.edu	37	8	145139149	145139149	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145139149C>T	uc003zax.2	+	6	839	c.729C>T	c.(727-729)AAC>AAT	p.N243N	GPAA1_uc003zav.1_Silent_p.N121N|GPAA1_uc003zaw.1_Silent_p.N183N	NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	243	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGGGCTTAACGGGCAGCTGC	0.647												
GPAA1	8733	broad.mit.edu	37	8	145139362	145139362	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145139362T>C	uc003zax.2	+	7	970	c.860T>C	c.(859-861)CTG>CCG	p.L287P	GPAA1_uc003zav.1_Missense_Mutation_p.L165P|GPAA1_uc003zaw.1_Missense_Mutation_p.L227P	NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	287	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCAGGGCCTGCAGACACTG	0.652												
CYHR1	50626	broad.mit.edu	37	8	145689987	145689987	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145689987T>C	uc003zcv.2	-	2	236	c.102A>G	c.(100-102)CGA>CGG	p.R34R	CYHR1_uc003zcw.2_Silent_p.R34R|CYHR1_uc003zcx.2_Silent_p.R34R|CYHR1_uc003zcy.2_Silent_p.R34R|KIFC2_uc003zcz.2_5'Flank	NM_138496	NP_612505	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1 isoform 1	34						perinuclear region of cytoplasm	zinc ion 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;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CAGCAGCCCCTCGACTTGCCT	0.612												
MFSD3	113655	broad.mit.edu	37	8	145735838	145735838	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145735838G>A	uc003zdi.1	+	2	943	c.778G>A	c.(778-780)GTC>ATC	p.V260I		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing	260	Leu-rich.|Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(2)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGGTGCTGTGGTCTGCTCCAT	0.632												
KANK1	23189	broad.mit.edu	37	9	712285	712285	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:712285G>A	uc003zgl.1	+	7	2168	c.1519G>A	c.(1519-1521)GCC>ACC	p.A507T	KANK1_uc003zgm.2_Missense_Mutation_p.A507T|KANK1_uc003zgn.1_Missense_Mutation_p.A507T|KANK1_uc003zgo.1_Missense_Mutation_p.A507T|KANK1_uc003zgp.1_Missense_Mutation_p.A507T|KANK1_uc003zgq.2_Missense_Mutation_p.A349T|KANK1_uc003zgr.1_Missense_Mutation_p.A349T|KANK1_uc003zgs.1_Missense_Mutation_p.A349T	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	507					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AGCCACGATGGCCCAGCCGCT	0.537												
KCNV2	169522	broad.mit.edu	37	9	2718054	2718054	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:2718054C>T	uc003zho.1	+	1	529	c.315C>T	c.(313-315)GGC>GGT	p.G105G		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	105	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		ACGTGGGTGGCCACAGCTACC	0.687												
JAK2	3717	broad.mit.edu	37	9	5077560	5077560	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:5077560G>A	uc010mhm.2	+	14	2085	c.1972G>A	c.(1972-1974)GCA>ACA	p.A658T	JAK2_uc003ziw.2_Missense_Mutation_p.A658T	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	658	Protein kinase 1.				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)		TAAACAGTTGGCATGGGCCAT	0.269		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial			
INSL6	11172	broad.mit.edu	37	9	5185415	5185415	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:5185415C>A	uc003zix.2	-	1	204	c.188G>T	c.(187-189)CGG>CTG	p.R63L		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	insulin-like 6 precursor	63						extracellular region	hormone activity				0	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		TGCAATCAACCGTGAGAAAGG	0.567												
KIAA1432	57589	broad.mit.edu	37	9	5743013	5743013	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:5743013C>T	uc003zji.2	+	8	902	c.809C>T	c.(808-810)GCT>GTT	p.A270V	KIAA1432_uc003zjh.2_Missense_Mutation_p.A270V|KIAA1432_uc003zjl.3_Missense_Mutation_p.A270V|KIAA1432_uc003zjj.1_5'UTR	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	349						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGAGATTTTGCGTAAGTCAAA	0.378												
PTPRD	5789	broad.mit.edu	37	9	8633359	8633359	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:8633359C>T	uc003zkk.2	-	13	1021	c.310G>A	c.(310-312)GTG>ATG	p.V104M	PTPRD_uc003zkp.2_Missense_Mutation_p.V104M|PTPRD_uc003zkq.2_Missense_Mutation_p.V104M|PTPRD_uc003zkr.2_Missense_Mutation_p.V104M|PTPRD_uc003zks.2_Missense_Mutation_p.V104M|PTPRD_uc003zkl.2_Missense_Mutation_p.V104M|PTPRD_uc003zkm.2_Missense_Mutation_p.V104M|PTPRD_uc003zkn.2_Missense_Mutation_p.V104M|PTPRD_uc003zko.2_Missense_Mutation_p.V104M|PTPRD_uc003zkt.1_Missense_Mutation_p.V104M	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	104	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTTCTCCCACATTATTTGAG	0.433										TSP Lung(15;0.13)		
C9orf150	286343	broad.mit.edu	37	9	12775777	12775777	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:12775777C>T	uc003zkw.2	+	1	766	c.63C>T	c.(61-63)CCC>CCT	p.P21P		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	hypothetical protein LOC286343	21											0				GBM - Glioblastoma multiforme(1;1.64e-13)		GCAAAGTACCCGAGAGTCTAG	0.517												
SNAPC3	6619	broad.mit.edu	37	9	15423075	15423075	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:15423075G>A	uc003zlt.2	+	1	294	c.198G>A	c.(196-198)CCG>CCA	p.P66P	SNAPC3_uc011lmt.1_Silent_p.P66P|SNAPC3_uc003zlu.2_RNA	NM_001039697	NP_001034786	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex,	66					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding				0				GBM - Glioblastoma multiforme(50;2.15e-06)		TGAGGGAGCCGCCGGCATCCG	0.711												
BNC2	54796	broad.mit.edu	37	9	16419430	16419430	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:16419430T>C	uc003zml.2	-	7	2997	c.2857A>G	c.(2857-2859)ATG>GTG	p.M953V	BNC2_uc011lmw.1_Missense_Mutation_p.M858V|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.M740V	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	953					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)		TCCTCTGCCATGCCTCTCCCA	0.592												
BNC2	54796	broad.mit.edu	37	9	16436043	16436043	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:16436043C>T	uc003zml.2	-	6	2289	c.2149G>A	c.(2149-2151)GAA>AAA	p.E717K	BNC2_uc011lmw.1_Missense_Mutation_p.E622K|BNC2_uc003zmm.2_Missense_Mutation_p.E675K|BNC2_uc003zmq.1_Missense_Mutation_p.E731K|BNC2_uc003zmr.1_Missense_Mutation_p.E754K|BNC2_uc003zmp.1_Missense_Mutation_p.E745K|BNC2_uc010mij.1_Missense_Mutation_p.E639K|BNC2_uc011lmv.1_Missense_Mutation_p.E543K|BNC2_uc003zmo.1_Missense_Mutation_p.E639K|BNC2_uc003zmj.2_Missense_Mutation_p.E482K|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.E482K|BNC2_uc003zmn.1_Missense_Mutation_p.E482K	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	717					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)		CGCTCAGGTTCTTGGTCTTCA	0.517												
MLLT3	4300	broad.mit.edu	37	9	20414313	20414313	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:20414313G>A	uc003zoe.2	-	5	790	c.531C>T	c.(529-531)AGC>AGT	p.S177S	MLLT3_uc011lne.1_Silent_p.S145S|MLLT3_uc011lnf.1_Silent_p.S174S|MLLT3_uc003zof.2_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	177	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.134			T	MLL	ALL							
IFNA6	3443	broad.mit.edu	37	9	21350820	21350820	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:21350820C>T	uc011lni.1	-	1	67	c.67G>A	c.(67-69)GAC>AAC	p.D23N		NM_021002	NP_066282	P05013	IFNA6_HUMAN	interferon, alpha 6 precursor	23					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AGATCACAGTCCAGAGAGCAG	0.517												
CDKN2A	1029	broad.mit.edu	37	9	21971139	21971139	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:21971139G>T	uc003zpk.2	-	2	431	c.219C>A	c.(217-219)GCC>GCA	p.A73A	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.R129R	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	73					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.A73G(1)|p.A73A(1)|p.L65fs*38(1)|p.A73T(1)|p.V59fs*45(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.A73P(1)|p.A73S(1)|p.C72fs*71(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCGGGGTCGGCGCAGTTGG	0.711		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
IFT74	80173	broad.mit.edu	37	9	26984558	26984558	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:26984558G>A	uc010mja.2	+	6	592	c.465_splice	c.e6+1	p.M155_splice	IFT74_uc010mjb.2_Splice_Site_p.M155_splice|IFT74_uc003zqf.3_Splice_Site_p.M155_splice|IFT74_uc003zqg.3_Splice_Site_p.M155_splice	NM_001099223	NP_001092693	Q96LB3	IFT74_HUMAN	coiled-coil domain containing 2 isoform a							cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				skin(1)	1		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		CTACAACATGGTATTTTATCT	0.239												
CHMP5	51510	broad.mit.edu	37	9	33264393	33264393	+	Translation_Start_Site	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:33264393G>T	uc003zsl.3	+	1	227	c.-128G>T	c.(-130--126)CAGGG>CATGG		SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_Intron|BAG1_uc003zsj.2_Missense_Mutation_p.L94M|BAG1_uc003zsk.2_Translation_Start_Site|CHMP5_uc003zsm.3_5'Flank|CHMP5_uc011lnv.1_5'Flank	NM_016410	NP_057494	Q9NZZ3	CHMP5_HUMAN	chromatin modifying protein 5						cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			TCCTCACTCAGGGTCAACTCC	0.682												
NOL6	65083	broad.mit.edu	37	9	33466935	33466935	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:33466935T>C	uc003zsz.2	-	15	2026	c.1925A>G	c.(1924-1926)GAT>GGT	p.D642G	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.D642G|NOL6_uc010mjv.2_Missense_Mutation_p.D639G|NOL6_uc011lob.1_Missense_Mutation_p.D590G|NOL6_uc003ztb.1_Missense_Mutation_p.D642G	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	642					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)		GATAAGTGCATCCAGGGGGCC	0.527											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIAA1161	57462	broad.mit.edu	37	9	34372003	34372003	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:34372003G>A	uc003zue.3	-	3	1106	c.939C>T	c.(937-939)TTC>TTT	p.F313F		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	313	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGGGGTCTCGGAAGGCCTCGG	0.612												
C9orf25	203259	broad.mit.edu	37	9	34400994	34400994	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:34400994C>T	uc011lok.1	-	6	833	c.526G>A	c.(526-528)GCC>ACC	p.A176T	C9orf25_uc003zuj.2_Missense_Mutation_p.A159T|C9orf25_uc003zuk.2_Missense_Mutation_p.A148T|C9orf25_uc011lol.1_Missense_Mutation_p.A164T|C9orf25_uc003zul.2_Missense_Mutation_p.A147T	NM_147202	NP_671735	Q8IW50	CI025_HUMAN	hypothetical protein LOC203259	176											0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.0858)		GAGGACGTGGCCTGGCAGCAC	0.697												
TESK1	7016	broad.mit.edu	37	9	35606933	35606933	+	Missense_Mutation	SNP	C	C	T	rs142996260	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:35606933C>T	uc003zxa.2	+	4	826	c.490C>T	c.(490-492)CGG>TGG	p.R164W	TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Silent_p.C31C	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	164	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGAGGCCTGCGGTACCTGCA	0.577												
TPM2	7169	broad.mit.edu	37	9	35685730	35685730	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:35685730C>T	uc003zxq.2	-	3	527	c.288G>A	c.(286-288)GAG>GAA	p.E96E	TPM2_uc003zxr.2_Silent_p.E96E|TPM2_uc003zxs.2_Silent_p.E96E|TPM2_uc010mkz.2_Silent_p.E96E|TPM2_uc011lpa.1_Silent_p.E96E	NM_213674	NP_998839	P07951	TPM2_HUMAN	tropomyosin 2 (beta) isoform 2	96	By similarity.				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			ovary(1)	1	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCTCCTCCTCAACCAGCT	0.627												
FBXO10	26267	broad.mit.edu	37	9	37516037	37516037	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:37516037C>T	uc004aab.2	-	10	2609	c.2560G>A	c.(2560-2562)GTG>ATG	p.V854M	FBXO10_uc004aac.2_Missense_Mutation_p.V870M|FBXO10_uc004aad.2_Missense_Mutation_p.V404M	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	854	PbH1 17.					ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		CGGCCCCGCACGGCGATGCCG	0.473												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478												
TJP2	9414	broad.mit.edu	37	9	71827467	71827467	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:71827467C>A	uc004ahe.2	+	2	264	c.64C>A	c.(64-66)CCA>ACA	p.P22T	TJP2_uc011lrs.1_5'UTR|TJP2_uc004ahb.1_5'UTR|TJP2_uc011lrt.1_5'UTR|TJP2_uc004ahd.2_Missense_Mutation_p.P22T|TJP2_uc004ahf.2_Missense_Mutation_p.P22T|TJP2_uc011lru.1_Missense_Mutation_p.P26T|TJP2_uc011lrv.1_Missense_Mutation_p.P44T	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	22					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						AAAACAGGCCCCAGGCATGGA	0.378												
TRPM3	80036	broad.mit.edu	37	9	73253991	73253991	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:73253991C>A	uc004aid.2	-	11	1810	c.1566G>T	c.(1564-1566)GAG>GAT	p.E522D	TRPM3_uc004ahu.2_Missense_Mutation_p.E352D|TRPM3_uc004ahv.2_Intron|TRPM3_uc004ahw.2_Missense_Mutation_p.E394D|TRPM3_uc004ahx.2_Missense_Mutation_p.E369D|TRPM3_uc004ahy.2_Missense_Mutation_p.E394D|TRPM3_uc004ahz.2_Missense_Mutation_p.E369D|TRPM3_uc004aia.2_Missense_Mutation_p.E369D|TRPM3_uc004aib.2_Missense_Mutation_p.E369D|TRPM3_uc004aic.2_Missense_Mutation_p.E522D|TRPM3_uc010mor.2_Missense_Mutation_p.E522D	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	547	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TGTACAATTCCTCTAGTCTGG	0.413												
RORB	6096	broad.mit.edu	37	9	77112896	77112896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:77112896C>T	uc004ajh.2	+	1	645	c.4C>T	c.(4-6)CGA>TGA	p.R2*		NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	Error:Variant_position_missing_in_Q92753_after_alignment					eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						CCACACCATGCGAGGTAAGCG	0.657												
VPS13A	23230	broad.mit.edu	37	9	79853296	79853296	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:79853296G>A	uc004akr.2	+	19	2154	c.1894G>A	c.(1894-1896)GCA>ACA	p.A632T	VPS13A_uc004akp.3_Missense_Mutation_p.A632T|VPS13A_uc004akq.3_Missense_Mutation_p.A632T|VPS13A_uc004aks.2_Missense_Mutation_p.A632T	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	632					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						CAGTAAGACAGCAACAGGTAA	0.318												
PSAT1	29968	broad.mit.edu	37	9	80923424	80923424	+	Missense_Mutation	SNP	G	G	A	rs114496656	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:80923424G>A	uc004ala.2	+	6	733	c.665G>A	c.(664-666)CGA>CAA	p.R222Q	PSAT1_uc004alb.2_Missense_Mutation_p.R222Q	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	222					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TTTGCCCTCCGAGAGTGCCCC	0.537												
KIF27	55582	broad.mit.edu	37	9	86503402	86503402	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:86503402A>G	uc004ana.2	-	8	2227	c.2083_splice	c.e8+1	p.D695_splice	KIF27_uc010mpw.2_Splice_Site_p.D695_splice|KIF27_uc010mpx.2_Splice_Site_p.D695_splice	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27						cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						AGATCTATGTACCTTCATTCT	0.358												
NTRK2	4915	broad.mit.edu	37	9	87570335	87570335	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:87570335A>T	uc004aoa.1	+	18	2965	c.2027A>T	c.(2026-2028)GAT>GTT	p.D676V	NTRK2_uc004any.1_Missense_Mutation_p.D676V|NTRK2_uc004anz.1_Missense_Mutation_p.D692V	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	676	Protein kinase.|Cytoplasmic (Potential).	Proton acceptor (By similarity).			activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GTGCACCGCGATTTGGCCACC	0.607										TSP Lung(25;0.17)		
AGTPBP1	23287	broad.mit.edu	37	9	88200387	88200387	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:88200387C>T	uc011ltd.1	-	22	3189	c.3156G>A	c.(3154-3156)ACG>ACA	p.T1052T	AGTPBP1_uc004aod.3_Silent_p.T678T|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Silent_p.T1012T|AGTPBP1_uc011lte.1_Silent_p.T1064T	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1052					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						CCCTGTATCCCGTATCCTCCA	0.333												
GAS1	2619	broad.mit.edu	37	9	89561023	89561023	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:89561023G>A	uc004aox.3	-	1	1082	c.672C>T	c.(670-672)TGC>TGT	p.C224C	uc004aoy.2_5'Flank	NM_002048	NP_002039	P54826	GAS1_HUMAN	growth arrest-specific 1 precursor	224					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane					0						CGAGGCCGTCGCACACGCAGT	0.677												
C9orf170	401535	broad.mit.edu	37	9	89763793	89763793	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:89763793G>A	uc004apa.1	+	1	235	c.148G>A	c.(148-150)GGT>AGT	p.G50S		NM_001001709	NP_001001709	A2RU37	CI170_HUMAN	hypothetical protein LOC401535	50											0						CTGCTCAGTCGGTGCAAATGG	0.602												
SYK	6850	broad.mit.edu	37	9	93636994	93636994	+	Silent	SNP	C	C	T	rs142936514	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:93636994C>T	uc004aqz.2	+	9	1249	c.1044C>T	c.(1042-1044)TAC>TAT	p.Y348Y	SYK_uc004ara.2_Silent_p.Y325Y|SYK_uc004arb.2_Silent_p.Y325Y|SYK_uc004arc.2_Silent_p.Y348Y|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	NM_003177	NP_003168	P43405	KSYK_HUMAN	spleen tyrosine kinase isoform 1	348	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5						CAGAGGTGTACGAGAGCCCCT	0.572			T	ETV6|ITK	MDS|peripheral T-cell lymphoma							
ROR2	4920	broad.mit.edu	37	9	94487188	94487188	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:94487188G>A	uc004arj.1	-	9	1787	c.1588C>T	c.(1588-1590)CGG>TGG	p.R530W	ROR2_uc004ari.1_Missense_Mutation_p.R390W	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	530	Cytoplasmic (Potential).|Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						TGTTGCAGCCGTGCTCGCAGC	0.647												
WNK2	65268	broad.mit.edu	37	9	96051356	96051356	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:96051356C>T	uc004ati.1	+	20	4431	c.4431C>T	c.(4429-4431)CAC>CAT	p.H1477H	WNK2_uc011lud.1_Silent_p.H1440H|WNK2_uc004atj.2_Silent_p.H1440H|WNK2_uc004atk.2_Silent_p.H1077H|WNK2_uc004atl.1_Silent_p.H35H	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1477					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						CGGAGACTCACGAGGCCCCGC	0.672												
PHF2	5253	broad.mit.edu	37	9	96422621	96422621	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:96422621A>G	uc004aub.2	+	12	1624	c.1477A>G	c.(1477-1479)ACT>GCT	p.T493A	PHF2_uc011lug.1_Missense_Mutation_p.T376A|PHF2_uc004auc.2_5'Flank	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	493	Pro-rich.|Lys-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CAAAAAAAAGACTCCCAAAAC	0.433												
PHF2	5253	broad.mit.edu	37	9	96422642	96422642	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:96422642C>A	uc004aub.2	+	12	1645	c.1498C>A	c.(1498-1500)CCC>ACC	p.P500T	PHF2_uc011lug.1_Missense_Mutation_p.P383T|PHF2_uc004auc.2_5'Flank	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	500	Pro-rich.|Lys-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGTGAAGATGCCCAAGCCATC	0.418												
BARX1	56033	broad.mit.edu	37	9	96715034	96715034	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:96715034G>A	uc010mrh.2	-	3	757	c.577C>T	c.(577-579)CGG>TGG	p.R193W	BARX1_uc004aud.2_Missense_Mutation_p.R39W	NM_021570	NP_067545	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	193	Homeobox.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TTCATCCTCCGATTCTGGTAC	0.572												
FAM22F	54754	broad.mit.edu	37	9	97082708	97082708	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:97082708T>C	uc004aup.1	-	5	1171	c.1150A>G	c.(1150-1152)ACC>GCC	p.T384A		NM_017561	NP_060031	A1L443	FA22F_HUMAN	hypothetical protein LOC54754	384	Pro-rich.										0		Acute lymphoblastic leukemia(62;0.136)				GGGACCTTGGTCTCCGCTGGC	0.677												
C9orf3	84909	broad.mit.edu	37	9	97563164	97563164	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:97563164C>T	uc004ava.2	+	4	1379	c.1244C>T	c.(1243-1245)ACC>ATC	p.T415I	C9orf3_uc004aux.1_Missense_Mutation_p.T415I|C9orf3_uc004auy.2_Missense_Mutation_p.T415I|C9orf3_uc004auz.1_Missense_Mutation_p.T415I	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	415					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGCCAAGAGACCCTTCTGCGG	0.582												
ZNF367	195828	broad.mit.edu	37	9	99160514	99160514	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:99160514C>T	uc004awf.2	-	2	858	c.503G>A	c.(502-504)CGT>CAT	p.R168H	ZNF367_uc004awg.2_Missense_Mutation_p.R168H	NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	168	C2H2-type 1.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0167)				GATGTTACAACGGATTCTGCT	0.433												
TDRD7	23424	broad.mit.edu	37	9	100245479	100245479	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:100245479G>A	uc004axj.2	+	15	2986	c.2761G>A	c.(2761-2763)GCC>ACC	p.A921T	TDRD7_uc011lux.1_Missense_Mutation_p.A847T|TDRD7_uc010msp.1_Missense_Mutation_p.A173T|TDRD7_uc011luy.1_Missense_Mutation_p.A241T	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	921	Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				TGTGCCTGTGGCCTGTCACCC	0.502												
C9orf156	51531	broad.mit.edu	37	9	100675785	100675785	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:100675785G>A	uc004axv.1	-	3	384	c.307C>T	c.(307-309)CCT>TCT	p.P103S	C9orf156_uc004axw.1_5'UTR|C9orf156_uc004axx.1_5'UTR|C9orf156_uc010msq.1_5'UTR	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Nef associated protein 1	103					interspecies interaction between organisms		hydrolase activity				0		Acute lymphoblastic leukemia(62;0.158)				AGCCTAGGAGGCTGCACTTTT	0.423												
COL15A1	1306	broad.mit.edu	37	9	101831994	101831994	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:101831994C>T	uc004azb.1	+	42	4199	c.3993C>T	c.(3991-3993)GGC>GGT	p.G1331G		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1331	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				GCCCCCATGGCGTCCGCCTTG	0.502												
TAL2	6887	broad.mit.edu	37	9	108424944	108424944	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:108424944A>G	uc004bct.2	+	1	207	c.167A>G	c.(166-168)AAG>AGG	p.K56R		NM_005421	NP_005412	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						TTCTTGGTCAAGGTCTTGGGG	0.557			T	TRB@	T-ALL							
RAD23B	5887	broad.mit.edu	37	9	110081129	110081129	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:110081129A>G	uc004bde.2	+	6	1017	c.650A>G	c.(649-651)AAC>AGC	p.N217S	RAD23B_uc011lwa.1_Missense_Mutation_p.N217S|RAD23B_uc011lwb.1_Missense_Mutation_p.N196S	NM_002874	NP_002865	P54727	RD23B_HUMAN	UV excision repair protein RAD23 homolog B	217	UBA 1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			ovary(1)	1						AGTTTCAACAACCCTGACAGA	0.378								Direct_reversal_of_damage|NER				
KLF4	9314	broad.mit.edu	37	9	110249387	110249387	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:110249387G>T	uc004bdh.2	-	3	1882	c.1261C>A	c.(1261-1263)CAC>AAC	p.H421N	KLF4_uc004bdf.1_Missense_Mutation_p.H346N|KLF4_uc004bdg.2_Missense_Mutation_p.H396N	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	430	C2H2-type 1.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(2)|lung(1)	3						TCACAAGTGTGGGTGGCGGTC	0.582												
C9orf5	23731	broad.mit.edu	37	9	111853321	111853321	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:111853321G>A	uc004bdt.3	-	5	1063	c.1031C>T	c.(1030-1032)ACG>ATG	p.T344M	C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.T344M	NM_032012	NP_114401	Q9H330	CI005_HUMAN	hypothetical protein LOC23731	344						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)		TCTAAGAAACGTTCCTATTTC	0.502												
KIAA0368	23392	broad.mit.edu	37	9	114176903	114176903	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:114176903G>A	uc004bfe.1	-	20	2327	c.2327C>T	c.(2326-2328)GCG>GTG	p.A776V	KIAA0368_uc010muc.1_Missense_Mutation_p.A598V	NM_001080398	NP_001073867			KIAA0368 protein												0						CGCACTGTGCGCAAGGCACAT	0.522												
ZNF618	114991	broad.mit.edu	37	9	116764290	116764290	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:116764290G>A	uc004bid.2	+	5	547	c.448G>A	c.(448-450)GGA>AGA	p.G150R	ZNF618_uc004bib.1_Missense_Mutation_p.G118R|ZNF618_uc004bic.2_Missense_Mutation_p.G118R|ZNF618_uc011lxi.1_Missense_Mutation_p.G118R|ZNF618_uc011lxj.1_Missense_Mutation_p.G118R	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	150	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTACGAATGCGGAATCTGTGG	0.582												
TNC	3371	broad.mit.edu	37	9	117852842	117852842	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:117852842T>C	uc004bjj.3	-	2	818	c.456A>G	c.(454-456)ACA>ACG	p.T152T	TNC_uc010mvf.2_Silent_p.T152T	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	152					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						AGCTCATACCTGTGGCAGGCT	0.507												
ASTN2	23245	broad.mit.edu	37	9	119568031	119568031	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:119568031C>T	uc004bjs.1	-	13	2377	c.2276G>A	c.(2275-2277)GGC>GAC	p.G759D	ASTN2_uc004bjr.1_Missense_Mutation_p.G755D|ASTN2_uc004bjt.1_Missense_Mutation_p.G708D	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	759	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GCACTTGGGGCCCTCGCAGAC	0.473												
ASTN2	23245	broad.mit.edu	37	9	120053790	120053790	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:120053790T>A	uc004bjs.1	-	2	546	c.445A>T	c.(445-447)ATG>TTG	p.M149L	ASTN2_uc004bjr.1_Missense_Mutation_p.M149L|ASTN2_uc004bjt.1_Missense_Mutation_p.M149L	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	149	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GTGCCAGACATCTCTGCAAGA	0.592												
CDK5RAP2	55755	broad.mit.edu	37	9	123210316	123210316	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:123210316A>G	uc004bkf.2	-	22	3063	c.2882T>C	c.(2881-2883)GTG>GCG	p.V961A	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.V11A|CDK5RAP2_uc004bke.2_Missense_Mutation_p.V246A|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.V961A|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.V226A|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.V226A|CDK5RAP2_uc011lya.1_Missense_Mutation_p.V226A|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.V731A|CDK5RAP2_uc004bki.2_Missense_Mutation_p.V728A	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	961	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CAGCTGCGTCACCACCTCCTG	0.483												
GSN	2934	broad.mit.edu	37	9	124079413	124079413	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:124079413A>G	uc004blf.1	+	7	1017	c.956A>G	c.(955-957)AAC>AGC	p.N319S	GSN_uc004bld.1_Missense_Mutation_p.N268S|GSN_uc010mvq.1_Missense_Mutation_p.N279S|GSN_uc010mvr.1_Missense_Mutation_p.N279S|GSN_uc010mvu.1_Missense_Mutation_p.N268S|GSN_uc010mvt.1_Missense_Mutation_p.N268S|GSN_uc010mvs.1_Missense_Mutation_p.N268S|GSN_uc004ble.1_Missense_Mutation_p.N268S|GSN_uc010mvv.1_Missense_Mutation_p.N268S|GSN_uc011lyh.1_Missense_Mutation_p.N285S|GSN_uc011lyi.1_Missense_Mutation_p.N268S|GSN_uc011lyj.1_Missense_Mutation_p.N292S|GSN_uc004blg.1_Missense_Mutation_p.N50S	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	319	Gelsolin-like 3.				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3						GCTGATGAGAACCCCTTCGCC	0.577												
HSPA5	3309	broad.mit.edu	37	9	128001585	128001585	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:128001585G>T	uc004bpn.2	-	5	887	c.631C>A	c.(631-633)CTG>ATG	p.L211M		NM_005347	NP_005338	P11021	GRP78_HUMAN	heat shock 70kDa protein 5	211					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			ovary(3)|skin(1)	4					Antihemophilic Factor(DB00025)	CTCTTATCCAGGCCATAAGCA	0.458										Prostate(1;0.17)		
ZBTB43	23099	broad.mit.edu	37	9	129595386	129595386	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:129595386T>C	uc004bql.2	+	3	871	c.598T>C	c.(598-600)TCC>CCC	p.S200P	ZBTB43_uc010mxf.2_Missense_Mutation_p.S200P	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAGCAACTCGTCCACAGAGCA	0.587												
RALGPS1	9649	broad.mit.edu	37	9	129931002	129931002	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:129931002G>A	uc004bqo.1	+	10	1060	c.793G>A	c.(793-795)GTA>ATA	p.V265I	RALGPS1_uc011mab.1_Missense_Mutation_p.V265I|RALGPS1_uc011mac.1_Missense_Mutation_p.V265I|RALGPS1_uc004bqq.3_Missense_Mutation_p.V265I	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	265	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1						CCTGAAGTCCGTACGCTACAT	0.522												
GARNL3	84253	broad.mit.edu	37	9	130097540	130097540	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:130097540T>C	uc011mae.1	+	10	1202	c.801T>C	c.(799-801)ACT>ACC	p.T267T	GARNL3_uc011mad.1_Silent_p.T245T|GARNL3_uc004bqt.1_Silent_p.T48T	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	267	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CAGTTTATACTGTGTACCAAG	0.378												
FAM129B	64855	broad.mit.edu	37	9	130279403	130279403	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:130279403C>T	uc004brh.2	-	7	1000	c.798G>A	c.(796-798)CGG>CGA	p.R266R	FAM129B_uc004bri.2_Silent_p.R253R|FAM129B_uc004brj.3_Silent_p.R266R	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	266							protein binding				0						GGATCCACTGCCGCTGCCGCT	0.687												
SH2D3C	10044	broad.mit.edu	37	9	130502625	130502625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:130502625C>T	uc004bsc.2	-	10	2254	c.2112G>A	c.(2110-2112)TGG>TGA	p.W704*	SH2D3C_uc010mxo.2_Nonsense_Mutation_p.W544*|SH2D3C_uc004bry.2_Nonsense_Mutation_p.W546*|SH2D3C_uc004brz.3_Nonsense_Mutation_p.W350*|SH2D3C_uc011mak.1_Nonsense_Mutation_p.W350*|SH2D3C_uc004bsa.2_Nonsense_Mutation_p.W547*|SH2D3C_uc004bsb.2_Nonsense_Mutation_p.W636*	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	704	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						GCAGGGTCACCCATGTCTGCT	0.597												
FPGS	2356	broad.mit.edu	37	9	130566958	130566958	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:130566958G>A	uc004bsg.1	+	4	415	c.365G>A	c.(364-366)GGC>GAC	p.G122D	FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Missense_Mutation_p.G122D|FPGS_uc004bsi.1_Missense_Mutation_p.G72D	NM_004957	NP_004948	Q05932	FOLC_HUMAN	folylpolyglutamate synthase isoform a precursor	122					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity				0					L-Glutamic Acid(DB00142)	CGAAGCTATGGCCTGAAGACG	0.552												
ST6GALNAC4	27090	broad.mit.edu	37	9	130674628	130674628	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:130674628G>T	uc004bss.2	-	4	806	c.530C>A	c.(529-531)CCC>CAC	p.P177H	ST6GALNAC4_uc004bst.2_Missense_Mutation_p.P93H	NM_175039	NP_778204	Q9H4F1	SIA7D_HUMAN	sialyltransferase 7D isoform a	177	Lumenal (Potential).				glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity				0						CTGCAGGCCGGGGTACATCCT	0.662												
LCN2	3934	broad.mit.edu	37	9	130913932	130913932	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:130913932C>A	uc004bto.1	+	3	364	c.291C>A	c.(289-291)GAC>GAA	p.D97E	LCN2_uc011map.1_Missense_Mutation_p.D97E	NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2 precursor	97					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0						AGAAGTGTGACTACTGGATCA	0.587												
ZDHHC12	84885	broad.mit.edu	37	9	131483604	131483604	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:131483604G>A	uc004bvy.2	-	5	696	c.660C>T	c.(658-660)ATC>ATT	p.I220I	ZDHHC12_uc004bvz.2_Silent_p.I275I	NM_032799	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC domain containing 12	220						integral to membrane	acyltransferase activity|zinc ion binding				0						GGAGATAGGCGATGCGGTGTG	0.642												
TBC1D13	54662	broad.mit.edu	37	9	131559379	131559379	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:131559379C>G	uc010myj.2	+	7	552	c.429C>G	c.(427-429)TAC>TAG	p.Y143*	TBC1D13_uc010myk.2_Nonsense_Mutation_p.Y143*|TBC1D13_uc010myl.2_5'UTR	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	143	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						CCACTGACTACCCTTGCCTCC	0.507												
C9orf50	375759	broad.mit.edu	37	9	132375722	132375722	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:132375722G>A	uc004byc.3	-	5	1237	c.1035C>T	c.(1033-1035)TGC>TGT	p.C345C	C9orf50_uc004byb.3_RNA	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	hypothetical protein LOC375759	345										ovary(1)|central_nervous_system(1)	2		Ovarian(14;0.00556)				ACAGGCCAGCGCAGTCCCAAC	0.657												
TOR1A	1861	broad.mit.edu	37	9	132576385	132576385	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:132576385C>A	uc004byl.2	-	5	942	c.865G>T	c.(865-867)GGC>TGC	p.G289C	TOR1A_uc004bym.2_RNA	NM_000113	NP_000104	O14656	TOR1A_HUMAN	torsin A precursor	289					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)	1		Ovarian(14;0.00556)				ATTTCATAGCCTCGGGACTGC	0.433												
USP20	10868	broad.mit.edu	37	9	132636012	132636012	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:132636012C>T	uc004bys.2	+	17	1940	c.1729C>T	c.(1729-1731)CGG>TGG	p.R577W	USP20_uc004byr.2_Missense_Mutation_p.R577W|USP20_uc004byt.1_Missense_Mutation_p.R577W	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	577					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				CAAAGTCCTGCGGTTGCCCGA	0.657												
NCS1	23413	broad.mit.edu	37	9	132988754	132988754	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:132988754C>T	uc004bzi.2	+	7	647	c.561C>T	c.(559-561)GAC>GAT	p.D187D	NCS1_uc010myz.1_Silent_p.D169D	NM_014286	NP_055101	P62166	NCS1_HUMAN	frequenin homolog isoform 1	187	Interaction with IL1RAPL1.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding				0						CCCTCTACGACGGGCTGGTAT	0.632												
NTNG2	84628	broad.mit.edu	37	9	135073834	135073834	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135073834A>G	uc004cbh.2	+	3	1471	c.695A>G	c.(694-696)AAC>AGC	p.N232S		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	232	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AACATGGACAACCTCTACACG	0.667												
NTNG2	84628	broad.mit.edu	37	9	135073887	135073887	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135073887A>G	uc004cbh.2	+	3	1524	c.748A>G	c.(748-750)ACC>GCC	p.T250A		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	250	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTTCACCCTCACCGACCTGCG	0.637												
SETX	23064	broad.mit.edu	37	9	135140338	135140338	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135140338G>A	uc004cbk.2	-	26	7505	c.7322C>T	c.(7321-7323)GCT>GTT	p.A2441V	SETX_uc004cbj.2_Missense_Mutation_p.A2089V|SETX_uc010mzt.2_Missense_Mutation_p.A2027V	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2441					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACGCTTCTGAGCATCCTGAAT	0.428												
TTF1	7270	broad.mit.edu	37	9	135278107	135278107	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135278107G>A	uc004cbl.2	-	2	154	c.102C>T	c.(100-102)CAC>CAT	p.H34H	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	34	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGAAAATTTCGTGGGAATGTT	0.378												
DDX31	64794	broad.mit.edu	37	9	135487486	135487486	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135487486G>T	uc004cbq.1	-	19	2449	c.2297C>A	c.(2296-2298)GCA>GAA	p.A766E	DDX31_uc010mzu.1_Missense_Mutation_p.A693E	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	766						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)		TTTCACGTGTGCTTTCCTCTT	0.532												
DDX31	64794	broad.mit.edu	37	9	135521418	135521418	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135521418C>T	uc004cbq.1	-	13	1711	c.1559G>A	c.(1558-1560)TGC>TAC	p.C520Y	DDX31_uc010mzu.1_Missense_Mutation_p.C520Y|DDX31_uc004cbr.1_Missense_Mutation_p.C520Y	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	520	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)		CACCAGCTCGCAACTTGAGAA	0.502												
DDX31	64794	broad.mit.edu	37	9	135522215	135522215	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135522215A>C	uc004cbq.1	-	12	1665	c.1513T>G	c.(1513-1515)TGC>GGC	p.C505G	DDX31_uc010mzu.1_Missense_Mutation_p.C505G|DDX31_uc004cbr.1_Missense_Mutation_p.C505G	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	505	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)		CCCACCTTGCATTTCTGAAGG	0.502												
SLC2A6	11182	broad.mit.edu	37	9	136339174	136339174	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:136339174G>A	uc004cee.2	-	7	1059	c.964C>T	c.(964-966)CGG>TGG	p.R322W	SLC2A6_uc004cef.2_Missense_Mutation_p.R322W|SLC2A6_uc004ceg.2_Missense_Mutation_p.R299W	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose	322	Helical; Name=8; (Potential).					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GACAGGAGCCGCACGGCCCCA	0.687												
CAMSAP1	157922	broad.mit.edu	37	9	138710921	138710921	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:138710921G>A	uc004cgr.3	-	12	3894	c.3894C>T	c.(3892-3894)GCC>GCT	p.A1298A	CAMSAP1_uc004cgq.3_Silent_p.A1188A|CAMSAP1_uc010nbg.2_Silent_p.A1020A	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	1298						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGGCCTCCTCGGCCTTGCGCT	0.642												
INPP5E	56623	broad.mit.edu	37	9	139329213	139329213	+	Silent	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:139329213G>T	uc004cho.2	-	2	1300	c.915C>A	c.(913-915)ACC>ACA	p.T305T	INPP5E_uc010nbm.2_Silent_p.T305T	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	305						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GCATGTTCCAGGTGGCCACGA	0.448												
FAM69B	138311	broad.mit.edu	37	9	139616653	139616653	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:139616653G>A	uc004cik.2	+	4	477	c.383G>A	c.(382-384)CGG>CAG	p.R128Q	FAM69B_uc004cil.2_Missense_Mutation_p.R41Q|SNHG7_uc004cim.2_RNA	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	128	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TCCAAGGCCCGGTCGGATGCG	0.627												
ABCA2	20	broad.mit.edu	37	9	139903482	139903482	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:139903482G>A	uc011mem.1	-	45	6996	c.6848C>T	c.(6847-6849)ACG>ATG	p.T2283M	ABCA2_uc011mel.1_Missense_Mutation_p.T2284M|ABCA2_uc004ckl.1_Missense_Mutation_p.T2214M|ABCA2_uc004ckm.1_Missense_Mutation_p.T2314M	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	2283	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGTCCGCACCGTGATCATGTA	0.577												
ABCA2	20	broad.mit.edu	37	9	139912071	139912071	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:139912071G>A	uc011mem.1	-	16	2430	c.2282C>T	c.(2281-2283)TCC>TTC	p.S761F	ABCA2_uc011mel.1_Missense_Mutation_p.S762F|ABCA2_uc004ckl.1_Missense_Mutation_p.S692F|ABCA2_uc004ckm.1_Missense_Mutation_p.S792F|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	761	Helical; (Potential).				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CACGGAGATGGACAGCTGCAC	0.617												
GRIN1	2902	broad.mit.edu	37	9	140059732	140059732	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:140059732G>T	uc004clk.2	+	19	3014	c.2684G>T	c.(2683-2685)AGG>ATG	p.R895M	GRIN1_uc004cli.1_3'UTR|GRIN1_uc004clj.1_3'UTR|GRIN1_uc004cll.2_Intron|GRIN1_uc004clm.2_Intron|GRIN1_uc004cln.2_Missense_Mutation_p.R913M|GRIN1_uc004clo.2_Intron	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	895	Cytoplasmic (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AAGAGGCGTAGGTCCTCCAAA	0.597												
NELF	26012	broad.mit.edu	37	9	140352310	140352310	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:140352310G>A	uc004cna.2	-	3	409	c.177C>T	c.(175-177)CCC>CCT	p.P59P	C9orf167_uc011mew.1_Intron|NELF_uc010nci.2_5'Flank|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Silent_p.P59P|NELF_uc004cmz.2_Silent_p.P59P|NELF_uc004cnc.2_Silent_p.P59P|NELF_uc004cnb.2_Silent_p.P59P	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	59						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		GCTGCATCTCGGGGGACCCGT	0.672												
ZMYND19	116225	broad.mit.edu	37	9	140477029	140477029	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:140477029C>T	uc004cno.1	-	6	872	c.650G>A	c.(649-651)CGT>CAT	p.R217H		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	zinc finger, MYND domain containing 19	217						Golgi apparatus|plasma membrane	zinc ion binding			skin(1)	1	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CTGGAAGGGACGCTTCCTCTC	0.637												
ASMTL	8623	broad.mit.edu	37	X	1546685	1546685	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:1546685G>A	uc004cpx.1	-	7	950	c.839C>T	c.(838-840)ACC>ATC	p.T280I	ASMTL_uc011mhe.1_Missense_Mutation_p.T204I|ASMTL_uc004cpy.1_Missense_Mutation_p.T264I|ASMTL_uc011mhf.1_Missense_Mutation_p.T222I	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	280	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)				CGGAGGCAGGGTCTCCCGAGT	0.537												
SFRS17A	8227	broad.mit.edu	37	X	1720111	1720111	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:1720111A>G	uc004cqa.2	+	5	1908	c.1712A>G	c.(1711-1713)GAC>GGC	p.D571G	SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	571					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCAGAAAGGACACCCGGTCA	0.657												
ZBED1	9189	broad.mit.edu	37	X	2406791	2406791	+	Missense_Mutation	SNP	G	G	A	rs142634106		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:2406791G>A	uc004cqg.2	-	2	2171	c.1970C>T	c.(1969-1971)GCG>GTG	p.A657V	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.A657V	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	657						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCGGGTTCCGCCTCTGCCCC	0.662												
TBL1X	6907	broad.mit.edu	37	X	9679787	9679787	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:9679787G>A	uc010ndq.2	+	16	1944	c.1576G>A	c.(1576-1578)GAC>AAC	p.D526N	TBL1X_uc004csq.3_Missense_Mutation_p.D475N|TBL1X_uc010ndr.2_Missense_Mutation_p.D475N|TBL1X_uc004csr.2_Missense_Mutation_p.D526N|TBL1X_uc004css.2_Missense_Mutation_p.D477N	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	526	WD 7.				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)				TGGATCCTTCGACAAGTGCGT	0.532												
WWC3	55841	broad.mit.edu	37	X	10090659	10090659	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:10090659C>A	uc004csx.3	+	12	1829	c.1631C>A	c.(1630-1632)ACA>AAA	p.T544K	WWC3_uc010nds.2_Missense_Mutation_p.T208K|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	544										ovary(4)	4						TTACTTACAGCAGTGACTCTT	0.567												
MOSPD2	158747	broad.mit.edu	37	X	14927024	14927024	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:14927024T>A	uc004cwi.2	+	8	708	c.620T>A	c.(619-621)GTG>GAG	p.V207E	MOSPD2_uc004cwj.2_Missense_Mutation_p.V144E	NM_152581	NP_689794	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	207	CRAL-TRIO.					integral to membrane	structural molecule activity			lung(1)	1	Hepatocellular(33;0.183)					CCAGAAGCAGTGAGCTTGTTG	0.388												
MAGEB6	158809	broad.mit.edu	37	X	26212500	26212500	+	Silent	SNP	C	C	T	rs148547775	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:26212500C>T	uc004dbr.2	+	2	686	c.537C>T	c.(535-537)AGC>AGT	p.S179S	MAGEB6_uc010ngc.1_5'UTR	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	179										ovary(3)	3						AAAGTGTAAGCGCCTCACAGA	0.493												
DCAF8L1	139425	broad.mit.edu	37	X	27998107	27998107	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:27998107G>A	uc004dbx.1	-	1	1460	c.1345C>T	c.(1345-1347)CGG>TGG	p.R449W		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	449	WD 6.									ovary(3)|skin(1)	4						AACTCACTCCGGGGGCCATAG	0.468												
IL1RAPL1	11141	broad.mit.edu	37	X	29973751	29973751	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:29973751C>T	uc004dby.2	+	11	2413	c.1905C>T	c.(1903-1905)ACC>ACT	p.T635T		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	635	Cytoplasmic (Potential).|Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						TACCTCCTACCGGCACCCTGC	0.512												
GPR34	2857	broad.mit.edu	37	X	41554898	41554898	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:41554898T>C	uc004dfp.3	+	3	296	c.12T>C	c.(10-12)CAT>CAC	p.H4H	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Silent_p.H4H|GPR34_uc010nhg.2_Silent_p.H4H|GPR34_uc004dfr.3_Silent_p.H4H	NM_001097579	NP_001091048	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	4	Extracellular (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						TGAGAAGTCATACCATAACAA	0.413												
SLC9A7	84679	broad.mit.edu	37	X	46521972	46521972	+	Splice_Site	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:46521972C>T	uc004dgu.1	-	6	907	c.899_splice	c.e6+1	p.S300_splice	SLC9A7_uc004dgv.1_Splice_Site_p.S300_splice	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7						regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2						CTGCTACTTACGAGGACAGTA	0.418												
UBA1	7317	broad.mit.edu	37	X	47062550	47062550	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:47062550C>T	uc004dhj.3	+	13	1507	c.1356C>T	c.(1354-1356)GAC>GAT	p.D452D	UBA1_uc004dhk.3_Silent_p.D452D|INE1_uc004dhl.2_5'Flank	NM_153280	NP_695012	P22314	UBA1_HUMAN	ubiquitin-activating enzyme E1	452	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			ovary(1)	1						ACCGTTATGACGGGCAAGTGG	0.557												
ARAF	369	broad.mit.edu	37	X	47426715	47426715	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:47426715G>A	uc011mlq.1	+	10	1093	c.960G>A	c.(958-960)TCG>TCA	p.S320S	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Silent_p.S186S|ARAF_uc011mlp.1_Silent_p.S320S|ARAF_uc004dic.1_Silent_p.S101S	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	320	ATP (By similarity).|Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	GGACGGGCTCGTTTGGCACCG	0.612												
SSX1	6756	broad.mit.edu	37	X	48123236	48123236	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:48123236C>T	uc004djb.1	+	6	441	c.350C>T	c.(349-351)GCA>GTA	p.A117V		NM_005635	NP_005626	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)	soft_tissue(1169)	1169						AAGAAGCCAGCAGAGGACGAA	0.348												
GPKOW	27238	broad.mit.edu	37	X	48979945	48979945	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:48979945G>T	uc004dmr.2	-	1	135	c.128C>A	c.(127-129)CCG>CAG	p.P43Q		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	43						nucleus	nucleic acid binding			ovary(2)	2						CTTCTCCTCCGGAGATGGCCC	0.642												
MAGED1	9500	broad.mit.edu	37	X	51639617	51639617	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:51639617G>A	uc004dpm.2	+	4	961	c.866G>A	c.(865-867)GGC>GAC	p.G289D	MAGED1_uc004dpn.2_Missense_Mutation_p.G345D|MAGED1_uc004dpo.2_Missense_Mutation_p.G289D	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	289	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					AACCCACCTGGCGCACCCCCC	0.622										Multiple Myeloma(10;0.10)		
HUWE1	10075	broad.mit.edu	37	X	53575080	53575080	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:53575080T>C	uc004dsp.2	-	68	10592	c.10190A>G	c.(10189-10191)AAC>AGC	p.N3397S	HUWE1_uc004dsn.2_Missense_Mutation_p.N2205S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3397					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						GACATTCATGTTGTCCAGTTT	0.552												
TRO	7216	broad.mit.edu	37	X	54957418	54957418	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:54957418G>A	uc004dtq.2	+	12	4368	c.4261G>A	c.(4261-4263)GCC>ACC	p.A1421T	TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.A952T|TRO_uc004dtw.2_Missense_Mutation_p.A1024T|TRO_uc004dtx.2_Missense_Mutation_p.A804T	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	1421	62; approximate.|62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						CAGTGGAGCCGCCAGTCTTGG	0.592												
APEX2	27301	broad.mit.edu	37	X	55028042	55028042	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:55028042G>A	uc004dtz.2	+	2	297	c.221G>A	c.(220-222)CGC>CAC	p.R74H	APEX2_uc011mom.1_5'UTR	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	apurinic/apyrimidinic endonuclease 2	74					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)	1						AGCTTCAGCCGCAACCGTAGC	0.448								Other_BER_factors				
ZXDA	7789	broad.mit.edu	37	X	57935808	57935808	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:57935808C>T	uc004dve.2	-	1	1260	c.1047G>A	c.(1045-1047)GCG>GCA	p.A349A		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	349	C2H2-type 3.|Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						CCTTCATGTGCGCCTTGAGGT	0.617												
HEPH	9843	broad.mit.edu	37	X	65412069	65412069	+	Silent	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:65412069T>C	uc011moz.1	+	7	1230	c.1170T>C	c.(1168-1170)CAT>CAC	p.H390H	HEPH_uc004dwn.2_Silent_p.H390H|HEPH_uc004dwo.2_Silent_p.H120H|HEPH_uc010nkr.2_Silent_p.H390H|HEPH_uc011mpa.1_Silent_p.H390H	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	387	Extracellular (Potential).|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9						TTGAGGCCCATGAGATTCAAT	0.532												
PJA1	64219	broad.mit.edu	37	X	68382235	68382235	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:68382235T>C	uc004dxh.2	-	2	1133	c.847A>G	c.(847-849)ATG>GTG	p.M283V	PJA1_uc011mpi.1_Missense_Mutation_p.M1V|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Missense_Mutation_p.M228V	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	283							zinc ion binding				0						CTGTGTGGCATATCGTCATCA	0.498												
FAM155B	27112	broad.mit.edu	37	X	68725856	68725856	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:68725856G>A	uc004dxk.2	+	1	779	c.731G>A	c.(730-732)AGC>AAC	p.S244N		NM_015686	NP_056501	O75949	F155B_HUMAN	transmembrane protein 28	244						integral to membrane				ovary(1)|breast(1)	2						GAGGCGTGTAGCAACTGTATC	0.622												
NHSL2	340527	broad.mit.edu	37	X	71359622	71359622	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:71359622G>A	uc011mqa.1	+	6	2224	c.2224G>A	c.(2224-2226)GTC>ATC	p.V742I	NHSL2_uc004eak.1_Missense_Mutation_p.V376I|NHSL2_uc010nli.2_Missense_Mutation_p.V511I	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN	NHS-like 2	742											0	Renal(35;0.156)					AAGCAGCAGTGTCCGGGTACG	0.557												
CITED1	4435	broad.mit.edu	37	X	71522039	71522039	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:71522039C>T	uc011mqd.1	-	3	271	c.116G>A	c.(115-117)CGC>CAC	p.R39H	CITED1_uc011mqc.1_Missense_Mutation_p.R65H|CITED1_uc004eas.2_Missense_Mutation_p.R39H|CITED1_uc004eat.2_Missense_Mutation_p.R39H	NM_001144887	NP_001138359	Q99966	CITE1_HUMAN	melanocyte-specific gene 1 isoform 1	39					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding				0	Renal(35;0.156)					CACTGCTTTGCGATCTTTCAC	0.547												
ATRX	546	broad.mit.edu	37	X	76938181	76938181	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:76938181C>T	uc004ecp.3	-	9	2799	c.2567G>A	c.(2566-2568)AGC>AAC	p.S856N	ATRX_uc004ecq.3_Missense_Mutation_p.S818N|ATRX_uc004eco.3_Missense_Mutation_p.S641N|ATRX_uc004ecr.2_Missense_Mutation_p.S788N|ATRX_uc010nlx.1_Missense_Mutation_p.S827N|ATRX_uc010nly.1_Missense_Mutation_p.S801N	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	856					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TCCTTTTTTGCTGTGTTTCTC	0.299			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome					
P2RY10	27334	broad.mit.edu	37	X	78216846	78216846	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:78216846T>C	uc004ede.2	+	4	1198	c.829T>C	c.(829-831)TGT>CGT	p.C277R	P2RY10_uc004edf.2_Missense_Mutation_p.C277R	NM_014499	NP_055314	O00398	P2Y10_HUMAN	G-protein coupled purinergic receptor P2Y10	277	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(2)|breast(1)	5						CATTAGCAGTTGTCCCGTTGT	0.418												
CHM	1121	broad.mit.edu	37	X	85213976	85213976	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:85213976A>G	uc004eet.2	-	6	739	c.709T>C	c.(709-711)TAT>CAT	p.Y237H	CHM_uc011mqz.1_Missense_Mutation_p.Y89H	NM_000390	NP_000381	P24386	RAE1_HUMAN	choroideremia isoform a	237					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(1)	1		all_lung(315;5.41e-06)				CCTCGAGAATACAGCAGCTGT	0.269												
HNRNPH2	3188	broad.mit.edu	37	X	100667961	100667961	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:100667961G>A	uc004ehm.2	+	2	1155	c.985G>A	c.(985-987)GGT>AGT	p.G329S	HNRNPH2_uc004ehn.2_Missense_Mutation_p.G329S	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	329	RRM 3.|2 X 16 AA Gly-rich approximate repeats.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						CAGAGTTACCGGTGAGGCAGA	0.403												
ARMCX2	9823	broad.mit.edu	37	X	100911457	100911457	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:100911457C>T	uc004eid.2	-	3	1473	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	ARMCX2_uc004eie.3_Missense_Mutation_p.R373H|ARMCX2_uc004eif.3_Missense_Mutation_p.R373H|ARMCX2_uc004eig.3_Missense_Mutation_p.R373H|ARMCX2_uc010nnt.2_Missense_Mutation_p.R373H	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein	373						integral to membrane	binding			ovary(6)	6						AGGAAAGGGGCGCTTCTGCAT	0.537												
ARMCX2	9823	broad.mit.edu	37	X	100912607	100912607	+	Translation_Start_Site	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:100912607G>A	uc004eid.2	-	3	323	c.-32C>T	c.(-34--30)CACGC>CATGC		ARMCX2_uc004eie.3_Translation_Start_Site|ARMCX2_uc004eif.3_Translation_Start_Site|ARMCX2_uc004eig.3_Translation_Start_Site|ARMCX2_uc010nnt.2_Translation_Start_Site	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	ALEX2 protein							integral to membrane	binding			ovary(6)	6						GATCCAGGGCGTGGAACTGGA	0.582												
TCEAL3	85012	broad.mit.edu	37	X	102864035	102864035	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:102864035G>A	uc004ekq.2	+	3	305	c.43G>A	c.(43-45)GAG>AAG	p.E15K	TCEAL3_uc004ekr.2_Missense_Mutation_p.E15K	NM_001006933	NP_001006934	Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	15	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						CCTGGAAAACgagggaaagcc	0.234												
PRPS1	5631	broad.mit.edu	37	X	106888571	106888571	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:106888571C>T	uc004ene.3	+	5	900	c.695C>T	c.(694-696)GCA>GTA	p.A232V	PRPS1_uc010npg.2_Missense_Mutation_p.A199V|PRPS1_uc011msj.1_Missense_Mutation_p.A28V	NM_002764	NP_002755	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	232					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|large_intestine(1)	4						ATCTGCCATGCAGCTGACAAG	0.502												
COL4A5	1287	broad.mit.edu	37	X	107783022	107783022	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:107783022T>C	uc004enz.1	+	2	330	c.128T>C	c.(127-129)ATA>ACA	p.I43T	COL4A5_uc011mso.1_Missense_Mutation_p.I43T	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	43	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						TGCAGTGGCATAAAAGGGGAA	0.338									Alport_syndrome_with_Diffuse_Leiomyomatosis			
COL4A5	1287	broad.mit.edu	37	X	107834414	107834414	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:107834414C>T	uc004enz.1	+	20	1494	c.1292C>T	c.(1291-1293)CCT>CTT	p.P431L	COL4A5_uc011mso.1_Missense_Mutation_p.P431L|COL4A5_uc004eob.1_Missense_Mutation_p.P39L	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	431	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						CCTGGGGCTCCTGGGCTTCCA	0.493									Alport_syndrome_with_Diffuse_Leiomyomatosis			
LUZP4	51213	broad.mit.edu	37	X	114524366	114524366	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:114524366C>T	uc004eqa.2	+	1	75	c.41C>T	c.(40-42)CCG>CTG	p.P14L	LUZP4_uc004eqb.2_5'UTR	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	14						nucleus				ovary(2)	2						GAAAAAGTGCCGCCAAATCAT	0.522												
FAM70A	55026	broad.mit.edu	37	X	119394878	119394878	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:119394878G>A	uc004eso.3	-	10	1124	c.897C>T	c.(895-897)TCC>TCT	p.S299S	FAM70A_uc004esp.3_Silent_p.S275S|FAM70A_uc010nqo.2_Silent_p.S191S	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	hypothetical protein LOC55026 isoform 1	299	Pro-rich.					integral to membrane				lung(1)|breast(1)	2						GAAAGACACCGGAATGCTGTG	0.473												
ODZ1	10178	broad.mit.edu	37	X	123839039	123839039	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:123839039T>C	uc004euj.2	-	5	903	c.839A>G	c.(838-840)TAC>TGC	p.Y280C	ODZ1_uc011muj.1_Missense_Mutation_p.Y280C|ODZ1_uc010nqy.2_Missense_Mutation_p.Y280C	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	280	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TGTCAGAGGGTAGTTCTGACT	0.493												
DCAF12L2	340578	broad.mit.edu	37	X	125298773	125298773	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:125298773C>T	uc004euk.1	-	1	1162	c.1135G>A	c.(1135-1137)GCC>ACC	p.A379T		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	379	WD 4.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						AACTTCTGGGCGCGGATGTCA	0.637												
DCAF12L2	340578	broad.mit.edu	37	X	125299138	125299138	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:125299138C>T	uc004euk.1	-	1	797	c.770G>A	c.(769-771)AGC>AAC	p.S257N		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	257										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GGGGTTGGTGCTGGCCCTGGG	0.617												
ELF4	2000	broad.mit.edu	37	X	129205114	129205114	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:129205114C>T	uc004evd.3	-	7	1095	c.710G>A	c.(709-711)GGC>GAC	p.G237D	ELF4_uc004eve.3_Missense_Mutation_p.G237D	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	237	ETS.				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTTGAAGATGCCTTTCTCTCG	0.522			T	ERG	AML							
IGSF1	3547	broad.mit.edu	37	X	130411032	130411032	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:130411032C>T	uc004ewd.2	-	14	2727	c.2489G>A	c.(2488-2490)AGT>AAT	p.S830N	IGSF1_uc004ewe.3_Missense_Mutation_p.S824N|IGSF1_uc004ewf.2_Missense_Mutation_p.S810N	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	830	Extracellular (Potential).|Ig-like C2-type 8.				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						GTGAGCTGCACTGGCCCCCGG	0.493												
IGSF1	3547	broad.mit.edu	37	X	130411957	130411957	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:130411957T>G	uc004ewd.2	-	13	2431	c.2193A>C	c.(2191-2193)AGA>AGC	p.R731S	IGSF1_uc004ewe.3_Missense_Mutation_p.R725S|IGSF1_uc004ewf.2_Missense_Mutation_p.R711S	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	731	Extracellular (Potential).|Ig-like C2-type 7.				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						AGAAGGCTTCTCTTCCAACAG	0.507												
PHF6	84295	broad.mit.edu	37	X	133547614	133547614	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:133547614A>T	uc004exj.2	+	6	714	c.512A>T	c.(511-513)AAT>ATT	p.N171I	PHF6_uc004exk.2_Missense_Mutation_p.N171I|PHF6_uc011mvk.1_Missense_Mutation_p.N137I|PHF6_uc004exh.2_Missense_Mutation_p.N172I|PHF6_uc010nrr.2_Missense_Mutation_p.N171I|PHF6_uc004exi.2_Missense_Mutation_p.N172I	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN	PHD finger protein 6 isoform 1	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					AGAAAAACTAATTTTAAAGGG	0.368												
SAGE1	55511	broad.mit.edu	37	X	134983781	134983781	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:134983781A>G	uc004ezh.2	+	3	318	c.151A>G	c.(151-153)AGA>GGA	p.R51G	SAGE1_uc010nry.1_Missense_Mutation_p.R51G|SAGE1_uc011mvv.1_Missense_Mutation_p.R51G	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	51										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GAAACATTCCAGAAAATCCAA	0.408												
SLC9A6	10479	broad.mit.edu	37	X	135080303	135080303	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:135080303C>T	uc004ezj.2	+	3	542	c.466C>T	c.(466-468)CTT>TTT	p.L156F	SLC9A6_uc004ezk.2_Missense_Mutation_p.L188F|SLC9A6_uc011mvx.1_Missense_Mutation_p.L136F	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	156	Helical; (Potential).				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					CAACATATTACTTCCTCCTAT	0.303												
MAP7D3	79649	broad.mit.edu	37	X	135313015	135313015	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:135313015C>T	uc004ezt.2	-	9	1615	c.1524G>A	c.(1522-1524)CCG>CCA	p.P508P	MAP7D3_uc004ezs.2_Silent_p.P472P|MAP7D3_uc011mwc.1_Silent_p.P490P|MAP7D3_uc010nsa.1_Silent_p.P466P	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	508						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TGATGGGAGACGGCAGACCAC	0.403												
GPR112	139378	broad.mit.edu	37	X	135429585	135429585	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:135429585C>A	uc004ezu.1	+	6	4011	c.3720C>A	c.(3718-3720)CAC>CAA	p.H1240Q	GPR112_uc010nsb.1_Missense_Mutation_p.H1035Q|GPR112_uc010nsc.1_Missense_Mutation_p.H1007Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1240	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ATCGTGTACACACACCAGTGT	0.463												
AFF2	2334	broad.mit.edu	37	X	147744112	147744112	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:147744112C>T	uc004fcp.2	+	3	1343	c.864C>T	c.(862-864)TAC>TAT	p.Y288Y	AFF2_uc004fco.2_Silent_p.Y284Y|AFF2_uc004fcq.2_Silent_p.Y284Y|AFF2_uc004fcr.2_Silent_p.Y284Y|AFF2_uc011mxb.1_Silent_p.Y288Y|AFF2_uc004fcs.2_Silent_p.Y284Y	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	288					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CAACTGCATACGTCAGACCCA	0.478												
GABRQ	55879	broad.mit.edu	37	X	151821168	151821168	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:151821168G>T	uc004ffp.1	+	9	1343	c.1323G>T	c.(1321-1323)CAG>CAT	p.Q441H		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	441						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCAGGCCAGGCCCCCCTGG	0.622												
MAGEA3	4102	broad.mit.edu	37	X	151935274	151935274	+	Missense_Mutation	SNP	T	T	C	rs35987457	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:151935274T>C	uc004fgp.2	-	3	1102	c.893A>G	c.(892-894)CAC>CGC	p.H298R		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	298	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GTAGGAAATGTGAGGTCCTCC	0.552												
ATP2B3	492	broad.mit.edu	37	X	152821867	152821867	+	Silent	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:152821867C>T	uc004fht.1	+	13	2443	c.2317C>T	c.(2317-2319)CTG>TTG	p.L773L	ATP2B3_uc004fhs.1_Silent_p.L773L	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	773	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAAGCACACACTGGTCAAAGG	0.627												
ATP2B3	492	broad.mit.edu	37	X	152825264	152825264	+	Silent	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:152825264G>A	uc004fht.1	+	16	2829	c.2703G>A	c.(2701-2703)ACG>ACA	p.T901T	ATP2B3_uc004fhs.1_Silent_p.T901T|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	901	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGGCGACGGAGCCACCCA	0.597												
SSR4	6748	broad.mit.edu	37	X	153063257	153063257	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:153063257C>G	uc004fiw.2	+	4	388	c.339C>G	c.(337-339)AGC>AGG	p.S113R	SSR4_uc004fiv.2_Missense_Mutation_p.S124R	NM_006280	NP_006271	P51571	SSRD_HUMAN	signal sequence receptor, delta precursor	113	Lumenal (Potential).				intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding				0	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTCCTACAGCCTCCTCAGGA	0.612												
HCFC1	3054	broad.mit.edu	37	X	153221775	153221775	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:153221775G>A	uc004fjp.2	-	16	3251	c.2723C>T	c.(2722-2724)ACG>ATG	p.T908M		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	908	Interaction with GABP2.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	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)					GGTGATGGGCGTGGCCAGGGA	0.642												
HCFC1	3054	broad.mit.edu	37	X	153228738	153228738	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:153228738T>C	uc004fjp.2	-	4	1178	c.650A>G	c.(649-651)AAG>AGG	p.K217R		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	217	Kelch 4.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	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)					GATCACCAGCTTGGACTTCTT	0.577												
MECP2	4204	broad.mit.edu	37	X	153295823	153295823	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:153295823T>G	uc004fjv.2	-	4	1682	c.1456A>C	c.(1456-1458)AGC>CGC	p.S486R	MECP2_uc004fjw.2_Missense_Mutation_p.S498R	NM_004992	NP_004983	P51608	MECP2_HUMAN	methyl CpG binding protein 2 isoform 1	486					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAAAGTCAGCTAACTCTCTCG	0.537												
FLNA	2316	broad.mit.edu	37	X	153592413	153592413	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:153592413T>C	uc004fkk.2	-	15	2506	c.2257A>G	c.(2257-2259)AGC>GGC	p.S753G	FLNA_uc010nuu.1_Missense_Mutation_p.S753G	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	753	Filamin 5.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	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)					TTGGGGATGCTGACGCCTCCC	0.577												
FLNA	2316	broad.mit.edu	37	X	153596065	153596065	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:153596065C>T	uc004fkk.2	-	4	913	c.664G>A	c.(664-666)GTT>ATT	p.V222I	FLNA_uc010nuu.1_Missense_Mutation_p.V222I	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	222	CH 2.|Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	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)					GCATTGGTAACGGGCTTGCTG	0.677												
SRY	6736	broad.mit.edu	37	Y	2655595	2655595	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrY:2655595T>C	uc004fqg.1	-	1	198	c.50A>G	c.(49-51)TAC>TGC	p.Y17C		NM_003140	NP_003131	Q05066	SRY_HUMAN	sex determining region Y	17					cell differentiation|male sex determination|positive regulation of transcription, DNA-dependent|sex differentiation	cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0						AGCTGGACTGTAATCATCGCT	0.433									Swyer_syndrome			
USP9Y	8287	broad.mit.edu	37	Y	14837085	14837085	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrY:14837085G>A	uc004fst.1	+	6	1310	c.365G>A	c.(364-366)CGA>CAA	p.R122Q	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	122					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0						CGTTTTTTTCGAGATGGACTA	0.338												
ITGA2B	3674	broad.mit.edu	37	17	42453086	42453087	+	Splice_Site	INS	-	-	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:42453086_42453087insG	uc002igt.1	-	26	2634	c.2602_splice	c.e26-1	p.V868_splice	ITGA2B_uc002igu.1_Intron	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein						axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCAGTCCACCTGGGGGGGCAAA	0.688												
USP33	23032	broad.mit.edu	37	1	78178969	78178969	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:78178968_78178968TA>T	uc001dht.3	-	21	2656	c.2309_splice	c.e21-1	p.G770_splice	USP33_uc001dhs.3_Splice_Site_p.G491_splice|USP33_uc001dhu.3_Splice_Site_p.G739_splice|USP33_uc001dhv.3_Splice_Site_p.G575_splice|USP33_uc001dhw.3_Splice_Site_p.G762_splice	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	770	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GAGGAACACCTAAAAAAATAT	0.289												
PIK3C2B	5287	broad.mit.edu	37	1	204416709	204416709	+	Splice_Site	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:204416708_204416708TG>T	uc001haw.3	-	16	2826	c.2347_splice	c.e16-1	p.I783_splice	PIK3C2B_uc010pqv.2_Splice_Site_p.I783_splice	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	783					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAAGTCAATCTGGGGGATGAG	0.577												
HEATR1	55127	broad.mit.edu	37	1	236767430	236767430	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:236767429_236767429TA>T	uc001hyd.2	-	2	121	c.-31_splice	c.e2-1		HEATR1_uc001hye.2_Splice_Site	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGACACGGGCTAAAAAAACGT	0.473												
SCLT1	132320	broad.mit.edu	37	4	129964625	129964625	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:129964624_129964624TA>T	uc003igp.2	-	4	668	c.162_splice	c.e4-1	p.S54_splice	SCLT1_uc003igq.2_Splice_Site_p.S54_splice|SCLT1_uc010iob.1_Splice_Site_p.S54_splice|SCLT1_uc003igr.2_Splice_Site_p.S54_splice|SCLT1_uc003igt.4_Splice_Site_p.S54_splice	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	54						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GCTAAAAAGCTAAAAAAAGAC	0.269												
ITGA2	3673	broad.mit.edu	37	5	52351982	52351982	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:52351981_52351981TA>T	uc003joy.3	+	9	1239	c.1096_splice	c.e9+2	p.G366_splice	ITGA2_uc011cqa.2_Splice_Site|ITGA2_uc011cqb.2_Splice_Site|ITGA2_uc011cqc.2_Splice_Site_p.G290_splice|ITGA2_uc011cqd.2_Splice_Site|ITGA2_uc011cqe.2_Splice_Site	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	366					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCATTGAAGGTAAAAAAAATA	0.294												
SBDS	51119	broad.mit.edu	37	7	66458407	66458407	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:66458406_66458406TA>T	uc003tvm.1	-	3	443	c.259_splice	c.e3-1	p.I87_splice		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Homo sapiens Shwachman-Bodian-Diamond syndrome (SBDS), mRNA.	87			I -> S (in SDS).		bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|rRNA processing|ribosomal large subunit biogenesis	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|rRNA binding|ribosome binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						AGTCAAAATCTAAAAAAATGC	0.323			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome			
NAPEPLD	222236	broad.mit.edu	37	7	102769242	102769242	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:102769241_102769241TA>T	uc011klj.1	-	2	283	c.204_splice	c.e2-1	p.S68_splice	NAPEPLD_uc003vbd.2_Splice_Site|NAPEPLD_uc003vbc.2_Splice_Site|NAPEPLD_uc003vbe.2_Splice_Site|NAPEPLD_uc003vbf.3_Intron	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	0					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTGAAGAACTAAAAAAAACA	0.338												
NUP205	23165	broad.mit.edu	37	7	135258404	135258404	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:135258403_135258403CA>C	uc003vsw.3	+	3	203	c.172_splice	c.e3-1	p.P58_splice	NUP205_uc011kqa.1_Splice_Site	NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	58					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCATTGTAGCCAAAAAATGTT	0.413												
MLL3	58508	broad.mit.edu	37	7	151836879	151836879	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma							
GRINA	2907	broad.mit.edu	37	8	145065770	145065771	+	Splice_Site	DEL	TG	TG	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145065769_145065770CTG>C	uc003zan.1	+	2	545	c.379_splice	c.e2+1	p.S127_splice	GRINA_uc003zao.1_Splice_Site_p.S127_splice|GRINA_uc003zap.1_Splice_Site_p.S127_splice	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	127	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGACCCTGACTGTGAGTCTCA	0.663												
C9orf11	54586	broad.mit.edu	37	9	27296739	27296739	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:27296738_27296738TA>T	uc003zql.3	-	2	161	c.77_splice	c.e2-1	p.A26_splice	C9orf11_uc011lnq.2_Splice_Site_p.A26_splice|C9orf11_uc003zqm.3_Splice_Site_p.A26_splice	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Homo sapiens chromosome 9 open reading frame 11 (C9orf11), transcript variant 1, mRNA.	26						acrosomal membrane|integral to membrane				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	17				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		TAGGCAATGCTAAAAAAAAGT	0.323												
FANCC	2176	broad.mit.edu	37	9	97934320	97934320	+	Splice_Site	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:97934319_97934319AT>A	uc022bkl.1	-	5	660	c.456_splice	c.e5+1	p.N152_splice	FANCC_uc004avh.3_Splice_Site_p.N152_splice|FANCC_uc004avi.4_Splice_Site_p.N152_splice|FANCC_uc010mrm.1_Splice_Site|FANCC_uc011lul.1_Splice_Site	NM_001243743	NP_001230672	Q00597	FANCC_HUMAN	Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA.	152					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				AAATACTCACATTTTTAAGCA	0.333			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
ERCC6	2074	broad.mit.edu	37	10	50679169	50679169	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:50679168_50679168TA>T	uc001jhs.4	-	17	3079	c.2925_splice	c.e17-1	p.R975_splice	ERCC6_uc009xod.3_Splice_Site_p.R135_splice|ERCC6_uc010qgr.2_Splice_Site_p.R345_splice|ERCC6_uc001jhr.4_Splice_Site_p.R343_splice	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	975	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGATTTGTCTAAAAAAATAA	0.323								Direct reversal of damage;Nucleotide excision repair (NER)				
NAP1L4	4676	broad.mit.edu	37	11	2991167	2991167	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:2991166_2991166TA>T	uc010qxm.2	-	8	687	c.403_splice	c.e8-1	p.G135_splice	NAP1L4_uc001lxc.3_Splice_Site_p.G135_splice|NAP1L4_uc010qxn.2_Splice_Site_p.G135_splice	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	135					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CATGTCTCCCTAAAAAAAAGA	0.418												
PSPC1	55269	broad.mit.edu	37	13	20304380	20304380	+	Splice_Site	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:20304379_20304379AT>A	uc021rgx.1	-	7	1295	c.1158_splice	c.e7+1	p.N386_splice		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GTTTACTTACATTTTCCATGT	0.373												
STRN3	29966	broad.mit.edu	37	14	31381213	31381213	+	Splice_Site	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:31381212_31381212CT>C	uc001wqu.2	-	11	1766	c.1550_splice	c.e11+1	p.K517_splice	STRN3_uc001wqv.2_Splice_Site_p.K433_splice|STRN3_uc010tpj.1_Splice_Site	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	517					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AAAATACTTGCTTTTTGGCAG	0.378												
SYNE2	23224	broad.mit.edu	37	14	64586330	64586330	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:64586329_64586329TA>T	uc001xgl.3	+	67	13253	c.13023_splice	c.e67+2	p.Q4341_splice	SYNE2_uc001xgm.3_Splice_Site_p.Q4341_splice|SYNE2_uc021ruh.1_Splice_Site_p.Q4356_splice|SYNE2_uc010apy.3_Splice_Site_p.Q726_splice|SYNE2_uc010apz.1_Splice_Site_p.Q233_splice	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4341					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGATCAGGTAAAAAATGAC	0.423												
AQR	9716	broad.mit.edu	37	15	35240588	35240588	+	Splice_Site	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:35240587_35240587TG>T	uc001ziv.3	-	5	391	c.210_splice	c.e5-1	p.S70_splice		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	70						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		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)		AGATACTGGCTGTAAAGAGTA	0.333												
KIAA0100	9703	broad.mit.edu	37	17	26966334	26966334	+	Splice_Site	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:26966333_26966333CT>C	uc002hbu.3	-	11	1332	c.1229_splice	c.e11+1	p.R410_splice	KIAA0100_uc002hbv.3_Frame_Shift_Del_p.R410fs	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	410						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGACTGACCTTTTTTTCCT	0.433												
YIPF2	78992	broad.mit.edu	37	19	11034678	11034678	+	Splice_Site	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:11034677_11034677TG>T	uc002mqc.3	-	7	612	c.485_splice	c.e7-1	p.V162_splice	DQ597473_uc021upb.1_5'Flank|YIPF2_uc002mqb.3_Splice_Site_p.V162_splice	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Homo sapiens Yip1 domain family, member 2 (YIPF2), mRNA.	162						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCACGGTCACTGGGGGGGGCA	0.672												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002027	+	Splice_Site	DEL	AA	AA	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:22002025_22002026TAA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACAA	0.386												
RERE	473	broad.mit.edu	37	1	8420244	8420244	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:8420244delG	uc001ape.2	-	19	4133	c.3323delC	c.(3322-3324)CCTfs	p.P1108fs	RERE_uc001apf.2_Frame_Shift_Del_p.P1108fs|RERE_uc010nzx.1_Frame_Shift_Del_p.P840fs|RERE_uc001apd.2_Frame_Shift_Del_p.P554fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1108	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGGTGGGGGAGGGGGGCTCTC	0.682												
GPR88	54112	broad.mit.edu	37	1	101005242	101005244	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:101005242_101005244delCGC	uc001dth.2	+	2	1124_1126	c.720_722delCGC	c.(718-723)TGCGCC>TGC	p.A246del		NM_022049	NP_071332	Q9GZN0	GPR88_HUMAN	G-protein coupled receptor 88	246	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		Tgcccggctgcgccgccgccgcc	0.286												
HIPK1	204851	broad.mit.edu	37	1	114497345	114497345	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:114497345delT	uc001eem.2	+	4	1434	c.1273delT	c.(1273-1275)TTTfs	p.F425fs	HIPK1_uc001eel.2_Frame_Shift_Del_p.F425fs|HIPK1_uc001een.2_Frame_Shift_Del_p.F425fs|HIPK1_uc001eeo.2_Frame_Shift_Del_p.F51fs|HIPK1_uc001eep.2_Frame_Shift_Del_p.F31fs	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	425	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACAACCAGGTTTTTCAACAG	0.448												
TRIM33	51592	broad.mit.edu	37	1	114948108	114948110	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:114948108_114948110delCTC	uc001eew.2	-	15	2774_2776	c.2690_2692delGAG	c.(2689-2694)GGAGAT>GAT	p.G897del	TRIM33_uc010owr.1_In_Frame_Del_p.G511del|TRIM33_uc010ows.1_In_Frame_Del_p.G529del|TRIM33_uc001eex.2_In_Frame_Del_p.G897del|TRIM33_uc001eey.1_In_Frame_Del_p.G92del	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	897	PHD-type.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACAAGAGATCTCCTCCGTTTTG	0.429			T	RET	papillary thyroid							
PRG4	10216	broad.mit.edu	37	1	186277954	186277954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:186277954delA	uc001gru.3	+	7	3154	c.3103delA	c.(3103-3105)AAAfs	p.K1035fs	PRG4_uc001grt.3_Frame_Shift_Del_p.K994fs|PRG4_uc009wyl.2_Frame_Shift_Del_p.K942fs|PRG4_uc009wym.2_Frame_Shift_Del_p.K901fs|PRG4_uc010poo.1_RNA	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1035					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CACTTCTACCAAAAAGCCAAA	0.418												
GPR25	2848	broad.mit.edu	37	1	200842454	200842456	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:200842454_200842456delGCG	uc001gvn.1	+	1	289_291	c.289_291delGCG	c.(289-291)GCGdel	p.A100del		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	100	Extracellular (Potential).|Poly-Ala.					integral to plasma membrane				ovary(1)	1						GCTGTGGGCCGCGGCGGCGGCGC	0.645												
C4BPB	725	broad.mit.edu	37	1	207263776	207263776	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:207263776delT	uc001hfj.2	+	3	312	c.182delT	c.(181-183)CTTfs	p.L61fs	C4BPB_uc001hfi.2_Frame_Shift_Del_p.L60fs|C4BPB_uc001hfk.2_Frame_Shift_Del_p.L60fs|C4BPB_uc001hfl.2_Frame_Shift_Del_p.L61fs|C4BPB_uc009xcd.2_Frame_Shift_Del_p.L51fs|C4BPB_uc001hfm.2_Frame_Shift_Del_p.L61fs|C4BPB_uc010pse.1_Frame_Shift_Del_p.L51fs	NM_001017365	NP_001017365	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	61	Sushi 1.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				ovary(1)	1						AAGAAGACCCTTTTTTGCAAT	0.443												
PLXNA2	5362	broad.mit.edu	37	1	208227819	208227820	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:208227819_208227820insA	uc001hgz.2	-	14	3560_3561	c.2802_2803insT	c.(2800-2805)ATTGGCfs	p.I934fs		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	934_935	Extracellular (Potential).|IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTACACTCGCCAATACACAGGC	0.594												
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353												
MTPAP	55149	broad.mit.edu	37	10	30629179	30629179	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:30629179delA	uc001iva.3	-	3	594	c.531delT	c.(529-531)TTTfs	p.F177fs	MTPAP_uc001ivb.3_Frame_Shift_Del_p.F307fs|MTPAP_uc001ivc.2_Frame_Shift_Del_p.F177fs	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor	177					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1						AAAGTAATTCAAAAAGCTGCT	0.348												
HELLS	3070	broad.mit.edu	37	10	96352264	96352264	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:96352264delA	uc001kjt.2	+	17	2069	c.1964delA	c.(1963-1965)GAAfs	p.E655fs	HELLS_uc001kjs.2_Frame_Shift_Del_p.E639fs|HELLS_uc009xul.2_Frame_Shift_Del_p.E557fs|HELLS_uc009xum.2_Frame_Shift_Del_p.E525fs|HELLS_uc009xun.2_Frame_Shift_Del_p.E531fs|HELLS_uc009xuo.2_Frame_Shift_Del_p.E701fs|HELLS_uc001kju.2_Frame_Shift_Del_p.E294fs|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Frame_Shift_Del_p.E517fs|HELLS_uc009xur.2_RNA	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	655	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			ovary(1)|kidney(1)	2		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TCAGAGAGAGAAAAAAACGTA	0.348												
HSPA12A	259217	broad.mit.edu	37	10	118435944	118435944	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:118435944delA	uc001lct.2	-	11	1461	c.1356delT	c.(1354-1356)TTTfs	p.F452fs	HSPA12A_uc001lcu.2_Frame_Shift_Del_p.F369fs	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	452							ATP binding			ovary(1)	1				all cancers(201;0.0158)		TGGTCGGCTTAAAAAGGGCGT	0.562												
SLC18A2	6571	broad.mit.edu	37	10	119029967	119029967	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:119029967delA	uc001ldd.1	+	15	1464	c.1433delA	c.(1432-1434)GAAfs	p.E478fs	SLC18A2_uc009xyy.1_Frame_Shift_Del_p.E275fs	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine),	478	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCCAAAGAAGAAAAAATGGTA	0.373												
MAP3K11	4296	broad.mit.edu	37	11	65366996	65366996	+	Frame_Shift_Del	DEL	G	G	-	rs144595056	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:65366996delG	uc001oew.2	-	9	2568	c.2075delC	c.(2074-2076)CCTfs	p.P692fs	MAP3K11_uc001oev.2_Frame_Shift_Del_p.P108fs|MAP3K11_uc010rol.1_Frame_Shift_Del_p.P435fs|MAP3K11_uc001oex.1_Frame_Shift_Del_p.P199fs	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	692	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						GAGCGGGGAAGGGGGCGGCTC	0.741												
TBC1D10C	374403	broad.mit.edu	37	11	67177159	67177159	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:67177159delC	uc001ola.2	+	10	1304	c.1275delC	c.(1273-1275)GGCfs	p.G425fs	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	425	Interaction with calcineurin.					intracellular	Rab GTPase activator activity				0			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGGCCCGGGGCCCCCCCATCG	0.682												
MFRP	83552	broad.mit.edu	37	11	119213688	119213688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:119213688delG	uc001pwj.2	-	10	1310	c.1150delC	c.(1150-1152)CACfs	p.H384fs	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Frame_Shift_Del_p.P308fs	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GAGACGAGGTGGGGGGGTGGC	0.622												
CLEC12A	160364	broad.mit.edu	37	12	10131960	10131961	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:10131960_10131961insA	uc001qwr.3	+	3	404_405	c.216_217insA	c.(214-219)ATGAAAfs	p.M72fs	CLEC12A_uc001qwq.2_Frame_Shift_Ins_p.M82fs|CLEC12A_uc001qws.3_Frame_Shift_Ins_p.M39fs|CLEC12A_uc001qwt.2_Frame_Shift_Ins_p.M1fs	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN	myeloid inhibitory C-type lectin-like receptor	72_73	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity|sugar binding			skin(1)	1						AGATAGAAATGAAAAAAATGAA	0.317												
TENC1	23371	broad.mit.edu	37	12	53453310	53453311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:53453310_53453311insC	uc001sbp.2	+	18	2020_2021	c.1885_1886insC	c.(1885-1887)TCCfs	p.S629fs	TENC1_uc001sbl.2_Frame_Shift_Ins_p.S505fs|TENC1_uc001sbn.2_Frame_Shift_Ins_p.S639fs|TENC1_uc001sbq.2_Frame_Shift_Ins_p.S124fs|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Frame_Shift_Ins_p.S124fs|TENC1_uc001sbs.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	629					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						CTATGAGGGATCCCCCCAGGGC	0.673												
TCHP	84260	broad.mit.edu	37	12	110344435	110344435	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:110344435delA	uc001tpn.2	+	5	668	c.515delA	c.(514-516)GAAfs	p.E172fs	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Frame_Shift_Del_p.E172fs	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	172	Glu-rich.|Interaction with keratin proteins.|Potential.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						CAGAAAGAAGAAAAAAAACAG	0.478												
NCOR2	9612	broad.mit.edu	37	12	124841289	124841289	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:124841289delG	uc010tba.1	-	23	3281	c.3164delC	c.(3163-3165)CCTfs	p.P1055fs	NCOR2_uc010tay.1_Frame_Shift_Del_p.P1054fs|NCOR2_uc010taz.1_Frame_Shift_Del_p.P1038fs|NCOR2_uc010tbb.1_Frame_Shift_Del_p.P1047fs|NCOR2_uc010tbc.1_Frame_Shift_Del_p.P1037fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.P1055fs	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1055					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)		AGTCCAGCAAGGGGGGTCCCC	0.687												
SOHLH2	54937	broad.mit.edu	37	13	36776224	36776224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:36776224delT	uc001uvj.2	-	2	144	c.55delA	c.(55-57)ATAfs	p.I19fs	SOHLH2_uc010tei.1_Frame_Shift_Del_p.I96fs	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	19					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		AAGATGTCTATTTTTGCCTGA	0.398												
TNFSF13B	10673	broad.mit.edu	37	13	108959260	108959260	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:108959260delT	uc001vqr.2	+	6	1099	c.832delT	c.(832-834)TTTfs	p.F278fs	TNFSF13B_uc010agj.2_Frame_Shift_Del_p.F259fs	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	tumor necrosis factor superfamily, member 13b	278	Extracellular (Potential).				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding				0	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			AGATGTCACATTTTTTGGTGC	0.388												
NYNRIN	57523	broad.mit.edu	37	14	24877215	24877215	+	Frame_Shift_Del	DEL	C	C	-	rs10148781	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:24877215delC	uc001wpf.3	+	3	657	c.339delC	c.(337-339)GGCfs	p.G113fs		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	113					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3						TGGTGCCTGGCCCCCCTGGCT	0.657												
TXNDC16	57544	broad.mit.edu	37	14	52907344	52907344	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:52907344delT	uc001wzs.2	-	19	2390	c.1941delA	c.(1939-1941)AAAfs	p.K647fs	TXNDC16_uc010tqu.1_Frame_Shift_Del_p.K642fs|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	647					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)					TCAATATTGCTTTTTTATACT	0.328												
AHSA1	10598	broad.mit.edu	37	14	77934510	77934510	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:77934510delG	uc001xtw.2	+	7	935	c.775delG	c.(775-777)GGGfs	p.G259fs	AHSA1_uc010tvk.1_Frame_Shift_Del_p.G259fs	NM_012111	NP_036243	O95433	AHSA1_HUMAN	activator of heat shock 90kDa protein ATPase	259					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAACGTCTCTGGGGAATTTAC	0.473												
TRPM7	54822	broad.mit.edu	37	15	50884195	50884195	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:50884195delT	uc001zyt.3	-	26	4501	c.4237delA	c.(4237-4239)AGCfs	p.S1413fs	TRPM7_uc010bew.1_Frame_Shift_Del_p.S1413fs	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	1413	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCCAAGTGGCTTTTGCAACTT	0.373												
CYP19A1	1588	broad.mit.edu	37	15	51504602	51504602	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:51504602delT	uc001zyz.3	-	10	1429	c.1178delA	c.(1177-1179)AACfs	p.N393fs	CYP19A1_uc001zza.3_Frame_Shift_Del_p.N393fs|CYP19A1_uc001zzb.2_Frame_Shift_Del_p.N393fs	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	393					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CAGGATAATGTTTGTCCCCTT	0.428												
MYO5A	4644	broad.mit.edu	37	15	52615583	52615583	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:52615583delA	uc002aby.2	-	36	4938	c.4694delT	c.(4693-4695)TTGfs	p.L1565fs	MYO5A_uc002abx.3_Frame_Shift_Del_p.L1538fs|MYO5A_uc010ugd.1_Frame_Shift_Del_p.L287fs	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1565	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CAAGCAGTGCAAAAATCGGCA	0.383												
SENP8	123228	broad.mit.edu	37	15	72432223	72432223	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:72432223delT	uc002atp.2	+	2	358	c.259delT	c.(259-261)TTTfs	p.F87fs		NM_145204	NP_660205	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	87	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			ovary(1)|skin(1)	2						GAGAGTTGTATTTTTAGCCAT	0.448												
SRRM2	23524	broad.mit.edu	37	16	2816741	2816743	+	In_Frame_Del	DEL	CTC	CTC	-	rs34563620		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2816741_2816743delCTC	uc002crk.2	+	11	6761_6763	c.6212_6214delCTC	c.(6211-6216)TCTCCT>TCT	p.P2073del	SRRM2_uc002crj.1_In_Frame_Del_p.P1977del|SRRM2_uc002crl.1_In_Frame_Del_p.P2073del|SRRM2_uc010bsu.1_In_Frame_Del_p.P1977del	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2073	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						TTAACAAGATCTCCTCCAGCCAT	0.547												
ERCC4	2072	broad.mit.edu	37	16	14029286	14029286	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:14029286delA	uc002dce.2	+	8	1506	c.1497delA	c.(1495-1497)GGAfs	p.G499fs	ERCC4_uc010uyz.1_Frame_Shift_Del_p.G49fs	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	499					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10						AAATGGTAGGAAAACCTGAAG	0.428			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
SMG1	23049	broad.mit.edu	37	16	18890990	18890990	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:18890990delA	uc002dfm.2	-	11	1708	c.1345delT	c.(1345-1347)TCTfs	p.S449fs	SMG1_uc010bwb.2_Frame_Shift_Del_p.S309fs	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	449	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						ACAGCCTCAGAAAAAAACACC	0.428												
CP110	9738	broad.mit.edu	37	16	19548632	19548632	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:19548632delA	uc002dgl.3	+	4	1888	c.1641delA	c.(1639-1641)GTAfs	p.V547fs	CP110_uc002dgk.3_Frame_Shift_Del_p.V547fs			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	547	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						CTTATGATGTAAAAAACCCTT	0.393												
KCTD13	253980	broad.mit.edu	37	16	29923364	29923364	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:29923364delT	uc002duv.2	-	3	612	c.421delA	c.(421-423)AGGfs	p.R141fs	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	141					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						AGCGTCTCCCTTTTTTGCTGG	0.448												
RPGRIP1L	23322	broad.mit.edu	37	16	53692705	53692705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:53692705delT	uc002ehp.2	-	11	1393	c.1329delA	c.(1327-1329)AAAfs	p.K443fs	RPGRIP1L_uc002eho.3_Frame_Shift_Del_p.K443fs|RPGRIP1L_uc010vgy.1_Frame_Shift_Del_p.K443fs|RPGRIP1L_uc010cbx.2_Frame_Shift_Del_p.K443fs|RPGRIP1L_uc010vgz.1_Frame_Shift_Del_p.K443fs	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	443	Potential.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				ATTTTATGCGTTTTTTAAGTT	0.274												
CPNE7	27132	broad.mit.edu	37	16	89644102	89644102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:89644102delG	uc002fnp.2	+	2	460	c.330delG	c.(328-330)CTGfs	p.L110fs	CPNE7_uc002fnq.2_Frame_Shift_Del_p.L110fs	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	110	C2 1.				lipid metabolic process		transporter activity				0		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		ACGATTTCCTGGGGGGCATGG	0.647												
MPRIP	23164	broad.mit.edu	37	17	17046886	17046886	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:17046886delC	uc002gqu.1	+	9	1108	c.1052delC	c.(1051-1053)GCCfs	p.A351fs	MPRIP_uc002gqv.1_Frame_Shift_Del_p.A351fs|MPRIP_uc002gqw.1_Intron	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	351	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding				0						ACCAATGAAGCCCCCCCAGCT	0.652												
KSR1	8844	broad.mit.edu	37	17	25909933	25909933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:25909933delC	uc010crg.2	+	5	816	c.371delC	c.(370-372)ACCfs	p.T124fs	KSR1_uc002gzj.1_Intron	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	259				FSEGLSDTCIPLHASGRLTPRAL -> EFRHTSALTQHTAH TQHTSAHTQ (in Ref. 3).	Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGCCGGCTGACCCCCCGTGCC	0.697												
MED13	9969	broad.mit.edu	37	17	60087992	60087992	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:60087992delA	uc002izo.2	-	9	1963	c.1886delT	c.(1885-1887)TTAfs	p.L629fs	MED13_uc002izp.2_Frame_Shift_Del_p.L245fs	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	629					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			large_intestine(1)|ovary(1)	2						TTGAGGTGGTAAAAACTCTAC	0.353												
RNMT	8731	broad.mit.edu	37	18	13746253	13746253	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:13746253delA	uc002ksk.1	+	8	1241	c.1174delA	c.(1174-1176)AAAfs	p.K392fs	RNMT_uc002ksl.1_Frame_Shift_Del_p.K392fs|RNMT_uc002ksm.1_Frame_Shift_Del_p.K392fs|RNMT_uc010dlk.2_Frame_Shift_Del_p.K392fs|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	392					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0						ACTAGTCTACAAAAAAACATT	0.308												
B4GALT6	9331	broad.mit.edu	37	18	29207063	29207063	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:29207063delA	uc002kwz.3	-	7	1095	c.798delT	c.(796-798)TTTfs	p.F266fs	B4GALT6_uc010dma.2_Frame_Shift_Del_p.F227fs|B4GALT6_uc010dmb.2_Frame_Shift_Del_p.F227fs|B4GALT6_uc002kwy.3_5'Flank	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	beta-1,4-galactosyltransferase 6	266	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding				0			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TTACACCACCAAAAAATTCTT	0.358												
ZBTB7C	201501	broad.mit.edu	37	18	45567076	45567076	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:45567076delC	uc002lda.2	-	1	419	c.403delG	c.(403-405)GAGfs	p.E135fs	ZBTB7C_uc002ldb.2_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnu.2_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dnv.2_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dnw.2_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnx.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dny.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dnz.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dob.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doc.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dod.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010doe.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dof.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dog.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doh.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doi.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doj.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dok.1_Frame_Shift_Del_p.E184fs|ZBTB7C_uc010dol.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010doa.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010don.1_Frame_Shift_Del_p.E143fs|ZBTB7C_uc010doo.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dop.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010doq.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dor.1_Frame_Shift_Del_p.E157fs|ZBTB7C_uc010dos.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dot.1_Frame_Shift_Del_p.E135fs|ZBTB7C_uc010dou.1_Frame_Shift_Del_p.E144fs|ZBTB7C_uc010dom.1_Frame_Shift_Del_p.E144fs	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	135	Glu-rich.|Asp-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						tcatcctcctcccccccgtcc	0.279												
PARD6G	84552	broad.mit.edu	37	18	77917915	77917915	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:77917915delG	uc002lny.2	-	3	1036	c.870delC	c.(868-870)CCCfs	p.P290fs	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	290					cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CCGCCTCGTCGGGGTGGAAGT	0.751												
RAVER1	125950	broad.mit.edu	37	19	10434093	10434093	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:10434093delG	uc002moa.2	-	4	1037	c.957delC	c.(955-957)CCCfs	p.P319fs		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	302						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TACTGCGGCCGGGGGGCCCAG	0.716												
FAM187B	148109	broad.mit.edu	37	19	35716084	35716084	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:35716084delG	uc002nyk.1	-	2	799	c.754delC	c.(754-756)CTGfs	p.L252fs		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	252	Extracellular (Potential).					integral to membrane				ovary(2)	2						TCCCACGTCAGGGGGGTGTCG	0.657												
MLL4	9757	broad.mit.edu	37	19	36216189	36216189	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36216189delC	uc010eei.2	+	12	3597	c.3597delC	c.(3595-3597)GGCfs	p.G1199fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1199					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)			TGCCAGGGGGCCCCCCGATGG	0.602												
ASPDH	554235	broad.mit.edu	37	19	51015680	51015682	+	In_Frame_Del	DEL	GCC	GCC	-	rs138962881	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51015680_51015682delGCC	uc010enz.2	-	5	650_652	c.588_590delGGC	c.(586-591)GCGGCT>GCT	p.196_197AA>A	JOSD2_uc002psn.1_5'Flank|JOSD2_uc002pso.1_5'Flank|JOSD2_uc002psp.1_5'Flank|JOSD2_uc002psq.1_5'Flank|ASPDH_uc002psr.3_In_Frame_Del_p.91_92AA>A	NM_001114598	NP_001108070	A6ND91	ASPD_HUMAN	aspartate dehydrogenase isoform 1	196_197					NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding				0						AGCCAGGGCAGCCGCCGCCATGG	0.655												
SIGLEC10	89790	broad.mit.edu	37	19	51919372	51919372	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:51919372delT	uc002pwo.2	-	5	1420	c.804delA	c.(802-804)AAAfs	p.K268fs	SIGLEC10_uc002pwp.2_Frame_Shift_Del_p.K210fs|SIGLEC10_uc002pwq.2_Frame_Shift_Del_p.K210fs|SIGLEC10_uc002pwr.2_Frame_Shift_Del_p.K268fs|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Frame_Shift_Del_p.K220fs|SIGLEC10_uc010eow.2_Frame_Shift_Del_p.K80fs|SIGLEC10_uc002pws.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	268	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGAACTGGCCTTTTTGGGCTT	0.483												
CACNG8	59283	broad.mit.edu	37	19	54483177	54483177	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:54483177delG	uc002qcs.1	+	3	527	c.421delG	c.(421-423)GGGfs	p.G141fs	MIR935_hsa-mir-935|MI0005757_5'Flank	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	voltage-dependent calcium channel gamma-8	142	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCTGCTGCTCGGGGGTGTGTG	0.637												
U2AF2	11338	broad.mit.edu	37	19	56173906	56173906	+	Frame_Shift_Del	DEL	G	G	-	rs149491308		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:56173906delG	uc002qlu.2	+	6	1580	c.525delG	c.(523-525)CTGfs	p.L175fs	U2AF2_uc002qlt.2_Frame_Shift_Del_p.L175fs	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	175	RRM 1.				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)		AGATGCGCCTGGGGGGGCTGA	0.453												
ATAD2B	54454	broad.mit.edu	37	2	24149568	24149568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:24149568delC	uc002rek.3	-	1	367	c.73delG	c.(73-75)GCCfs	p.A25fs	ATAD2B_uc010yki.1_RNA|ATAD2B_uc010exx.1_Frame_Shift_Del_p.A25fs|UBXN2A_uc002rem.2_5'Flank|UBXN2A_uc010exy.2_5'Flank	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	25							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCTCCGGCCCCAGGCCCA	0.706												
DPYSL5	56896	broad.mit.edu	37	2	27162904	27162905	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27162904_27162905delCT	uc002rhu.3	+	9	1111_1112	c.953_954delCT	c.(952-954)ACTfs	p.T318fs	DPYSL5_uc002rhv.3_Frame_Shift_Del_p.T318fs	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	318					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAGTGACACTCTGAACATCG	0.505												
ETAA1	54465	broad.mit.edu	37	2	67626691	67626692	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:67626691_67626692insA	uc002sdz.1	+	3	501_502	c.362_363insA	c.(361-363)AGAfs	p.R121fs		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	121						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						GGTAAAGGAAGAAAAAAACAGA	0.267												
LRP1B	53353	broad.mit.edu	37	2	141115623	141115624	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:141115623_141115624insT	uc002tvj.1	-	74	12291_12292	c.11319_11320insA	c.(11317-11322)AAATGCfs	p.K3773fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3773_3774	Extracellular (Potential).|LDL-receptor class A 32.				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)		ATAGGGATGCATTTTTTATTAC	0.386										TSP Lung(27;0.18)		
GRB14	2888	broad.mit.edu	37	2	165353943	165353944	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:165353943_165353944delCT	uc002ucl.2	-	10	1702_1703	c.1161_1162delAG	c.(1159-1164)AGAGTTfs	p.R387fs	GRB14_uc010zcv.1_Frame_Shift_Del_p.R300fs|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	387_388					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						TTTTCTATAACTCTGCTTTTCT	0.381												
ITGA6	3655	broad.mit.edu	37	2	173335732	173335733	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:173335732_173335733insT	uc002uhp.1	+	5	877_878	c.674_675insT	c.(673-675)ACTfs	p.T225fs	ITGA6_uc010fqk.1_Frame_Shift_Ins_p.T111fs|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Frame_Shift_Ins_p.T225fs|ITGA6_uc010fql.2_RNA	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	225	Extracellular (Potential).|FG-GAP 3.				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AAGAATAACACTTTTTTTGACA	0.347												
ITGA6	3655	broad.mit.edu	37	2	173339813	173339813	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:173339813delA	uc002uhp.1	+	7	1346	c.1143delA	c.(1141-1143)GTAfs	p.V381fs	ITGA6_uc010fqk.1_Frame_Shift_Del_p.V267fs|ITGA6_uc010zdy.1_Frame_Shift_Del_p.V262fs|ITGA6_uc002uho.1_Frame_Shift_Del_p.V381fs|ITGA6_uc010fqm.1_Frame_Shift_Del_p.V27fs	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	420	FG-GAP 6.|Extracellular (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GCATTGCAGTAAAAAATATTG	0.343												
OSGEPL1	64172	broad.mit.edu	37	2	190620089	190620089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:190620089delT	uc002uqz.1	-	3	953	c.419delA	c.(418-420)AAGfs	p.K140fs	OSGEPL1_uc002ura.1_RNA|OSGEPL1_uc010zfy.1_Frame_Shift_Del_p.K140fs	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	140					proteolysis|tRNA processing		metalloendopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			AATGAATGGCTTTTTTAACTG	0.393												
DNAH7	56171	broad.mit.edu	37	2	196834715	196834715	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:196834715delT	uc002utj.3	-	17	2263	c.2162delA	c.(2161-2163)AAGfs	p.K721fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	721	Stem (By similarity).|Potential.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TATTTGAGCCTTTTTTAGGTA	0.338												
C2orf24	27013	broad.mit.edu	37	2	220037570	220037570	+	Frame_Shift_Del	DEL	G	G	-	rs144214406		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:220037570delG	uc002vju.3	-	8	1123	c.971delC	c.(970-972)CCAfs	p.P324fs	NHEJ1_uc002vjq.3_5'Flank|SLC23A3_uc010zkr.1_5'Flank|SLC23A3_uc010zks.1_5'Flank|SLC23A3_uc010fwb.2_5'Flank|C2orf24_uc002vjv.2_Frame_Shift_Del_p.P324fs	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	hypothetical protein LOC27013	324	Pro-rich.				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding				0		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGGGTCTGGGGGAGGCAA	0.617												
ECEL1	9427	broad.mit.edu	37	2	233350773	233350774	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:233350773_233350774insC	uc002vsv.2	-	2	795_796	c.590_591insG	c.(589-591)GGCfs	p.G197fs	ECEL1_uc010fya.1_Frame_Shift_Ins_p.G197fs|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	197	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGGGTCGCGGGCCCAGTCGCTC	0.594												
KIAA0406	9675	broad.mit.edu	37	20	36627613	36627613	+	Frame_Shift_Del	DEL	G	G	-	rs149568606		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:36627613delG	uc002xhl.2	-	6	2979	c.2770delC	c.(2770-2772)CTGfs	p.L924fs	KIAA0406_uc002xhm.2_Frame_Shift_Del_p.L924fs	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	924							binding				0		Myeloproliferative disorder(115;0.00874)				AGCACTGCCAGGGGGGCGTCC	0.577												
PTPRT	11122	broad.mit.edu	37	20	40739003	40739003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:40739003delG	uc002xkg.2	-	23	3408	c.3224delC	c.(3223-3225)CCGfs	p.P1075fs	PTPRT_uc010ggj.2_Frame_Shift_Del_p.P1094fs|PTPRT_uc010ggi.2_Frame_Shift_Del_p.P278fs	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1075	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCAGCTTCCGGGGGGTTGAG	0.453												
WISP2	8839	broad.mit.edu	37	20	43355771	43355771	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:43355771delC	uc002xmn.2	+	5	929	c.576delC	c.(574-576)GTCfs	p.V192fs	uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Frame_Shift_Del_p.V192fs|WISP2_uc002xmq.2_Frame_Shift_Del_p.S110fs	NM_003881	NP_003872	O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	192					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCCCTGGTGTCCCCTGCCCAG	0.502												
RNF160	26046	broad.mit.edu	37	21	30338713	30338713	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:30338713delT	uc002ymr.2	-	10	2251	c.2238delA	c.(2236-2238)AAAfs	p.K746fs	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	700							ligase activity|zinc ion binding				0						CATCCAAGACTTTTTTTCTTT	0.363												
RRP1	8568	broad.mit.edu	37	21	45223630	45223632	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:45223630_45223632delAGA	uc002zds.2	+	13	1454_1456	c.1361_1363delAGA	c.(1360-1365)GAGAAG>GAG	p.K458del	RRP1_uc010gpk.1_In_Frame_Del_p.K308del|RRP1_uc010gpl.1_In_Frame_Del_p.K356del|RRP1_uc010gpm.1_In_Frame_Del_p.K325del	NM_003683	NP_003674	P56182	RRP1_HUMAN	ribosomal RNA processing 1 homolog	458					rRNA processing	nucleolus|preribosome, small subunit precursor					0				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CAGGAGCCGGAGAAGAAGAAGAA	0.685												
GAS2L1	10634	broad.mit.edu	37	22	29707852	29707852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:29707852delC	uc003afa.1	+	7	1611	c.1412delC	c.(1411-1413)ACCfs	p.T471fs	GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Frame_Shift_Del_p.T471fs|GAS2L1_uc003afd.1_Frame_Shift_Del_p.P471fs|GAS2L1_uc003afe.1_Frame_Shift_Del_p.P471fs	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1 isoform a	471					cell cycle arrest	cytoplasm|cytoskeleton					0						GGCAGGAGCACCCCCCAGACT	0.711												
SLC25A17	10478	broad.mit.edu	37	22	41195058	41195058	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:41195058delA	uc003azc.2	-	2	224	c.84delT	c.(82-84)TTTfs	p.F28fs	SLC25A17_uc010gyg.2_RNA|SLC25A17_uc011aou.1_5'UTR|SLC25A17_uc003azd.2_RNA|SLC25A17_uc011aov.1_Frame_Shift_Del_p.F28fs	NM_006358	NP_006349	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier;	28	Solcar 1.|Helical; Name=1; (Potential).				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding				0						TATCCAGGGGAAAAAACACTG	0.348												
OXNAD1	92106	broad.mit.edu	37	3	16343348	16343348	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:16343348delA	uc003caw.2	+	7	1105	c.648delA	c.(646-648)GCAfs	p.A216fs	OXNAD1_uc010her.1_RNA|OXNAD1_uc003cax.2_Frame_Shift_Del_p.A216fs|OXNAD1_uc011awb.1_Frame_Shift_Del_p.A234fs	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	216							oxidoreductase activity			skin(1)	1						TCTACAGTGCAAAAAATACCA	0.403												
ZNF445	353274	broad.mit.edu	37	3	44492863	44492863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:44492863delC	uc003cnf.2	-	4	889	c.541delG	c.(541-543)GACfs	p.D181fs	ZNF445_uc011azv.1_Frame_Shift_Del_p.D181fs|ZNF445_uc011azw.1_Frame_Shift_Del_p.D181fs	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	181					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TCCAGGTGGTCCCCCAGAGCA	0.577												
CACNA2D3	55799	broad.mit.edu	37	3	54596940	54596940	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:54596940delT	uc003dhf.2	+	6	706	c.658delT	c.(658-660)TTTfs	p.F220fs	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Frame_Shift_Del_p.F126fs|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	220	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGCAAAGGGCTTTTTTAGGCA	0.378												
KALRN	8997	broad.mit.edu	37	3	124352739	124352740	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:124352739_124352740delCA	uc003ehg.2	+	36	5631_5632	c.5504_5505delCA	c.(5503-5505)TCAfs	p.S1835fs	KALRN_uc003ehi.2_Frame_Shift_Del_p.S208fs|KALRN_uc003ehk.2_Frame_Shift_Del_p.S138fs|KALRN_uc003ehj.2_Frame_Shift_Del_p.S138fs	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1835					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GATGAAGAGTCACACACACCCC	0.455												
TNFSF10	8743	broad.mit.edu	37	3	172224302	172224303	+	Frame_Shift_Ins	INS	-	-	A	rs112120355	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:172224302_172224303insA	uc003fid.2	-	5	920_921	c.825_826insT	c.(823-828)TTCGGGfs	p.F275fs	TNFSF10_uc003fie.2_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily,	275_276	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			skin(4)|lung(1)	5	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AAAAAGGCCCCAAAAAAACTGG	0.356												
MMRN1	22915	broad.mit.edu	37	4	90857472	90857472	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:90857472delA	uc003hst.2	+	6	2712	c.2641delA	c.(2641-2643)AAAfs	p.K881fs	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Frame_Shift_Del_p.K623fs	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	881					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TATTTCAGTTAAAAAAGGCAG	0.358												
TRAM1L1	133022	broad.mit.edu	37	4	118006156	118006156	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:118006156delA	uc003ibv.3	-	1	581	c.394delT	c.(394-396)TCTfs	p.S132fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	132	Helical; (Potential).|TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1						CAAATACAAGAAAAAAAGTAG	0.373												
FAT4	79633	broad.mit.edu	37	4	126238905	126238905	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:126238905delC	uc003ifj.3	+	1	1339	c.1339delC	c.(1339-1341)CCCfs	p.P447fs		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	447	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTACGGGGCGCCCCCTGGCGC	0.557											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PDGFC	56034	broad.mit.edu	37	4	157688934	157688934	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:157688934delT	uc003iph.1	-	5	1403	c.912delA	c.(910-912)AAAfs	p.K304fs	PDGFC_uc003ipi.1_Frame_Shift_Del_p.K141fs|PDGFC_uc011cis.1_Frame_Shift_Del_p.K141fs|PDGFC_uc011cir.1_Frame_Shift_Del_p.K148fs	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	304					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CCTCGTGGTATTTTTTAGTAA	0.393												
NPY1R	4886	broad.mit.edu	37	4	164246901	164246902	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:164246901_164246902insTA	uc003iqm.1	-	3	974_975	c.708_709insTA	c.(706-711)ATACGCfs	p.I236fs	NPY1R_uc011cjj.1_5'UTR	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	236_237	Cytoplasmic (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			lung(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTTTTAGGCGTATATATATCT	0.322												
TRIO	7204	broad.mit.edu	37	5	14488155	14488156	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:14488155_14488156insC	uc003jff.2	+	48	7424_7425	c.7418_7419insC	c.(7417-7419)TTCfs	p.F2473fs	TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Frame_Shift_Ins_p.F2122fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2473					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)					AAGGAGCCCTTCCCCCCCAGCA	0.743												
ERCC8	1161	broad.mit.edu	37	5	60186878	60186878	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:60186878delT	uc003jsm.3	-	10	949	c.879delA	c.(877-879)AAAfs	p.K293fs	ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Frame_Shift_Del_p.K235fs|ERCC8_uc011cqp.1_Frame_Shift_Del_p.K140fs	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	293					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				ATTTCAATCCTTTTTTACTGT	0.338								Direct_reversal_of_damage|NER				
AP3B1	8546	broad.mit.edu	37	5	77424993	77424993	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:77424993delT	uc003kfj.2	-	16	1914	c.1789delA	c.(1789-1791)ATAfs	p.I597fs		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	597					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GCTAGGAATATTTTTTTGGCA	0.328									Hermansky-Pudlak_syndrome			
FSTL4	23105	broad.mit.edu	37	5	132537666	132537668	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:132537666_132537668delATC	uc003kyn.1	-	15	2001_2003	c.1783_1785delGAT	c.(1783-1785)GATdel	p.D595del	FSTL4_uc003kym.1_In_Frame_Del_p.D244del	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	follistatin-like 4 precursor	595						extracellular region	calcium ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAATGAAGAAATCATCCACTCCT	0.571												
OR2Y1	134083	broad.mit.edu	37	5	180166307	180166308	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:180166307_180166308insA	uc003mmf.1	-	1	751_752	c.751_752insT	c.(751-753)TATfs	p.Y251fs		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	251	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGAGCCATAAAAAAGGAAA	0.455												
PHF1	5252	broad.mit.edu	37	6	33383637	33383637	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:33383637delC	uc003oeh.2	+	15	1702	c.1466delC	c.(1465-1467)GCCfs	p.A489fs	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Frame_Shift_Del_p.P454fs|PHF1_uc010jux.2_Frame_Shift_Del_p.A289fs	NM_024165	NP_077084	O43189	PHF1_HUMAN	PHD finger protein 1 isoform b	489					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(999;0.0443)				CCTAAAAGTGCCCCCCACTCG	0.532												
SLC17A5	26503	broad.mit.edu	37	6	74351534	74351534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:74351534delC	uc003phn.3	-	3	533	c.405delG	c.(403-405)GGGfs	p.G135fs	SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Frame_Shift_Del_p.E34fs	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	sialin	135					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			skin(5)|central_nervous_system(1)	6						GCAGCATTTTCCCCCCTATTT	0.468												
MYO6	4646	broad.mit.edu	37	6	76608118	76608118	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:76608118delT	uc003pih.1	+	30	3445	c.3166delT	c.(3166-3168)TTTfs	p.F1056fs	MYO6_uc003pig.1_Intron|MYO6_uc003pii.1_Intron|MYO6_uc003pij.1_Frame_Shift_Del_p.F13fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1065					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AATGTCAGAATTTTTGAGTAG	0.279												
C7orf27	221927	broad.mit.edu	37	7	2581015	2581015	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:2581015delC	uc003smi.2	-	9	1280	c.1238delG	c.(1237-1239)GGCfs	p.G413fs	C7orf27_uc003smh.3_5'UTR	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	413					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		ACAGAGGTGGCCCCCCACACT	0.687												
POR	5447	broad.mit.edu	37	7	75601744	75601747	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:75601744_75601747delAGAG	uc003udy.2	+	3	284_287	c.202_205delAGAG	c.(202-207)AGAGAGfs	p.R68fs	POR_uc011kgb.1_RNA	NM_000941	NP_000932	P16435	NCPR_HUMAN	cytochrome P450 reductase	65_66					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)	1					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	CTCCTCTGTCAGAGAGAGCAGCTT	0.520											OREG0018131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TRRAP	8295	broad.mit.edu	37	7	98609709	98609709	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:98609709delA	uc003upp.2	+	72	11520	c.11311delA	c.(11311-11313)AAAfs	p.K3771fs	TRRAP_uc011kis.1_Frame_Shift_Del_p.K3742fs|TRRAP_uc003upr.2_Frame_Shift_Del_p.K3477fs|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3771	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)			TGGCATTCTGAAAACGGTTCT	0.547												
SCRIB	23513	broad.mit.edu	37	8	144874553	144874554	+	Frame_Shift_Ins	INS	-	-	C	rs6991873	by1000genomes	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:144874553_144874554insC	uc003yzp.1	-	32	4357_4358	c.4350_4351insG	c.(4348-4353)CCGCCCfs	p.P1450fs	SCRIB_uc003yzn.1_Frame_Shift_Ins_p.P183fs|SCRIB_uc003yzo.1_Frame_Shift_Ins_p.P1450fs	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1450_1451					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTCCCAGGGGTGGGGGGGACG	0.752												
APBA1	320	broad.mit.edu	37	9	72131216	72131216	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:72131216delG	uc004ahh.2	-	2	1187	c.911delC	c.(910-912)CCTfs	p.P304fs		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	304	Pro-rich.|Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						ggccggggTAGGGGGACGCTC	0.348												
TXLNG	55787	broad.mit.edu	37	X	16847845	16847845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:16847845delG	uc004cxq.1	+	5	867	c.816delG	c.(814-816)CTGfs	p.L272fs	TXLNG_uc010ney.1_Frame_Shift_Del_p.L140fs	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	272	Potential.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						ACATTGAGCTGGGGGAGAAGC	0.443												
RBBP7	5931	broad.mit.edu	37	X	16876853	16876853	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:16876853delT	uc004cxt.2	-	4	785	c.427delA	c.(427-429)ACAfs	p.T143fs	RBBP7_uc004cxs.1_Frame_Shift_Del_p.T187fs|RBBP7_uc004cxu.2_Frame_Shift_Del_p.T134fs|RBBP7_uc010nez.2_Frame_Shift_Del_p.T12fs	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	143	WD 2.				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			upper_aerodigestive_tract(1)|ovary(1)	2	Hepatocellular(33;0.0997)					GAAGATGGTGTTTTTGTAGCA	0.363												
ZNF645	158506	broad.mit.edu	37	X	22291685	22291685	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:22291685delG	uc004dai.1	+	1	626	c.577delG	c.(577-579)GTGfs	p.V193fs		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	193						intracellular	zinc ion binding			lung(1)|pancreas(1)	2						ACTACCGTCTGTGCAACATAT	0.473												
GPR82	27197	broad.mit.edu	37	X	41586527	41586530	+	Frame_Shift_Del	DEL	ATCA	ATCA	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:41586527_41586530delATCA	uc004dfs.1	+	3	488_491	c.248_251delATCA	c.(247-252)TATCAAfs	p.Y83fs	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Frame_Shift_Del_p.Y83fs|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	83_84	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						CAATGGGAATATCAATCTGCTCAA	0.422												
ARAF	369	broad.mit.edu	37	X	47426415	47426415	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:47426415delC	uc011mlq.1	+	9	891	c.758delC	c.(757-759)ACCfs	p.T253fs	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Frame_Shift_Del_p.T119fs|ARAF_uc011mlp.1_Frame_Shift_Del_p.T253fs|ARAF_uc004dic.1_Frame_Shift_Del_p.T34fs	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	253					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	AGTGATGGAACCCCCCGGGGG	0.652												
IQSEC2	23096	broad.mit.edu	37	X	53280145	53280145	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:53280145delG	uc004dsd.2	-	5	1814	c.1613delC	c.(1612-1614)CCAfs	p.P538fs	IQSEC2_uc004dsc.2_Frame_Shift_Del_p.P333fs	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	528	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						GCCCTGGGGTGGGGGTTCTGT	0.637												
FAAH2	158584	broad.mit.edu	37	X	57313352	57313352	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:57313352delG	uc004dvc.2	+	1	243	c.94delG	c.(94-96)GGGfs	p.G32fs		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	32						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			ovary(3)	3						TTTAGTCTTAGGGGGTCCAAA	0.557										HNSCC(52;0.14)		
FAM46D	169966	broad.mit.edu	37	X	79698606	79698606	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:79698606delA	uc004edl.1	+	5	902	c.568delA	c.(568-570)AAAfs	p.K190fs	FAM46D_uc004edm.1_Frame_Shift_Del_p.K190fs	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	190										lung(2)	2						CTACAGTGACAAAAATGCCAA	0.383												
FAM133A	286499	broad.mit.edu	37	X	92964950	92964950	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:92964950delA	uc004efr.1	+	4	845	c.532delA	c.(532-534)AAAfs	p.K178fs		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	178	Ser-rich.|Lys-rich.										0						AAGCCTCAGCAAAAAAAGAAA	0.363												
MAGEA5	4104	broad.mit.edu	37	X	151283859	151283859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:151283859delC	uc004ffj.2	-	3	359	c.154delG	c.(154-156)GAGfs	p.E52fs		NM_021049	NP_066387	P43359	MAGA5_HUMAN	melanoma antigen family A, 5	52	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGCACCTCCCCCAGGGTG	0.622												
FLNA	2316	broad.mit.edu	37	X	153589691	153589691	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:153589691delG	uc004fkk.2	-	21	3441	c.3192delC	c.(3190-3192)CCCfs	p.P1064fs	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Frame_Shift_Del_p.P1064fs	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	1064	Filamin 9.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	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)					TAGGCTTGGTGGGGGCCACAG	0.622												
KIF1B	23095	broad.mit.edu	37	1	10407871	10407872	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:10407870_10407871A>AT	uc001aqx.4	+	35	4051_4052	c.3849_3850A>AT	c.(3847-3852)acatttfs	p.T1283fs	KIF1B_uc001aqw.4_Frame_Shift_Ins_p.T1237fs|KIF1B_uc001aqy.3_Frame_Shift_Ins_p.T1257fs|KIF1B_uc001aqz.3_Frame_Shift_Ins_p.T1283fs|KIF1B_uc001ara.3_Frame_Shift_Ins_p.T1243fs|KIF1B_uc001arb.3_Frame_Shift_Ins_p.T1269fs	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1283					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCCAGGGGACATTTTTGCTTCA	0.411												
MAD2L2	10459	broad.mit.edu	37	1	11735180	11735180	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:11735179_11735179CG>C	uc001asp.3	-	7	966	c.554_554CG>G	c.(553-555)cggfs	p.R185fs	MAD2L2_uc009vnc.3_Frame_Shift_Del_p.R185fs|MAD2L2_uc001asq.4_Frame_Shift_Del_p.R185fs	NM_006341	NP_006332	Q9UI95	MD2L2_HUMAN	Homo sapiens MAD2 mitotic arrest deficient-like 2 (yeast) (MAD2L2), transcript variant 2, mRNA.	185	HORMA.|Mediates interaction with ipaB.				DNA damage response, signal transduction resulting in transcription|cell division|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	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;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTATCAGCCGGGGGTCATG	0.582								DNA polymerases (catalytic subunits)				
VPS13D	55187	broad.mit.edu	37	1	12364662	12364663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:12364661_12364662G>GT	uc001atv.3	+	25	6456_6457	c.6315_6316G>GT	c.(6313-6318)cagttcfs	p.Q2105fs	VPS13D_uc001atw.3_Frame_Shift_Ins_p.Q2105fs|VPS13D_uc001atx.3_Frame_Shift_Ins_p.Q1293fs	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2105					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCCAGGGGCAGTTCACGATGCC	0.564												
SPEN	23013	broad.mit.edu	37	1	16260214	16260214	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:16260213_16260213GC>G	uc001axk.1	+	10	7682	c.7478_7478GC>G	c.(7477-7479)agcfs	p.S2493fs	SPEN_uc010obp.1_Frame_Shift_Del_p.S2452fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2493	Pro-rich.|RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		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)		CCACACCAGAGCCCCCCTACT	0.592												
EIF4G3	8672	broad.mit.edu	37	1	21226332	21226332	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:21226331_21226331CT>C	uc001bec.3	-	10	1946	c.1690_1690AG>G	c.(1690-1692)gtgfs	p.V564fs	EIF4G3_uc010odi.2_Frame_Shift_Del_p.V168fs|EIF4G3_uc010odj.2_Frame_Shift_Del_p.V563fs|EIF4G3_uc009vpz.3_Frame_Shift_Del_p.V284fs|EIF4G3_uc001bef.3_Frame_Shift_Del_p.V563fs|EIF4G3_uc001bee.3_Frame_Shift_Del_p.V570fs	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	564					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		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)		ACAGCTTTCACTTTTTTTAGG	0.438												
ARID1A	8289	broad.mit.edu	37	1	27105931	27105932	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:27105930_27105931T>TG	uc001bmv.1	+	19	5914_5915	c.5541_5542T>TG	c.(5539-5544)ggtgggfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Ins_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(6)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
KIAA1522	57648	broad.mit.edu	37	1	33236965	33236965	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:33236964_33236964AC>A	uc001bvu.1	+	5	2228	c.2184_2184AC>A	c.(2182-2184)tcafs	p.S728fs	KIAA1522_uc010ohm.1_Frame_Shift_Del_p.S680fs|KIAA1522_uc001bvv.2_Frame_Shift_Del_p.S669fs|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	669	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AAGACCAGTCACCCCCACCTT	0.592												
ZMYM4	9202	broad.mit.edu	37	1	35836080	35836081	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:35836079_35836080T>TA	uc001byt.3	+	6	1112_1113	c.1032_1033T>TA	c.(1030-1035)tgtaaafs	p.C344fs	ZMYM4_uc009vuu.3_Frame_Shift_Ins_p.C312fs|ZMYM4_uc001byu.3_Frame_Shift_Ins_p.C20fs|ZMYM4_uc009vuv.3_Frame_Shift_Ins_p.C83fs|AF119915_uc001byv.2_5'Flank	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	344					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTCTGGTTGTAAAAAAATCCT	0.480												
TEKT2	27285	broad.mit.edu	37	1	36552383	36552384	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:36552382_36552383GTC>G	uc001bzr.3	+	4	693_694	c.566_567GTC>G	c.(565-567)tgtfs	p.C189fs	TEKT2_uc001bzs.3_Frame_Shift_Del_p.C95fs|ADPRHL2_uc001bzt.3_5'Flank	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	Homo sapiens tektin 2 (testicular) (TEKT2), mRNA.	189					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACAGAGGCTGTCTCTCTCTCA	0.540												
ZNF684	127396	broad.mit.edu	37	1	41012382	41012383	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:41012381_41012382G>GA	uc001cft.2	+	4	637_638	c.386_387G>GA	c.(385-387)agafs	p.R129fs		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	Homo sapiens zinc finger protein 684 (ZNF684), mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	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;5.42e-18)			AATCCAATGAGAAAAAAATCAT	0.297												
PTCH2	8643	broad.mit.edu	37	1	45288194	45288194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:45288193_45288193AG>A	uc010olf.2	-	21	3518	c.3506_3506CT>T	c.(3505-3507)ctgfs	p.L1169fs	PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Frame_Shift_Del_p.L867fs	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1169					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCACCAGGCAGGGGGGGTGG	0.657									Basal Cell Nevus syndrome			
POMGNT1	55624	broad.mit.edu	37	1	46660270	46660271	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:46660269_46660270T>TC	uc001cpg.3	-	7	1357_1358	c.706_707A>GA	c.(706-708)gacfs	p.D236fs	POMGNT1_uc010olx.2_Frame_Shift_Ins_p.D214fs|POMGNT1_uc010oly.2_Non-coding_Transcript|POMGNT1_uc010olz.2_Frame_Shift_Ins_p.D93fs|POMGNT1_uc001cpe.3_Frame_Shift_Ins_p.D236fs|POMGNT1_uc001cpf.3_5'UTR|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_5'Flank	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.	236					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CAGGACTGGGTCCCCCCAGGAA	0.589												
FAM151A	338094	broad.mit.edu	37	1	55081757	55081758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:55081756_55081757T>TG	uc001cxn.3	-	2	483_484	c.351_352A>CA	c.(349-354)cccactfs	p.P117fs	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	117						integral to membrane		p.T118fs*43(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594												
USP33	23032	broad.mit.edu	37	1	78178969	78178969	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:78178968_78178968TA>T	uc001dht.3	-	21	2656	c.2309_splice	c.e21-1	p.G770_splice	USP33_uc001dhs.3_Splice_Site_p.G491_splice|USP33_uc001dhu.3_Splice_Site_p.G739_splice|USP33_uc001dhv.3_Splice_Site_p.G575_splice|USP33_uc001dhw.3_Splice_Site_p.G762_splice	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	770	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GAGGAACACCTAAAAAAATAT	0.289												
COL24A1	255631	broad.mit.edu	37	1	86554876	86554876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:86554875_86554875AG>A	uc001dlj.3	-	6	1764	c.1689_1689CT>T	c.(1687-1689)cctfs	p.P563fs	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Frame_Shift_Del_p.P563fs	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	563	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGCATACCAGGGGGGCCCA	0.333												
EVI5	7813	broad.mit.edu	37	1	93159366	93159367	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:93159365_93159366A>AT	uc010otf.2	-	8	1232_1233	c.1222_1223T>AT	c.(1222-1224)atgfs	p.M408fs	EVI5_uc001dox.3_Frame_Shift_Ins_p.M408fs|EVI5_uc001doy.1_Non-coding_Transcript	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	408	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding	p.K407T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TTACTTTTTCATTTTTTTTGAA	0.317												
POGZ	23126	broad.mit.edu	37	1	151378465	151378465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:151378464_151378464TC>T	uc001eyd.2	-	18	3362	c.3047_3047GA>A	c.(3046-3048)gagfs	p.E1016fs	POGZ_uc021oyq.1_Frame_Shift_Del_p.E963fs|POGZ_uc010pdb.2_Frame_Shift_Del_p.E1007fs|POGZ_uc010pdc.2_Frame_Shift_Del_p.E954fs|POGZ_uc009wmv.2_Frame_Shift_Del_p.E921fs|POGZ_uc001eyf.2_Frame_Shift_Del_p.E972fs|POGZ_uc010pdd.2_Frame_Shift_Del_p.E507fs	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	1016	HTH CENPB-type.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTCTAGATTCTCCCCCTGGGA	0.527												
NPR1	4881	broad.mit.edu	37	1	153659175	153659175	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:153659174_153659174AC>A	uc001fcs.4	+	10	2232	c.1811_1811AC>A	c.(1810-1812)gacfs	p.D604fs	NPR1_uc010pdz.2_Frame_Shift_Del_p.D350fs|NPR1_uc010pea.2_Frame_Shift_Del_p.D82fs	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	604	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	p.N607fs*21(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCCTGCACCGACCCCCCCAAT	0.592												
THBS3	7059	broad.mit.edu	37	1	155175014	155175016	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:155175013_155175015CAGG>C	uc001fix.3	-	2	484_486	c.379_381CCTG>G	c.(379-381)ctg>G	p.L127del	THBS3_uc010pfu.2_Intron|THBS3_uc009wqi.3_In_Frame_Del_p.L127del|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Intron|THBS3_uc001fja.2_Non-coding_Transcript|THBS3_uc009wqj.1_In_Frame_Del_p.L89del	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	127	TSP N-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCGGAGTCGCAGGAGAACTGTG	0.621												
CCT3	7203	broad.mit.edu	37	1	156290648	156290648	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:156290647_156290647AT>A	uc001fol.2	-	6	823	c.592_592AT>T	c.(592-594)tatfs	p.Y198fs	CCT3_uc010phj.2_Frame_Shift_Del_p.Y152fs|CCT3_uc010phk.2_Frame_Shift_Del_p.Y152fs|CCT3_uc001fon.2_Frame_Shift_Del_p.Y160fs|CCT3_uc010phl.2_Frame_Shift_Del_p.Y152fs	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	198					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ACTCTTGCATATTTTTTTATG	0.388												
GPATCH4	54865	broad.mit.edu	37	1	156565504	156565504	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:156565503_156565503CT>C	uc001fpm.3	-	7	678	c.630_630AG>G	c.(628-630)aagfs	p.K210fs	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.3_Frame_Shift_Del_p.K205fs	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	Homo sapiens G patch domain containing 4 (GPATCH4), transcript variant 1, mRNA.	205						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTCTTTTTCTTTTTTTTGG	0.532												
SPTA1	6708	broad.mit.edu	37	1	158622327	158622327	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:158622326_158622326CT>C	uc001fst.1	-	22	3505	c.3306_3306AG>G	c.(3304-3306)aagfs	p.K1102fs		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1102					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTTTTCTGCCTTTTTCTCTT	0.428												
ARHGAP30	257106	broad.mit.edu	37	1	161021109	161021114	+	In_Frame_Del	DEL	GGGCCA	GGGCCA	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:161021108_161021113GGGGCCA>G	uc001fxl.3	-	9	1757_1762	c.1411_1416TGGCCCC>C	c.(1411-1416)ggcccc>C	p.GP471del	ARHGAP30_uc001fxk.3_In_Frame_Del_p.GP471del|ARHGAP30_uc001fxm.3_In_Frame_Del_p.GP317del|ARHGAP30_uc009wtx.3_In_Frame_Del_p.GP144del|ARHGAP30_uc001fxn.1_In_Frame_Del_p.GP317del	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	471					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCTCACCTGGGgggccagggccaagg	0.636												
ADCY10	55811	broad.mit.edu	37	1	167814929	167814931	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:167814928_167814930ATCT>A	uc001ger.3	-	20	3176_3178	c.2878_2880AGAT>T	c.(2878-2880)gat>T	p.D960del	ADCY10_uc010plj.2_In_Frame_Del_p.D807del|ADCY10_uc009wvk.3_In_Frame_Del_p.D868del|ADCY10_uc009wvl.3_In_Frame_Del_p.D959del	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	960					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATCTGTGGGCATCTTCTTCTAAA	0.468												
BLZF1	8548	broad.mit.edu	37	1	169351458	169351458	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:169351457_169351457CA>C	uc001gfx.2	+	5	1392	c.955_955CA>C	c.(955-957)caafs	p.Q319fs	BLZF1_uc001gfy.3_Frame_Shift_Del_p.Q319fs|BLZF1_uc009wvp.1_Intron	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA.	319					Golgi organization|Golgi to plasma membrane protein transport|cell proliferation|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CATTAACAATCAAAAAAAGAT	0.383												
NAV1	89796	broad.mit.edu	37	1	201777113	201777113	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:201777112_201777112TA>T	uc021phi.1	+	17	4027	c.3680_3680TA>T	c.(3679-3681)atafs	p.I1227fs	NAV1_uc001gwu.3_Frame_Shift_Del_p.I1224fs|NAV1_uc001gwx.3_Frame_Shift_Del_p.I833fs|MIR1231_uc021phj.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1227					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCGTTCAGTATAAAAAAGGGG	0.493												
PIK3C2B	5287	broad.mit.edu	37	1	204416709	204416709	+	Splice_Site	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:204416708_204416708TG>T	uc001haw.3	-	16	2826	c.2347_splice	c.e16-1	p.I783_splice	PIK3C2B_uc010pqv.2_Splice_Site_p.I783_splice	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	783					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAAGTCAATCTGGGGGATGAG	0.577												
PLXNA2	5362	broad.mit.edu	37	1	208227820	208227821	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:208227819_208227820C>CA	uc001hgz.3	-	13	3560_3561	c.2802_2803G>TG	c.(2800-2805)attggcfs	p.I934fs		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	934	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				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)		TTACACTCGCCAATACACAGGC	0.594												
CENPF	1063	broad.mit.edu	37	1	214818826	214818827	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:214818825_214818826C>CA	uc001hkm.3	+	12	6086_6087	c.5912_5913C>CA	c.(5911-5913)tcafs	p.S1971fs		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2067					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GATACTATGTCAAAAAAAACCA	0.411												
DISP1	84976	broad.mit.edu	37	1	223164985	223164985	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:223164984_223164984CA>C	uc001hnu.2	+	6	1112	c.786_786CA>C	c.(784-786)gccfs	p.A262fs		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	262					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATGAACAAGCCAAAAGGTAAT	0.284												
HIST3H3	8290	broad.mit.edu	37	1	228612856	228612857	+	In_Frame_Ins	INS	-	-	CTT			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:228612855_228612856A>ACTT	uc001hsx.1	-	0	171_172	c.171_172T>AAGT	c.(169-174)aagtcc>aaAAGTcc	p.57_58KS>KS		NM_003493	NP_003484	Q16695	H31T_HUMAN	Homo sapiens histone cluster 3, H3 (HIST3H3), mRNA.	57					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				AGCTCAGTGGACTTCTGGTAGC	0.649												
AGT	183	broad.mit.edu	37	1	230839055	230839056	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:230839054_230839055C>CA	uc001hty.4	-	4	1798_1799	c.1290_1291G>TG	c.(1288-1293)tttgagfs	p.F430fs	AGT_uc009xff.3_Frame_Shift_Ins_p.F402fs	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	430					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	GCTTCAAGCTCAAAAAAAATGC	0.559												
HEATR1	55127	broad.mit.edu	37	1	236767430	236767430	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:236767429_236767429TA>T	uc001hyd.2	-	2	121	c.-31_splice	c.e2-1		HEATR1_uc001hye.2_Splice_Site	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.						rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGACACGGGCTAAAAAAACGT	0.473												
VN1R5	317705	broad.mit.edu	37	1	247419951	247419951	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr1:247419950_247419950CG>C	uc010pyu.2	+	1	574	c.574_574CG>C	c.(574-576)cggfs	p.R192fs		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	193					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			CCCAGTGAAACGGGGCCAGTC	0.463												
KIDINS220	57498	broad.mit.edu	37	2	8926140	8926140	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:8926139_8926139GT>G	uc002qzc.2	-	16	2143	c.1961_1961AC>C	c.(1960-1962)acafs	p.T654fs	KIDINS220_uc010yiv.1_Frame_Shift_Del_p.T420fs|KIDINS220_uc002qzd.2_Frame_Shift_Del_p.T612fs|KIDINS220_uc010yiw.1_Frame_Shift_Del_p.T655fs	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	654	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAGACAACATGTTTTTTTCCA	0.318												
GPR113	165082	broad.mit.edu	37	2	26534413	26534413	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:26534412_26534412AC>A	uc002rhe.4	-	10	2184	c.2184_2184GT>T	c.(2182-2184)ggtfs	p.G728fs	GPR113_uc010yky.1_Frame_Shift_Del_p.G659fs|GPR113_uc002rhb.1_Frame_Shift_Del_p.G331fs|GPR113_uc010eyk.1_Frame_Shift_Del_p.G529fs|GPR113_uc002rhc.1_Frame_Shift_Del_p.G331fs|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	728	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGGACCAACCCCCCCTGC	0.612												
EMILIN1	11117	broad.mit.edu	37	2	27305786	27305787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27305785_27305786T>TG	uc002rii.4	+	3	1845_1846	c.1346_1347T>TG	c.(1345-1347)ttgfs	p.L449fs	EMILIN1_uc010eyq.2_Frame_Shift_Ins_p.L449fs|EMILIN1_uc002rik.4_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	449					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGAGCAGTTGGGGGGGCTGC	0.708												
EMILIN1	11117	broad.mit.edu	37	2	27306611	27306611	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:27306610_27306610AG>A	uc002rii.4	+	3	2670	c.2171_2171AG>A	c.(2170-2172)gagfs	p.E724fs	EMILIN1_uc002rik.4_5'UTR	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	724					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAGCTTAGAGGGGCGATTG	0.647												
ZFP36L2	678	broad.mit.edu	37	2	43452512	43452512	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:43452511_43452511GC>G	uc002rsv.4	-	1	723	c.432_432GC>C	c.(430-432)ggcfs	p.G144fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	144	Poly-Gly.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGGAGCCGCCGCCCCCCTTCT	0.637												
PPM1B	5495	broad.mit.edu	37	2	44428501	44428501	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:44428500_44428500AT>A	uc002rtt.3	+	1	590	c.162_162AT>A	c.(160-162)tcafs	p.S54fs	PPM1B_uc002rts.3_Frame_Shift_Del_p.S54fs|PPM1B_uc002rtu.3_Frame_Shift_Del_p.S54fs|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Frame_Shift_Del_p.S54fs|PPM1B_uc002rtx.3_Frame_Shift_Del_p.S54fs	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	54					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGACTGGTCATTTTTTGCAG	0.448												
MTIF2	4528	broad.mit.edu	37	2	55489457	55489457	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:55489456_55489456GT>G	uc002ryn.3	-	5	1064	c.327_327AC>C	c.(325-327)aacfs	p.N109fs	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Frame_Shift_Del_p.N109fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						ACTCACCTGTGTTTTTTTCCA	0.363												
ETAA1	54465	broad.mit.edu	37	2	67626692	67626693	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:67626691_67626692G>GA	uc002sdz.1	+	2	501_502	c.362_363G>GA	c.(361-363)agafs	p.R121fs		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	121						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GGTAAAGGAAGAAAAAAACAGA	0.267												
GKN2	200504	broad.mit.edu	37	2	69179987	69179988	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:69179986_69179987A>AT	uc002sfa.3	-	0	116_117	c.7_8T>AT	c.(7-9)atafs	p.I3fs	GKN2_uc002sfb.4_Frame_Shift_Ins_p.I3fs	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	Homo sapiens gastrokine 2 (GKN2), mRNA.	3						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						ACTCACAAGTATTTTCATTTTG	0.416												
DYSF	8291	broad.mit.edu	37	2	71839797	71839798	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:71839796_71839797G>GC	uc010fen.3	+	38	4388_4389	c.4247_4248G>GC	c.(4246-4248)tgcfs	p.C1416fs	DYSF_uc010fei.3_Frame_Shift_Ins_p.C1415fs|DYSF_uc010feh.3_Frame_Shift_Ins_p.C1384fs|DYSF_uc002sig.4_Frame_Shift_Ins_p.C1384fs|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Frame_Shift_Ins_p.C1429fs|DYSF_uc010fee.3_Frame_Shift_Ins_p.C1398fs|DYSF_uc010fef.3_Frame_Shift_Ins_p.C1415fs|DYSF_uc002sie.3_Frame_Shift_Ins_p.C1398fs|DYSF_uc010feo.3_Frame_Shift_Ins_p.C1430fs|DYSF_uc010fej.3_Frame_Shift_Ins_p.C1385fs|DYSF_uc010fel.3_Frame_Shift_Ins_p.C1385fs|DYSF_uc010fem.3_Frame_Shift_Ins_p.C1399fs|DYSF_uc002sif.3_Frame_Shift_Ins_p.C1399fs|DYSF_uc010fek.3_Frame_Shift_Ins_p.C1416fs|DYSF_uc010yqy.2_Frame_Shift_Ins_p.C279fs|DYSF_uc010yqz.2_Frame_Shift_Ins_p.C138fs	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1398						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGCTCTACTGCCCCCCCATCA	0.619												
WBP1	23559	broad.mit.edu	37	2	74687543	74687543	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:74687542_74687542GC>G	uc002slj.2	+	3	747	c.544_544GC>G	c.(544-546)gccfs	p.A182fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	182							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCA	0.602												
CNNM4	26504	broad.mit.edu	37	2	97427678	97427678	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:97427677_97427677TC>T	uc002swx.3	+	0	1039	c.941_941TC>T	c.(940-942)ttcfs	p.F314fs		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	314	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTACTCACCTTCCCCCTCAGT	0.522												
BUB1	699	broad.mit.edu	37	2	111399006	111399006	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:111399005_111399005CT>C	uc002tgc.3	-	21	2774	c.2662_2662AG>G	c.(2662-2664)gtgfs	p.V888fs	BUB1_uc010yxh.2_Frame_Shift_Del_p.V868fs|BUB1_uc010fkb.3_Intron	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	888	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGAGGCATCACTTTTTCAGGG	0.358												
DDX18	8886	broad.mit.edu	37	2	118582216	118582216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:118582215_118582215GA>G	uc002tlh.1	+	7	1236	c.1137_1137GA>G	c.(1135-1137)ctgfs	p.L379fs		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	379	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.S378Y(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGATTTCTCTGAAAAAGGAGC	0.398												
LRP1B	53353	broad.mit.edu	37	2	141115624	141115625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:141115623_141115624A>AT	uc002tvj.1	-	73	12291_12292	c.11319_11320T>AT	c.(11317-11322)aaatgcfs	p.K3773fs		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3773	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGGGATGCATTTTTTATTAC	0.386										TSP Lung(27;0.18)		
FIGN	55137	broad.mit.edu	37	2	164467543	164467544	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:164467542_164467543G>GC	uc002uck.1	-	2	1110_1111	c.799_800C>GC	c.(799-801)gcafs	p.A267fs		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(4)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609												
FIGN	55137	broad.mit.edu	37	2	164468132	164468133	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:164468131_164468132A>AT	uc002uck.1	-	2	521_522	c.210_211T>AT	c.(208-213)aaatatfs	p.K70fs		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	70						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TTCTCTGCATATTTTTTTAGTA	0.480												
GRB14	2888	broad.mit.edu	37	2	165365340	165365340	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:165365339_165365339GA>G	uc002ucl.3	-	6	1381	c.840_840TC>C	c.(838-840)ttcfs	p.F280fs	GRB14_uc010zcv.2_Frame_Shift_Del_p.F193fs	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	280	PH.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CAAATTCGCTGAAAAACTGCA	0.323												
SCN1A	6323	broad.mit.edu	37	2	166894520	166894520	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:166894519_166894519CA>C	uc002udo.4	-	16	2940	c.2713_2713TG>G	c.(2713-2715)gccfs	p.A905fs	SCN1A_uc010fpk.3_Frame_Shift_Del_p.A877fs|SCN1A_uc021vsb.1_Frame_Shift_Del_p.A894fs	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	905						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCGACCACGGCAAAAATGAAG	0.463												
ITGA6	3655	broad.mit.edu	37	2	173335733	173335734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:173335732_173335733C>CT	uc002uhp.1	+	4	877_878	c.674_675C>CT	c.(673-675)actfs	p.T225fs	ITGA6_uc010fqk.1_Frame_Shift_Ins_p.T111fs|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Frame_Shift_Ins_p.T225fs|ITGA6_uc010fql.2_Non-coding_Transcript	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	225					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AAGAATAACACTTTTTTTGACA	0.347												
OSBPL6	114880	broad.mit.edu	37	2	179193016	179193017	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:179193015_179193016G>GA	uc002uly.3	+	4	772_773	c.228_229G>GA	c.(226-231)ctgaaafs	p.L76fs	OSBPL6_uc002ulw.3_Frame_Shift_Ins_p.L76fs|OSBPL6_uc002ulx.3_Frame_Shift_Ins_p.L76fs|OSBPL6_uc010zfe.2_Frame_Shift_Ins_p.L76fs|OSBPL6_uc002ulz.3_Frame_Shift_Ins_p.L76fs|OSBPL6_uc002uma.3_Frame_Shift_Ins_p.L55fs	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	76					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TAGAAGGGCTGAAAATAGGCCA	0.396												
CERKL	375298	broad.mit.edu	37	2	182403983	182403983	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:182403982_182403982GA>G	uc002unx.3	-	12	1554	c.1453_1453TC>C	c.(1453-1455)ccafs	p.P485fs	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Frame_Shift_Del_p.P459fs|CERKL_uc010zfm.2_Frame_Shift_Del_p.P441fs|CERKL_uc002unz.3_Frame_Shift_Del_p.P207fs|CERKL_uc002uoa.3_Frame_Shift_Del_p.P390fs|CERKL_uc002uob.3_Frame_Shift_Del_p.P207fs|CERKL_uc002uoc.3_Frame_Shift_Del_p.P346fs|CERKL_uc021vth.1_Frame_Shift_Del_p.P254fs|CERKL_uc021vti.1_Frame_Shift_Del_p.P207fs|CERKL_uc021vtj.1_Frame_Shift_Del_p.P162fs|CERKL_uc021vtk.1_Frame_Shift_Del_p.P207fs|CERKL_uc021vtl.1_Frame_Shift_Del_p.P162fs|CERKL_uc021vtm.1_Frame_Shift_Del_p.P254fs|CERKL_uc002uod.2_Frame_Shift_Del_p.P254fs|CERKL_uc002unw.3_Frame_Shift_Del_p.P55fs	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	485					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity	p.E484A(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCAACAAATGGAAAATTGAAC	0.353												
GPR1	2825	broad.mit.edu	37	2	207041592	207041592	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:207041591_207041591GA>G	uc021vvl.1	-	0	381	c.381_381TC>C	c.(379-381)ttcfs	p.F127fs	GPR1_uc002vbl.4_Frame_Shift_Del_p.F127fs|GPR1_uc010fue.3_Frame_Shift_Del_p.F127fs|GPR1_uc010fuf.3_Frame_Shift_Del_p.F127fs	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	127						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TCACTGTCAGGAAAAAAACAC	0.458												
TTLL4	9654	broad.mit.edu	37	2	219602834	219602834	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:219602833_219602833CT>C	uc002viy.3	+	2	804	c.434_434CT>C	c.(433-435)cctfs	p.P145fs	TTLL4_uc010zkl.1_5'UTR|TTLL4_uc010fvx.3_Frame_Shift_Del_p.P145fs	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	145					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		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)		GAAAAAAGCCCTTTTTCTCTC	0.542												
ECEL1	9427	broad.mit.edu	37	2	233350774	233350775	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:233350773_233350774G>GC	uc002vsv.2	-	1	795_796	c.590_591C>GC	c.(589-591)ggcfs	p.G197fs	ECEL1_uc010fya.1_Frame_Shift_Ins_p.G197fs|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	197					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGGGTCGCGGGCCCAGTCGCTC	0.757												
TRPM8	79054	broad.mit.edu	37	2	234879010	234879011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr2:234879009_234879010A>AC	uc002vvh.3	+	16	2334_2335	c.2294_2295A>AC	c.(2293-2295)cacfs	p.H765fs	TRPM8_uc010fyj.3_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	765						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCGGTGCCACACCCCCCCGAGC	0.574												
KAT2B	8850	broad.mit.edu	37	3	20193927	20193928	+	Frame_Shift_Ins	INS	-	-	C	rs139361011		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:20193926_20193927A>AC	uc003cbq.3	+	17	2854_2855	c.2408_2409A>AC	c.(2407-2409)aacfs	p.N803fs		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	803	Bromo.				N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AAAGAGTACAACCCCCCTGAGA	0.381												
GLB1	2720	broad.mit.edu	37	3	33055705	33055705	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:33055704_33055704GC>G	uc011axk.1	-	15	1839	c.1722_1722GC>C	c.(1720-1722)ggcfs	p.G574fs	GLB1_uc003cfh.1_Frame_Shift_Del_p.G496fs|GLB1_uc003cfi.1_Frame_Shift_Del_p.G526fs|GLB1_uc003cfj.1_Frame_Shift_Del_p.G395fs	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	526					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GGTGTCCCCAGCCCCCCAGGT	0.552												
SCN11A	11280	broad.mit.edu	37	3	38938482	38938483	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:38938481_38938482T>TC	uc021wvy.1	-	13	2456_2457	c.2257_2258A>GA	c.(2257-2259)gatfs	p.D753fs	SCN11A_uc010hhn.1_5'Flank	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	753					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D753Y(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTGCCAGAAATCCCCCATGTGC	0.490												
XIRP1	165904	broad.mit.edu	37	3	39229301	39229301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:39229300_39229300TC>T	uc003cjk.2	-	1	1866	c.1637_1637GA>A	c.(1636-1638)gacfs	p.D546fs	XIRP1_uc003cji.3_Frame_Shift_Del_p.D546fs|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Frame_Shift_Del_p.D546fs	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	546	Interaction with CTNNB1 (By similarity).						actin binding	p.G545A(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTGCCAACGTCCCCAGCCAC	0.607												
C3orf75	54859	broad.mit.edu	37	3	47555042	47555042	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:47555041_47555041CG>C	uc003crk.3	-	0	159	c.40_40CG>G	c.(40-42)gacfs	p.D14fs	C3orf75_uc011bba.2_5'UTR|C3orf75_uc003crl.1_Frame_Shift_Del_p.D14fs	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN	Homo sapiens chromosome 3 open reading frame 75 (C3orf75), mRNA.	14										endometrium(2)|large_intestine(1)|lung(2)	5						TCCGCCCTGTCGGGGGTGGTG	0.657												
PBRM1	55193	broad.mit.edu	37	3	52597340	52597340	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:52597339_52597339AG>A	uc003des.2	-	23	4058	c.4046_4046CT>T	c.(4045-4047)ctgfs	p.L1349fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.L1349fs|PBRM1_uc003der.2_Frame_Shift_Del_p.L1317fs|PBRM1_uc003det.2_Frame_Shift_Del_p.L1364fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.L1364fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.L1349fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.L1324fs|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Frame_Shift_Del_p.L1348fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1349				L -> P (in Ref. 4; AAI15010).	chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.L1349fs*35(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTCACTGGCCAGGGGGGTCTG	0.493			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""							
CNTN3	5067	broad.mit.edu	37	3	74548856	74548856	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:74548855_74548855AT>A	uc003dpm.1	-	1	217	c.137_137AT>T	c.(136-138)atafs	p.I46fs		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	46	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATGCAAAGTTATTTTTTTATC	0.368												
ZNF654	55279	broad.mit.edu	37	3	88189731	88189732	+	In_Frame_Ins	INS	-	-	GTA			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:88189730_88189731T>TGTA	uc003dqv.3	+	0	1469_1470	c.1270_1271T>TGTA	c.(1270-1272)tgt>TGTAt	p.C424C	CGGBP1_uc003dqu.3_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	Homo sapiens zinc finger protein 654 (ZNF654), mRNA.	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGAAAATAATTGTAGTAGTAGT	0.347												
OR5AC2	81050	broad.mit.edu	37	3	97806905	97806906	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:97806904_97806905T>TA	uc011bgs.2	+	0	888_889	c.888_889T>TA	c.(886-891)aataaafs	p.N296fs		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						GCTTGAGAAATAAAAAAGTCAT	0.347												
COL8A1	1295	broad.mit.edu	37	3	99514534	99514534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:99514533_99514533AC>A	uc003dti.1	+	2	1919	c.1791_1791AC>A	c.(1789-1791)aaafs	p.K597fs	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Frame_Shift_Del_p.K596fs|COL8A1_uc003dth.1_Frame_Shift_Del_p.K596fs	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	596	Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGGCGTGAAACCCCCCCATG	0.612												
ABI3BP	25890	broad.mit.edu	37	3	100569540	100569540	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:100569539_100569539GT>G	uc003dun.3	-	13	1350	c.1265_1265AC>C	c.(1264-1266)actfs	p.T422fs	ABI3BP_uc003duo.2_Frame_Shift_Del_p.T464fs	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	422	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGTTCTAGAAGTTTTAGGTGG	0.343												
SLC35A5	55032	broad.mit.edu	37	3	112299856	112299856	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:112299855_112299855AT>A	uc003dze.3	+	5	1136	c.891_891AT>A	c.(889-891)ggafs	p.G297fs		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	Homo sapiens solute carrier family 35, member A5 (SLC35A5), mRNA.	297						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						AGAACTGTGGATTTTTTTATG	0.413												
SEMA5B	54437	broad.mit.edu	37	3	122667488	122667488	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:122667487_122667487AG>A	uc003efz.1	-	2	498	c.194_194CT>T	c.(193-195)ctgfs	p.L65fs	SEMA5B_uc011bju.1_Frame_Shift_Del_p.L7fs|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Frame_Shift_Del_p.L65fs|SEMA5B_uc010hro.1_Frame_Shift_Del_p.L7fs|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	65					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGAGACAGCCAGGGGGCCTGC	0.622												
ATP2C1	27032	broad.mit.edu	37	3	130649322	130649322	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:130649321_130649321CA>C	uc011bli.2	+	1	466	c.170_170CA>C	c.(169-171)tcafs	p.S57fs	ATP2C1_uc011blg.2_Frame_Shift_Del_p.S57fs|ATP2C1_uc011blh.2_Frame_Shift_Del_p.S57fs|ATP2C1_uc003enk.3_Frame_Shift_Del_p.S7fs|ATP2C1_uc003enl.3_Frame_Shift_Del_p.S23fs|ATP2C1_uc003enm.3_Frame_Shift_Del_p.S23fs|ATP2C1_uc003enn.3_Frame_Shift_Del_p.S7fs|ATP2C1_uc003eno.3_Frame_Shift_Del_p.S23fs|ATP2C1_uc003enp.3_Frame_Shift_Del_p.S23fs|ATP2C1_uc003ent.3_Frame_Shift_Del_p.S23fs|ATP2C1_uc003ens.3_Frame_Shift_Del_p.S23fs	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	23					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GTATTGACATCAAAAAAAGCA	0.363									Hailey-Hailey disease			
PLOD2	5352	broad.mit.edu	37	3	145795694	145795694	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:145795693_145795693CT>C	uc003evr.1	-	13	2025	c.1519_1519AG>G	c.(1519-1521)gacfs	p.D507fs	PLOD2_uc003evq.1_Frame_Shift_Del_p.D167fs|PLOD2_uc011bnm.1_Frame_Shift_Del_p.D452fs|PLOD2_uc003evs.1_Intron	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	500					protein modification process|response to hypoxia	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			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	GTAGGGGAGTCTTTTTCCCTT	0.333												
TMEM41A	90407	broad.mit.edu	37	3	185212518	185212518	+	Frame_Shift_Del	DEL	A	A	-	rs150885877	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:185212517_185212517GA>G	uc003fpj.2	-	3	564	c.468_468TC>C	c.(466-468)ttcfs	p.F156fs	TMEM41A_uc003fpl.2_3'UTR	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	Homo sapiens transmembrane protein 41A (TMEM41A), mRNA.	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACA	0.443												
SENP2	59343	broad.mit.edu	37	3	185304262	185304263	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:185304261_185304262G>GC	uc003fpn.3	+	0	231_232	c.60_61G>GC	c.(58-63)gtgcccfs	p.V20fs	SENP2_uc011brv.2_Intron|SENP2_uc011brw.2_5'UTR	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	20					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACCGGTCGGTGCCCCCTGCCCG	0.678												
RNF168	165918	broad.mit.edu	37	3	196214348	196214351	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr3:196214347_196214350CCTGT>C	uc003fwq.3	-	2	1073_1076	c.478_481ACAGG>G	c.(478-483)caggcafs	p.Q160fs	RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	160	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTTTTTTCTGCCTGTCTTTTTTCC	0.466												
TMEM175	84286	broad.mit.edu	37	4	944297	944298	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:944296_944297GCA>G	uc003gbq.3	+	3	378_379	c.280_281GCA>G	c.(280-282)gcafs	p.A94fs	TMEM175_uc010ibl.1_Frame_Shift_Del_p.A94fs|TMEM175_uc003gbp.1_Frame_Shift_Del_p.A12fs|TMEM175_uc003gbs.3_5'UTR|TMEM175_uc003gbt.3_5'UTR|TMEM175_uc003gbr.3_Frame_Shift_Del_p.A12fs	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	94						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCCTGGGCAGCACACACAAGG	0.599												
HTT	3064	broad.mit.edu	37	4	3133117	3133117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:3133116_3133116GA>G	uc021xkv.1	+	14	2235	c.2090_2090GA>G	c.(2089-2091)ggafs	p.G697fs		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	697					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTAACAGGGGGAAAAAATGGT	0.478												
EVC	2121	broad.mit.edu	37	4	5735152	5735152	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:5735151_5735151GA>G	uc003gil.1	+	4	875	c.691_691GA>G	c.(691-693)gaafs	p.E231fs	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	231					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACTGAGGCAGGAAAAGCATAT	0.488												
DRD5	1816	broad.mit.edu	37	4	9785033	9785033	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:9785032_9785032AG>A	uc003gmb.4	+	0	1775	c.1379_1379AG>A	c.(1378-1380)gagfs	p.E460fs		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	460					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTGGACTGCGAGGGGGAGATT	0.502												
TAPT1	202018	broad.mit.edu	37	4	16165091	16165093	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:16165090_16165092TATG>T	uc010ied.1	-	13	1624_1626	c.1543_1545CATA>A	c.(1543-1545)ata>A	p.I515del	TAPT1_uc011bxd.1_Non-coding_Transcript|TAPT1_uc011bxe.1_In_Frame_Del_p.I404del	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	Homo sapiens transmembrane anterior posterior transformation 1 (TAPT1), mRNA.	515						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						CAAGTAATGGTATGATATTTTCC	0.374												
SLC34A2	10568	broad.mit.edu	37	4	25671387	25671388	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:25671386_25671387C>CT	uc003grr.3	+	6	834_835	c.753_754C>CT	c.(751-756)agcttcfs	p.S251fs	SLC34A2_uc003grs.3_Frame_Shift_Ins_p.S250fs|SLC34A2_uc010iev.3_Frame_Shift_Ins_p.S250fs	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	251					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.E250D(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TAGTGGAGAGCTTCCACTTCAA	0.495			T	ROS1	NSCLC							
KLF3	51274	broad.mit.edu	37	4	38691388	38691388	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:38691387_38691387GA>G	uc003gth.4	+	3	914	c.582_582GA>G	c.(580-582)cagfs	p.Q194fs	KLF3_uc003gtg.2_Frame_Shift_Del_p.Q194fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	194	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						CTATATCACAGAAAAAAATTA	0.363												
RBM47	54502	broad.mit.edu	37	4	40434726	40434731	+	In_Frame_Del	DEL	GCGGCT	GCGGCT	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:40434725_40434730CGCGGCT>C	uc003gvc.2	-	5	2190_2195	c.1480_1485AGCCGCG>G	c.(1480-1485)gccgcg>G	p.AA500del	RBM47_uc003gvd.2_In_Frame_Del_p.AA431del|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_In_Frame_Del_p.AA462del	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	500	Ala-rich.					nucleus	RNA binding|nucleotide binding	p.A425V(2)|p.A494V(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						cggctgcggccgcggctgcggcggca	0.578												
ATP10D	57205	broad.mit.edu	37	4	47563007	47563007	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:47563006_47563006AT>A	uc003gxk.1	+	13	2746	c.2582_2582AT>A	c.(2581-2583)catfs	p.H861fs	ATP10D_uc003gxl.1_Frame_Shift_Del_p.H109fs	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	861					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTGAGGAATCATTTTTTAGCT	0.403												
TMPRSS11E	28983	broad.mit.edu	37	4	69343337	69343337	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:69343336_69343336GA>G	uc003hdz.4	+	7	1021	c.957_957GA>G	c.(955-957)ctgfs	p.L319fs		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	319	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTGGAGCACTGAAAAATGATG	0.383												
ARHGAP24	83478	broad.mit.edu	37	4	86916162	86916162	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:86916161_86916161AC>A	uc003hpk.3	+	8	1803	c.1354_1354AC>A	c.(1354-1356)accfs	p.T452fs	ARHGAP24_uc003hpl.3_Frame_Shift_Del_p.T357fs|ARHGAP24_uc010ikf.3_Frame_Shift_Del_p.T367fs|ARHGAP24_uc003hpm.3_Frame_Shift_Del_p.T359fs	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	452					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AACCCAAACCACCCCCAATGG	0.502												
SLC10A6	345274	broad.mit.edu	37	4	87769943	87769943	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	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												
SCLT1	132320	broad.mit.edu	37	4	129964625	129964625	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:129964624_129964624TA>T	uc003igp.2	-	4	668	c.162_splice	c.e4-1	p.S54_splice	SCLT1_uc003igq.2_Splice_Site_p.S54_splice|SCLT1_uc010iob.1_Splice_Site_p.S54_splice|SCLT1_uc003igr.2_Splice_Site_p.S54_splice|SCLT1_uc003igt.4_Splice_Site_p.S54_splice	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	54						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GCTAAAAAGCTAAAAAAAGAC	0.269												
USP38	84640	broad.mit.edu	37	4	144135593	144135593	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:144135592_144135592TA>T	uc003ijb.3	+	8	2997	c.2463_2463TA>T	c.(2461-2463)gctfs	p.A821fs	USP38_uc003ija.4_Frame_Shift_Del_p.A821fs|USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	821					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					AGAACCTTGCTAAAAAATTAA	0.388												
FHDC1	85462	broad.mit.edu	37	4	153896924	153896925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr4:153896923_153896924G>GC	uc003inf.2	+	10	2555_2556	c.2480_2481G>GC	c.(2479-2481)agcfs	p.S827fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	827					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCTACATCCAGCCCCCCTGGGG	0.634												
RXFP3	51289	broad.mit.edu	37	5	33938214	33938214	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:33938213_33938213CG>C	uc003jic.2	+	0	1723	c.1368_1368CG>C	c.(1366-1368)agcfs	p.S456fs		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	456						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGGTCTACAGCGGGGGGCGCT	0.741												
IL7R	3575	broad.mit.edu	37	5	35876542	35876544	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:35876541_35876543CAAG>C	uc003jjs.3	+	7	1422_1424	c.1333_1335CAAG>C	c.(1333-1335)caa>C	p.Q445del	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	445					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GGGATCAAATCAAGAAGAAGCAT	0.463			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency					
C5orf42	65250	broad.mit.edu	37	5	37108533	37108534	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:37108532_37108533G>GT	uc011cpa.1	-	50	9510_9511	c.9279_9280C>AC	c.(9277-9282)aaacatfs	p.K3093fs	C5orf42_uc003jko.1_Frame_Shift_Ins_p.K124fs|C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Frame_Shift_Ins_p.K1611fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Ins_p.K2186fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	3093										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)			GCACTTCCATGTTTTTTTGTAT	0.431												
C5orf42	65250	broad.mit.edu	37	5	37169374	37169374	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:37169373_37169373GA>G	uc011cpa.1	-	33	6984	c.6753_6753TC>C	c.(6751-6753)ttcfs	p.F2251fs	C5orf42_uc011coy.1_Frame_Shift_Del_p.F751fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Del_p.F1326fs|C5orf42_uc003jkr.1_Frame_Shift_Del_p.F284fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2251										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)			GCAAAGGCCTGAAGGGAACTT	0.458												
RICTOR	253260	broad.mit.edu	37	5	38945715	38945715	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:38945714_38945714TA>T	uc003jlo.2	-	34	4606	c.4584_4584TA>A	c.(4582-4584)ttafs	p.L1528fs	RICTOR_uc003jlp.2_Frame_Shift_Del_p.L1504fs|RICTOR_uc010ivf.2_Splice_Site_p.E1182_splice	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1504					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTGTACTTTCTAAAAACAGAG	0.393												
SLC22A4	6583	broad.mit.edu	37	5	131679466	131679466	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:131679465_131679465GA>G	uc003kwq.3	+	9	1758	c.1593_1593GA>G	c.(1591-1593)gggfs	p.G531fs	LOC553103_uc021ydj.1_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	531					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TCAGATCTGGGAAAAAAACAA	0.323												
PCDH12	51294	broad.mit.edu	37	5	141336748	141336748	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:141336747_141336747TG>T	uc003llx.3	-	0	1881	c.670_670CA>A	c.(670-672)aagfs	p.K224fs		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTC	0.483												
SPINK5	11005	broad.mit.edu	37	5	147473960	147473961	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:147473959_147473960C>CT	uc003lox.2	+	8	782_783	c.709_710C>CT	c.(709-711)cttfs	p.L237fs	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Frame_Shift_Ins_p.L209fs|SPINK5_uc010jgr.2_Frame_Shift_Ins_p.L218fs|SPINK5_uc003low.2_Frame_Shift_Ins_p.L237fs|SPINK5_uc003loy.2_Frame_Shift_Ins_p.L237fs	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	237	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGGAAGGCTTTTTTGTACA	0.371												
SLC34A1	6569	broad.mit.edu	37	5	176825225	176825225	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:176825224_176825224AC>A	uc003mgk.4	+	12	1961	c.1857_1857AC>A	c.(1855-1857)ctafs	p.L619fs		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	619					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			TGGAGGAGCTACCCCCTGCCA	0.682												
ADAMTS2	9509	broad.mit.edu	37	5	178579173	178579173	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:178579172_178579172AG>A	uc003mjw.3	-	9	1702	c.1600_1600CT>T	c.(1600-1602)ttgfs	p.L534fs	ADAMTS2_uc011dgm.2_Frame_Shift_Del_p.L534fs	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	534	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTCCCGTCCAAGGGGGGCCCC	0.597												
OR2Y1	134083	broad.mit.edu	37	5	180166308	180166309	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr5:180166307_180166308T>TA	uc003mmf.1	-	0	751_752	c.751_752A>TA	c.(751-753)tatfs	p.Y251fs		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGAGCCATAAAAAAGGAAA	0.455												
JARID2	3720	broad.mit.edu	37	6	15487734	15487734	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:15487733_15487733AC>A	uc003nbj.3	+	5	1110	c.866_866AC>A	c.(865-867)cacfs	p.H289fs	JARID2_uc011diu.1_Frame_Shift_Del_p.H153fs|JARID2_uc011div.2_Frame_Shift_Del_p.H117fs|JARID2_uc011diw.1_Frame_Shift_Del_p.H251fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	289					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACCCATCACCACCCCCCTCTG	0.647												
KIF13A	63971	broad.mit.edu	37	6	17788023	17788023	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:17788022_17788022CT>C	uc003ncg.4	-	26	3506	c.3346_3346AG>G	c.(3346-3348)gtcfs	p.V1116fs	KIF13A_uc003ncf.3_Frame_Shift_Del_p.V1103fs|KIF13A_uc003nch.4_Frame_Shift_Del_p.V1116fs|KIF13A_uc003nci.4_Frame_Shift_Del_p.V1103fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1116					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome 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			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATTGCTGACTTTTTTTATC	0.418												
ABT1	29777	broad.mit.edu	37	6	26598159	26598161	+	In_Frame_Del	DEL	AAG	AAG	-	rs114186056	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:26598158_26598160CAAG>C	uc003nii.3	+	1	298_300	c.258_260CAAG>C	c.(256-261)cgcaag>cgCg	p.K89del		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	Homo sapiens activator of basal transcription 1 (ABT1), mRNA.	89	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|RNA binding|nucleotide binding|protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						TCGTGAGACGCAAGAAGAAGGCA	0.586												
HLA-A	3105	broad.mit.edu	37	6	29910372	29910372	+	Frame_Shift_Del	DEL	G	G	-	rs77233523	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:29910371_29910371CG>C	uc003nol.3	+	0	125	c.41_41CG>C	c.(40-42)tcgfs	p.S14fs	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Frame_Shift_Del_p.S14fs|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Frame_Shift_Del_p.S14fs|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.2_5'Flank|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	14					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTGCTACTCTCGGGGGCCCTG	0.711									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)		
COL11A2	1302	broad.mit.edu	37	6	33136751	33136752	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:33136750_33136751A>AG	uc003ocx.1	-	51	4061_4062	c.3833_3834T>CT	c.(3832-3834)cctfs	p.P1278fs	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Frame_Shift_Ins_p.P1192fs|COL11A2_uc003ocz.1_Frame_Shift_Ins_p.P1171fs	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1278	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACCTTCTCCAGGGGGGCCAGG	0.614												
RGL2	5863	broad.mit.edu	37	6	33263965	33263966	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:33263964_33263965G>GC	uc003odv.3	-	5	1168_1169	c.608_609C>GC	c.(607-609)ggcfs	p.G203fs	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_Intron|RGL2_uc003odw.3_Frame_Shift_Ins_p.G121fs|RGL2_uc011drb.2_Frame_Shift_Ins_p.G121fs	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	203	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGTCAGCGCTGCCCCCCCCAAC	0.653												
BRPF3	27154	broad.mit.edu	37	6	36181729	36181729	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:36181728_36181728TC>T	uc003olv.4	+	7	2778	c.2554_2554TC>T	c.(2554-2556)tccfs	p.S852fs	BRPF3_uc010jwb.3_Intron|BRPF3_uc011dtj.2_Intron|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	852					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGAGCAAGAATCCCCCCCGGA	0.502												
C6orf89	221477	broad.mit.edu	37	6	36867371	36867372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	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	38697695	38697696	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:38697694_38697695A>AT	uc021yzh.1	+	3	651_652	c.542_543A>AT	c.(541-543)aatfs	p.N181fs	DNAH8_uc003ooe.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						GCATTTACTAATTTTTTTGCGA	0.337												
DNAH8	1769	broad.mit.edu	37	6	38816440	38816440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:38816439_38816439TA>T	uc021yzh.1	+	36	5170	c.5061_5061TA>T	c.(5059-5061)tttfs	p.F1687fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.F1470fs	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						ATGCTCCATTTAAAAAAAATA	0.343												
AARS2	57505	broad.mit.edu	37	6	44268923	44268923	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:44268922_44268922TC>T	uc010jza.1	-	20	2767	c.2764_2764GA>A	c.(2764-2766)aagfs	p.K922fs	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	922					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CACAGCACCTTCCCCATGGGC	0.612												
HCRTR2	3062	broad.mit.edu	37	6	55039411	55039411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:55039410_55039410TC>T	uc003pcl.3	+	0	340	c.25_25TC>T	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			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)			ATTGGAGGACTCCCCCCCTTG	0.562												
PHF3	23469	broad.mit.edu	37	6	64394097	64394098	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:64394096_64394097C>CA	uc003pep.1	+	2	498_499	c.473_474C>CA	c.(472-474)acafs	p.T158fs	PHF3_uc010kaf.1_Frame_Shift_Ins_p.T158fs|PHF3_uc003pem.2_Frame_Shift_Ins_p.T111fs|PHF3_uc010kag.1_Frame_Shift_Ins_p.T70fs|PHF3_uc010kah.1_5'UTR|PHF3_uc003pen.2_Frame_Shift_Ins_p.T70fs|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Frame_Shift_Ins_p.T158fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	158					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTAAGTAACACAAAAAAAGCAT	0.381												
COL12A1	1303	broad.mit.edu	37	6	75851781	75851781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:75851780_75851780TC>T	uc021zbv.1	-	25	4960	c.4925_4925GA>A	c.(4924-4926)gagfs	p.E1642fs	COL12A1_uc021zbw.1_Frame_Shift_Del_p.E478fs|COL12A1_uc003phs.3_Frame_Shift_Del_p.E1642fs|COL12A1_uc003pht.3_Frame_Shift_Del_p.E478fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1642	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.E1642*(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGGAGGAGACTCCCCCTCGTC	0.483												
LCA5	167691	broad.mit.edu	37	6	80197085	80197085	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:80197084_80197084CA>C	uc003piy.3	-	8	2343	c.1731_1731TG>G	c.(1729-1731)ttgfs	p.L577fs	LCA5_uc003pix.3_Frame_Shift_Del_p.L577fs	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	577					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTGGAAATCCAAAAAACTAC	0.353												
NT5DC1	221294	broad.mit.edu	37	6	116560165	116560165	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:116560164_116560164CT>C	uc003pwj.3	+	10	1225	c.1130_1130CT>C	c.(1129-1131)tctfs	p.S377fs	NT5DC1_uc003pwl.3_Frame_Shift_Del_p.S327fs	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	Homo sapiens 5'-nucleotidase domain containing 1 (NT5DC1), mRNA.	377							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AAATGGGGCTCTTTTTTTATT	0.323												
LAMA2	3908	broad.mit.edu	37	6	129826417	129826418	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:129826416_129826417C>CA	uc021zfb.1	+	60	8724_8725	c.8619_8620C>CA	c.(8617-8622)cccaaafs	p.P2873fs	LAMA2_uc003qbn.3_Frame_Shift_Ins_p.P2871fs|LAMA2_uc003qbo.3_Frame_Shift_Ins_p.P2867fs|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2873	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCATCAGTCCCAAAAAAGCCGA	0.406												
LPA	4018	broad.mit.edu	37	6	160963770	160963770	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr6:160963769_160963769AC>A	uc003qtl.3	-	34	5590	c.5470_5470GT>T	c.(5470-5472)tgtfs	p.C1824fs		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4332	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.C1824G(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGGCCACACACCCCCCTACA	0.527												
CARD11	84433	broad.mit.edu	37	7	2968323	2968324	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:2968322_2968323C>CG	uc003smv.3	-	12	1997_1998	c.1663_1664G>CG	c.(1663-1665)cggfs	p.R555fs		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	555					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R548L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTGCGGCTCCGGGGGGGCTGC	0.589			Mis		DLBCL							
AIMP2	7965	broad.mit.edu	37	7	6057622	6057622	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:6057621_6057621TA>T	uc003spo.3	+	2	632	c.519_519TA>T	c.(517-519)aatfs	p.N173fs		NM_006303	NP_006294	Q13155	AIMP2_HUMAN	Homo sapiens aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 (AIMP2), mRNA.	173	Interaction with TP53.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GAGAACAGAATAAAAAACAGC	0.507												
THSD7A	221981	broad.mit.edu	37	7	11415500	11415500	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:11415499_11415499CT>C	uc021zzo.1	-	27	5148	c.4896_4896AG>G	c.(4894-4896)aagfs	p.K1632fs	THSD7A_uc021zzn.1_Frame_Shift_Del_p.K1630fs|BC040327_uc003ssb.3_Intron|THSD7A_uc003ssd.4_Frame_Shift_Del_p.K136fs	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1632						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTTTCTTTGGCTTTTTGCTGT	0.333										HNSCC(18;0.044)		
NUPL2	11097	broad.mit.edu	37	7	23224773	23224773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:23224772_23224772TG>T	uc003svu.3	+	1	464	c.205_205TG>T	c.(205-207)tggfs	p.W69fs	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAG	0.408												
ADCYAP1R1	117	broad.mit.edu	37	7	31126567	31126568	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:31126566_31126567CTG>C	uc003tca.2	+	10	1122_1123	c.833_834CTG>C	c.(832-834)actfs	p.T278fs	ADCYAP1R1_uc003tcg.3_Frame_Shift_Del_p.T278fs|ADCYAP1R1_uc003tce.2_Frame_Shift_Del_p.T278fs|ADCYAP1R1_uc003tcb.2_Frame_Shift_Del_p.T257fs|ADCYAP1R1_uc003tcc.2_Frame_Shift_Del_p.T278fs|ADCYAP1R1_uc003tcf.1_5'UTR	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	278					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGGACCCCAACTGTGTGTGTGA	0.520												
IGFBP1	3484	broad.mit.edu	37	7	45930305	45930305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:45930304_45930304CA>C	uc003tnp.3	+	1	800	c.507_507CA>C	c.(505-507)atcfs	p.I169fs		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	169						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TCACCAACATCAAAAAATGGA	0.522											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PKD1L1	168507	broad.mit.edu	37	7	47866996	47866996	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:47866995_47866995GC>G	uc003tny.2	-	44	6841	c.6807_6807GC>C	c.(6805-6807)ggcfs	p.G2269fs	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_5'UTR	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2269					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCTGTCTGGTGCCCCTCAGCT	0.652												
FIGNL1	63979	broad.mit.edu	37	7	50514614	50514614	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:50514613_50514613AT>A	uc003tpd.3	-	3	743	c.373_373AT>T	c.(373-375)ttcfs	p.F125fs	FIGNL1_uc003tpb.3_Frame_Shift_Del_p.F14fs|FIGNL1_uc003tpc.3_Frame_Shift_Del_p.F125fs|FIGNL1_uc003tpe.3_Frame_Shift_Del_p.F125fs|FIGNL1_uc010kyy.3_Frame_Shift_Del_p.F125fs|FIGNL1_uc022ada.1_Frame_Shift_Del_p.F125fs	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	125					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GAGTCTTTGAATTTTTTGCCA	0.383												
SBDS	51119	broad.mit.edu	37	7	66458407	66458407	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:66458406_66458406TA>T	uc003tvm.1	-	3	443	c.259_splice	c.e3-1	p.I87_splice		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Homo sapiens Shwachman-Bodian-Diamond syndrome (SBDS), mRNA.	87			I -> S (in SDS).		bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|rRNA processing|ribosomal large subunit biogenesis	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|rRNA binding|ribosome binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						AGTCAAAATCTAAAAAAATGC	0.323			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome			
WBSCR22	114049	broad.mit.edu	37	7	73105316	73105317	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:73105315_73105316C>CT	uc003tyu.3	+	5	490_491	c.432_433C>CT	c.(430-435)tgctttfs	p.C144fs	WBSCR22_uc010lbi.1_Intron|WBSCR22_uc003tyv.3_Frame_Shift_Ins_p.C106fs|WBSCR22_uc003tyt.3_Frame_Shift_Ins_p.C144fs|WBSCR22_uc022afv.1_Intron|WBSCR22_uc003tyw.1_Intron	NM_001202560	NP_001189489	O43709	WBS22_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 22 (WBSCR22), transcript variant 1, mRNA.	144						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCCTGTACTGCTTTTTTGCTTC	0.480												
CLIP2	7461	broad.mit.edu	37	7	73753188	73753188	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:73753187_73753187GC>G	uc003uam.3	+	2	858	c.531_531GC>G	c.(529-531)acgfs	p.T177fs	CLIP2_uc003uan.3_Frame_Shift_Del_p.T177fs	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	177						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCACGGCCACGCCCCCGCTGA	0.672												
SEMA3C	10512	broad.mit.edu	37	7	80378302	80378303	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:80378301_80378302A>AT	uc011kgw.2	-	16	1887_1888	c.1808_1809T>AT	c.(1807-1809)aatfs	p.N603fs	SEMA3C_uc003uhj.3_Frame_Shift_Ins_p.N585fs	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	585	Ig-like C2-type.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGTGGTGTTATTTTTTACTCC	0.426												
PEX1	5189	broad.mit.edu	37	7	92134190	92134191	+	Frame_Shift_Ins	INS	-	-	T	rs146228151		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:92134189_92134190G>GT	uc003uly.3	-	11	2023_2024	c.1927_1928C>AC	c.(1927-1929)accfs	p.T643fs	PEX1_uc011khr.2_Frame_Shift_Ins_p.T435fs|PEX1_uc010ley.3_Intron|PEX1_uc011khs.2_Frame_Shift_Ins_p.T321fs|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	643			Missing (in NALD).		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CACCTCTAGGGTTTTTTGTATG	0.446												
SAMD9	54809	broad.mit.edu	37	7	92735067	92735067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:92735066_92735066CT>C	uc003umf.3	-	2	615	c.345_345AG>G	c.(343-345)aagfs	p.K115fs	SAMD9_uc003umg.3_Frame_Shift_Del_p.K115fs|SAMD9_uc022ahg.1_Frame_Shift_Del_p.K115fs	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	115						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTCTTTACCCTTTTGTTTTT	0.378												
HEPACAM2	253012	broad.mit.edu	37	7	92844875	92844875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:92844874_92844874AT>A	uc011khy.2	-	3	647	c.624_624AT>T	c.(622-624)aatfs	p.N208fs	HEPACAM2_uc003uml.3_Frame_Shift_Del_p.N173fs|HEPACAM2_uc010lff.3_Frame_Shift_Del_p.N173fs|HEPACAM2_uc003umm.3_Frame_Shift_Del_p.N185fs	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	185	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CAGGTCTCCCATTTTTTAGCC	0.502												
CASD1	64921	broad.mit.edu	37	7	94185017	94185017	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:94185016_94185016AT>A	uc003uni.4	+	17	2567	c.2340_2340AT>A	c.(2338-2340)gcafs	p.A780fs	CASD1_uc003unj.4_Frame_Shift_Del_p.A780fs	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	780						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTATAGCTGCATTTTTTTGTG	0.343												
DYNC1I1	1780	broad.mit.edu	37	7	95442521	95442521	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:95442520_95442520AT>A	uc003uoc.4	+	3	513	c.236_236AT>A	c.(235-237)catfs	p.H79fs	DYNC1I1_uc003uod.4_Intron|DYNC1I1_uc003uob.3_Intron|DYNC1I1_uc003uoe.4_Frame_Shift_Del_p.H79fs|DYNC1I1_uc010lfl.3_Intron	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	79	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAGCCGCTGCATTTTTTAACA	0.448												
CUX1	1523	broad.mit.edu	37	7	101845304	101845305	+	Frame_Shift_Ins	INS	-	-	C	rs137933356		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:101845303_101845304G>GC	uc003uys.4	+	17	2886_2887	c.2759_2760G>GC	c.(2758-2760)agcfs	p.S920fs	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Frame_Shift_Ins_p.S909fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	909					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L911fs*20(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCACAGAACAGCCCCCTGCCAT	0.649												
NAPEPLD	222236	broad.mit.edu	37	7	102769242	102769242	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:102769241_102769241TA>T	uc011klj.1	-	2	283	c.204_splice	c.e2-1	p.S68_splice	NAPEPLD_uc003vbd.2_Splice_Site|NAPEPLD_uc003vbc.2_Splice_Site|NAPEPLD_uc003vbe.2_Splice_Site|NAPEPLD_uc003vbf.3_Intron	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	0					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTGAAGAACTAAAAAAAACA	0.338												
DOCK4	9732	broad.mit.edu	37	7	111580273	111580273	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:111580272_111580272CT>C	uc003vfy.3	-	10	1139	c.870_870AG>G	c.(868-870)aagfs	p.K290fs	DOCK4_uc003vfx.3_Frame_Shift_Del_p.K290fs|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Frame_Shift_Del_p.K290fs	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	290					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACAGGCATTCTTTTTTTCTC	0.453												
IFRD1	3475	broad.mit.edu	37	7	112112339	112112339	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:112112338_112112338TA>T	uc003vgh.3	+	10	1576	c.1106_1106TA>T	c.(1105-1107)gtafs	p.V369fs	IFRD1_uc011kmn.2_Frame_Shift_Del_p.V319fs|IFRD1_uc003vgj.3_Frame_Shift_Del_p.V369fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Del_p.V319fs|IFRD1_uc003vgk.3_Frame_Shift_Del_p.V86fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	369					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GATTGCTGGGTAAAAAAACAC	0.398												
C7orf58	79974	broad.mit.edu	37	7	120764394	120764394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:120764393_120764393AT>A	uc003vjq.4	+	7	1374	c.927_927AT>A	c.(925-927)acafs	p.T309fs	C7orf58_uc003vjr.1_Frame_Shift_Del_p.T309fs|C7orf58_uc003vjs.4_Frame_Shift_Del_p.T309fs|C7orf58_uc003vjt.4_Frame_Shift_Del_p.T89fs|C7orf58_uc010lkk.2_Frame_Shift_Del_p.T89fs	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	309						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)					AGCTGCAAACATTTTTTGAGA	0.398												
NUP205	23165	broad.mit.edu	37	7	135258404	135258404	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:135258403_135258403CA>C	uc003vsw.3	+	3	203	c.172_splice	c.e3-1	p.P58_splice	NUP205_uc011kqa.1_Splice_Site	NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	58					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCATTGTAGCCAAAAAATGTT	0.413												
CHRM2	1129	broad.mit.edu	37	7	136700150	136700150	+	Frame_Shift_Del	DEL	T	T	-	rs150934226		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:136700149_136700149GT>G	uc003vtf.1	+	3	1160	c.537_537GT>G	c.(535-537)cagfs	p.Q179fs	CHRM2_uc003vtg.1_Frame_Shift_Del_p.Q179fs|CHRM2_uc003vti.1_Frame_Shift_Del_p.Q179fs|CHRM2_uc003vtm.1_Frame_Shift_Del_p.Q179fs|CHRM2_uc003vtj.1_Frame_Shift_Del_p.Q179fs|CHRM2_uc003vtk.1_Frame_Shift_Del_p.Q179fs|CHRM2_uc003vtl.1_Frame_Shift_Del_p.Q179fs|CHRM2_uc003vtn.1_Frame_Shift_Del_p.Q179fs|CHRM2_uc003vto.1_Frame_Shift_Del_p.Q179fs|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Frame_Shift_Del_p.Q179fs	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	179					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GCTACATTCAGTTTTTTTCCA	0.498												
UBN2	254048	broad.mit.edu	37	7	138968106	138968107	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:138968105_138968106C>CA	uc011kqr.2	+	14	2454_2455	c.2454_2455C>CA	c.(2452-2457)cccaaafs	p.P818fs		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	818										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAGCTACTCCCAAAAAACTAGA	0.446												
EPHB6	2051	broad.mit.edu	37	7	142561448	142561448	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:142561447_142561447AG>A	uc011kst.2	+	5	946	c.159_159AG>A	c.(157-159)ccafs	p.P53fs	EPHB6_uc011ksu.2_Frame_Shift_Del_p.P53fs|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	53						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTACCCACCAGGGGGGGTGA	0.577												
WDR60	55112	broad.mit.edu	37	7	158695164	158695164	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr7:158695163_158695163CA>C	uc003woe.4	+	9	1392	c.1234_1234CA>C	c.(1234-1236)caafs	p.Q412fs	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_5'UTR	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	412										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TCCTCTAGCTCAAAAAAAGGA	0.373												
PPP1R3B	79660	broad.mit.edu	37	8	8998980	8998980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:8998979_8998979CT>C	uc022arp.1	-	0	183	c.183_183AG>G	c.(181-183)aagfs	p.K61fs	PPP1R3B_uc003wsn.4_Frame_Shift_Del_p.K61fs|PPP1R3B_uc003wso.4_Frame_Shift_Del_p.K61fs	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	61					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AGGACACCCGCTTTTTCACCT	0.542												
RP1L1	94137	broad.mit.edu	37	8	10470350	10470351	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:10470349_10470350ACT>A	uc003wtc.3	-	3	1487_1488	c.1258_1259AGT>T	c.(1258-1260)gtgfs	p.V420fs		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	420					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCGAGCTGCCACTCTCTCTCCC	0.663												
MTMR7	9108	broad.mit.edu	37	8	17159785	17159785	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:17159784_17159784CA>C	uc003wxm.3	-	12	1738	c.1499_1499TG>G	c.(1498-1500)tggfs	p.W500fs	MTMR7_uc003wxn.3_Frame_Shift_Del_p.W279fs|MTMR7_uc011kya.2_Frame_Shift_Del_p.W134fs|MTMR7_uc011kyb.2_Frame_Shift_Del_p.W91fs	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	500	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CATTCCACTCCAAAACCTGGA	0.443												
NAT2	10	broad.mit.edu	37	8	18258079	18258079	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:18258078_18258078AT>A	uc022asl.1	+	0	565	c.565_565AT>A	c.(565-567)atafs	p.I189fs	NAT2_uc003wyw.1_Frame_Shift_Del_p.I189fs	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	189					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		ACACCAAAAAATATACTTATT	0.358									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of			
SLC18A1	6570	broad.mit.edu	37	8	20004788	20004788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:20004787_20004787CG>C	uc011kyq.2	-	15	1917	c.1446_1446CG>G	c.(1444-1446)ccgfs	p.P482fs	SLC18A1_uc003wzm.3_Frame_Shift_Del_p.P482fs|SLC18A1_uc011kyr.2_Intron|SLC18A1_uc003wzn.3_Frame_Shift_Del_p.P450fs|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	482					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CTTCCTTTGCCGGGGGGCTCC	0.498												
RHOBTB2	23221	broad.mit.edu	37	8	22864673	22864674	+	Frame_Shift_Ins	INS	-	-	G	rs139255771		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:22864672_22864673T>TG	uc003xcp.2	+	6	1263_1264	c.980_981T>TG	c.(979-981)ctgfs	p.L327fs	RHOBTB2_uc011kzp.1_Frame_Shift_Ins_p.L312fs|RHOBTB2_uc003xcq.2_Frame_Shift_Ins_p.L305fs|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	305	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GAGGGGGAGCTGGGGGGCCCCT	0.624												
RHOBTB2	23221	broad.mit.edu	37	8	22874858	22874860	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:22874857_22874859AAGG>A	uc003xcp.2	+	11	2408_2410	c.2125_2127AAGG>A	c.(2125-2127)aag>A	p.K709del	RHOBTB2_uc011kzp.1_In_Frame_Del_p.K694del|RHOBTB2_uc003xcq.2_In_Frame_Del_p.K687del|BC043400_uc003xcr.3_Intron	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	687					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGAGCGTGAGAAGGAGGACTACC	0.581												
LOXL2	4017	broad.mit.edu	37	8	23156409	23156411	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:23156408_23156410ATGT>A	uc003xdh.1	-	12	2523_2525	c.2184_2186ACAT>T	c.(2182-2187)aacatc>aaTc	p.I729del	LOXL2_uc010lty.1_Intron	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	729	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCATTTCATGATGTTGTTGGAGT	0.571												
SNTG1	54212	broad.mit.edu	37	8	51705315	51705315	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:51705314_51705314AT>A	uc010lxy.1	+	19	1850	c.1479_1479AT>A	c.(1477-1479)ctafs	p.L493fs	SNTG1_uc003xqs.1_Frame_Shift_Del_p.L493fs|SNTG1_uc010lxz.1_Frame_Shift_Del_p.L456fs|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	493					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		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)				TGGACCCTCTATTTTTAGGCA	0.413												
ST18	9705	broad.mit.edu	37	8	53062482	53062483	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:53062481_53062482A>AT	uc003xqz.2	-	10	2018_2019	c.1862_1863T>AT	c.(1861-1863)aatfs	p.N621fs	ST18_uc011ldq.1_Frame_Shift_Ins_p.N268fs|ST18_uc011ldr.1_Frame_Shift_Ins_p.N586fs|ST18_uc011lds.1_Frame_Shift_Ins_p.N526fs|ST18_uc003xra.2_Frame_Shift_Ins_p.N621fs|ST18_uc003xrb.2_Frame_Shift_Ins_p.N621fs	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	621						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCAGGATTCGATTTTTTTTCAT	0.411												
TSPYL5	85453	broad.mit.edu	37	8	98289664	98289664	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:98289663_98289663CG>C	uc003yhy.3	-	0	514	c.410_410CG>G	c.(409-411)cgcfs	p.R137fs		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	137					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GTTTCCAACGCGGGGGGCATT	0.672												
AZIN1	51582	broad.mit.edu	37	8	103852031	103852031	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:103852030_103852030CA>C	uc003ykx.3	-	4	866	c.124_124TG>G	c.(124-126)gtgfs	p.V42fs	AZIN1_uc003yky.3_Frame_Shift_Del_p.V42fs	NM_015878	NP_680479	O14977	AZIN1_HUMAN	Homo sapiens antizyme inhibitor 1 (AZIN1), transcript variant 1, mRNA.	42					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AGATCTCCCACAAAAAATGCA	0.358												
LRP12	29967	broad.mit.edu	37	8	105511744	105511744	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:105511743_105511743GA>G	uc003yma.3	-	3	404	c.277_277TC>C	c.(277-279)cagfs	p.Q93fs	LRP12_uc003ymb.3_Frame_Shift_Del_p.Q74fs	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	93	CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCAAAATCCTGAAAACTGAAA	0.299												
FER1L6	654463	broad.mit.edu	37	8	125061917	125061918	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:125061916_125061917G>GC	uc003yqw.3	+	21	2999_3000	c.2793_2794G>GC	c.(2791-2796)gagcccfs	p.E931fs	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	931						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGACTATGAGCCCCCCAGGTT	0.495												
MTSS1	9788	broad.mit.edu	37	8	125568558	125568558	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:125568557_125568557TC>T	uc003yrl.2	-	12	1866	c.1332_1332GA>A	c.(1330-1332)ggafs	p.G444fs	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Frame_Shift_Del_p.G214fs|MTSS1_uc011lio.1_Frame_Shift_Del_p.G330fs|MTSS1_uc003yri.2_Frame_Shift_Del_p.G158fs|MTSS1_uc003yrj.2_Frame_Shift_Del_p.G415fs|MTSS1_uc003yrk.2_Frame_Shift_Del_p.G440fs	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	440					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGTGGGTCCTCCCCCGTTGG	0.622												
EIF2C2	27161	broad.mit.edu	37	8	141554345	141554346	+	Frame_Shift_Ins	INS	-	-	G	rs148575703	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:141554344_141554345C>CG	uc003yvn.3	-	13	1847_1848	c.1806_1807G>CG	c.(1804-1809)cccgccfs	p.P602fs	EIF2C2_uc010meo.3_Frame_Shift_Ins_p.P602fs|EIF2C2_uc010men.3_Frame_Shift_Ins_p.P525fs	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	602	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CCATCCCCGGCGGGGGGGTGAG	0.644												
GRINA	2907	broad.mit.edu	37	8	145065770	145065771	+	Splice_Site	DEL	TG	TG	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145065769_145065770CTG>C	uc003zan.1	+	2	545	c.379_splice	c.e2+1	p.S127_splice	GRINA_uc003zao.1_Splice_Site_p.S127_splice|GRINA_uc003zap.1_Splice_Site_p.S127_splice	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	127	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGACCCTGACTGTGAGTCTCA	0.663												
SPATC1	375686	broad.mit.edu	37	8	145095886	145095886	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr8:145095885_145095885TC>T	uc011lkw.2	+	2	1285	c.1183_1183TC>T	c.(1183-1185)tccfs	p.S395fs	SPATC1_uc011lkx.2_Frame_Shift_Del_p.S395fs	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	395								p.N395K(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	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)			TACCTCATCCTCCCCGGCTTC	0.612												
ERMP1	79956	broad.mit.edu	37	9	5801227	5801227	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:5801226_5801226GA>G	uc003zjm.1	-	10	2071	c.2017_2017TC>C	c.(2017-2019)ccafs	p.P673fs	ERMP1_uc022bdc.1_Non-coding_Transcript|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_Frame_Shift_Del_p.P287fs	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.	673					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GAGCTATATGGAAAAAATGTT	0.403												
ALDH1B1	219	broad.mit.edu	37	9	38396386	38396386	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:38396385_38396385AC>A	uc022bgy.1	+	0	640	c.640_640AC>A	c.(640-642)accfs	p.T214fs	ALDH1B1_uc004aay.3_Frame_Shift_Del_p.T214fs	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	214					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GGCAGAGCAGACCCCCCTCTC	0.597												
FANCC	2176	broad.mit.edu	37	9	97934320	97934320	+	Splice_Site	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:97934319_97934319AT>A	uc022bkl.1	-	5	660	c.456_splice	c.e5+1	p.N152_splice	FANCC_uc004avh.3_Splice_Site_p.N152_splice|FANCC_uc004avi.4_Splice_Site_p.N152_splice|FANCC_uc010mrm.1_Splice_Site|FANCC_uc011lul.1_Splice_Site	NM_001243743	NP_001230672	Q00597	FANCC_HUMAN	Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA.	152					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				AAATACTCACATTTTTAAGCA	0.333			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
RABEPK	10244	broad.mit.edu	37	9	127982926	127982927	+	Frame_Shift_Del	DEL	GA	GA	-	rs150980160		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:127982925_127982926GGA>G	uc004bpi.3	+	5	641_642	c.472_473GGA>G	c.(472-474)ggafs	p.G158fs	RABEPK_uc004bph.2_3'UTR|RABEPK_uc004bpj.3_Frame_Shift_Del_p.G107fs|RABEPK_uc004bpk.3_Frame_Shift_Del_p.G158fs	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	158					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		p.G157G(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CTTTGGGGGCGGAGAGAGAGGT	0.589												
SETX	23064	broad.mit.edu	37	9	135203742	135203742	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:135203741_135203741CA>C	uc004cbk.3	-	9	3427	c.3244_3244TG>G	c.(3244-3246)gagfs	p.E1082fs	SETX_uc004cbj.3_Frame_Shift_Del_p.E701fs|SETX_uc010mzt.3_Frame_Shift_Del_p.E701fs	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1082					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTTTCAAACTCAAAACACTGA	0.363												
BRD3	8019	broad.mit.edu	37	9	136918529	136918530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr9:136918528_136918529C>CG	uc004cew.3	-	1	259_260	c.71_72G>CG	c.(70-72)ccgfs	p.P24fs	BRD3_uc004cex.2_Frame_Shift_Ins_p.P24fs	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	24						nucleus	protein binding	p.P24fs*24(1)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGGAGACCTCCGGGGGGGGTGG	0.658			T	C15orf55	lethal midline carcinoma of young people							
FRMD4A	55691	broad.mit.edu	37	10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	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												
C10orf140	387640	broad.mit.edu	37	10	21804228	21804228	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:21804227_21804227CT>C	uc009xkd.3	-	3	4778	c.2525_2525AG>G	c.(2524-2526)aggfs	p.R842fs	AK055656_uc001iqp.1_Intron|C10orf140_uc021pnx.1_Frame_Shift_Del_p.R842fs	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.	761						nucleus	nucleotide binding			kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						ATGAAATGGCCTTTTCACTGC	0.418												
MLLT10	8028	broad.mit.edu	37	10	22021893	22021894	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:22021892_22021893T>TA	uc021pny.1	+	16	2283_2284	c.2283_2284T>TA	c.(2281-2286)attaaafs	p.I761fs	MLLT10_uc001iqs.3_Frame_Shift_Ins_p.I777fs|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Frame_Shift_Ins_p.I761fs|MLLT10_uc001ira.3_Frame_Shift_Ins_p.I218fs|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	777	Transactivation domain.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AGGAACAAATTAAAAACTTGAC	0.361			T	"""MLL, PICALM, CDK6"""	AL							
MASTL	84930	broad.mit.edu	37	10	27459506	27459507	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:27459505_27459506CTG>C	uc001itm.3	+	7	2220_2221	c.1617_1618CTG>C	c.(1615-1620)gactgtfs	p.D539fs	MASTL_uc001itl.3_Frame_Shift_Del_p.D539fs|MASTL_uc009xkw.2_Frame_Shift_Del_p.D539fs|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	539	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCGATGAAGACTGTGAAAAGAA	0.312												
ARMC4	55130	broad.mit.edu	37	10	28233164	28233164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:28233163_28233163AC>A	uc009xky.3	-	11	1829	c.1731_1731GT>T	c.(1729-1731)ggtfs	p.G577fs	ARMC4_uc010qds.2_Frame_Shift_Del_p.G102fs|ARMC4_uc010qdt.2_Frame_Shift_Del_p.G269fs|ARMC4_uc001itz.3_Frame_Shift_Del_p.G577fs|ARMC4_uc010qdu.1_Frame_Shift_Del_p.G269fs	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	577							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTTTGGTGATACCCCCGTGCT	0.527												
ERCC6	2074	broad.mit.edu	37	10	50678283	50678286	+	Frame_Shift_Del	DEL	CTCA	CTCA	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:50678282_50678285CCTCA>C	uc001jhs.4	-	17	3875_3878	c.3721_3724TGAGG>G	c.(3721-3726)gaggccfs	p.E1241fs	ERCC6_uc009xod.3_Frame_Shift_Del_p.E401fs|ERCC6_uc010qgr.2_Frame_Shift_Del_p.E611fs|ERCC6_uc001jhr.4_Frame_Shift_Del_p.E609fs	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1241					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGTTCCTTGGCCTCACTCTTGTTT	0.417								Direct reversal of damage;Nucleotide excision repair (NER)				
ERCC6	2074	broad.mit.edu	37	10	50679169	50679169	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:50679168_50679168TA>T	uc001jhs.4	-	17	3079	c.2925_splice	c.e17-1	p.R975_splice	ERCC6_uc009xod.3_Splice_Site_p.R135_splice|ERCC6_uc010qgr.2_Splice_Site_p.R345_splice|ERCC6_uc001jhr.4_Splice_Site_p.R343_splice	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	975	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGATTTGTCTAAAAAAATAA	0.323								Direct reversal of damage;Nucleotide excision repair (NER)				
WAPAL	23063	broad.mit.edu	37	10	88259565	88259565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:88259564_88259564CT>C	uc001kdn.3	-	3	1574	c.1565_1565AG>G	c.(1564-1566)agafs	p.R522fs	WAPAL_uc001kdo.3_Frame_Shift_Del_p.R479fs|WAPAL_uc009xsw.3_Frame_Shift_Del_p.R479fs	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	479	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGTTTTAGTTCTTTTTTTGCT	0.383												
LZTS2	84445	broad.mit.edu	37	10	102762354	102762355	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:102762353_102762354G>GC	uc001ksj.3	+	1	228_229	c.58_59G>GC	c.(58-60)gccfs	p.A20fs	LZTS2_uc010qpw.2_Frame_Shift_Ins_p.A20fs|LZTS2_uc001ksk.3_Frame_Shift_Ins_p.A20fs|LZTS2_uc001ksl.3_Frame_Shift_Ins_p.A20fs|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	20	Required for centrosomal localization (By similarity).				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGCTGCCACTGCCCCACAAGCT	0.693												
HPS6	79803	broad.mit.edu	37	10	103827023	103827024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:103827022_103827023A>AG	uc001kuj.3	+	0	1899_1900	c.1791_1792A>AG	c.(1789-1794)gcagggfs	p.A597fs		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	597						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCTGGGGGGCAGGGGGCCCAGG	0.668									Hermansky-Pudlak syndrome			
PPRC1	23082	broad.mit.edu	37	10	103908248	103908248	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:103908247_103908247TC>T	uc001kum.3	+	9	4558	c.4519_4519TC>T	c.(4519-4521)tccfs	p.S1507fs	PPRC1_uc001kun.3_Frame_Shift_Del_p.S1387fs|PPRC1_uc010qqj.2_Frame_Shift_Del_p.S1243fs|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1507	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ACGATCCCCATCCCCCCGCCG	0.557												
GPAM	57678	broad.mit.edu	37	10	113919769	113919769	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:113919768_113919768AC>A	uc009xxy.2	-	16	2013	c.1803_1803GT>T	c.(1801-1803)ggtfs	p.G601fs	GPAM_uc001kzp.3_Frame_Shift_Del_p.G601fs|GPAM_uc001kzq.1_Frame_Shift_Del_p.G601fs	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	601					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGCTAGTGGGACCCCCCAGTC	0.527												
IKZF5	64376	broad.mit.edu	37	10	124758127	124758128	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr10:124758126_124758127G>GT	uc001lha.2	-	2	314_315	c.15_16C>AC	c.(13-18)aaaccafs	p.K5fs		NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	Homo sapiens IKAROS family zinc finger 5 (Pegasus) (IKZF5), mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		AAAGGCTCTGGTTTTTTTTCAC	0.371												
MTG1	92170	broad.mit.edu	37	10	135233645	135233645	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	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												
MUC6	4588	broad.mit.edu	37	11	1027310	1027319	+	Frame_Shift_Del	DEL	AACTTGTAAC	AACTTGTAAC	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:1027309_1027318GAACTTGTAAC>G	uc001lsw.2	-	16	2232_2241	c.2181_2190GTTACAAGTTC>C	c.(2179-2190)ggttacaagttcfs	p.G727fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	727					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		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)		CGGCCAGGATGAACTTGTAACCCTCCAGTA	0.662												
CCKBR	887	broad.mit.edu	37	11	6292399	6292400	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:6292398_6292399C>CA	uc001mcp.3	+	4	1224_1225	c.969_970C>CA	c.(967-972)gccaagfs	p.A323fs	CCKBR_uc001mcq.3_Frame_Shift_Ins_p.A251fs|CCKBR_uc001mcr.3_Frame_Shift_Ins_p.A323fs|CCKBR_uc001mcs.3_Frame_Shift_Ins_p.A392fs|CCKBR_uc001mct.1_Non-coding_Transcript	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	323					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			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		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)	CCACCCAGGCCAAGCTGCTGGC	0.624												
CYB5R2	51700	broad.mit.edu	37	11	7689748	7689748	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:7689747_7689747GT>G	uc001mfm.3	-	5	672	c.434_434AC>C	c.(433-435)acafs	p.T145fs	CYB5R2_uc001mfn.3_Non-coding_Transcript|CYB5R2_uc009yfk.3_Frame_Shift_Del_p.T145fs|CYB5R2_uc009yfl.1_3'UTR	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.	145					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCGGCCAGTGTTTTTTTAGG	0.522												
AMPD3	272	broad.mit.edu	37	11	10527420	10527420	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:10527419_10527419CT>C	uc001min.1	+	14	2664	c.2319_2319CT>C	c.(2317-2319)gccfs	p.A773fs	AMPD3_uc010rbz.1_Frame_Shift_Del_p.A605fs|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Frame_Shift_Del_p.A764fs|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Frame_Shift_Del_p.A771fs|AMPD3_uc009yfy.2_Frame_Shift_Del_p.A764fs	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	764					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.A773S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGATCACCGCCTTGACCAACT	0.433												
SPTY2D1	144108	broad.mit.edu	37	11	18638501	18638501	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:18638500_18638500CT>C	uc001moy.3	-	1	313	c.97_97AG>G	c.(97-99)gacfs	p.D33fs	SPTY2D1_uc010rdi.1_Frame_Shift_Del_p.D33fs	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	33										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						ACTTTTGGGTCTTTTTTTGGA	0.343												
AMBRA1	55626	broad.mit.edu	37	11	46419038	46419039	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:46419037_46419038T>TC	uc001ncv.2	-	19	4182_4183	c.3868_3869A>GA	c.(3868-3870)gacfs	p.D1290fs	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Frame_Shift_Ins_p.D1258fs|AMBRA1_uc001ncu.1_Frame_Shift_Ins_p.D1197fs|AMBRA1_uc010rgu.1_Frame_Shift_Ins_p.D1287fs|AMBRA1_uc001ncw.2_Frame_Shift_Ins_p.D1168fs|AMBRA1_uc001ncx.2_Frame_Shift_Ins_p.D1227fs	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1287					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCCTGCAGCGTCCCCCCTGCTG	0.599												
OR9G4	283189	broad.mit.edu	37	11	56510933	56510933	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:56510932_56510932GA>G	uc010rjo.2	-	0	356	c.356_356TC>C	c.(355-357)tccfs	p.S119fs		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TACAACACAGGAAAAAAACAG	0.478												
TNKS1BP1	85456	broad.mit.edu	37	11	57076427	57076428	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:57076426_57076427ACT>A	uc001njr.3	-	4	4070_4071	c.3758_3759AGT>T	c.(3757-3759)agtfs	p.S1253fs	TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.S1253fs|TNKS1BP1_uc009ymd.1_Frame_Shift_Del_p.S704fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1253	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCCCCACGCCACTCTCTCTGGC	0.579												
ZDHHC5	25921	broad.mit.edu	37	11	57464258	57464258	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:57464257_57464257GC>G	uc001nkx.1	+	9	2290	c.1034_1034GC>G	c.(1033-1035)agcfs	p.S345fs	ZDHHC5_uc001nky.1_Frame_Shift_Del_p.S292fs|ZDHHC5_uc001nkz.1_Frame_Shift_Del_p.S159fs	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	345						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAAGGACAGCCCCCCGACA	0.512												
MYEOV	26579	broad.mit.edu	37	11	69063724	69063724	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:69063723_69063723TG>T	uc001oov.3	+	2	1256	c.806_806TG>T	c.(805-807)ctgfs	p.L269fs	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Frame_Shift_Del_p.L269fs|MYEOV_uc001oow.3_Frame_Shift_Del_p.L211fs	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	269										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GTTGAGGCCCTGGGGGGGTGG	0.677												
NADSYN1	55191	broad.mit.edu	37	11	71193946	71193947	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:71193945_71193946A>AC	uc001oqn.3	+	13	1327_1328	c.1201_1202A>AC	c.(1201-1203)accfs	p.T401fs	NADSYN1_uc001oqo.3_Frame_Shift_Ins_p.T141fs|NADSYN1_uc001oqp.3_Frame_Shift_Ins_p.T30fs	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	401	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding	p.T401A(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GATCAGCTACACCCCCCAGGAT	0.579												
AMOTL1	154810	broad.mit.edu	37	11	94533351	94533351	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:94533350_94533350CT>C	uc001pfb.3	+	2	1164	c.994_994CT>C	c.(994-996)cttfs	p.L332fs	AMOTL1_uc001pfc.3_Frame_Shift_Del_p.L282fs	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	332						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GGAGCACGGACTTTTTTATGG	0.587												
MLL	4297	broad.mit.edu	37	11	118391565	118391565	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:118391564_118391564TA>T	uc001pta.3	+	33	11491	c.11468_11468TA>T	c.(11467-11469)ttafs	p.L3823fs	MLL_uc001ptb.3_Frame_Shift_Del_p.L3826fs	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3823					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			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	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)		TTCCGGCACTTAAAAAAGACT	0.373			"""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"""							
C1QTNF5	114902	broad.mit.edu	37	11	119216273	119216274	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr11:119216272_119216273T>TG	uc010rzg.1	-	4	658_659	c.498_499A>CA	c.(496-501)cccaacfs	p.P166fs	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	166	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CAGTGGGTGTTGGGGGGGTAAG	0.564												
WNK1	65125	broad.mit.edu	37	12	1017928	1017929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:1017927_1017928A>AC	uc021qss.1	+	27	8541_8542	c.7898_7899A>AC	c.(7897-7899)aacfs	p.N2633fs	WNK1_uc001qio.4_Frame_Shift_Ins_p.N2373fs|WNK1_uc021qst.1_Frame_Shift_Ins_p.N2625fs|WNK1_uc001qip.4_Frame_Shift_Ins_p.N2125fs|WNK1_uc001qir.4_Frame_Shift_Ins_p.N1546fs	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	2373					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCATCAGCAACCCCCCAGGCT	0.559												
C3AR1	719	broad.mit.edu	37	12	8212678	8212678	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:8212677_8212677TA>T	uc001qtv.1	-	1	197	c.105_105TA>A	c.(103-105)ttafs	p.L35fs	C3AR1_uc021quj.1_Frame_Shift_Del_p.L35fs	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	35					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GCAATCCCAGTAAAAAAGTAA	0.527												
PIK3C2G	5288	broad.mit.edu	37	12	18491390	18491390	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:18491389_18491389TA>T	uc001rdt.3	+	8	1418	c.1302_1302TA>T	c.(1300-1302)gttfs	p.V434fs	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Frame_Shift_Del_p.V434fs|PIK3C2G_uc010sic.2_Frame_Shift_Del_p.V212fs	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	434					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTGAAGAAGTTAAAAAAATAT	0.308												
GXYLT1	283464	broad.mit.edu	37	12	42499816	42499817	+	Frame_Shift_Ins	INS	-	-	A	rs78939583		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:42499815_42499816T>TA	uc001rms.4	-	4	893_894	c.668_669A>TA	c.(667-669)ttafs	p.L223fs	GXYLT1_uc001rmt.4_Frame_Shift_Ins_p.L192fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	223					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CAACTGGTCGTAAAAAAAGGAT	0.327												
MLL2	8085	broad.mit.edu	37	12	49435199	49435200	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:49435198_49435199C>CG	uc001rta.4	-	30	6354_6355	c.6354_6355G>CG	c.(6352-6357)cccgctfs	p.P2118fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2118	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.A2119fs*36(1)|p.A1849fs*36(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGGCAGCAGCGGGGGGCGGGC	0.688			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
TENC1	23371	broad.mit.edu	37	12	53453311	53453312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:53453310_53453311T>TC	uc001sbp.3	+	17	2020_2021	c.1885_1886T>TC	c.(1885-1887)tccfs	p.S629fs	TENC1_uc001sbl.3_Frame_Shift_Ins_p.S505fs|TENC1_uc001sbn.3_Frame_Shift_Ins_p.S639fs|TENC1_uc001sbq.3_Frame_Shift_Ins_p.S124fs|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Frame_Shift_Ins_p.S124fs	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	629					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTATGAGGGATCCCCCCAGGGC	0.673												
RARG	5916	broad.mit.edu	37	12	53621285	53621285	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:53621284_53621284GC>G	uc001scf.3	-	2	538	c.46_46GC>C	c.(46-48)cctfs	p.P16fs	RARG_uc001scg.3_Intron|RARG_uc010soc.2_Intron|RARG_uc001sce.3_Frame_Shift_Del_p.P16fs	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	16	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCAGATCCAGGCCCCAGGGCA	0.662												
PDE1B	5153	broad.mit.edu	37	12	54971060	54971061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:54971059_54971060G>GC	uc001sgd.2	+	14	1951_1952	c.1558_1559G>GC	c.(1558-1560)gccfs	p.A520fs	PDE1B_uc010soz.2_Frame_Shift_Ins_p.A383fs|PDE1B_uc010spa.1_Frame_Shift_Ins_p.A479fs|PDE1B_uc001sge.3_Frame_Shift_Ins_p.A500fs|PDE1B_uc001sgf.3_Frame_Shift_Ins_p.A383fs|PDE1B_uc009znq.3_Frame_Shift_Ins_p.A316fs	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATCC	0.559												
ITGA7	3679	broad.mit.edu	37	12	56078934	56078934	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:56078933_56078933CG>C	uc001shh.3	-	24	3555	c.3335_3335CG>G	c.(3334-3336)cggfs	p.R1112fs	ITGA7_uc001shg.3_Frame_Shift_Del_p.R1108fs|ITGA7_uc010sps.2_Frame_Shift_Del_p.R1015fs|ITGA7_uc001shf.3_3'UTR|ITGA7_uc009znw.3_Frame_Shift_Del_p.R355fs|ITGA7_uc009znx.3_Frame_Shift_Del_p.R989fs	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	1152					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.P1112S(1)|p.G1111G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCCTCCCGCCGGGGGCTGCC	0.667												
MBD6	114785	broad.mit.edu	37	12	57921401	57921401	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:57921400_57921400AC>A	uc001soj.1	+	7	2417	c.2193_2193AC>A	c.(2191-2193)agafs	p.R731fs	MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	731	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACTCAGGGAGACCCCCCCAAC	0.602												
B4GALNT1	2583	broad.mit.edu	37	12	58025103	58025104	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:58025102_58025103G>GC	uc001spg.1	-	2	695_696	c.263_264C>GC	c.(262-264)ggcfs	p.G88fs	B4GALNT1_uc010sru.2_Intron|B4GALNT1_uc010srv.2_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc001spi.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_uc010srw.1_Frame_Shift_Ins_p.G165fs	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589												
NAV3	89795	broad.mit.edu	37	12	78400806	78400806	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:78400805_78400805CA>C	uc001syp.3	+	7	1660	c.1487_1487CA>C	c.(1486-1488)ccafs	p.P496fs	NAV3_uc001syo.3_Frame_Shift_Del_p.P496fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	496						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.A495P(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAGATGGCTCCAAAAAAGACC	0.413										HNSCC(70;0.22)		
NAV3	89795	broad.mit.edu	37	12	78513063	78513063	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:78513062_78513062TA>T	uc001syp.3	+	14	3259	c.3086_3086TA>T	c.(3085-3087)ctafs	p.L1029fs	NAV3_uc001syo.3_Frame_Shift_Del_p.L1029fs|NAV3_uc010sub.2_Frame_Shift_Del_p.L529fs|NAV3_uc009zsf.3_Frame_Shift_Del_p.L37fs	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1029						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.L1029Q(2)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAGCTCCCCTAAAAGGATCA	0.438										HNSCC(70;0.22)		
APAF1	317	broad.mit.edu	37	12	99071207	99071208	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:99071206_99071207C>CA	uc001tfz.3	+	12	2374_2375	c.1797_1798C>CA	c.(1795-1800)aacaaafs	p.N599fs	APAF1_uc001tfy.3_Frame_Shift_Ins_p.N588fs|APAF1_uc001tga.3_Frame_Shift_Ins_p.N588fs|APAF1_uc001tgb.3_Frame_Shift_Ins_p.N599fs|APAF1_uc001tgc.3_Intron|APAF1_uc009zto.3_Frame_Shift_Ins_p.N8fs	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	599					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding	p.N602fs*23(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TATTTAGAAACAAAAAAAACAT	0.347												
MVK	4598	broad.mit.edu	37	12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-	rs104895373		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:110019239_110019239GC>G	uc001toy.4	+	4	595	c.411_411GC>G	c.(409-411)ctgfs	p.L137fs	MVK_uc009zvk.3_Frame_Shift_Del_p.L137fs|MVK_uc010sxr.2_Intron|MVK_uc001toz.4_Intron|MVK_uc021rdo.1_Frame_Shift_Del_p.L137fs|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	137					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGTCGGAGCTGCCCCCCGGGG	0.662												
KSR2	283455	broad.mit.edu	37	12	117977605	117977605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:117977604_117977604AG>A	uc001two.2	-	9	1575	c.1520_1520CT>T	c.(1519-1521)ctcfs	p.L507fs		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGC	0.637												
B3GNT4	79369	broad.mit.edu	37	12	122691036	122691037	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:122691035_122691036CCA>C	uc001ubx.3	+	2	455_456	c.237_238CCA>C	c.(235-240)aaccacfs	p.N79fs	B3GNT4_uc001uby.3_Frame_Shift_Del_p.N54fs	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	79					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GTCCACCCAACCACACAGTGTC	0.614												
SBNO1	55206	broad.mit.edu	37	12	123794283	123794284	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr12:123794282_123794283A>AT	uc010tap.2	-	24	3416_3417	c.3416_3417T>AT	c.(3415-3417)aatfs	p.N1139fs	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Frame_Shift_Ins_p.N1138fs|SBNO1_uc010taq.2_Frame_Shift_Ins_p.N90fs|SBNO1_uc001ues.1_Frame_Shift_Ins_p.N90fs	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1139							ATP binding|DNA binding|hydrolase activity	p.N1138fs*9(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CATATCTTCCATTTTTTTTGGC	0.386												
PSPC1	55269	broad.mit.edu	37	13	20304380	20304380	+	Splice_Site	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:20304379_20304379AT>A	uc021rgx.1	-	7	1295	c.1158_splice	c.e7+1	p.N386_splice		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GTTTACTTACATTTTCCATGT	0.373												
FGF9	2254	broad.mit.edu	37	13	22246178	22246178	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:22246177_22246177AG>A	uc001uog.2	+	0	963	c.126_126AG>A	c.(124-126)gcafs	p.A42fs		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	42					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		AGTCCGAAGCAGGGGGGCTCC	0.562												
WASF3	10810	broad.mit.edu	37	13	27255387	27255388	+	Frame_Shift_Ins	INS	-	-	C	rs141429361		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:27255386_27255387G>GC	uc001uqv.3	+	7	1137_1138	c.912_913G>GC	c.(910-915)ccgcccfs	p.P304fs	WASF3_uc001uqw.3_Frame_Shift_Ins_p.P301fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	304	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCAGCAGCCGCCCCCCCCGCC	0.678												
USP12	219333	broad.mit.edu	37	13	27664270	27664270	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:27664269_27664269TA>T	uc001uqy.3	-	4	857	c.600_600TA>A	c.(598-600)ttafs	p.L200fs		NM_182488	NP_872294	O75317	UBP12_HUMAN	Homo sapiens ubiquitin specific peptidase 12 (USP12), mRNA.	200					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CAGAAAGGTCTAAAAAATCTT	0.274												
MTUS2	23281	broad.mit.edu	37	13	29600552	29600552	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:29600551_29600551AC>A	uc001usl.4	+	0	1804	c.1746_1746AC>A	c.(1744-1746)ccafs	p.P582fs		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	572						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGGTAGTTCCACCCCCTACTG	0.532												
B3GALTL	145173	broad.mit.edu	37	13	31803392	31803393	+	Frame_Shift_Ins	INS	-	-	A	rs141154947		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:31803391_31803392T>TA	uc010aaz.3	+	3	340_341	c.230_231T>TA	c.(229-231)ttafs	p.L77fs		NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	Homo sapiens beta 1,3-galactosyltransferase-like (B3GALTL), mRNA.	77					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		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)		GCAGAGCAGTTAAAAAAAAGCA	0.371												
BRCA2	675	broad.mit.edu	37	13	32911322	32911322	+	Frame_Shift_Del	DEL	A	A	-	rs80359356		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:32911321_32911321TA>T	uc001uub.1	+	10	3056	c.2829_2829TA>T	c.(2827-2829)attfs	p.I943fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	943	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGTGTCAATTAAAAAAGATT	0.348			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
EPSTI1	94240	broad.mit.edu	37	13	43537414	43537414	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:43537413_43537413AT>A	uc001uyw.1	-	4	543	c.467_467AT>T	c.(466-468)atgfs	p.M156fs	EPSTI1_uc001uyx.1_Frame_Shift_Del_p.M156fs	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	156										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		AATTGCCTTCATTTTTTGGAG	0.328												
ZC3H13	23091	broad.mit.edu	37	13	46543661	46543661	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:46543660_46543660GT>G	uc010tfw.1	-	12	3025	c.3019_3019AC>C	c.(3019-3021)cgtfs	p.R1007fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Del_p.R1007fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.R1007fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1007	Lys-rich.						nucleic acid binding|zinc ion binding	p.R1007fs*2(2)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		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)		GATTTTTTACGTTTTTTTTCA	0.373												
SLC15A1	6564	broad.mit.edu	37	13	99364825	99364826	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:99364824_99364825A>AT	uc001vno.3	-	9	814_815	c.737_738T>AT	c.(736-738)aatfs	p.N246fs		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	246					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GCCTAAATCTATTTTTGATGGC	0.411												
CLYBL	171425	broad.mit.edu	37	13	100517133	100517134	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:100517132_100517133G>GT	uc001vok.3	+	4	632_633	c.601_602G>GT	c.(601-603)gttfs	p.V201fs	CLYBL_uc010tix.2_Frame_Shift_Ins_p.V201fs|CLYBL_uc010tiy.2_Frame_Shift_Ins_p.V167fs	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	201					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGATGCAGTCGTTTTTGGAGGA	0.436												
COL4A1	1282	broad.mit.edu	37	13	110831696	110831696	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:110831695_110831695TC>T	uc001vqw.4	-	29	2389	c.2267_2267GA>A	c.(2266-2268)gagfs	p.E756fs		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	756	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCTCCCCTTCTCCCCGGGTGT	0.582												
GAS6	2621	broad.mit.edu	37	13	114542718	114542719	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr13:114542717_114542718G>GC	uc001vud.3	-	4	602_603	c.449_450C>GC	c.(448-450)ggcfs	p.G150fs	FLJ41484_uc010tki.2_5'Flank	NM_000820	NP_001137417	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA.	150	EGF-like 1; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CGCAGAGCCGGCCCCCCCAGCC	0.649												
RNASE9	390443	broad.mit.edu	37	14	21025106	21025106	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:21025105_21025105CT>C	uc010ahp.3	-	4	394	c.139_139AG>G	c.(139-141)gaafs	p.E47fs	RNASE9_uc010aho.3_Frame_Shift_Del_p.E42fs|RNASE9_uc001vxq.4_Frame_Shift_Del_p.E47fs|RNASE9_uc010ahq.3_Frame_Shift_Del_p.E47fs|RNASE9_uc010ahr.3_Frame_Shift_Del_p.E47fs|RNASE9_uc010ahs.3_Frame_Shift_Del_p.E42fs|RNASE9_uc010aht.3_Frame_Shift_Del_p.E42fs|RNASE9_uc010ahu.3_Frame_Shift_Del_p.E42fs|RNASE9_uc021rnt.1_Frame_Shift_Del_p.E42fs	NM_001110359	NP_001103827	P60153	RNAS9_HUMAN	Homo sapiens ribonuclease, RNase A family, 9 (non-active) (RNASE9), transcript variant 1, mRNA.	42						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TCAAATTCTTCTTTTTTATCT	0.438												
STRN3	29966	broad.mit.edu	37	14	31381213	31381213	+	Splice_Site	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:31381212_31381212CT>C	uc001wqu.2	-	11	1766	c.1550_splice	c.e11+1	p.K517_splice	STRN3_uc001wqv.2_Splice_Site_p.K433_splice|STRN3_uc010tpj.1_Splice_Site	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	517					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AAAATACTTGCTTTTTGGCAG	0.378												
ARHGAP5	394	broad.mit.edu	37	14	32560445	32560445	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:32560444_32560444CA>C	uc001wrl.3	+	1	808	c.569_569CA>C	c.(568-570)tcafs	p.S190fs	ARHGAP5_uc001wrm.3_Frame_Shift_Del_p.S190fs|ARHGAP5_uc001wrn.3_Frame_Shift_Del_p.S190fs|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	190					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTATCAAAATCAAAAAAACCT	0.308												
SRP54	6729	broad.mit.edu	37	14	35497356	35497356	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:35497355_35497355CA>C	uc001wso.3	+	14	1740	c.1389_1389CA>C	c.(1387-1389)gccfs	p.A463fs	SRP54_uc010tpp.2_Frame_Shift_Del_p.A414fs|SRP54_uc010tpq.2_Frame_Shift_Del_p.A399fs	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	463	M-domain.				GTP catabolic process|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation|response to drug	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|GDP binding|GTP binding|drug binding|endoplasmic reticulum signal peptide binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AACAAATGGCCAAAATGATGG	0.388												
OTX2	5015	broad.mit.edu	37	14	57271049	57271049	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:57271048_57271048CG>C	uc001xcq.3	-	3	405	c.131_131CG>G	c.(130-132)cggfs	p.R44fs	OTX2_uc001xcp.3_Frame_Shift_Del_p.R36fs|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Frame_Shift_Del_p.R36fs	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	36					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding	p.R44fs*52(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCGCTGTTTCCGGGGGGTGGC	0.632												
SLC38A6	145389	broad.mit.edu	37	14	61518564	61518564	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:61518563_61518563AT>A	uc001xfh.2	+	13	1273	c.1109_1109AT>A	c.(1108-1110)catfs	p.H370fs	SLC38A6_uc001xfg.2_Frame_Shift_Del_p.H370fs|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_Frame_Shift_Del_p.H347fs	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN	Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.	370					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGGATTCGCCATTTTTTGATC	0.328												
PPP2R5E	5529	broad.mit.edu	37	14	63881885	63881885	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:63881884_63881884AT>A	uc001xgd.1	-	4	1113	c.523_523AT>T	c.(523-525)tatfs	p.Y175fs	PPP2R5E_uc010tsf.1_Frame_Shift_Del_p.Y99fs|PPP2R5E_uc010tsg.1_Frame_Shift_Del_p.Y99fs|PPP2R5E_uc010tsh.1_Frame_Shift_Del_p.Y175fs|PPP2R5E_uc001xge.2_Frame_Shift_Del_p.Y175fs|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	175					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TGATCTATATATTTTTTGGCA	0.289												
SYNE2	23224	broad.mit.edu	37	14	64586330	64586330	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:64586329_64586329TA>T	uc001xgl.3	+	67	13253	c.13023_splice	c.e67+2	p.Q4341_splice	SYNE2_uc001xgm.3_Splice_Site_p.Q4341_splice|SYNE2_uc021ruh.1_Splice_Site_p.Q4356_splice|SYNE2_uc010apy.3_Splice_Site_p.Q726_splice|SYNE2_uc010apz.1_Splice_Site_p.Q233_splice	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4341					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGATCAGGTAAAAAATGAC	0.423												
SYNE2	23224	broad.mit.edu	37	14	64608081	64608082	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:64608080_64608081G>GA	uc001xgl.3	+	80	15228_15229	c.14998_14999G>GA	c.(14998-15000)gaafs	p.E5000fs	SYNE2_uc001xgm.3_Frame_Shift_Ins_p.E5000fs|SYNE2_uc010apy.3_Frame_Shift_Ins_p.E1385fs|SYNE2_uc001xgn.3_5'UTR|SYNE2_uc021rui.1_5'UTR|SYNE2_uc001xgo.3_Non-coding_Transcript	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5000					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAAGTTGATGAAAAATCCTCC	0.361												
RPS6KL1	83694	broad.mit.edu	37	14	75373751	75373751	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:75373750_75373750GA>G	uc010tux.2	-	10	2145	c.1617_1617TC>C	c.(1615-1617)ttcfs	p.F539fs	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc001xqx.1_3'UTR|RPS6KL1_uc021rwp.1_Frame_Shift_Del_p.F508fs	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	539	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GGATGGTACTGAAAAAGGGAT	0.612												
FOXN3	1112	broad.mit.edu	37	14	89878534	89878534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr14:89878533_89878533TG>T	uc001xxo.4	-	1	425	c.288_288CA>A	c.(286-288)ccafs	p.P96fs	FOXN3_uc001xxn.4_Frame_Shift_Del_p.P96fs|FOXN3_uc010atk.3_Frame_Shift_Del_p.P96fs|FOXN3_uc001xxp.2_Frame_Shift_Del_p.P96fs	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	96					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P96fs*42(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGCAGGGGATGGGGGGGTGT	0.587												
OR4M2	390538	broad.mit.edu	37	15	22369024	22369025	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:22369023_22369024A>AG	uc010tzu.2	+	0	546_547	c.448_449A>AG	c.(448-450)aggfs	p.R150fs	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(4)|p.R150W(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500												
GABRG3	2567	broad.mit.edu	37	15	27571974	27571974	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:27571973_27571973AT>A	uc001zbg.2	+	3	542	c.288_288AT>A	c.(286-288)atafs	p.I96fs	GABRG3_uc001zbf.3_Frame_Shift_Del_p.I96fs	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	96					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AAATTGACATATTTTTTGCTC	0.388												
AQR	9716	broad.mit.edu	37	15	35224524	35224524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:35224523_35224523GA>G	uc001ziv.3	-	10	1077	c.896_896TC>C	c.(895-897)tccfs	p.S299fs		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	299						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		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)		ATTCACCTGGGAAAAAAGATG	0.398												
AQR	9716	broad.mit.edu	37	15	35240588	35240588	+	Splice_Site	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:35240587_35240587TG>T	uc001ziv.3	-	5	391	c.210_splice	c.e5-1	p.S70_splice		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	70						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		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)		AGATACTGGCTGTAAAGAGTA	0.333												
ZNF770	54989	broad.mit.edu	37	15	35274383	35274384	+	Frame_Shift_Ins	INS	-	-	T	rs148617355		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:35274382_35274383A>AT	uc001ziw.3	-	2	1607_1608	c.1253_1254T>AT	c.(1252-1254)aatfs	p.N418fs	ZNF770_uc021siy.1_Frame_Shift_Ins_p.N418fs	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TGCCTTTCAAATTTTTTCCCAT	0.332												
MEIS2	4212	broad.mit.edu	37	15	37390309	37390309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:37390308_37390308CG>C	uc001zjr.3	-	1	1179	c.105_105CG>G	c.(103-105)ccgfs	p.P35fs	MEIS2_uc001zjl.3_Frame_Shift_Del_p.P22fs|MEIS2_uc010ucj.2_Frame_Shift_Del_p.P22fs|MEIS2_uc001zjm.3_5'UTR|MEIS2_uc001zjn.3_5'UTR|MEIS2_uc001zjo.3_Frame_Shift_Del_p.P35fs|MEIS2_uc001zjp.3_Frame_Shift_Del_p.P35fs|MEIS2_uc001zjs.3_Frame_Shift_Del_p.P35fs|MEIS2_uc001zju.3_Frame_Shift_Del_p.P22fs|MEIS2_uc001zjt.3_Frame_Shift_Del_p.P35fs	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	35					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGTGGTGAACCGGGGGGATCG	0.677												
C15orf52	388115	broad.mit.edu	37	15	40631782	40631782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:40631781_40631781TC>T	uc001zlh.4	-	2	311	c.295_295GA>A	c.(295-297)atgfs	p.M99fs	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	99								p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GTCACAGCCATCCCCCCCTGC	0.647												
ZFYVE19	84936	broad.mit.edu	37	15	41105094	41105095	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:41105093_41105094CGA>C	uc001zmt.1	+	6	1537_1538	c.1023_1024CGA>C	c.(1021-1026)cccgagfs	p.P341fs	ZFYVE19_uc001zmu.1_Intron|ZFYVE19_uc001zmv.1_Frame_Shift_Del_p.P166fs	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA.	341							zinc ion binding	p.P341P(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GACAGGACCCCGAGAGAGGTGA	0.634												
MAP1A	4130	broad.mit.edu	37	15	43820775	43820775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:43820774_43820774AC>A	uc001zrt.3	+	3	7570	c.7103_7103AC>A	c.(7102-7104)aacfs	p.N2368fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2368						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACCAGCCCTAACCCCCCAGGC	0.637												
ADAMTS7	11173	broad.mit.edu	37	15	79066978	79066978	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:79066977_79066977AC>A	uc002bej.4	-	11	2076	c.1865_1865GT>T	c.(1864-1866)gtgfs	p.V622fs	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Frame_Shift_Del_p.V622fs	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	622	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTCATTGACCACGGGCACCCA	0.642												
MEX3B	84206	broad.mit.edu	37	15	82336383	82336383	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr15:82336382_82336382CG>C	uc002bgq.1	-	1	1144	c.829_829CG>G	c.(829-831)ggcfs	p.G277fs		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	Homo sapiens mex-3 homolog B (C. elegans) (MEX3B), mRNA.	277					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	RNA binding|calcium ion binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GGCTTGCGGCCGGGGGTGGGC	0.662												
NTHL1	4913	broad.mit.edu	37	16	2096133	2096133	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:2096132_2096132TG>T	uc002col.1	-	1	394	c.375_375CA>A	c.(373-375)ccafs	p.P125fs	TCRBV20S1_uc021tak.1_Intron	NM_002528	NP_002519	P78549	NTHL1_HUMAN	Homo sapiens nth endonuclease III-like 1 (E. coli) (NTHL1), mRNA.	125					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						TGCCTACCTTTGGGGGGGCAC	0.582								Base excision repair (BER), DNA glycosylases				
PPL	5493	broad.mit.edu	37	16	4944500	4944500	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:4944499_4944499TG>T	uc002cyd.1	-	11	1453	c.1363_1363CA>A	c.(1363-1365)acafs	p.T455fs		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	455					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.T455fs*4(2)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCAGGGTCTGTGGGGGGGATC	0.612												
RBBP6	5930	broad.mit.edu	37	16	24582804	24582804	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:24582803_24582803CA>C	uc002dmh.3	+	17	5456	c.4416_4416CA>C	c.(4414-4416)gacfs	p.D1472fs	RBBP6_uc002dmi.3_Frame_Shift_Del_p.D1438fs|RBBP6_uc010bxr.3_Frame_Shift_Del_p.D632fs|RBBP6_uc002dmk.3_Frame_Shift_Del_p.D1305fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1472	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CCAATAGAGACAAAAAAACTG	0.368												
ATP2A1	487	broad.mit.edu	37	16	28913640	28913641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	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												
PHKB	5257	broad.mit.edu	37	16	47684785	47684785	+	Frame_Shift_Del	DEL	A	A	-	rs35494330		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:47684784_47684784TA>T	uc002eev.4	+	19	1975	c.1923_1923TA>T	c.(1921-1923)cttfs	p.L641fs	PHKB_uc002eeu.4_Frame_Shift_Del_p.L634fs	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	641					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TGGCAGCCCTTAAAAAAGGAA	0.338												
SLC9A5	6553	broad.mit.edu	37	16	67286519	67286519	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:67286518_67286518AG>A	uc002esm.3	+	1	324	c.261_261AG>A	c.(259-261)ctafs	p.L87fs	SLC9A5_uc010cee.3_5'UTR|SLC9A5_uc010vji.2_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	87					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GCCTGGTGCTAGGGGGAATTG	0.532												
CLEC18A	348174	broad.mit.edu	37	16	70219849	70219850	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:70219848_70219849C>CA	uc002exy.3	+	11	1392_1393	c.1272_1273C>CA	c.(1270-1275)tgcaaafs	p.C424fs	CLEC18A_uc002eyk.3_Frame_Shift_Ins_p.C424fs	NM_182619	NP_872425	A5D8T8	CL18A_HUMAN	Homo sapiens C-type lectin domain family 18, member A (CLEC18A), transcript variant 1, mRNA.	424	C-type lectin.					extracellular region	sugar binding			NS(1)|endometrium(2)|lung(1)|skin(1)	5						ACCAGCGCTGCAAAACCCGAAA	0.589												
MBTPS1	8720	broad.mit.edu	37	16	84103636	84103636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr16:84103635_84103635AT>A	uc002fhi.3	-	13	2293	c.1791_1791AT>T	c.(1789-1791)aatfs	p.N597fs	MBTPS1_uc002fhh.3_Frame_Shift_Del_p.N101fs	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	597					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTTCTGCACCATTTTTTGACT	0.388												
VPS53	55275	broad.mit.edu	37	17	530427	530428	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:530426_530427C>CA	uc010cjo.2	-	9	1108_1109	c.961_962G>TG	c.(961-963)tgcfs	p.C321fs	VPS53_uc002frk.3_5'UTR|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Frame_Shift_Ins_p.C292fs|VPS53_uc002frn.2_Frame_Shift_Ins_p.C321fs|VPS53_uc002fro.2_Frame_Shift_Ins_p.C123fs|VPS53_uc010cjp.1_Intron	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	321					protein transport	Golgi apparatus|endosome membrane				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGTCACATGGCAAAATTCCACC	0.485												
SERPINF1	5176	broad.mit.edu	37	17	1674431	1674432	+	Frame_Shift_Ins	INS	-	-	CC	rs148005190		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:1674430_1674431G>GCC	uc002ftl.3	+	3	548_549	c.391_392G>GCC	c.(391-393)gccfs	p.A131fs		NM_002615	NP_002606	P36955	PEDF_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA.	131					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CACGGTCACTGCCCCCCAGAAG	0.550												
KIAA0664	23277	broad.mit.edu	37	17	2601713	2601713	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:2601712_2601712TC>T	uc002fuy.1	-	9	1411	c.1325_1325GA>A	c.(1324-1326)gacfs	p.D442fs	KIAA0664_uc002fux.1_Frame_Shift_Del_p.D374fs	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	442							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GGCCGCCACGTCCCCCCCGAA	0.622												
WRAP53	55135	broad.mit.edu	37	17	7592173	7592173	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7592172_7592172AG>A	uc010vuh.2	+	1	361	c.206_206AG>A	c.(205-207)gagfs	p.E69fs	WRAP53_uc010vui.2_Frame_Shift_Del_p.E69fs|WRAP53_uc002gip.3_Frame_Shift_Del_p.E69fs|WRAP53_uc002gir.3_Frame_Shift_Del_p.E69fs|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Frame_Shift_Del_p.E69fs|TP53_uc010cni.1_5'Flank|TP53_uc010cnh.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.2_5'Flank|TP53_uc010cnk.1_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	69					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GAGCTACGGGAGGGGGACCCA	0.582												
DNAH2	146754	broad.mit.edu	37	17	7663182	7663183	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:7663181_7663182ATC>A	uc002giu.1	+	15	2724_2725	c.2710_2711ATC>A	c.(2710-2712)atcfs	p.I904fs		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	904	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTTTCCACCATCTCTGTCTTC	0.535												
RAI1	10743	broad.mit.edu	37	17	17698653	17698653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:17698652_17698652AC>A	uc002grm.3	+	2	2859	c.2390_2390AC>A	c.(2389-2391)gacfs	p.D797fs	RAI1_uc002grn.1_Frame_Shift_Del_p.D797fs	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	797						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGGAGGAGGACCCCCCTGGG	0.667												
KIAA0100	9703	broad.mit.edu	37	17	26966334	26966334	+	Splice_Site	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:26966333_26966333CT>C	uc002hbu.3	-	11	1332	c.1229_splice	c.e11+1	p.R410_splice	KIAA0100_uc002hbv.3_Frame_Shift_Del_p.R410fs	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	410						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGACTGACCTTTTTTTCCT	0.433												
EFCAB5	374786	broad.mit.edu	37	17	28382913	28382913	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:28382912_28382912CA>C	uc002het.3	+	10	2393	c.2201_2201CA>C	c.(2200-2202)acafs	p.T734fs	EFCAB5_uc010wbi.1_Frame_Shift_Del_p.T477fs|EFCAB5_uc010wbj.2_Frame_Shift_Del_p.T678fs|EFCAB5_uc010wbk.2_Frame_Shift_Del_p.T391fs|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Frame_Shift_Del_p.T613fs|EFCAB5_uc010csf.3_Frame_Shift_Del_p.T613fs	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	734							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTAGAAACTACAAAAAAGGAA	0.328												
CPD	1362	broad.mit.edu	37	17	28791832	28791832	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:28791831_28791831GA>G	uc002hfb.2	+	20	4199	c.4142_4142GA>G	c.(4141-4143)tgafs	p.*1381fs	CPD_uc010wbo.2_Frame_Shift_Del_p.*1134fs|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	0					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGCAAACATTGAAAAACACAT	0.413												
NF1	4763	broad.mit.edu	37	17	29592336	29592337	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:29592335_29592336A>AT	uc002hgg.3	+	35	5196_5197	c.4813_4814A>AT	c.(4813-4815)attfs	p.I1605fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.I1584fs|NF1_uc002hgi.1_Frame_Shift_Ins_p.I617fs|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1605	CRAL-TRIO.		I -> V (in NF1).		MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.I1605fs*17(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGGAATCCTATTTTTTATTAT	0.327			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
HNF1B	6928	broad.mit.edu	37	17	36059174	36059174	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:36059173_36059173TG>T	uc002hok.4	-	7	1783	c.1562_1562CA>A	c.(1561-1563)cagfs	p.Q521fs	HNF1B_uc021tvu.1_Frame_Shift_Del_p.Q226fs|HNF1B_uc010wdi.2_Frame_Shift_Del_p.Q495fs|HNF1B_uc021tvv.1_Intron|HNF1B_uc021tvw.1_Intron	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTC	0.512												
GPR179	440435	broad.mit.edu	37	17	36485586	36485586	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:36485585_36485585CT>C	uc002hpz.3	-	10	3888	c.3867_3867AG>G	c.(3865-3867)aagfs	p.K1289fs		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1289						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTCCCCTCTCTTTTTTTGGG	0.572												
RAMP2	10266	broad.mit.edu	37	17	40914762	40914762	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:40914761_40914761AC>A	uc002ibg.3	+	3	487	c.419_419AC>A	c.(418-420)gacfs	p.D140fs	LOC100190938_uc002ibe.4_5'Flank|LOC100190938_uc002ibf.4_5'Flank|RAMP2_uc010cyt.3_Frame_Shift_Del_p.D145fs|RAMP2_uc021txv.1_Non-coding_Transcript	NM_005854	NP_005845	O60895	RAMP2_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 2 (RAMP2), mRNA.	140					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	ACCTTCTCTGACCCCCCAGAG	0.547												
HOXB3	3213	broad.mit.edu	37	17	46629396	46629396	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:46629395_46629395CG>C	uc002inn.3	-	0	842	c.442_442CG>G	c.(442-444)ggcfs	p.G148fs	HOXB3_uc010wlm.2_Frame_Shift_Del_p.G75fs|HOXB3_uc010dbf.3_Frame_Shift_Del_p.G148fs|HOXB3_uc010dbg.3_Frame_Shift_Del_p.G148fs|HOXB3_uc002ino.3_Frame_Shift_Del_p.G148fs|HOXB3_uc010wlk.2_Frame_Shift_Del_p.G16fs|HOXB3_uc010wll.2_Frame_Shift_Del_p.G75fs	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	148					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P147T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GTACCTGTGCCGGGGGAGTTG	0.567												
HOXB3	3213	broad.mit.edu	37	17	46629737	46629738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:46629736_46629737T>TG	uc002inn.3	-	0	500_501	c.100_101A>CA	c.(100-102)caafs	p.Q34fs	HOXB3_uc010wlm.2_Intron|HOXB3_uc010dbf.3_Frame_Shift_Ins_p.Q34fs|HOXB3_uc010dbg.3_Frame_Shift_Ins_p.Q34fs|HOXB3_uc002ino.3_Frame_Shift_Ins_p.Q34fs|HOXB3_uc010wlk.2_Intron|HOXB3_uc010wll.2_Intron	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	34					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AAATGGGGGTTGGGGGGGGACA	0.634												
ZNF652	22834	broad.mit.edu	37	17	47394555	47394555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:47394554_47394554CT>C	uc002iov.4	-	1	998	c.534_534AG>G	c.(532-534)aagfs	p.K178fs	ZNF652_uc002iow.3_Frame_Shift_Del_p.K178fs|ZNF652_uc002iou.4_Intron	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	178	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTATCTTCTCCTTTTTCTTCT	0.478												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	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												
CACNA1G	8913	broad.mit.edu	37	17	48704019	48704019	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:48704018_48704018GC>G	uc002irk.1	+	37	7412	c.7040_7040GC>G	c.(7039-7041)ggcfs	p.G2347fs	CACNA1G_uc002irj.1_Frame_Shift_Del_p.G2141fs|CACNA1G_uc002irl.1_Frame_Shift_Del_p.G2231fs|CACNA1G_uc002irm.1_Frame_Shift_Del_p.G2268fs|CACNA1G_uc002irn.1_Frame_Shift_Del_p.G2213fs|CACNA1G_uc002iro.1_Frame_Shift_Del_p.G2220fs|CACNA1G_uc002irp.1_Frame_Shift_Del_p.G2302fs|CACNA1G_uc002irq.1_Frame_Shift_Del_p.G2324fs|CACNA1G_uc002irr.1_Frame_Shift_Del_p.G2254fs|CACNA1G_uc002irs.1_Frame_Shift_Del_p.G2291fs|CACNA1G_uc002irt.1_Frame_Shift_Del_p.G2236fs|CACNA1G_uc002iru.1_Frame_Shift_Del_p.G2313fs|CACNA1G_uc002irv.1_Frame_Shift_Del_p.G2243fs|CACNA1G_uc002irw.1_Frame_Shift_Del_p.G2276fs|CACNA1G_uc002irx.1_Frame_Shift_Del_p.G2088fs|CACNA1G_uc002iry.1_Frame_Shift_Del_p.G2077fs|CACNA1G_uc002isg.1_Frame_Shift_Del_p.G2115fs|CACNA1G_uc002ish.1_Frame_Shift_Del_p.G2122fs|CACNA1G_uc002isi.1_Frame_Shift_Del_p.G2110fs|CACNA1G_uc002irz.1_Frame_Shift_Del_p.G2160fs|CACNA1G_uc002isa.1_Frame_Shift_Del_p.G2133fs|CACNA1G_uc002isd.1_Frame_Shift_Del_p.G2142fs|CACNA1G_uc002isb.1_Frame_Shift_Del_p.G2174fs|CACNA1G_uc002isc.1_Frame_Shift_Del_p.G2249fs|CACNA1G_uc002ise.1_Frame_Shift_Del_p.G2170fs|CACNA1G_uc002isf.1_Frame_Shift_Del_p.G2197fs	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2347					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	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)	TTGGCCTCTGGCCCCCCTGAC	0.657											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIF2B	84643	broad.mit.edu	37	17	51902014	51902014	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:51902013_51902013TA>T	uc002iua.2	+	0	1775	c.1619_1619TA>T	c.(1618-1620)gtafs	p.V540fs	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	540					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.R539R(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAAACAGAGTAAAAAAATTA	0.418												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	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												
LRRC37A3	374819	broad.mit.edu	37	17	62856352	62856353	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:62856351_62856352A>AT	uc002jey.2	-	10	4528_4529	c.3912_3913T>AT	c.(3910-3915)aaatacfs	p.K1304fs	LRRC37A3_uc010wqg.1_Frame_Shift_Ins_p.K422fs|LRRC37A3_uc002jex.1_Frame_Shift_Ins_p.K281fs|LRRC37A3_uc010wqf.1_Frame_Shift_Ins_p.K342fs|LRRC37A3_uc010dek.1_Frame_Shift_Ins_p.K310fs|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1304						integral to membrane		p.K1304fs*11(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGAAAGCGGTATTTTTTTCTGG	0.406												
AXIN2	8313	broad.mit.edu	37	17	63554128	63554128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:63554127_63554127TC>T	uc002jfi.3	-	1	901	c.612_612GA>A	c.(610-612)ggafs	p.G204fs	AXIN2_uc010den.1_Frame_Shift_Del_p.G204fs|AXIN2_uc002jfh.3_Frame_Shift_Del_p.G204fs|AXIN2_uc002jfj.1_Frame_Shift_Del_p.G204fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	204					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CTGTGTTTTCTCCCCCACTCC	0.502									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome			
KIAA0195	9772	broad.mit.edu	37	17	73484878	73484879	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:73484877_73484878T>TCC	uc010wsa.2	+	5	872_873	c.680_681T>TCC	c.(679-681)ttcfs	p.F227fs	KIAA0195_uc002jnz.4_Frame_Shift_Ins_p.F217fs|KIAA0195_uc010wsb.2_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	217					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAGACCTCTTCCCCCCCTTCT	0.644												
KIAA0195	9772	broad.mit.edu	37	17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:73491062_73491062TC>T	uc010wsa.2	+	18	2897	c.2705_2705TC>T	c.(2704-2706)atcfs	p.I902fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	892					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCTCCGAGATCCCCCCCTCC	0.612												
SEC14L1	6397	broad.mit.edu	37	17	75189626	75189627	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:75189625_75189626T>TA	uc010dhc.3	+	5	788_789	c.468_469T>TA	c.(466-471)attaaafs	p.I156fs	SEC14L1_uc021udv.1_Frame_Shift_Ins_p.I156fs|SEC14L1_uc021udw.1_Frame_Shift_Ins_p.I156fs|SEC14L1_uc021udx.1_Frame_Shift_Ins_p.I156fs|SEC14L1_uc002jto.3_Frame_Shift_Ins_p.I156fs|SEC14L1_uc010wth.2_Frame_Shift_Ins_p.I156fs|SEC14L1_uc002jtm.3_Frame_Shift_Ins_p.I156fs|SEC14L1_uc010wti.2_Frame_Shift_Ins_p.I122fs	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	156	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding	p.K157N(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CCAGCAACATTAAAAAAGTGAG	0.396												
ASPSCR1	79058	broad.mit.edu	37	17	79954545	79954545	+	Frame_Shift_Del	DEL	G	G	-	rs8074498	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr17:79954544_79954544TG>T	uc002kcy.3	+	6	852	c.755_755TG>T	c.(754-756)ctgfs	p.L252fs	ASPSCR1_uc002kcx.3_Frame_Shift_Del_p.L252fs|ASPSCR1_uc021ufj.1_Frame_Shift_Del_p.L175fs|ASPSCR1_uc002kda.3_Frame_Shift_Del_p.L175fs|ASPSCR1_uc002kdb.1_Frame_Shift_Del_p.L175fs	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	252			L -> Q (in dbSNP:rs8074498).				protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGACAGAGACTGGGGGGCCCT	0.637			T	TFE3	alveolar soft part sarcoma							
LAMA1	284217	broad.mit.edu	37	18	7016544	7016544	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:7016543_7016543CT>C	uc002knm.3	-	20	3030	c.2936_2936AG>G	c.(2935-2937)aggfs	p.R979fs	LAMA1_uc010wzj.2_Frame_Shift_Del_p.R455fs	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	979	Laminin EGF-like 10.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTGTCACACCTTTTCCCTGC	0.567												
FHOD3	80206	broad.mit.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr18:34205515_34205515AC>A	uc021uiv.1	+	9	1096	c.999_999AC>A	c.(997-999)ccafs	p.P333fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	333	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCACGGAGCCACCCCCCAGTG	0.677												
CCDC94	55702	broad.mit.edu	37	19	4249260	4249261	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:4249259_4249260T>TC	uc002lzv.4	+	1	92_93	c.59_60T>TC	c.(58-60)atcfs	p.I20fs		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	Homo sapiens coiled-coil domain containing 94 (CCDC94), mRNA.	20										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCATCAAAGATCCCCAAACTCA	0.579												
C19orf70	125988	broad.mit.edu	37	19	5679654	5679654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:5679653_5679653CG>C	uc002mch.1	-	1	565	c.151_151CG>G	c.(151-153)gccfs	p.A51fs	C19orf70_uc002mci.1_3'UTR|HSD11B1L_uc002mcj.3_5'Flank|HSD11B1L_uc002mck.3_5'Flank|HSD11B1L_uc002mcu.3_5'Flank|HSD11B1L_uc002mcn.3_5'Flank|HSD11B1L_uc002mco.3_5'Flank|HSD11B1L_uc002mcp.3_5'Flank|HSD11B1L_uc002mcr.3_5'Flank|HSD11B1L_uc002mcq.3_5'Flank|HSD11B1L_uc010dug.3_5'Flank|HSD11B1L_uc002mct.3_5'Flank|HSD11B1L_uc002mcl.3_5'Flank	NM_205767	NP_991330	Q5XKP0	QIL1_HUMAN	Homo sapiens chromosome 19 open reading frame 70 (C19orf70), mRNA.	51							protein binding			endometrium(1)|lung(1)	2						TGGTACATGGCGGGGGGGACC	0.667												
FBN3	84467	broad.mit.edu	37	19	8196625	8196625	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8196624_8196624GC>G	uc002mjf.3	-	13	1821	c.1804_1804GC>C	c.(1804-1806)ctgfs	p.L602fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	602	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTACCGCCAGCCCCCCCAGG	0.677												
KANK3	256949	broad.mit.edu	37	19	8387793	8387793	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:8387792_8387792AG>A	uc010dwa.3	-	10	2463	c.2397_2397CT>T	c.(2395-2397)cctfs	p.P799fs	NDUFA7_uc002mjm.2_5'Flank	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	423										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TCTGGGAGCCAGGGGGTGACT	0.592												
ZNF791	163049	broad.mit.edu	37	19	12739502	12739503	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:12739501_12739502T>TA	uc002mua.2	+	3	1320_1321	c.1158_1159T>TA	c.(1156-1161)tgtaaafs	p.C386fs	ZNF791_uc010xml.1_Frame_Shift_Ins_p.C354fs|ZNF791_uc010dyu.1_Frame_Shift_Ins_p.C277fs|ZNF791_uc010xmm.1_Frame_Shift_Ins_p.C277fs	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K388fs*10(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CCTACGAATGTAAAAAATGTGG	0.361												
FBXW9	84261	broad.mit.edu	37	19	12800974	12800975	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:12800973_12800974G>GC	uc010dyx.2	-	5	894_895	c.894_895C>GC	c.(892-897)gggcctfs	p.G298fs	FBXW9_uc010xmp.2_Intron|AX747991_uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	308							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCCCTCGAAGGCCCCCCCCAGC	0.624												
HOOK2	29911	broad.mit.edu	37	19	12876754	12876754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:12876753_12876753GC>G	uc002muy.2	-	15	1758	c.1587_1587GC>C	c.(1585-1587)ggcfs	p.G529fs	HOOK2_uc002muz.2_Frame_Shift_Del_p.G529fs	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	529	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	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CTTCAGTCTTGCCCCCCTGCT	0.652											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AP1M1	8907	broad.mit.edu	37	19	16314384	16314384	+	Frame_Shift_Del	DEL	G	G	-	rs146546344	byFrequency	TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:16314383_16314383CG>C	uc002ndv.2	+	1	329	c.156_156CG>C	c.(154-156)cacfs	p.H52fs	AP1M1_uc002ndu.2_Frame_Shift_Del_p.H52fs|AP1M1_uc010xpd.1_Frame_Shift_Del_p.H52fs	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	52					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCCTGGCCCACGGGGGGGTCC	0.592												
ZNF43	7594	broad.mit.edu	37	19	21992087	21992087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:21992086_21992086AT>A	uc002nqj.3	-	3	883	c.753_753AT>T	c.(751-753)aatfs	p.N251fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATCTAGTATAATTTTTTTTAT	0.348												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002027	+	Splice_Site	DEL	AA	AA	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:22002025_22002026TAA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACAA	0.386												
ZNF536	9745	broad.mit.edu	37	19	30935465	30935465	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:30935464_30935464AG>A	uc002nsu.1	+	1	1133	c.995_995AG>A	c.(994-996)cagfs	p.Q332fs	ZNF536_uc010edd.1_Frame_Shift_Del_p.Q332fs	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCAGGGCCAGGGCCCCAAC	0.662												
TSHZ3	57616	broad.mit.edu	37	19	31769062	31769062	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:31769061_31769061GC>G	uc002nsy.4	-	1	1703	c.1638_1638GC>C	c.(1636-1638)ggcfs	p.G546fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGC	0.557												
KIRREL2	84063	broad.mit.edu	37	19	36357214	36357214	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:36357213_36357213TC>T	uc002ocb.4	+	14	2158	c.1946_1946TC>T	c.(1945-1947)gtcfs	p.V649fs	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Frame_Shift_Del_p.V611fs|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	649	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCATGGTCCCCCCCTGC	0.627												
RYR1	6261	broad.mit.edu	37	19	38985019	38985021	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:38985018_38985020ATGG>A	uc002oit.3	+	38	6431_6433	c.6301_6303ATGG>A	c.(6301-6303)atg>A	p.M2101del	RYR1_uc002oiu.3_In_Frame_Del_p.M2101del|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2101	6 X approximate repeats.		M -> K.		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.H2100Y(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGTCCCACATGGTGGTGCGCT	0.650												
DLL3	10683	broad.mit.edu	37	19	39998572	39998572	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:39998571_39998571TC>T	uc002olx.2	+	7	1833	c.1775_1775TC>T	c.(1774-1776)ttcfs	p.F592fs	DLL3_uc002olw.2_Intron	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	592					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	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)			ACGCCCCTTTTCCCCCCGCTA	0.552												
TMEM145	284339	broad.mit.edu	37	19	42827893	42827894	+	Frame_Shift_Ins	INS	-	-	G	rs149140216		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42827892_42827893C>CG	uc002otk.1	+	13	1404_1405	c.1352_1353C>CG	c.(1351-1353)tcgfs	p.S451fs	MEGF8_uc002otl.4_5'Flank	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	Homo sapiens transmembrane protein 145 (TMEM145), mRNA.	451						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)				ATCAGCGACTCGGTGCCCAACT	0.678												
LIPE	3991	broad.mit.edu	37	19	42907075	42907075	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:42907074_42907074GT>G	uc002otr.3	-	8	2929	c.2652_2652AC>C	c.(2650-2652)aacfs	p.N884fs	AK311181_uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	884					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	p.G883R(1)|p.N884fs*16(1)		breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				ACGTCTCGGAGTTTCCCCTCA	0.607												
RTN2	6253	broad.mit.edu	37	19	45996513	45996513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:45996512_45996512AG>A	uc002pcb.3	-	4	1169	c.939_939CT>T	c.(937-939)cctfs	p.P313fs	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	313						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGACAGGAGTAGGGGGGGTGG	0.572												
HRC	3270	broad.mit.edu	37	19	49657098	49657098	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:49657097_49657097TG>T	uc002pmv.3	-	0	1585	c.1398_1398CA>A	c.(1396-1398)ccafs	p.P466fs		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	466					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.P466S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		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)		CTGTGTGTCCTGGGGGGTGAT	0.547												
ZNF649	65251	broad.mit.edu	37	19	52394014	52394014	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:52394013_52394013TC>T	uc002pxy.3	-	4	1702	c.1376_1376GA>A	c.(1375-1377)gatfs	p.D459fs	ZNF577_uc010ydd.1_5'Flank|ZNF577_uc002pxx.4_5'Flank|ZNF577_uc002pxv.3_5'Flank|ZNF577_uc002pxw.3_5'Flank|ZNF577_uc010yde.2_5'Flank|ZNF577_uc010ydf.1_Intron	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTCACTGAATCCCCCCGTTT	0.448												
ZNF616	90317	broad.mit.edu	37	19	52620074	52620075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:52620073_52620074T>TG	uc002pym.3	-	3	626_627	c.343_344A>CA	c.(343-345)catfs	p.H115fs	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTGTTTTCATGGGGCACTGGC	0.347												
NLRP8	126205	broad.mit.edu	37	19	56482022	56482022	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr19:56482021_56482021TG>T	uc002qmh.3	+	5	2564	c.2493_2493TG>T	c.(2491-2493)tgtfs	p.C831fs	NLRP8_uc010etg.3_Frame_Shift_Del_p.C831fs	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	831						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGAGAACTGTGGGGCGTATT	0.488												
RALGAPA2	57186	broad.mit.edu	37	20	20453589	20453589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:20453588_20453588CA>C	uc002wrz.3	-	36	5523	c.5380_5380TG>G	c.(5380-5382)gggfs	p.G1794fs	RALGAPA2_uc002wry.3_Frame_Shift_Del_p.G1409fs|RALGAPA2_uc010zsg.2_Frame_Shift_Del_p.G1242fs|RALGAPA2_uc002wsa.1_Frame_Shift_Del_p.G566fs	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1794	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AACAGAGGCCCAAAAAATGGA	0.448												
PAX1	5075	broad.mit.edu	37	20	21689942	21689942	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:21689941_21689941GC>G	uc002wsj.2	+	3	1195	c.1141_1141GC>G	c.(1141-1143)gccfs	p.A381fs	PAX1_uc010zsl.2_Frame_Shift_Del_p.A381fs|PAX1_uc010zsm.2_Frame_Shift_Del_p.A357fs	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	381					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGTGTACAGCGCCCCGGGCGG	0.756												
ENTPD6	955	broad.mit.edu	37	20	25187205	25187205	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:25187204_25187204GA>G	uc002wuj.2	+	1	212	c.32_32GA>G	c.(31-33)agafs	p.R11fs	ENTPD6_uc010zsy.1_Frame_Shift_Del_p.R11fs|ENTPD6_uc010gdj.1_Intron|ENTPD6_uc002wum.2_Intron|ENTPD6_uc010zta.1_Frame_Shift_Del_p.R11fs|ENTPD6_uc002wuk.2_Frame_Shift_Del_p.R11fs|ENTPD6_uc002wul.2_Frame_Shift_Del_p.R11fs|ENTPD6_uc010ztb.1_Intron|ENTPD6_uc010ztc.1_Intron|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010zsz.1_Intron	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	11						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GAAACTTCCAGAAAAACGAGC	0.393												
PIGT	51604	broad.mit.edu	37	20	44050026	44050026	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:44050025_44050025GC>G	uc002xoh.2	+	8	1126	c.1036_1036GC>G	c.(1036-1038)gccfs	p.A346fs	PIGT_uc010ghd.2_Frame_Shift_Del_p.A253fs|PIGT_uc010ghc.2_Non-coding_Transcript|PIGT_uc010ghe.2_Frame_Shift_Del_p.A309fs|PIGT_uc010ghf.2_Frame_Shift_Del_p.A299fs|PIGT_uc010zwz.2_Frame_Shift_Del_p.A84fs|PIGT_uc010zww.2_Frame_Shift_Del_p.A290fs|PIGT_uc010zwy.2_Frame_Shift_Del_p.A244fs|PIGT_uc002xoj.2_Intron|PIGT_uc010zwu.2_Frame_Shift_Del_p.A84fs|PIGT_uc002xoi.2_Non-coding_Transcript|PIGT_uc010zwv.2_Frame_Shift_Del_p.A84fs|PIGT_uc010zwx.2_Frame_Shift_Del_p.A181fs|PIGT_uc010zxa.2_Frame_Shift_Del_p.A184fs|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Frame_Shift_Del_p.A22fs	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class T (PIGT), transcript variant 1, mRNA.	346					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding	p.A346A(1)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGT	0.572												
SALL4	57167	broad.mit.edu	37	20	50400983	50400984	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:50400982_50400983A>AC	uc002xwh.4	-	3	3084_3085	c.2983_2984T>GT	c.(2983-2985)gttfs	p.V995fs	SALL4_uc010gii.3_Frame_Shift_Ins_p.V558fs|SALL4_uc002xwi.4_Frame_Shift_Ins_p.V218fs	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACTC	0.559												
ZNF831	128611	broad.mit.edu	37	20	57766741	57766741	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:57766740_57766740GC>G	uc002yan.3	+	0	666	c.666_666GC>G	c.(664-666)gagfs	p.E222fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	222						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGCCGGAGAGCCCCCCAGAC	0.701												
COL9A3	1299	broad.mit.edu	37	20	61452877	61452878	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr20:61452876_61452877A>AC	uc002ydm.3	+	6	366_367	c.363_364A>AC	c.(361-366)ggacccfs	p.G121fs		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	121	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GCCTCCCTGGACCCCCCGTGAG	0.649												
BACH1	571	broad.mit.edu	37	21	30699050	30699050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:30699049_30699049GA>G	uc002ynk.3	+	2	1147	c.904_904GA>G	c.(904-906)gaafs	p.E302fs	BACH1_uc002ynj.3_Frame_Shift_Del_p.E302fs|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	302						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GTGCCCAACTGAAAAATCAGA	0.398												
KRTAP10-6	386674	broad.mit.edu	37	21	46012220	46012221	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs71199613		TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr21:46012219_46012220C>CGGGGCGCAGCAGCTG	uc002zfm.3	-	0	167_168	c.146_147G>CAGCTGCTGCGCCCCG	c.(145-147)ccg>cCAGCTGCTGCGCCCCG	p.49_49P>PAAAP	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	49	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688												
SMTN	6525	broad.mit.edu	37	22	31487369	31487370	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:31487368_31487369A>AG	uc003ajl.2	+	9	1600_1601	c.1359_1360A>AG	c.(1357-1362)ccagggfs	p.P453fs	SMTN_uc003ajk.2_Frame_Shift_Ins_p.P453fs|SMTN_uc003ajm.2_Frame_Shift_Ins_p.P453fs|SMTN_uc011ale.2_Frame_Shift_Ins_p.P507fs|SMTN_uc011alf.2_Frame_Shift_Ins_p.P509fs|SMTN_uc003ajn.2_Frame_Shift_Ins_p.P445fs|SMTN_uc011alg.2_5'UTR|SMTN_uc003ajo.2_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	453					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTGCCGAGCCAGGGGGCAGTAT	0.673												
TRIOBP	11078	broad.mit.edu	37	22	38121772	38121772	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:38121771_38121771GC>G	uc003atr.3	+	6	3479	c.3208_3208GC>G	c.(3208-3210)gccfs	p.A1070fs	TRIOBP_uc003atu.3_Frame_Shift_Del_p.A898fs|TRIOBP_uc003atq.1_Frame_Shift_Del_p.A1070fs|TRIOBP_uc003ats.1_Frame_Shift_Del_p.A898fs	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1070					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACACCGAGATGCCCCCCGGGC	0.647												
RANGAP1	5905	broad.mit.edu	37	22	41670616	41670618	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:41670615_41670617ACTT>A	uc003azs.3	-	1	1697_1699	c.227_229AAGT>T	c.(226-231)aagtcg>aTcg	p.76_77KS>I	RANGAP1_uc003azt.3_In_Frame_Del_p.76_77KS>I|RANGAP1_uc003azu.3_In_Frame_Del_p.76_77KS>I|RANGAP1_uc011aoz.2_In_Frame_Del_p.66_67KS>I	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	76					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCAACTCCGACTTCTTCTCTAA	0.552												
PHF21B	112885	broad.mit.edu	37	22	45309721	45309721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:45309720_45309720CG>C	uc003bfn.3	-	4	964	c.813_813CG>G	c.(811-813)ccgfs	p.P271fs	PHF21B_uc011aqk.2_Frame_Shift_Del_p.P217fs|PHF21B_uc003bfm.3_Frame_Shift_Del_p.P67fs|PHF21B_uc011aql.2_Frame_Shift_Del_p.P229fs|PHF21B_uc011aqm.1_Frame_Shift_Del_p.P217fs	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	271							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TCTCCTGGGTCGGGGGCCGGT	0.667												
CELSR1	9620	broad.mit.edu	37	22	46765084	46765084	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chr22:46765083_46765083CT>C	uc003bhw.1	-	26	7945	c.7945_7945AG>G	c.(7945-7947)gggfs	p.G2649fs	CELSR1_uc011arc.1_Frame_Shift_Del_p.R1114fs	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2649					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TACACGATCCCTTTTTTCCCA	0.537												
NHSL2	340527	broad.mit.edu	37	X	71360413	71360414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:71360412_71360413C>CA	uc011mqa.2	+	5	3014_3015	c.3014_3015C>CA	c.(3013-3015)ccafs	p.P1005fs	NHSL2_uc004eak.1_Frame_Shift_Ins_p.P639fs|NHSL2_uc010nli.2_Frame_Shift_Ins_p.P774fs	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	1005										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCTCCCGTACCAAAAAAACCCA	0.550												
PNMA5	114824	broad.mit.edu	37	X	152159092	152159093	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MG-01A-11D-A25D-08	TCGA-CD-A4MG-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83a3d81e-2cf8-4c6f-9f46-5b0b5eaceb05	f2395de6-3fc0-48c1-97c8-2500e65c889c	g.chrX:152159091_152159092G>GC	uc022chn.1	-	0	1051_1052	c.1051_1052C>GC	c.(1051-1053)gccfs	p.A351fs	PNMA5_uc010ntx.3_Frame_Shift_Ins_p.A351fs|PNMA5_uc010ntw.3_Frame_Shift_Ins_p.A351fs|PNMA5_uc004fgy.4_Frame_Shift_Ins_p.A351fs|PNMA5_uc022chm.1_Frame_Shift_Ins_p.A351fs	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	351					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCTACCGGAGGCCCCCCGGCCT	0.550