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
ACAP3	116983	broad.mit.edu	37	1	1229851	1229851	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:1229851G>A	uc001aeb.2	-	21	2144	c.2070C>T	c.(2068-2070)CAC>CAT	p.H690H	ACAP3_uc001ady.2_Silent_p.H420H|ACAP3_uc001aea.2_Silent_p.H615H	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	690					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						CCTCGGCCCCGTGGGCCAGCG	0.771												
DVL1	1855	broad.mit.edu	37	1	1273940	1273940	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:1273940C>T	uc001aer.3	-	12	1273	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	DVL1_uc002quu.2_Missense_Mutation_p.R151H|DVL1_uc009vka.2_Missense_Mutation_p.R92H|DVL1_uc001aeu.1_Missense_Mutation_p.R168H	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	434	DEP.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAGCCACATGCGGTCGCGGAT	0.657												
GNB1	2782	broad.mit.edu	37	1	1735886	1735886	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:1735886G>A	uc001aif.2	-	7	734	c.402C>T	c.(400-402)CGC>CGT	p.R134R	GNB1_uc009vky.2_Silent_p.R34R	NM_002074	NP_002065	P62873	GBB1_HUMAN	guanine nucleotide-binding protein, beta-1	134					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity				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;5.62e-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;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CACGACTCACGCGCACGTTCC	0.498												
CHD5	26038	broad.mit.edu	37	1	6189026	6189026	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:6189026C>T	uc001amb.1	-	23	3591	c.3491G>A	c.(3490-3492)CGC>CAC	p.R1164H	CHD5_uc001alz.1_Missense_Mutation_p.R21H|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1164	Helicase C-terminal.				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)		CATCATCTTGCGCTTGGCCAC	0.642												
ACOT7	11332	broad.mit.edu	37	1	6341341	6341341	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:6341341C>T	uc001ams.2	-	8	1022	c.865G>A	c.(865-867)GTC>ATC	p.V289I	ACOT7_uc010nzq.1_Missense_Mutation_p.V174I|ACOT7_uc001amt.2_Missense_Mutation_p.V279I|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Missense_Mutation_p.V238I|ACOT7_uc001amr.2_Missense_Mutation_p.V259I	NM_181864	NP_863654	O00154	BACH_HUMAN	acyl-CoA thioesterase 7 isoform hBACHb	289	Acyl coenzyme A hydrolase 2.					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity				0	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		ATGGTGATGACGCAGCCTGTG	0.632												
CLSTN1	22883	broad.mit.edu	37	1	9804004	9804004	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:9804004G>A	uc001aqh.2	-	9	2053	c.1294C>T	c.(1294-1296)CGT>TGT	p.R432C	CLSTN1_uc001aqi.2_Missense_Mutation_p.R422C|CLSTN1_uc010oag.1_Missense_Mutation_p.R432C	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	432	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GGATCCTGACGGAAGAGGAAG	0.438												
UBE4B	10277	broad.mit.edu	37	1	10197220	10197220	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:10197220C>T	uc001aqs.3	+	17	3033	c.2320C>T	c.(2320-2322)CGT>TGT	p.R774C	UBE4B_uc001aqr.3_Missense_Mutation_p.R645C|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.R229C|UBE4B_uc001aqt.1_Missense_Mutation_p.R114C	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	774					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCCTAGTTGCCGTCGCTATAT	0.532												
PGD	5226	broad.mit.edu	37	1	10477528	10477528	+	Silent	SNP	C	C	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:10477528C>G	uc001arc.2	+	10	1161	c.1071C>G	c.(1069-1071)GGC>GGG	p.G357G	PGD_uc001ard.2_Silent_p.G277G|PGD_uc010oak.1_Silent_p.G335G|PGD_uc010oal.1_Silent_p.G344G	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	357					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		ATTATGGTGGCATCGCCCTGA	0.547												
TNFRSF1B	7133	broad.mit.edu	37	1	12251939	12251939	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:12251939C>T	uc001att.2	+	4	505	c.416C>T	c.(415-417)CCG>CTG	p.P139L	TNFRSF1B_uc001atu.2_5'UTR|TNFRSF1B_uc009vnk.2_RNA	NM_001066	NP_001057	P20333	TNR1B_HUMAN	tumor necrosis factor receptor 2 precursor	139	TNFR-Cys 3.|Extracellular (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)	CTGTGCGCGCCGCTGCGCAAG	0.682												
AGMAT	79814	broad.mit.edu	37	1	15900200	15900200	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:15900200C>T	uc001awv.1	-	7	1148	c.1005G>A	c.(1003-1005)GCG>GCA	p.A335A	DNAJC16_uc001awu.2_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase) precursor	335					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			skin(1)	1		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGTTAGCCGCCAGCAGGG	0.507												
SPEN	23013	broad.mit.edu	37	1	16199481	16199481	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:16199481C>T	uc001axk.1	+	2	458	c.254C>T	c.(253-255)CCG>CTG	p.P85L	SPEN_uc010obp.1_5'Flank	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	85	By similarity.				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)		GGCACCATCCCGAGTGCTGCT	0.502												
CLCNKB	1188	broad.mit.edu	37	1	16375710	16375710	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:16375710C>T	uc001axw.3	+	8	831	c.751C>T	c.(751-753)CGG>TGG	p.R251W	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.R251W|CLCNKB_uc001axy.3_Missense_Mutation_p.R82W	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	251	Helical; (Potential).				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCATGTTCCGGCTCCTGGC	0.622												
ARHGEF10L	55160	broad.mit.edu	37	1	18023430	18023430	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:18023430G>A	uc001ban.2	+	29	3554	c.3395G>A	c.(3394-3396)CGG>CAG	p.R1132Q	ARHGEF10L_uc001bao.2_Missense_Mutation_p.R1093Q|ARHGEF10L_uc001bap.2_Missense_Mutation_p.R1088Q|ARHGEF10L_uc001baq.2_Missense_Mutation_p.R893Q|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.R905Q|ARHGEF10L_uc001bar.2_Missense_Mutation_p.R835Q|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.R156Q	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1132					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GACATCCTGCGGAGTGACCAG	0.657											OREG0013156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ARHGEF10L	55160	broad.mit.edu	37	1	18023576	18023576	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:18023576G>A	uc001ban.2	+	29	3700	c.3541G>A	c.(3541-3543)GCA>ACA	p.A1181T	ARHGEF10L_uc001bao.2_Missense_Mutation_p.A1142T|ARHGEF10L_uc001bap.2_Missense_Mutation_p.A1137T|ARHGEF10L_uc001baq.2_Missense_Mutation_p.A942T|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.A954T|ARHGEF10L_uc001bar.2_Missense_Mutation_p.A884T|ARHGEF10L_uc009vpf.2_RNA|ARHGEF10L_uc001bas.2_Missense_Mutation_p.A205T	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1181					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCGCTCCACCGCACACCTCCC	0.682												
ACTL8	81569	broad.mit.edu	37	1	18149783	18149783	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:18149783G>T	uc001bat.2	+	2	496	c.280G>T	c.(280-282)GAG>TAG	p.E94*		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	actin-like 8	94						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)		ACGGGAGCAAGAGGTCCCCCC	0.617												
HSPG2	3339	broad.mit.edu	37	1	22160048	22160048	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:22160048T>C	uc001bfj.2	-	79	10930	c.10890A>G	c.(10888-10890)TCA>TCG	p.S3630S	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Silent_p.S3631S	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3630	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)	GGGGTCGGACTGAGGGCAGCA	0.627												
HSPG2	3339	broad.mit.edu	37	1	22217179	22217179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:22217179G>A	uc001bfj.2	-	4	293	c.253C>T	c.(253-255)CGA>TGA	p.R85*	HSPG2_uc009vqd.2_Nonsense_Mutation_p.R85*|HSPG2_uc009vqe.1_Intron	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	85	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACCAGGGCTCGGAAATAAACT	0.552												
CELA3B	23436	broad.mit.edu	37	1	22313154	22313154	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:22313154C>T	uc001bfk.2	+	7	888	c.773C>T	c.(772-774)GCC>GTC	p.A258V	CELA3B_uc009vqf.2_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	elastase 3B, pancreatic preproprotein	258	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						CGAGTCTCCGCCTTCATTGAC	0.597												
MYOM3	127294	broad.mit.edu	37	1	24392467	24392467	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:24392467G>A	uc001bin.3	-	29	3611	c.3448C>T	c.(3448-3450)CGC>TGC	p.R1150C	MYOM3_uc001bil.3_Missense_Mutation_p.R43C|MYOM3_uc001bim.3_Missense_Mutation_p.R807C|MYOM3_uc001bio.2_Missense_Mutation_p.R1150C	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1150	Ig-like C2-type 3.									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)		CACTGAAAGCGAGTCTCCTTC	0.517												
MYOM3	127294	broad.mit.edu	37	1	24400702	24400702	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:24400702T>C	uc001bin.3	-	23	3079	c.2916A>G	c.(2914-2916)ATA>ATG	p.I972M	MYOM3_uc001bim.3_Missense_Mutation_p.I629M|MYOM3_uc001bio.2_Missense_Mutation_p.I972M	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	972										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)		CATCAGTGACTATGACTGAGT	0.587												
MYOM3	127294	broad.mit.edu	37	1	24401807	24401807	+	Splice_Site	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:24401807A>G	uc001bin.3	-	22	3021	c.2858_splice	c.e22+1	p.K953_splice	MYOM3_uc001bim.3_Splice_Site_p.K610_splice|MYOM3_uc001bio.2_Splice_Site_p.K953_splice	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3											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)		CGCCTCACTTACTTGTTAACT	0.567												
RHCE	6006	broad.mit.edu	37	1	25747161	25747161	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:25747161C>A	uc001bkf.2	-	1	203	c.117G>T	c.(115-117)GAG>GAT	p.E39D	RHCE_uc001bkg.2_Missense_Mutation_p.E39D|RHCE_uc001bkh.2_Missense_Mutation_p.E39D|RHCE_uc001bki.2_Missense_Mutation_p.E39D|RHCE_uc001bkj.2_Intron	NM_020485	NP_065231	P18577	RHCE_HUMAN	Rhesus blood group, CcEe antigens isoform 1	39						integral to plasma membrane					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTTGATCCTCTAAGGAAG	0.557												
PAFAH2	5051	broad.mit.edu	37	1	26310481	26310481	+	Nonsense_Mutation	SNP	G	G	A	rs144717482		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:26310481G>A	uc001bld.3	-	6	688	c.508C>T	c.(508-510)CGA>TGA	p.R170*	PAFAH2_uc001ble.3_Nonsense_Mutation_p.R170*	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2	170					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			ovary(2)	2		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCAACTCGACGGAAAGGG	0.537												
ARID1A	8289	broad.mit.edu	37	1	27087443	27087443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:27087443C>T	uc001bmv.1	+	5	2390	c.2017C>T	c.(2017-2019)CAG>TAG	p.Q673*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q673*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q673*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q290*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	673					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)		CCAAGGAGAGCAGAGTAATCC	0.572			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
HCRTR1	3061	broad.mit.edu	37	1	32086580	32086580	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:32086580C>T	uc009vtx.2	+	5	900	c.515C>T	c.(514-516)TCG>TTG	p.S172L	HCRTR1_uc001btb.2_5'UTR|HCRTR1_uc001btc.3_Missense_Mutation_p.S86L|HCRTR1_uc001btd.2_Missense_Mutation_p.S172L|HCRTR1_uc010ogl.1_Missense_Mutation_p.S172L	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	172	Helical; Name=4; (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGGGCTGTGTCGCTGGCCATC	0.617												
TXLNA	200081	broad.mit.edu	37	1	32653571	32653571	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:32653571A>C	uc001bui.2	+	5	679	c.614A>C	c.(613-615)AAT>ACT	p.N205T	TXLNA_uc001buj.2_Missense_Mutation_p.N205T	NM_175852	NP_787048	P40222	TXLNA_HUMAN	taxilin	205	Potential.				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAGCACCGGAATTCACAGAAG	0.607												
EIF3I	8668	broad.mit.edu	37	1	32694368	32694368	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:32694368G>A	uc001bur.3	+	9	1213	c.680G>A	c.(679-681)CGG>CAG	p.R227Q	EIF3I_uc009vuc.2_Missense_Mutation_p.R227Q|EIF3I_uc001bus.2_Missense_Mutation_p.R179Q	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3,	227						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				AAGACTTTCCGGACAGAACGT	0.532												
S100PBP	64766	broad.mit.edu	37	1	33292201	33292201	+	Silent	SNP	G	G	A	rs12092326		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:33292201G>A	uc001bvz.2	+	3	778	c.501G>A	c.(499-501)TCG>TCA	p.S167S	S100PBP_uc001bwa.1_Silent_p.S167S|S100PBP_uc001bwb.1_Silent_p.S167S|S100PBP_uc001bwc.2_Silent_p.S167S|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	167						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGACTGATTCGTCCAAAGATA	0.393												
S100PBP	64766	broad.mit.edu	37	1	33292405	33292405	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:33292405G>A	uc001bvz.2	+	3	982	c.705G>A	c.(703-705)ACG>ACA	p.T235T	S100PBP_uc001bwa.1_Silent_p.T235T|S100PBP_uc001bwb.1_Silent_p.T235T|S100PBP_uc001bwc.2_Silent_p.T235T|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	235						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGAACCCTACGTCTGTATTCT	0.433												
TRIM62	55223	broad.mit.edu	37	1	33625499	33625499	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:33625499C>T	uc001bxb.2	-	3	1189	c.551G>A	c.(550-552)CGG>CAG	p.R184Q		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	184	Potential.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				CCGGTGCAGCCGCTCGAAGGC	0.652												
SFPQ	6421	broad.mit.edu	37	1	35652837	35652837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:35652837G>A	uc001bys.2	-	8	1924	c.1831C>T	c.(1831-1833)CGA>TGA	p.R611*	SFPQ_uc001byr.2_RNA	NM_005066	NP_005057	P23246	SFPQ_HUMAN	splicing factor proline/glutamine rich	611					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding		SFPQ/TFE3(6)	kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCACCCATTCGCATGTCTCTT	0.383			T	TFE3	papillary renal cell							
EIF2C1	26523	broad.mit.edu	37	1	36359342	36359342	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:36359342C>T	uc001bzl.2	+	5	793	c.580C>T	c.(580-582)CGC>TGC	p.R194C	EIF2C1_uc001bzk.2_Missense_Mutation_p.R119C|EIF2C1_uc009vuy.2_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	194					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGGGGGTGGGCGCGAGGTCTG	0.632												
EIF2C1	26523	broad.mit.edu	37	1	36367669	36367669	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:36367669C>T	uc001bzl.2	+	10	1474	c.1261C>T	c.(1261-1263)CGG>TGG	p.R421W	EIF2C1_uc001bzk.2_Missense_Mutation_p.R346W|EIF2C1_uc009vuy.2_Intron	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	421					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTACGGCGGCCGGGTGAGCAG	0.587												
MAP7D1	55700	broad.mit.edu	37	1	36644173	36644173	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:36644173G>A	uc001bzz.2	+	10	2078	c.1862G>A	c.(1861-1863)CGG>CAG	p.R621Q	MAP7D1_uc001caa.2_Missense_Mutation_p.R589Q|MAP7D1_uc001cab.2_Missense_Mutation_p.R584Q|MAP7D1_uc001cac.2_Missense_Mutation_p.R321Q|MAP7D1_uc001cad.2_Missense_Mutation_p.R158Q	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	621	Potential.					cytoplasm|spindle		p.R621R(1)		ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				GAGCAGGAGCGGAGGCTGCAG	0.677												
THRAP3	9967	broad.mit.edu	37	1	36755130	36755130	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:36755130C>T	uc001cae.3	+	5	1734	c.1510C>T	c.(1510-1512)CGG>TGG	p.R504W	THRAP3_uc001caf.3_Missense_Mutation_p.R504W|THRAP3_uc001cag.1_Missense_Mutation_p.R504W	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	504					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(5)|lung(3)|breast(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAGGAAGATCGGGGCAAGAG	0.517			T	USP6	aneurysmal bone cysts							
PABPC4	8761	broad.mit.edu	37	1	40030821	40030821	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:40030821A>G	uc010oiv.1	-	8	2100	c.1202T>C	c.(1201-1203)TTC>TCC	p.F401S	PABPC4_uc001cdl.2_Missense_Mutation_p.F401S|PABPC4_uc001cdm.2_Missense_Mutation_p.F401S	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	401					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	Lung NSC(20;1.55e-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;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGCAGGCTGGAACTGATTTAA	0.552												
RIMS3	9783	broad.mit.edu	37	1	41107430	41107430	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:41107430G>A	uc001cfu.1	-	3	637	c.168C>T	c.(166-168)ATC>ATT	p.I56I	RIMS3_uc001cfv.1_Silent_p.I56I	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	56					neurotransmitter transport	cell junction|synapse					0	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;1.47e-17)			TCAGGCCCACGATGGCCACCA	0.652												
SLFNL1	200172	broad.mit.edu	37	1	41483426	41483426	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:41483426G>A	uc001cgm.1	-	3	1058	c.838C>T	c.(838-840)CGC>TGC	p.R280C	SLFNL1_uc009vwf.1_Missense_Mutation_p.R280C|SLFNL1_uc001cgn.1_Missense_Mutation_p.R221C|SLFNL1_uc009vwg.1_Missense_Mutation_p.R280C	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN	schlafen-like 1	280				R -> S (in Ref. 3; AAH37879).			ATP binding			skin(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				AGGCGTGCGCGGTCCTCGTCA	0.637												
LEPRE1	64175	broad.mit.edu	37	1	43220639	43220639	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:43220639G>A	uc001chv.2	-	8	1359	c.1246C>T	c.(1246-1248)CGC>TGC	p.R416C	LEPRE1_uc001chw.2_Missense_Mutation_p.R416C|LEPRE1_uc001chx.3_Missense_Mutation_p.R416C	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	416	Potential.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGAGATGCGTACGGCTGTT	0.577												
MAST2	23139	broad.mit.edu	37	1	46499806	46499806	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:46499806C>T	uc001cov.2	+	28	4019	c.3736C>T	c.(3736-3738)CGC>TGC	p.R1246C	MAST2_uc001cow.2_Missense_Mutation_p.R1245C|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	1246					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCACACCAGCCGCAGCCTTTC	0.592												
SPATA6	54558	broad.mit.edu	37	1	48917264	48917264	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:48917264C>T	uc001crr.1	-	3	363	c.198G>A	c.(196-198)CCG>CCA	p.P66P	SPATA6_uc001crs.1_Silent_p.P66P|SPATA6_uc010omv.1_Silent_p.P66P|SPATA6_uc001crt.2_Intron	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6 precursor	66					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				ovary(1)	1						CTACTGCGTCCGGGAACACCT	0.363												
TTC22	55001	broad.mit.edu	37	1	55266656	55266656	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:55266656C>T	uc009vzt.1	-	1	286	c.181G>A	c.(181-183)GCC>ACC	p.A61T	TTC22_uc001cxz.3_Missense_Mutation_p.A61T	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22 isoform 1	61							binding				0						TGCGGGGCGGCCGCCAGCTGG	0.716												
FGGY	55277	broad.mit.edu	37	1	59787288	59787288	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:59787288C>T	uc001czi.3	+	2	279	c.67C>T	c.(67-69)CGT>TGT	p.R23C	FGGY_uc001czg.2_5'UTR|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.R23C|FGGY_uc001czj.3_Missense_Mutation_p.R23C|FGGY_uc001czk.3_Intron|FGGY_uc001czl.3_Missense_Mutation_p.R23C	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	23					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					AGGCAGTGTCCGTGCAGCTCT	0.522												
PGM1	5236	broad.mit.edu	37	1	64120083	64120083	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:64120083G>A	uc001dbh.2	+	10	1758	c.1545G>A	c.(1543-1545)CGG>CGA	p.R515R	PGM1_uc010ooy.1_Silent_p.R318R|PGM1_uc010ooz.1_Silent_p.R533R	NM_002633	NP_002624	P36871	PGM1_HUMAN	phosphoglucomutase 1	515					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			ovary(2)|kidney(1)	3						CCACCATTCGGCTGTACATCG	0.542												
AMY2B	280	broad.mit.edu	37	1	104116341	104116341	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:104116341T>G	uc001duq.2	+	6	1141	c.525T>G	c.(523-525)TGT>TGG	p.C175W	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.C175W|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	175					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TCAGAGATTGTCGTCTGGTTG	0.363												
CELSR2	1952	broad.mit.edu	37	1	109807188	109807188	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:109807188C>T	uc001dxa.3	+	11	5463	c.5402C>T	c.(5401-5403)CCG>CTG	p.P1801L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1801	EGF-like 5; calcium-binding.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GACTCAAACCCGTGTCCTGCT	0.473												
KCND3	3752	broad.mit.edu	37	1	112524339	112524339	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:112524339G>A	uc001ebu.1	-	2	1490	c.1010C>T	c.(1009-1011)ACT>ATT	p.T337I	KCND3_uc001ebv.1_Missense_Mutation_p.T337I	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	337	Helical; Name=Segment S5; (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AAACATCACAGTGGCAAAGAT	0.547												
KCND3	3752	broad.mit.edu	37	1	112525143	112525143	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:112525143G>A	uc001ebu.1	-	2	686	c.206C>T	c.(205-207)ACG>ATG	p.T69M	KCND3_uc001ebv.1_Missense_Mutation_p.T69M	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	69	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTCCTTCTCCGTGCTGCCCAG	0.612												
CSDE1	7812	broad.mit.edu	37	1	115272943	115272943	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:115272943G>A	uc001efk.2	-	12	1758	c.1292C>T	c.(1291-1293)ACG>ATG	p.T431M	CSDE1_uc001efi.2_Missense_Mutation_p.T477M|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.T400M|CSDE1_uc001efm.2_Missense_Mutation_p.T446M|CSDE1_uc009wgv.2_Missense_Mutation_p.T431M|CSDE1_uc001efn.2_Missense_Mutation_p.T400M	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	431					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTTCTACCGTGCCCAGAAA	0.393												
CD58	965	broad.mit.edu	37	1	117078717	117078717	+	Silent	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:117078717A>G	uc001egm.2	-	3	619	c.498T>C	c.(496-498)TGT>TGC	p.C166C	CD58_uc001egn.2_RNA|CD58_uc010owy.1_Silent_p.C166C|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Silent_p.C166C	NM_001779	NP_001770	P19256	LFA3_HUMAN	CD58 molecule isoform 1	166	Extracellular (Potential).|Ig-like C2-type.				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)		AGTTACGTTTACATTGCTCCA	0.348												
NOTCH2	4853	broad.mit.edu	37	1	120480612	120480612	+	Missense_Mutation	SNP	G	G	A	rs61752485		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:120480612G>A	uc001eik.2	-	20	3461	c.3205C>T	c.(3205-3207)CGG>TGG	p.R1069W	NOTCH2_uc001eil.2_Missense_Mutation_p.R1069W	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1069	EGF-like 28.|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGGAGACCGACTGCAGAGA	0.433			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
POLR3C	10623	broad.mit.edu	37	1	145608422	145608422	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:145608422G>A	uc001eoh.2	-	3	546	c.385C>T	c.(385-387)CTC>TTC	p.L129F	NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Missense_Mutation_p.L142F|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Missense_Mutation_p.L129F	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	129					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GTCTCTGTGAGCCGGTCTGCC	0.478												
POLR3C	10623	broad.mit.edu	37	1	145608660	145608660	+	Splice_Site	SNP	C	C	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:145608660C>G	uc001eoh.2	-	3	309	c.148_splice	c.e3-1	p.V50_splice	NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Splice_Site_p.V63_splice|POLR3C_uc001eoi.2_Splice_Site|POLR3C_uc009wix.2_Splice_Site_p.V50_splice	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide						innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CTTTCTTCACCTAAATGGAAC	0.438												
ADAMTSL4	54507	broad.mit.edu	37	1	150526544	150526544	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:150526544C>T	uc001eux.2	+	6	1313	c.1077C>T	c.(1075-1077)AGC>AGT	p.S359S	ADAMTSL4_uc001euw.2_Silent_p.S359S|ADAMTSL4_uc009wlw.2_Silent_p.S359S|ADAMTSL4_uc010pcg.1_Silent_p.S359S	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	359					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCCAGTAGCCCTATTCCAA	0.662												
POGZ	23126	broad.mit.edu	37	1	151397496	151397496	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:151397496G>A	uc001eyd.1	-	8	1426	c.1120C>T	c.(1120-1122)CGG>TGG	p.R374W	POGZ_uc001eye.1_Missense_Mutation_p.R321W|POGZ_uc010pdb.1_Missense_Mutation_p.R365W|POGZ_uc001eyf.1_Missense_Mutation_p.R321W|POGZ_uc010pdc.1_Missense_Mutation_p.R312W|POGZ_uc009wmv.1_Missense_Mutation_p.R279W|POGZ_uc010pdd.1_Intron	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	374					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATATTTTCCGTCCACCATCC	0.408												
CELF3	11189	broad.mit.edu	37	1	151681720	151681720	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:151681720G>A	uc001eys.1	-	4	1176	c.382C>T	c.(382-384)CGG>TGG	p.R128W	CELF3_uc010pdh.1_5'Flank|CELF3_uc001eyr.2_Missense_Mutation_p.R127W|CELF3_uc009wmy.2_Missense_Mutation_p.R128W|CELF3_uc009wmx.1_Missense_Mutation_p.R128W|CELF3_uc001eyt.2_Missense_Mutation_p.R51W|CELF3_uc010pdi.1_Missense_Mutation_p.R128W|C1orf230_uc001eyu.2_5'Flank	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	trinucleotide repeat containing 4	128	RRM 2.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			ovary(1)|central_nervous_system(1)	2						TCTGGCCCCCGGAGCACAGTG	0.622												
HRNR	388697	broad.mit.edu	37	1	152185591	152185591	+	Silent	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:152185591A>G	uc001ezt.1	-	3	8590	c.8514T>C	c.(8512-8514)TAT>TAC	p.Y2838Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2838					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)			GGACATATTCATAGGGTGAAG	0.373												
FLG	2312	broad.mit.edu	37	1	152277362	152277362	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:152277362C>A	uc001ezu.1	-	3	10036	c.10000G>T	c.(10000-10002)GGG>TGG	p.G3334W		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3334	Filaggrin 20.|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)			CCACTGGACCCCCAGTGTCTA	0.577									Ichthyosis			
SPRR1B	6699	broad.mit.edu	37	1	153005023	153005023	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:153005023A>G	uc001fba.2	+	2	266	c.202A>G	c.(202-204)AAG>GAG	p.K68E	SPRR1B_uc009wnx.1_Intron	NM_003125	NP_003116	P22528	SPR1B_HUMAN	small proline-rich protein 1B	68	5.|6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGCCACCCCAAGGTGCCTGA	0.632												
S100A5	6276	broad.mit.edu	37	1	153513914	153513914	+	Translation_Start_Site	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:153513914C>T	uc001fbx.2	-	2	215	c.-13G>A	c.(-15--11)CAGTG>CAATG			NM_002962	NP_002953	P33763	S10A5_HUMAN	S100 calcium binding protein A5							nucleus	calcium ion binding|copper ion binding|protein homodimerization activity|zinc ion 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)			CTCCCTCTCACTGCCTTCTGC	0.527												
PBXIP1	57326	broad.mit.edu	37	1	154919254	154919254	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:154919254A>G	uc001ffr.2	-	10	955	c.896T>C	c.(895-897)CTG>CCG	p.L299P	PBXIP1_uc001ffs.2_Missense_Mutation_p.L270P|PBXIP1_uc010pep.1_Missense_Mutation_p.L144P	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	299	Potential.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGGTGCATCAGGCTCTGAAG	0.562												
PKLR	5313	broad.mit.edu	37	1	155264041	155264041	+	Silent	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:155264041A>G	uc001fkb.3	-	7	1140	c.1101T>C	c.(1099-1101)GTT>GTC	p.V367V	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.V336V	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	367					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TGGCACAGACAACAGGCTTGC	0.557												
RUSC1	23623	broad.mit.edu	37	1	155296779	155296779	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:155296779G>A	uc001fkj.2	+	8	2499	c.2270G>A	c.(2269-2271)CGT>CAT	p.R757H	RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fki.2_5'Flank|RUSC1_uc001fkk.2_Missense_Mutation_p.R651H|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.R288H|RUSC1_uc001fkl.2_Missense_Mutation_p.R347H|RUSC1_uc001fkp.2_Missense_Mutation_p.R288H|RUSC1_uc001fkq.2_Missense_Mutation_p.R182H|RUSC1_uc010pgb.1_Missense_Mutation_p.R255H|RUSC1_uc009wqp.1_Missense_Mutation_p.R282H|RUSC1_uc001fkn.2_Missense_Mutation_p.R66H|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.R288H|RUSC1_uc001fks.2_Missense_Mutation_p.R66H	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	757						cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GCACCGGGGCGTCATGGGACT	0.632												
GPATCH4	54865	broad.mit.edu	37	1	156565595	156565595	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:156565595C>G	uc001fpm.2	-	8	577	c.538G>C	c.(538-540)GAG>CAG	p.E180Q	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Missense_Mutation_p.E175Q	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	175	Potential.					intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTGGGCCTCTAGGCGAGCA	0.577												
FCRL1	115350	broad.mit.edu	37	1	157773681	157773681	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:157773681C>A	uc001frg.2	-	3	386	c.273G>T	c.(271-273)ATG>ATT	p.M91I	FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.M91I|FCRL1_uc001fri.2_Missense_Mutation_p.M91I|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	91	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTTTGGACGCCATTGTCTGTG	0.587												
SPTA1	6708	broad.mit.edu	37	1	158651408	158651408	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:158651408G>A	uc001fst.1	-	4	639	c.440C>T	c.(439-441)ACC>ATC	p.T147I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	147	Spectrin 2.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTTCTCCAGGGTCAGCTCTAA	0.547												
SPTA1	6708	broad.mit.edu	37	1	158651423	158651423	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:158651423A>G	uc001fst.1	-	4	624	c.425T>C	c.(424-426)CTG>CCG	p.L142P		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	142	Spectrin 2.				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			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					CTCTAACAGCAGGTCCCACAG	0.542												
IGSF8	93185	broad.mit.edu	37	1	160063505	160063505	+	Missense_Mutation	SNP	G	G	A	rs146954075		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:160063505G>A	uc001fva.2	-	3	944	c.899C>T	c.(898-900)ACG>ATG	p.T300M	IGSF8_uc001fuz.2_Missense_Mutation_p.T300M|IGSF8_uc009wtf.2_Missense_Mutation_p.T300M	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	300	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)			CTTACACAGCGTCTGCACATC	0.587												
NCSTN	23385	broad.mit.edu	37	1	160318843	160318843	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:160318843T>C	uc001fvx.2	+	3	369	c.245T>C	c.(244-246)CTA>CCA	p.L82P	NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Missense_Mutation_p.L62P|NCSTN_uc010pjf.1_Missense_Mutation_p.L82P|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	82	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)			GAGGAGGACCTACAGTGGGTA	0.458												
VANGL2	57216	broad.mit.edu	37	1	160395046	160395046	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:160395046C>T	uc001fwb.1	+	9	1743	c.1444C>T	c.(1444-1446)CGC>TGC	p.R482C	VANGL2_uc001fwc.1_Missense_Mutation_p.R482C	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	482	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTCTTAAAACGCCAGGACTT	0.532												
ARHGAP30	257106	broad.mit.edu	37	1	161026254	161026254	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:161026254A>G	uc001fxl.2	-	3	615	c.269T>C	c.(268-270)GTC>GCC	p.V90A	ARHGAP30_uc001fxk.2_Missense_Mutation_p.V90A|ARHGAP30_uc001fxm.2_Intron|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	90	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CAGGGAGGAGACGCAGTGAAT	0.577												
DUSP27	92235	broad.mit.edu	37	1	167097566	167097566	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:167097566G>A	uc001geb.1	+	5	3198	c.3198G>A	c.(3196-3198)AGG>AGA	p.R1066R		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	1066					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						CCAGGTCCAGGGACTGGGAAG	0.552												
ADCY10	55811	broad.mit.edu	37	1	167847701	167847701	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:167847701C>A	uc001ger.2	-	12	1687	c.1389G>T	c.(1387-1389)TGG>TGT	p.W463C	ADCY10_uc009wvk.2_Missense_Mutation_p.W371C|ADCY10_uc010plj.1_Missense_Mutation_p.W310C|ADCY10_uc009wvl.2_Missense_Mutation_p.W462C	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	463					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						CAGTACGGCCCCAATACTGAT	0.393												
GPR161	23432	broad.mit.edu	37	1	168065809	168065809	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:168065809G>A	uc001gfc.2	-	5	1350	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W	GPR161_uc001gfb.2_Missense_Mutation_p.R214W|GPR161_uc010pll.1_Missense_Mutation_p.R256W|GPR161_uc010plm.1_Missense_Mutation_p.R232W|GPR161_uc009wvo.2_Missense_Mutation_p.R363W|GPR161_uc001gfd.2_Missense_Mutation_p.R346W|GPR161_uc010pln.1_Missense_Mutation_p.R366W|GPR161_uc001gfe.1_Missense_Mutation_p.R346W	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	346	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					AATGGTTCCCGATAATACCGG	0.527												
MYOC	4653	broad.mit.edu	37	1	171621418	171621418	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:171621418C>T	uc001ghu.2	-	1	356	c.334G>A	c.(334-336)GAG>AAG	p.E112K	MYOC_uc010pmk.1_Intron	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	112	Potential.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCCTGGGTCTCCTGGGGCCTG	0.637												
ABL2	27	broad.mit.edu	37	1	179086567	179086567	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:179086567T>C	uc001gmj.3	-	8	1595	c.1308A>G	c.(1306-1308)GGA>GGG	p.G436G	ABL2_uc010pnf.1_Silent_p.G436G|ABL2_uc010png.1_Silent_p.G415G|ABL2_uc010pnh.1_Silent_p.G415G|ABL2_uc009wxe.2_Silent_p.G415G|ABL2_uc001gmg.3_Silent_p.G421G|ABL2_uc001gmi.3_Silent_p.G421G|ABL2_uc001gmh.3_Silent_p.G400G|ABL2_uc010pne.1_Silent_p.G400G|ABL2_uc009wxf.1_Silent_p.G421G|ABL2_uc001gmk.2_Silent_p.G400G	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	436	Protein kinase.|Kinase activation loop (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TATAAGTGTCTCCAGTCATCA	0.448			T	ETV6	AML							
LAMC2	3918	broad.mit.edu	37	1	183205613	183205613	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:183205613C>T	uc001gqa.2	+	17	2789	c.2475C>T	c.(2473-2475)TCC>TCT	p.S825S	LAMC2_uc001gpz.3_Silent_p.S825S|LAMC2_uc010poa.1_Silent_p.S525S	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	825	Potential.|Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						AAACCAAGTCCCTGGCCCAGC	0.448												
GLT25D2	23127	broad.mit.edu	37	1	183909738	183909738	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:183909738T>C	uc001gqr.2	-	11	1953	c.1581A>G	c.(1579-1581)CCA>CCG	p.P527P	GLT25D2_uc010poj.1_Silent_p.P527P|GLT25D2_uc001gqp.2_Silent_p.P135P|GLT25D2_uc001gqq.2_Silent_p.P264P|GLT25D2_uc001gqs.2_Silent_p.P407P	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	527					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						TGTACATGACTGGCAGAAACT	0.522												
IPO9	55705	broad.mit.edu	37	1	201837923	201837923	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:201837923C>T	uc001gwz.2	+	16	2053	c.2003C>T	c.(2002-2004)GCG>GTG	p.A668V		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	668					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						GGGCTTTGTGCGGTAAGTGGC	0.453												
GPR37L1	9283	broad.mit.edu	37	1	202092196	202092196	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:202092196C>T	uc001gxj.2	+	1	168	c.105C>T	c.(103-105)GCC>GCT	p.A35A		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	35	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						GGCACAGAGCCGAGACCCAGG	0.662												
PTPN7	5778	broad.mit.edu	37	1	202128486	202128486	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:202128486G>A	uc001gxm.1	-	2	176	c.45C>T	c.(43-45)ACC>ACT	p.T15T	PTPN7_uc001gxl.1_Silent_p.T54T|PTPN7_uc001gxn.1_Silent_p.T15T|PTPN7_uc010ppv.1_5'UTR|PTPN7_uc010ppw.1_5'UTR|PTPN7_uc010ppx.1_Silent_p.T89T|PTPN7_uc010ppy.1_RNA|PTPN7_uc001gxo.1_5'Flank	NM_002832	NP_002823	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type	15						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			skin(1)	1						CCAAAGACAAGGTCAACGGCT	0.637												
ATP2B4	493	broad.mit.edu	37	1	203696634	203696634	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:203696634G>A	uc001gzw.2	+	20	4128	c.3244G>A	c.(3244-3246)GCT>ACT	p.A1082T	ATP2B4_uc001gzv.2_Missense_Mutation_p.A1082T|ATP2B4_uc009xaq.2_Missense_Mutation_p.A1082T|ATP2B4_uc001gzx.2_Missense_Mutation_p.A113T|ATP2B4_uc009xar.2_Missense_Mutation_p.A77T|ATP2B4_uc010pqj.1_5'Flank|uc010pqk.1_5'Flank|SNORA77_uc001gzy.1_5'Flank	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	1082	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)			GATTGACCATGCTGAGATGGA	0.567												
LRRN2	10446	broad.mit.edu	37	1	204587901	204587901	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:204587901G>A	uc001hbe.1	-	3	1608	c.1220C>T	c.(1219-1221)CCG>CTG	p.P407L	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.P407L|LRRN2_uc009xbf.1_Missense_Mutation_p.P407L|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	407	Extracellular (Potential).|LRRCT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTCACGGACCGGGAGGCGCTG	0.662												
KLHDC8A	55220	broad.mit.edu	37	1	205312477	205312477	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:205312477C>A	uc001hcf.1	-	2	824	c.256G>T	c.(256-258)GGC>TGC	p.G86C	KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Missense_Mutation_p.G86C	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	86	Kelch 3.									ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTGCCCACGCCCCCAATCACC	0.677												
LAMB3	3914	broad.mit.edu	37	1	209811956	209811956	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:209811956G>T	uc001hhg.2	-	3	611	c.221C>A	c.(220-222)CCT>CAT	p.P74H	LAMB3_uc009xco.2_Missense_Mutation_p.P74H|LAMB3_uc001hhh.2_Missense_Mutation_p.P74H|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.P74H	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	74	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GTAGTTGTGAGGCTGCCTGGA	0.552												
CENPF	1063	broad.mit.edu	37	1	214813840	214813840	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:214813840A>T	uc001hkm.2	+	12	2333	c.2159A>T	c.(2158-2160)AAT>ATT	p.N720I		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	720	Potential.				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)		GAAATAGAAAATATGTGTTTG	0.403												
SPATA17	128153	broad.mit.edu	37	1	217804742	217804742	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:217804742C>A	uc001hlh.1	+	1	48	c.22C>A	c.(22-24)CAA>AAA	p.Q8K	GPATCH2_uc001hlf.1_5'Flank|SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.Q8K|GPATCH2_uc001hlg.3_5'Flank	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	8						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGCCCGGCTGCAAGCTAGGTC	0.517												
RAB3GAP2	25782	broad.mit.edu	37	1	220344405	220344405	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:220344405G>A	uc010puk.1	-	24	2799	c.2635C>T	c.(2635-2637)CTT>TTT	p.L879F	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.L459F	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	879					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		TCAAGAGAAAGTGCCTCCCAG	0.448												
TMEM63A	9725	broad.mit.edu	37	1	226037666	226037666	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:226037666G>A	uc001hpm.1	-	21	2268	c.2018C>T	c.(2017-2019)GCA>GTA	p.A673V		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	673	Helical; (Potential).					integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					GATGGGGGCTGCCAAGGCCTG	0.617												
PARP1	142	broad.mit.edu	37	1	226570803	226570803	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:226570803C>T	uc001hqd.3	-	8	1264	c.1093G>A	c.(1093-1095)GTG>ATG	p.V365M		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	365					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GTGGCCGCCACGGAGGCGCTG	0.512								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA				
CDC42BPA	8476	broad.mit.edu	37	1	227182673	227182673	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:227182673C>T	uc001hqr.2	-	35	5822	c.4879G>A	c.(4879-4881)GCA>ACA	p.A1627T	CDC42BPA_uc001hqq.2_Missense_Mutation_p.A926T|CDC42BPA_uc001hqs.2_Missense_Mutation_p.A1546T|CDC42BPA_uc009xes.2_Missense_Mutation_p.A1599T|CDC42BPA_uc010pvs.1_Missense_Mutation_p.A1607T|CDC42BPA_uc001hqp.2_Missense_Mutation_p.A845T	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	1640					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				CCATTCTGTGCGGATGACCCT	0.522												
TRIM17	51127	broad.mit.edu	37	1	228596210	228596210	+	Missense_Mutation	SNP	G	G	A	rs147756265		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:228596210G>A	uc001hsu.2	-	7	1511	c.1126C>T	c.(1126-1128)CGG>TGG	p.R376W	TRIM11_uc001hss.2_5'Flank|TRIM11_uc010pvx.1_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.2_Missense_Mutation_p.R376W|TRIM17_uc001hsw.2_Missense_Mutation_p.R349W	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	tripartite motif-containing 17 isoform 1	376	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Prostate(94;0.0724)				CTGTCTTTCCGGCTCACGTTG	0.622												
C1orf198	84886	broad.mit.edu	37	1	230979165	230979165	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:230979165G>A	uc001hub.2	-	3	906	c.862C>T	c.(862-864)CCA>TCA	p.P288S	C1orf198_uc009xfh.1_Missense_Mutation_p.P158S|C1orf198_uc001huc.1_Missense_Mutation_p.P71S|C1orf198_uc001hud.1_Missense_Mutation_p.P250S	NM_032800	NP_116189	Q9H425	CA198_HUMAN	hypothetical protein LOC84886 isoform 1	288											0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCAGGAGATGGCAGCTTCCCC	0.612												
EXOC8	149371	broad.mit.edu	37	1	231473363	231473363	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:231473363C>A	uc001huq.2	-	1	216	c.129G>T	c.(127-129)GAG>GAT	p.E43D	C1orf124_uc001hur.2_5'Flank|C1orf124_uc001hus.2_5'Flank|C1orf124_uc001hut.2_5'Flank	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	43					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GCTGCCGGTGCTCCTGGAGGT	0.667												
HEATR1	55127	broad.mit.edu	37	1	236719131	236719131	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:236719131G>A	uc001hyd.1	-	39	5748	c.5623C>T	c.(5623-5625)CTG>TTG	p.L1875L	HEATR1_uc009xgh.1_Silent_p.L1037L	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1875					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)			CGGAAGTCCAGGGCTTCCAGG	0.507												
RYR2	6262	broad.mit.edu	37	1	237881792	237881792	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:237881792A>G	uc001hyl.1	+	73	10645	c.10525A>G	c.(10525-10527)ATC>GTC	p.I3509V	RYR2_uc010pxz.1_Missense_Mutation_p.I464V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3509					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)			ACGAGATATAATCCGCAGCAA	0.318												
KIF26B	55083	broad.mit.edu	37	1	245848881	245848881	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:245848881A>G	uc001ibf.1	+	12	3036	c.2596A>G	c.(2596-2598)ATC>GTC	p.I866V	KIF26B_uc001ibg.1_Missense_Mutation_p.I484V|KIF26B_uc001ibh.1_Missense_Mutation_p.I108V	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	866					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGACACCGTCATCTACATCGG	0.642												
KIF26B	55083	broad.mit.edu	37	1	245849721	245849721	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:245849721G>T	uc001ibf.1	+	12	3876	c.3436G>T	c.(3436-3438)GGG>TGG	p.G1146W	KIF26B_uc001ibg.1_Missense_Mutation_p.G764W|KIF26B_uc001ibh.1_Missense_Mutation_p.G388W	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1146					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGGAGCGAAGGGTTCCCGGA	0.592												
OR2M2	391194	broad.mit.edu	37	1	248343552	248343552	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:248343552A>G	uc010pzf.1	+	1	265	c.265A>G	c.(265-267)AGC>GGC	p.S89G		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTGTCTGGCAGCAAGTCCAT	0.483												
PGBD2	267002	broad.mit.edu	37	1	249210872	249210872	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:249210872T>C	uc001ifh.2	+	3	236	c.89T>C	c.(88-90)ATG>ACG	p.M30T	PGBD2_uc001ifg.2_Intron|PGBD2_uc009xhd.2_Missense_Mutation_p.M27T	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	hypothetical protein LOC267002 isoform a	30										ovary(1)	1	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGAATGCTATGGAGGAGGAA	0.483												
USP6NL	9712	broad.mit.edu	37	10	11505520	11505520	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:11505520G>A	uc001ikt.3	-	15	1728	c.1407C>T	c.(1405-1407)GCC>GCT	p.A469A	USP6NL_uc001iks.1_Silent_p.A486A	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	469						intracellular	Rab GTPase activator activity				0						TATTTTGGTTGGCAGCTGCGT	0.453												
NEBL	10529	broad.mit.edu	37	10	21076218	21076218	+	Silent	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:21076218G>T	uc001iqi.2	-	27	3178	c.2781C>A	c.(2779-2781)GCC>GCA	p.A927A	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Silent_p.A183A	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	927	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TTTGCTGATAGGCTCCGGGAA	0.453												
ARMC3	219681	broad.mit.edu	37	10	23270360	23270360	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:23270360T>C	uc001irm.3	+	9	1091	c.1008T>C	c.(1006-1008)GCT>GCC	p.A336A	ARMC3_uc010qcv.1_Silent_p.A336A|ARMC3_uc010qcw.1_Silent_p.A73A	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	336	ARM 8.						binding				0						AAATTGCTGCTTCCCAAGCTA	0.358												
ARMC3	219681	broad.mit.edu	37	10	23287195	23287195	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:23287195C>T	uc001irm.3	+	11	1377	c.1294C>T	c.(1294-1296)CGC>TGC	p.R432C	ARMC3_uc010qcv.1_Missense_Mutation_p.R432C|ARMC3_uc010qcw.1_Missense_Mutation_p.R169C	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	432	ARM 11.						binding				0						GGAGCCCCTGCGCCTGAACAT	0.502												
GAD2	2572	broad.mit.edu	37	10	26575385	26575385	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:26575385G>A	uc001isp.2	+	13	1851	c.1348G>A	c.(1348-1350)GTT>ATT	p.V450I	GAD2_uc001isq.2_Missense_Mutation_p.V450I	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	450					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	CGGACGCCACGTTGATGTTTT	0.443												
ANUBL1	93550	broad.mit.edu	37	10	46121887	46121887	+	Missense_Mutation	SNP	G	G	A	rs140274256		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:46121887G>A	uc001jcp.3	-	7	1626	c.1384C>T	c.(1384-1386)CGG>TGG	p.R462W	ANUBL1_uc001jcl.3_5'UTR|ANUBL1_uc001jcm.3_Missense_Mutation_p.R462W|ANUBL1_uc009xmu.2_Missense_Mutation_p.R388W|ANUBL1_uc001jcn.3_Missense_Mutation_p.R388W|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	462							zinc ion binding				0						CTTAATTCCCGGTAGTTAAGA	0.458												
GDF2	2658	broad.mit.edu	37	10	48414338	48414338	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:48414338T>C	uc001jfa.1	-	2	693	c.530A>G	c.(529-531)GAT>GGT	p.D177G		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	177					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						ATCTGTTCCATCCAGAACATC	0.532												
GDF10	2662	broad.mit.edu	37	10	48429272	48429272	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:48429272T>C	uc001jfb.2	-	2	1070	c.614A>G	c.(613-615)GAC>GGC	p.D205G	GDF10_uc009xnp.2_Missense_Mutation_p.D204G|GDF10_uc009xnq.1_Missense_Mutation_p.D205G	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	205					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						GGGGGAGATGTCCTTGGCCTG	0.731												
LRRTM3	347731	broad.mit.edu	37	10	68687965	68687965	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:68687965G>A	uc001jmz.1	+	2	1841	c.1291G>A	c.(1291-1293)GTG>ATG	p.V431M	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.V431M	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	431	Helical; (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						TTTCCTGTCCGTGCTCGTCAT	0.592												
HKDC1	80201	broad.mit.edu	37	10	71008298	71008298	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:71008298C>T	uc001jpf.3	+	10	1517	c.1384C>T	c.(1384-1386)CGC>TGC	p.R462C	HKDC1_uc010qje.1_Missense_Mutation_p.R325C	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	462					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						GGTGGCCTCCCGCGTGCAGGC	0.647												
HK1	3098	broad.mit.edu	37	10	71142350	71142350	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:71142350C>T	uc001jpl.3	+	10	1474	c.1373C>T	c.(1372-1374)GCG>GTG	p.A458V	HK1_uc001jpg.3_Missense_Mutation_p.A446V|HK1_uc001jph.3_Missense_Mutation_p.A462V|HK1_uc001jpi.3_Missense_Mutation_p.A462V|HK1_uc001jpj.3_Missense_Mutation_p.A493V|HK1_uc001jpk.3_Missense_Mutation_p.A457V|HK1_uc009xqd.2_Missense_Mutation_p.A336V	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	458	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						ATGGTGACGGCGGTGGCCTAC	0.622												
CDH23	64072	broad.mit.edu	37	10	73455252	73455252	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:73455252G>T	uc001jrx.3	+	21	2744	c.2367G>T	c.(2365-2367)GAG>GAT	p.E789D	CDH23_uc001jry.2_Missense_Mutation_p.E405D|CDH23_uc001jrz.2_Missense_Mutation_p.E405D	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	789	Cadherin 8.|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						ACCTGGTGGAGATGACCCCTC	0.597												
SYNPO2L	79933	broad.mit.edu	37	10	75408298	75408298	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:75408298C>A	uc001jut.3	-	4	1264	c.1112G>T	c.(1111-1113)GGC>GTC	p.G371V	SYNPO2L_uc001jus.3_Missense_Mutation_p.G147V	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	371						cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					AGAGCCCTGGCCCTCTGATGC	0.632												
MYST4	23522	broad.mit.edu	37	10	76789627	76789627	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:76789627A>G	uc001jwn.1	+	18	5538	c.5045A>G	c.(5044-5046)AAC>AGC	p.N1682S	MYST4_uc001jwo.1_Missense_Mutation_p.N1390S|MYST4_uc001jwp.1_Missense_Mutation_p.N1499S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1682	Ser-rich.|Interaction with RUNX1 and RUNX2.				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)					AACTACGAAAACCCAAGCAGC	0.488			T	CREBBP	AML							
LOXL4	84171	broad.mit.edu	37	10	100018971	100018971	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:100018971G>A	uc001kpa.1	-	6	867	c.716C>T	c.(715-717)ACG>ATG	p.T239M		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	239	SRCR 2.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GTTCTTATTCGTCAGGCTCTT	0.602												
ARL3	403	broad.mit.edu	37	10	104436693	104436693	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:104436693G>A	uc001kwa.2	-	6	665	c.507C>T	c.(505-507)GGC>GGT	p.G169G		NM_004311	NP_004302	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	169					cell cycle|cytokinesis|small GTPase mediated signal transduction	centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding				0		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		CCCAGTTCATGCCATCCTTTG	0.507												
INA	9118	broad.mit.edu	37	10	105048194	105048194	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:105048194C>T	uc001kws.2	+	3	1317	c.1268C>T	c.(1267-1269)CCA>CTA	p.P423L		NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	423	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CTTCCCAATCCAAGTTACCTG	0.488												
PDCD11	22984	broad.mit.edu	37	10	105185237	105185237	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:105185237C>T	uc001kwy.1	+	20	3347	c.3260C>T	c.(3259-3261)ACG>ATG	p.T1087M		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1087	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTGGGAAGACGGTCACTGCC	0.532												
SH3PXD2A	9644	broad.mit.edu	37	10	105362219	105362219	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:105362219T>C	uc001kxj.1	-	14	2812	c.2672A>G	c.(2671-2673)AAC>AGC	p.N891S	SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.N726S|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.N768S|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.N726S|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.N834S	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	919	Potential.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTTGCCTTCGTTCTGCCTGCC	0.602												
SLK	9748	broad.mit.edu	37	10	105778621	105778621	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:105778621T>C	uc001kxo.1	+	15	3121	c.3087T>C	c.(3085-3087)GAT>GAC	p.D1029D	SLK_uc001kxp.1_Silent_p.D998D	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	1029	Potential.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGCTTAAAGATCAGTATTTCA	0.388												
ITPRIP	85450	broad.mit.edu	37	10	106075728	106075728	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:106075728C>T	uc001kye.2	-	2	155	c.82G>A	c.(82-84)GCC>ACC	p.A28T	ITPRIP_uc001kyf.2_Missense_Mutation_p.A28T|ITPRIP_uc001kyg.2_Missense_Mutation_p.A28T	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	28						plasma membrane					0						GGGACTGTGGCGTTCTCCCGC	0.637												
SMNDC1	10285	broad.mit.edu	37	10	112057440	112057440	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:112057440C>T	uc001kzc.3	-	4	512	c.310G>A	c.(310-312)GCT>ACT	p.A104T	SMNDC1_uc001kzb.2_Missense_Mutation_p.A25T	NM_005871	NP_005862	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	104	Tudor.				apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding|RNA binding			skin(1)	1		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		GTGATTGCAGCGGTGCCATTT	0.458												
NRAP	4892	broad.mit.edu	37	10	115413830	115413830	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:115413830G>A	uc001laj.2	-	5	579	c.415C>T	c.(415-417)CCA>TCA	p.P139S	NRAP_uc001lak.2_Missense_Mutation_p.P139S|NRAP_uc001lal.3_Missense_Mutation_p.P139S	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	139						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)		TCGGGGTCTGGCAGAGCTCCT	0.478												
DCLRE1A	9937	broad.mit.edu	37	10	115609927	115609927	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:115609927C>T	uc001law.2	-	2	1855	c.937G>A	c.(937-939)GAT>AAT	p.D313N		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	313					cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		GGTTTTTCATCGATATCATGA	0.378								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
TRUB1	142940	broad.mit.edu	37	10	116702490	116702490	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:116702490C>T	uc001lcd.2	+	2	434	c.373C>T	c.(373-375)CGA>TGA	p.R125*	TRUB1_uc010qsl.1_Nonsense_Mutation_p.R27*	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	125					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAGCGCAGCCCGAGGAGTTCT	0.443												
SEC23IP	11196	broad.mit.edu	37	10	121663791	121663791	+	Splice_Site	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:121663791T>C	uc001leu.1	+	4	1173	c.1101_splice	c.e4+2	p.E367_splice	SEC23IP_uc010qtc.1_Splice_Site_p.E156_splice	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125						Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AAACTAGAGGTACGGGTGCTT	0.408												
DMBT1	1755	broad.mit.edu	37	10	124345759	124345759	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:124345759G>A	uc001lgk.1	+	16	1749	c.1643G>A	c.(1642-1644)CGG>CAG	p.R548Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R538Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R548Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	548	SRCR 4.				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)				GGAAATGCCCGGTTTGGTCAG	0.607												
EBF3	253738	broad.mit.edu	37	10	131638585	131638585	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:131638585G>A	uc001lki.1	-	15	1607	c.1548C>T	c.(1546-1548)AGC>AGT	p.S516S		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	561					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCGCGAAGGCGCTCTTCTGTT	0.617												
IFITM2	10581	broad.mit.edu	37	11	308304	308304	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:308304G>T	uc001lox.3	+	1	198	c.112G>T	c.(112-114)GCT>TCT	p.A38S		NM_006435	NP_006426	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	38	Extracellular (Potential).				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding				0		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCACAACCCTGCTCCCCCGAT	0.597												
MUC2	4583	broad.mit.edu	37	11	1086397	1086397	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:1086397C>T	uc001lsx.1	+	23	3133	c.3106C>T	c.(3106-3108)CCC>TCC	p.P1036S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1036	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAACCCCGAGCCCTGCAGCCT	0.652												
MUC2	4583	broad.mit.edu	37	11	1090843	1090843	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:1090843C>T	uc001lsx.1	+	28	3765	c.3738C>T	c.(3736-3738)AAC>AAT	p.N1246N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1246						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTGGCCCCAACGGGACGGTGG	0.448												
MUC5B	727897	broad.mit.edu	37	11	1267115	1267115	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:1267115C>T	uc009ycr.1	+	49	10880	c.10754C>T	c.(10753-10755)ACG>ATG	p.T3585M	MUC5B_uc001ltb.2_Missense_Mutation_p.T3005M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3002	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAGCCACTACGACCGCAACC	0.682												
MUC5B	727897	broad.mit.edu	37	11	1276324	1276324	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:1276324G>A	uc009ycr.1	+	58	16855	c.16729G>A	c.(16729-16731)GCC>ACC	p.A5577T	MUC5B_uc001ltb.2_Missense_Mutation_p.A5243T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5240	VWFD 4.				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)		CGGAACCACTGCCGCCAGTTG	0.677												
OR52I2	143502	broad.mit.edu	37	11	4608694	4608694	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:4608694G>T	uc010qyh.1	+	1	652	c.652G>T	c.(652-654)GCA>TCA	p.A218S		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I,	218	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCAGGTTAGCATGTGCTGA	0.502												
OR52R1	119695	broad.mit.edu	37	11	4824881	4824881	+	Missense_Mutation	SNP	G	G	A	rs139182026		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:4824881G>A	uc010qym.1	-	1	967	c.967C>T	c.(967-969)CGT>TGT	p.R323C		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGAGGAACGTGTGCTAAAA	0.468												
OR51G1	79324	broad.mit.edu	37	11	4944809	4944809	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:4944809T>C	uc010qyr.1	-	1	761	c.761A>G	c.(760-762)TAC>TGC	p.Y254C		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGGGGATGTAGAAGAGCAG	0.547												
UBQLNL	143630	broad.mit.edu	37	11	5536502	5536502	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:5536502C>T	uc001maz.3	-	1	1455	c.1170G>A	c.(1168-1170)CAG>CAA	p.Q390Q	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	390										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTTGAAGCTGCTGGGTAAGCT	0.507												
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5624939	5624939	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:5624939G>A	uc001mbf.2	+	2	725	c.481G>A	c.(481-483)GTG>ATG	p.V161M	HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.V107M|TRIM6_uc010qzj.1_Translation_Start_Site|TRIM6_uc001mbc.1_Missense_Mutation_p.V133M|TRIM6_uc001mbe.2_Translation_Start_Site|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Missense_Mutation_p.V161M|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank	NM_001003819	NP_001003819	B2RNG4	B2RNG4_HUMAN	tripartite motif-containing 6 and tripartite	161						intracellular	zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CACGTTCCTCGTGGAGGAGGT	0.532												
OR2AG2	338755	broad.mit.edu	37	11	6789734	6789734	+	Missense_Mutation	SNP	G	G	A	rs144081005		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:6789734G>A	uc001meq.1	-	1	455	c.455C>T	c.(454-456)GCA>GTA	p.A152V		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATCAGGGATGCCAGGATCCA	0.512												
SCUBE2	57758	broad.mit.edu	37	11	9077443	9077443	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:9077443G>A	uc001mhh.1	-	10	1184	c.1104C>T	c.(1102-1104)TGC>TGT	p.C368C	SCUBE2_uc001mhi.1_Silent_p.C368C|SCUBE2_uc001mhj.1_Silent_p.C368C	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	CEGP1 protein precursor	368	EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding			ovary(1)|skin(1)	2				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TATCCAAAGAGCACTCATCCA	0.502												
SBF2	81846	broad.mit.edu	37	11	9861049	9861049	+	Missense_Mutation	SNP	G	G	A	rs140550985		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:9861049G>A	uc001mib.2	-	26	3589	c.3451C>T	c.(3451-3453)CGG>TGG	p.R1151W	SBF2_uc001mif.3_Missense_Mutation_p.R907W|uc001mig.2_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1151	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACTTACCTCCGGCAGAGTGAA	0.438												
PSMA1	5682	broad.mit.edu	37	11	14539248	14539248	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:14539248T>C	uc001mlk.2	-	4	340	c.194A>G	c.(193-195)CAT>CGT	p.H65R	PSMA1_uc001mll.2_Missense_Mutation_p.H71R|PSMA1_uc010rcp.1_RNA|PSMA1_uc001mlj.2_Missense_Mutation_p.H40R|PSMA1_uc010rcq.1_Missense_Mutation_p.H65R	NM_002786	NP_002777	P25786	PSA1_HUMAN	proteasome alpha 1 subunit isoform 2	65					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	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			upper_aerodigestive_tract(1)|skin(1)	2						GTTGTCAACATGGAGAATTTT	0.323												
E2F8	79733	broad.mit.edu	37	11	19256297	19256297	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:19256297G>A	uc001mpm.2	-	5	1282	c.760C>T	c.(760-762)CGG>TGG	p.R254W	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.R254W	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	254					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						TCACCTGCCCGAAATTCCACT	0.453												
AMBRA1	55626	broad.mit.edu	37	11	46568662	46568662	+	Splice_Site	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:46568662C>T	uc010rgu.1	-	4	738	c.378_splice	c.e4+1	p.H126_splice	AMBRA1_uc009ylc.1_Splice_Site_p.H126_splice|AMBRA1_uc001ncu.1_Splice_Site_p.H126_splice|AMBRA1_uc001ncv.2_Splice_Site_p.H126_splice|AMBRA1_uc001ncw.2_Splice_Site_p.H126_splice|AMBRA1_uc001ncx.2_Splice_Site_p.H126_splice	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated						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)		GAAATACTCACGTGTAAATCC	0.323												
HARBI1	283254	broad.mit.edu	37	11	46625117	46625117	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:46625117C>T	uc001ncy.2	-	3	1261	c.1013G>A	c.(1012-1014)CGT>CAT	p.R338H		NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	338						cytoplasm|nucleus	metal ion binding|nuclease activity				0						CTGACGAATACGGTCAGCCTC	0.512												
OR4B1	119765	broad.mit.edu	37	11	48238420	48238420	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:48238420C>T	uc010rhs.1	+	1	59	c.59C>T	c.(58-60)GCT>GTT	p.A20V		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						CAGGATCCAGCTGTGCAGAGT	0.507												
OR4B1	119765	broad.mit.edu	37	11	48239022	48239022	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:48239022G>T	uc010rhs.1	+	1	661	c.661G>T	c.(661-663)GTC>TTC	p.V221F		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						TGTCATTCTGGTCAACTTGAG	0.473												
OR10AG1	282770	broad.mit.edu	37	11	55735257	55735257	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:55735257G>A	uc010rit.1	-	1	683	c.683C>T	c.(682-684)GCC>GTC	p.A228V		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)					GGTGGAGAAGGCTTTAGCCTT	0.398												
OR5J2	282775	broad.mit.edu	37	11	55944532	55944532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:55944532G>T	uc010rjb.1	+	1	439	c.439G>T	c.(439-441)GGA>TGA	p.G147*		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					GCTTGTCACAGGATCATGGAT	0.453												
OR5T1	390155	broad.mit.edu	37	11	56043969	56043969	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:56043969A>G	uc001nio.1	+	1	855	c.855A>G	c.(853-855)ATA>ATG	p.I285M		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					ATGACATGATAGTGTCAATAT	0.408												
FAM111A	63901	broad.mit.edu	37	11	58920252	58920252	+	Missense_Mutation	SNP	A	A	G	rs143839121	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:58920252A>G	uc010rkp.1	+	5	1338	c.1111A>G	c.(1111-1113)ACC>GCC	p.T371A	FAM111A_uc010rkq.1_Missense_Mutation_p.T371A|FAM111A_uc010rkr.1_Missense_Mutation_p.T371A|FAM111A_uc001nno.2_Missense_Mutation_p.T371A|FAM111A_uc001nnp.2_Missense_Mutation_p.T371A|FAM111A_uc001nnq.2_Missense_Mutation_p.T371A	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	371					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				GGGTTACGCCACCTGCTTTGT	0.398												
MPEG1	219972	broad.mit.edu	37	11	58980175	58980175	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:58980175C>T	uc001nnu.3	-	1	320	c.164G>A	c.(163-165)CGG>CAG	p.R55Q		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	55	MACPF.|Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				GTCCACATTCCGCAGATTGTC	0.488												
SLC15A3	51296	broad.mit.edu	37	11	60718798	60718798	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:60718798C>T	uc001nqn.2	-	1	460	c.226G>A	c.(226-228)GCG>ACG	p.A76T	SLC15A3_uc001nqo.2_Missense_Mutation_p.A76T	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	76	Helical; (Potential).				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0						AATACCAGCGCGGCGCGCGTC	0.706												
DDB1	1642	broad.mit.edu	37	11	61091539	61091539	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:61091539C>T	uc001nrc.3	-	7	1059	c.833G>A	c.(832-834)GGC>GAC	p.G278D	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.G278D|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Missense_Mutation_p.G278D|DDB1_uc009ynl.1_Missense_Mutation_p.G165D	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	278	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						GAAGAGCCGGCCTTCCATGTC	0.507								NER				
ROM1	6094	broad.mit.edu	37	11	62381298	62381298	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:62381298G>T	uc001ntv.2	+	1	1086	c.545G>T	c.(544-546)TGG>TTG	p.W182L	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank|EML3_uc009yny.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	182	Lumenal (Potential).				cell adhesion|visual perception	integral to plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						GGGGTCCAGTGGGTCAGCAGC	0.622												
PLCB3	5331	broad.mit.edu	37	11	64033379	64033379	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:64033379G>T	uc001nzb.2	+	26	3057	c.3057G>T	c.(3055-3057)GAG>GAT	p.E1019D	PLCB3_uc009ypg.1_Missense_Mutation_p.E1019D|PLCB3_uc009yph.1_Missense_Mutation_p.E952D|PLCB3_uc009ypi.2_Missense_Mutation_p.E1019D	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	1019					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						CTGATGTGGAGGACACGAAGG	0.652												
NRXN2	9379	broad.mit.edu	37	11	64428312	64428312	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:64428312G>A	uc001oar.2	-	11	2537	c.2098C>T	c.(2098-2100)CGC>TGC	p.R700C	NRXN2_uc001oas.2_Missense_Mutation_p.R669C|NRXN2_uc001oaq.2_Missense_Mutation_p.R367C	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						CCCCCATTGCGACAGGGGGCA	0.647												
PYGM	5837	broad.mit.edu	37	11	64521044	64521044	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:64521044C>T	uc001oax.3	-	11	2167	c.1350G>A	c.(1348-1350)TCG>TCA	p.S450S	PYGM_uc001oay.3_Silent_p.S362S	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	450					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	TGACGGCGTGCGACCCCGCGA	0.662												
SF1	7536	broad.mit.edu	37	11	64533508	64533508	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:64533508G>A	uc001obb.1	-	13	2079	c.1702C>T	c.(1702-1704)CCC>TCC	p.P568S	SF1_uc010rnm.1_Intron|SF1_uc010rnn.1_Missense_Mutation_p.P542S|SF1_uc001oaz.1_Intron|SF1_uc001oba.1_Missense_Mutation_p.P568S|SF1_uc001obc.1_Intron|SF1_uc001obd.1_Intron|SF1_uc001obe.1_Intron|SF1_uc010rno.1_Intron	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	568	Pro-rich.				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						GGGGGCAGGGGCACCATAGTG	0.731												
SCYL1	57410	broad.mit.edu	37	11	65303573	65303573	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:65303573C>T	uc001oea.1	+	11	1613	c.1536C>T	c.(1534-1536)TGC>TGT	p.C512C	SCYL1_uc009yqk.2_Silent_p.C512C|SCYL1_uc001oeb.1_Silent_p.C512C|SCYL1_uc001oec.1_Silent_p.C512C|SCYL1_uc001oed.1_Silent_p.C369C|SCYL1_uc001oee.1_Silent_p.C156C	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	512	HEAT 3.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						CTGTGCTCTGCGGTCTCACTG	0.622												
SIPA1	6494	broad.mit.edu	37	11	65408600	65408600	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:65408600G>A	uc001ofb.2	+	2	375	c.208G>A	c.(208-210)GCC>ACC	p.A70T	SIPA1_uc010rom.1_Missense_Mutation_p.A70T|SIPA1_uc001ofd.2_Missense_Mutation_p.A70T	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	70					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						CAGCCCCCGTGCCCGTGCCCA	0.726												
TMEM151A	256472	broad.mit.edu	37	11	66061883	66061883	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:66061883G>A	uc001ohl.2	+	2	278	c.166G>A	c.(166-168)GGG>AGG	p.G56R		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	56	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						CCACGCCTGCGGGGCCGTGGT	0.736												
PC	5091	broad.mit.edu	37	11	66638824	66638824	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:66638824C>A	uc001ojn.1	-	4	498	c.449G>T	c.(448-450)GGA>GTA	p.G150V	PC_uc001ojo.1_Missense_Mutation_p.G150V|PC_uc001ojp.1_Missense_Mutation_p.G150V	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	150	Biotin carboxylation.				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)	CACCTTGTCTCCCATCTTGCG	0.652												
LRP5	4041	broad.mit.edu	37	11	68125148	68125148	+	Silent	SNP	G	G	A	rs148128016		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:68125148G>A	uc001ont.2	+	3	594	c.519G>A	c.(517-519)ACG>ACA	p.T173T	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	173	Beta-propeller 1.|LDL-receptor class B 3.|Extracellular (Potential).		T -> M (in EVR4; an individual with abnormal retinal vasculature and retinal folds).		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						GGGGTGAGACGCCCCGGATTG	0.547												
LRP5	4041	broad.mit.edu	37	11	68131241	68131241	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:68131241C>T	uc001ont.2	+	4	788	c.713C>T	c.(712-714)ACG>ATG	p.T238M	LRP5_uc009ysg.2_Translation_Start_Site	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	238	Beta-propeller 1.|LDL-receptor class B 4.|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						GGCAGCCTGACGCACCCCTTC	0.632												
CPT1A	1374	broad.mit.edu	37	11	68579908	68579908	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:68579908G>A	uc001oog.3	-	3	448	c.278C>T	c.(277-279)ACG>ATG	p.T93M	CPT1A_uc001oof.3_Missense_Mutation_p.T93M|CPT1A_uc009ysj.2_Missense_Mutation_p.T93M	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	93	Mitochondrial intermembrane (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TACTTACGCCGTTTCCAGAGT	0.433												
MYEOV	26579	broad.mit.edu	37	11	69063152	69063152	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:69063152C>T	uc001oov.2	+	3	685	c.235C>T	c.(235-237)CGC>TGC	p.R79C	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.R79C|MYEOV_uc001oow.2_Missense_Mutation_p.R21C	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	79											0	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)		ATCCCGGGGCCGCCTCTGTCT	0.617												
INPPL1	3636	broad.mit.edu	37	11	71948520	71948520	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:71948520C>T	uc001osf.2	+	26	3379	c.3232C>T	c.(3232-3234)CGG>TGG	p.R1078W	INPPL1_uc001osg.2_Missense_Mutation_p.R836W	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1078	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						GCCAGTGGTCCGGGGCCGTGG	0.687												
ARAP1	116985	broad.mit.edu	37	11	72415237	72415237	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:72415237C>T	uc001osu.2	-	14	2141	c.1952G>A	c.(1951-1953)CGC>CAC	p.R651H	ARAP1_uc001osv.2_Missense_Mutation_p.R651H|ARAP1_uc001osr.2_Missense_Mutation_p.R411H|ARAP1_uc001oss.2_Missense_Mutation_p.R406H|ARAP1_uc009yth.2_Intron|ARAP1_uc010rre.1_Missense_Mutation_p.R406H|ARAP1_uc001osw.1_5'Flank	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	651	Arf-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						CGGGTGGTAGCGGCGGTACTT	0.682												
MYO7A	4647	broad.mit.edu	37	11	76909568	76909568	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:76909568C>T	uc001oyb.2	+	34	4742	c.4470C>T	c.(4468-4470)ATC>ATT	p.I1490I	MYO7A_uc010rsm.1_Silent_p.I1479I|MYO7A_uc001oyc.2_Silent_p.I1490I|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Silent_p.I701I	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1490	FERM 1.				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						ACGACGTCATCGTGGCCGTCA	0.577												
EED	8726	broad.mit.edu	37	11	85967554	85967554	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:85967554G>T	uc001pbp.2	+	5	1009	c.552G>T	c.(550-552)AAG>AAT	p.K184N	EED_uc010rtm.1_Missense_Mutation_p.K184N|EED_uc001pbq.2_Missense_Mutation_p.K184N|EED_uc001pbr.2_Missense_Mutation_p.K184N|EED_uc001pbs.2_Missense_Mutation_p.K184N|EED_uc010rtn.1_5'Flank	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	184	Interaction with EZH2 (By similarity).|WD 2.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AGTGTATAAAGGTGGGTTTTT	0.343												
DDI1	414301	broad.mit.edu	37	11	103907674	103907674	+	Missense_Mutation	SNP	G	G	A	rs147776291	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:103907674G>A	uc001phr.2	+	1	367	c.124G>A	c.(124-126)GTC>ATC	p.V42I	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	42	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)		CAGAGTCCCCGTCGAAGAGAT	0.577												
DDI1	414301	broad.mit.edu	37	11	103907993	103907993	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:103907993G>A	uc001phr.2	+	1	686	c.443G>A	c.(442-444)AGC>AAC	p.S148N	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	148					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)		CTGATCCGCAGCATGCTGCTC	0.657												
ARHGAP20	57569	broad.mit.edu	37	11	110451712	110451712	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:110451712C>T	uc001pkz.1	-	16	2243	c.1958G>A	c.(1957-1959)CGG>CAG	p.R653Q	ARHGAP20_uc001pky.1_Missense_Mutation_p.R630Q|ARHGAP20_uc009yyb.1_Missense_Mutation_p.R617Q|ARHGAP20_uc001pla.1_Missense_Mutation_p.R617Q|ARHGAP20_uc001plb.2_Missense_Mutation_p.R196Q	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	653					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)		TTCAAGAGGCCGTTTCATTTG	0.502												
SIK2	23235	broad.mit.edu	37	11	111594401	111594401	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:111594401G>A	uc001plt.2	+	15	2447	c.2329G>A	c.(2329-2331)GTC>ATC	p.V777I		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	777					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						CCTGAGCCCCGTCCTGGAGCC	0.657												
UBE4A	9354	broad.mit.edu	37	11	118253321	118253321	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:118253321T>G	uc001psw.2	+	13	2156	c.2027T>G	c.(2026-2028)CTG>CGG	p.L676R	UBE4A_uc001psv.2_Missense_Mutation_p.L683R	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	676					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AATCCCCACCTGAGGGCCAAA	0.463												
CHEK1	1111	broad.mit.edu	37	11	125499188	125499188	+	Silent	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:125499188G>T	uc009zbo.2	+	4	1243	c.351G>T	c.(349-351)GGG>GGT	p.G117G	CHEK1_uc010sbh.1_Silent_p.G133G|CHEK1_uc010sbi.1_Silent_p.G117G|CHEK1_uc001qcf.3_Silent_p.G117G|CHEK1_uc009zbp.2_Silent_p.G117G|CHEK1_uc001qcg.3_Silent_p.G117G|CHEK1_uc009zbq.2_Silent_p.G117G|CHEK1_uc001qci.1_RNA	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	checkpoint kinase 1	117	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|skin(1)	6	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TCATGGCAGGGGTGGTAGGTA	0.363								Other_conserved_DNA_damage_response_genes				
ST3GAL4	6484	broad.mit.edu	37	11	126276430	126276430	+	Missense_Mutation	SNP	C	C	T	rs11559148		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:126276430C>T	uc001qds.2	+	3	298	c.79C>T	c.(79-81)CGG>TGG	p.R27W	ST3GAL4_uc001qdt.2_Missense_Mutation_p.R27W|ST3GAL4_uc009zcc.2_5'UTR|ST3GAL4_uc009zcd.2_Missense_Mutation_p.R16W|ST3GAL4_uc001qdu.2_Missense_Mutation_p.R27W|ST3GAL4_uc001qdv.2_Missense_Mutation_p.R27W|ST3GAL4_uc009zce.2_Missense_Mutation_p.R27W|ST3GAL4_uc001qdw.2_Missense_Mutation_p.R16W|ST3GAL4_uc001qdx.1_Missense_Mutation_p.R16W|ST3GAL4_uc001qdy.2_5'Flank|ST3GAL4_uc001qdz.2_5'Flank	NM_006278	NP_006269	Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	27	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		TTCCATCTCCCGGGAAGACAG	0.577												
ETS1	2113	broad.mit.edu	37	11	128354758	128354758	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:128354758G>A	uc010sbs.1	-	5	1006	c.690C>T	c.(688-690)GTC>GTT	p.V230V	ETS1_uc001qej.2_Silent_p.V274V|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Silent_p.V230V	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	230					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)		CTGGGGTGACGACTTCTTGTT	0.468												
MLF2	8079	broad.mit.edu	37	12	6858098	6858098	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:6858098G>A	uc010sfi.1	-	8	673	c.610C>T	c.(610-612)CGG>TGG	p.R204W	MLF2_uc001qqp.2_Missense_Mutation_p.R204W|MLF2_uc009zey.1_Missense_Mutation_p.R204W	NM_005439	NP_005430	Q15773	MLF2_HUMAN	myeloid leukemia factor 2	204					defense response	cytoplasm|nucleus	protein binding			large_intestine(1)	1						CGCTGCTGCCGGAATCGGGAG	0.687												
GPR162	27239	broad.mit.edu	37	12	6935984	6935984	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:6935984G>A	uc001qqw.1	+	5	1917	c.1382G>A	c.(1381-1383)AGG>AAG	p.R461K	LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Missense_Mutation_p.R177K|GPR162_uc009zfd.1_Missense_Mutation_p.R157K|GPR162_uc001qqy.1_Intron	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	461	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CAAAGACACAGGTTGGAGGAC	0.637												
PTPN6	5777	broad.mit.edu	37	12	7063999	7063999	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:7063999G>A	uc001qsb.2	+	4	600	c.358G>A	c.(358-360)GCA>ACA	p.A120T	PTPN6_uc001qsa.1_Missense_Mutation_p.A122T|PTPN6_uc010sfr.1_Missense_Mutation_p.A81T|PTPN6_uc009zfl.1_Missense_Mutation_p.A120T|PTPN6_uc010sfs.1_Missense_Mutation_p.A108T	NM_002831	NP_002822	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type	120	SH2 2.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)	1						TGGCGGGCAGGCAGAGACGCT	0.612												
CD163	9332	broad.mit.edu	37	12	7637821	7637821	+	Missense_Mutation	SNP	T	T	C	rs150182030	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:7637821T>C	uc001qsz.3	-	11	2778	c.2650A>G	c.(2650-2652)ATG>GTG	p.M884V	CD163_uc001qta.3_Missense_Mutation_p.M884V|CD163_uc009zfw.2_Missense_Mutation_p.M917V	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	884	SRCR 8.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						GGAATGGACATGGCCTTGTCT	0.542												
OLR1	4973	broad.mit.edu	37	12	10324632	10324632	+	Silent	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:10324632A>G	uc001qxo.1	-	1	159	c.45T>C	c.(43-45)CCT>CCC	p.P15P	OLR1_uc010sha.1_Silent_p.P15P|OLR1_uc001qxp.2_RNA	NM_002543	NP_002534	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like)	15	Cytoplasmic (Potential).				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			ovary(1)	1						ACTTCTCATCAGGCTGGTCCT	0.403												
PLCZ1	89869	broad.mit.edu	37	12	18872468	18872468	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:18872468C>A	uc010sid.1	-	5	657	c.466G>T	c.(466-468)GAT>TAT	p.D156Y	PLCZ1_uc001rdv.3_Missense_Mutation_p.D52Y|PLCZ1_uc001rdw.3_Intron|PLCZ1_uc009zil.1_RNA	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	156	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TGAGTCATATCTTGATAAACT	0.313												
ABCC9	10060	broad.mit.edu	37	12	21997454	21997454	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:21997454A>G	uc001rfi.1	-	26	3298	c.3278T>C	c.(3277-3279)CTC>CCC	p.L1093P	ABCC9_uc001rfh.2_Missense_Mutation_p.L1093P|ABCC9_uc001rfj.1_Missense_Mutation_p.L1057P	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1093	ABC transmembrane type-1 2.|Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAGCGATTGAGAATCAGTCC	0.363												
ABCC9	10060	broad.mit.edu	37	12	22035766	22035766	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:22035766G>A	uc001rfi.1	-	14	1973	c.1953C>T	c.(1951-1953)CAC>CAT	p.H651H	ABCC9_uc001rfh.2_Silent_p.H651H|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	651	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGCTGTCCAGGTGATATCTTC	0.383												
ABCC9	10060	broad.mit.edu	37	12	22063767	22063767	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:22063767G>A	uc001rfi.1	-	7	1177	c.1157C>T	c.(1156-1158)GCT>GTT	p.A386V	ABCC9_uc001rfh.2_Missense_Mutation_p.A386V|ABCC9_uc001rfj.1_Missense_Mutation_p.A386V	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	386	Cytoplasmic (Potential).|ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TACCAGCAGAGCTCCACGGAG	0.393												
BCAT1	586	broad.mit.edu	37	12	24989456	24989456	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:24989456C>T	uc001rgd.3	-	8	1334	c.892G>A	c.(892-894)GCA>ACA	p.A298T	BCAT1_uc001rgc.2_Missense_Mutation_p.A297T|BCAT1_uc010six.1_Missense_Mutation_p.A310T|BCAT1_uc010siy.1_Missense_Mutation_p.A261T|BCAT1_uc001rge.3_Missense_Mutation_p.A237T	NM_005504	NP_005495	P54687	BCAT1_HUMAN	branched chain aminotransferase 1, cytosolic	298					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CACTGATGTGCCAGGTCCAGA	0.418												
ITPR2	3709	broad.mit.edu	37	12	26731711	26731711	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:26731711C>T	uc001rhg.2	-	34	4982	c.4565G>A	c.(4564-4566)TGC>TAC	p.C1522Y		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1522	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TGGCCAGGTGCAATTGTAAAT	0.398												
ARID2	196528	broad.mit.edu	37	12	46246049	46246049	+	Silent	SNP	T	T	G	rs146664069	by1000genomes	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:46246049T>G	uc001ros.1	+	15	4143	c.4143T>G	c.(4141-4143)ACT>ACG	p.T1381T	ARID2_uc001ror.2_Silent_p.T1381T|ARID2_uc009zkg.1_Silent_p.T837T|ARID2_uc009zkh.1_Silent_p.T1008T|ARID2_uc001rou.1_Silent_p.T715T	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1381					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)		ATCATAAAACTTCCAATCATG	0.348												
PRKAG1	5571	broad.mit.edu	37	12	49399287	49399287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:49399287G>A	uc001rsy.2	-	4	277	c.208C>T	c.(208-210)CGA>TGA	p.R70*	uc001rsw.2_Intron|PRKAG1_uc010smd.1_Nonsense_Mutation_p.R38*|PRKAG1_uc001rsx.2_Translation_Start_Site|PRKAG1_uc001rsz.2_Nonsense_Mutation_p.R70*|PRKAG1_uc009zlb.2_Translation_Start_Site|PRKAG1_uc010sme.1_Nonsense_Mutation_p.R70*	NM_002733	NP_002724	P54619	AAKG1_HUMAN	AMP-activated protein kinase, noncatalytic	70	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			kidney(1)	1						GGGGCAGCTCGTACACCGTTA	0.423												
DNAJC22	79962	broad.mit.edu	37	12	49743389	49743389	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:49743389T>C	uc001rua.2	+	2	1135	c.734T>C	c.(733-735)CTA>CCA	p.L245P	DNAJC22_uc001rub.2_Missense_Mutation_p.L245P	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	245					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)	1						ATCTGGAGGCTACTGATGGGG	0.527												
ACCN2	41	broad.mit.edu	37	12	50452586	50452586	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:50452586G>A	uc001rvw.2	+	2	266	c.37G>A	c.(37-39)GTC>ATC	p.V13I	ACCN2_uc001rvv.2_Missense_Mutation_p.V13I|ACCN2_uc009zln.2_5'UTR|ACCN2_uc009zlo.2_Missense_Mutation_p.V13I	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	13	Cytoplasmic (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)	GGTGGGTGGCGTCCAGCCGGT	0.617												
GPD1	2819	broad.mit.edu	37	12	50503231	50503231	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:50503231A>G	uc001rvz.2	+	8	1012	c.979A>G	c.(979-981)AAG>GAG	p.K327E	GPD1_uc001rwa.2_Missense_Mutation_p.K304E|C12orf62_uc001rwb.1_5'Flank	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	327					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	GGCTGTGTACAAGGTGTGCTA	0.582												
ANKRD33	341405	broad.mit.edu	37	12	52285024	52285024	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:52285024C>T	uc001rzf.3	+	6	1298	c.719C>T	c.(718-720)GCG>GTG	p.A240V	ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Nonsense_Mutation_p.R432*|ANKRD33_uc001rze.2_Nonsense_Mutation_p.R328*|ANKRD33_uc001rzg.3_Missense_Mutation_p.A167V|ANKRD33_uc001rzi.3_Missense_Mutation_p.A240V	NM_001130015	NP_001123487	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33 isoform 1	240											0				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TCCTCTCTGGCGATACCAGGA	0.567												
ACVRL1	94	broad.mit.edu	37	12	52309066	52309066	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:52309066C>T	uc001rzj.2	+	7	1113	c.830C>T	c.(829-831)ACG>ATG	p.T277M	ACVRL1_uc001rzk.2_Missense_Mutation_p.T277M|ACVRL1_uc010snm.1_Missense_Mutation_p.T103M	NM_000020	NP_000011	P37023	ACVL1_HUMAN	activin A receptor type II-like 1 precursor	277	Cytoplasmic (Potential).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGGCTCATCACGCACTACCAC	0.577									Hereditary_Hemorrhagic_Telangiectasia			
SP1	6667	broad.mit.edu	37	12	53777399	53777399	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:53777399T>C	uc001scw.2	+	3	1765	c.1668T>C	c.(1666-1668)AAT>AAC	p.N556N	SP1_uc010sog.1_Silent_p.N549N	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	556	Transactivation domain C (highly charged).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CTATAGCAAATGCCCCAGGTA	0.468												
NFE2	4778	broad.mit.edu	37	12	54687063	54687063	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:54687063C>A	uc009znk.2	-	2	727	c.217G>T	c.(217-219)GAT>TAT	p.D73Y	NFE2_uc001sfq.2_Missense_Mutation_p.D73Y|NFE2_uc001sfr.3_Missense_Mutation_p.D73Y|NFE2_uc009znl.2_Missense_Mutation_p.D73Y	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	73	Transactivation domain.|Required for interaction with MAPK8 (By similarity).				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0						AAGCCAGAATCTGGGTGGATT	0.552												
KIAA0748	9840	broad.mit.edu	37	12	55356993	55356993	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:55356993G>A	uc001sgn.3	-	9	799	c.689C>T	c.(688-690)ACT>ATT	p.T230I	KIAA0748_uc001sgl.3_Missense_Mutation_p.T92I|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_5'UTR|KIAA0748_uc010spc.1_Missense_Mutation_p.T92I|KIAA0748_uc010spd.1_Missense_Mutation_p.T230I|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	230										ovary(1)|central_nervous_system(1)	2						GGCATCAGCAGTGACAGCCAG	0.453												
SILV	6490	broad.mit.edu	37	12	56348131	56348131	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:56348131C>T	uc001sip.2	-	11	1884	c.1853G>A	c.(1852-1854)CGC>CAC	p.R618H	SILV_uc001siq.2_Missense_Mutation_p.R625H|SILV_uc010spx.1_Missense_Mutation_p.R532H|SILV_uc001sir.2_Missense_Mutation_p.R618H	NM_006928	NP_008859	P40967	PMEL_HUMAN	silver homolog	618	Cytoplasmic (Potential).				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding				0						CATAAGTCTGCGCCTGATATT	0.512												
ZC3H10	84872	broad.mit.edu	37	12	56514705	56514705	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:56514705C>T	uc001sjp.1	+	3	548	c.359C>T	c.(358-360)GCA>GTA	p.A120V		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	120							nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CAGAAAGTAGCAGCTGGCCTT	0.557												
PAN2	9924	broad.mit.edu	37	12	56712173	56712173	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:56712173C>T	uc001skx.2	-	25	3795	c.3422G>A	c.(3421-3423)CGC>CAC	p.R1141H	CNPY2_uc001sku.1_5'Flank|CNPY2_uc001skv.2_5'Flank|PAN2_uc001skw.2_Missense_Mutation_p.R289H|PAN2_uc001skz.2_Missense_Mutation_p.R1140H|PAN2_uc001sky.2_Missense_Mutation_p.R1137H	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	1141	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						AAGGGCTGTGCGGGCATCCTC	0.498												
GLI1	2735	broad.mit.edu	37	12	57864501	57864501	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:57864501C>A	uc001snx.2	+	12	2056	c.1978C>A	c.(1978-1980)CTG>ATG	p.L660M	GLI1_uc009zpq.2_Missense_Mutation_p.L532M	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	660					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)			GTTCAAGAGCCTGGGCTGTGT	0.612												
GRIP1	23426	broad.mit.edu	37	12	66773137	66773137	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:66773137T>C	uc001stk.2	-	19	2629	c.2388A>G	c.(2386-2388)CCA>CCG	p.P796P	GRIP1_uc010sta.1_Silent_p.P740P|GRIP1_uc001stj.2_Silent_p.P578P|GRIP1_uc001stl.1_Silent_p.P688P|GRIP1_uc001stm.2_Silent_p.P796P	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	848					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)		GCTTAGTGACTGGGGACAAGC	0.488												
GLIPR1L2	144321	broad.mit.edu	37	12	75807475	75807475	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:75807475C>T	uc001sxr.1	+	3	586	c.578C>T	c.(577-579)GCG>GTG	p.A193V	GLIPR1L2_uc001sxp.1_Missense_Mutation_p.A193V|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.A86V	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	193						integral to membrane				ovary(1)	1						TGCAACTATGCGCCAGGGTAA	0.289												
NAV3	89795	broad.mit.edu	37	12	78360045	78360045	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:78360045G>T	uc001syp.2	+	4	624	c.451G>T	c.(451-453)GCC>TCC	p.A151S	NAV3_uc001syo.2_Missense_Mutation_p.A151S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	151	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TTTTCTAGCAGCCAGAGGGGT	0.323										HNSCC(70;0.22)		
PLXNC1	10154	broad.mit.edu	37	12	94673302	94673302	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:94673302C>T	uc001tdc.2	+	22	3901	c.3652C>T	c.(3652-3654)CGG>TGG	p.R1218W	PLXNC1_uc010sut.1_Missense_Mutation_p.R265W|PLXNC1_uc009zsv.2_5'UTR	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1218	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						AGATGTCTGTCGGAATATTTC	0.398												
HAL	3034	broad.mit.edu	37	12	96374631	96374631	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:96374631G>A	uc001tem.1	-	16	1595	c.1298C>T	c.(1297-1299)GCC>GTC	p.A433V	HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.A225V|HAL_uc010sux.1_Missense_Mutation_p.A433V	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	433					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	TCCCCTATTGGCAAAGACCAT	0.438												
GNPTAB	79158	broad.mit.edu	37	12	102155452	102155452	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:102155452G>A	uc001tit.2	-	14	2984	c.2805C>T	c.(2803-2805)CTC>CTT	p.L935L		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	935					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						TTACATATCTGAGGGAATCTG	0.388												
CMKLR1	1240	broad.mit.edu	37	12	108686207	108686207	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:108686207C>T	uc009zuw.2	-	3	724	c.533G>A	c.(532-534)CGG>CAG	p.R178Q	CMKLR1_uc001tmw.2_Missense_Mutation_p.R178Q|CMKLR1_uc001tmv.2_Missense_Mutation_p.R176Q|CMKLR1_uc009zuv.2_Missense_Mutation_p.R178Q	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	178	Extracellular (Potential).				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			lung(3)|ovary(1)|pancreas(1)	5						GGCTGTGTCCCGGAAGACGAG	0.567												
PPTC7	160760	broad.mit.edu	37	12	110977670	110977670	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:110977670T>C	uc001trh.1	-	4	911	c.683A>G	c.(682-684)AAC>AGC	p.N228S		NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN	T-cell activation protein phosphatase 2C	228	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity				0						ATCAGGCATGTTGTCAAAGAG	0.458												
DTX1	1840	broad.mit.edu	37	12	113496119	113496119	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:113496119C>T	uc001tuk.1	+	1	458	c.122C>T	c.(121-123)ACG>ATG	p.T41M		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	41	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						CGGCCCTACACGGCCACCGTG	0.652												
C12orf52	84934	broad.mit.edu	37	12	113629275	113629275	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:113629275C>T	uc001tur.1	+	4	931	c.463C>T	c.(463-465)CGC>TGC	p.R155C	C12orf52_uc009zwg.1_Missense_Mutation_p.R152C|C12orf52_uc001tus.1_Missense_Mutation_p.R155C|C12orf52_uc001tut.1_Missense_Mutation_p.R179C	NM_032848	NP_116237	Q96K30	RITA_HUMAN	hypothetical protein LOC84934	155	Interaction with RBPJ/RBPSUH.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding				0						CCACTCGCCCCGCCCCAGGGA	0.677												
KSR2	283455	broad.mit.edu	37	12	117962752	117962752	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:117962752C>A	uc001two.2	-	14	2092	c.2037G>T	c.(2035-2037)AAG>AAT	p.K679N		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	708	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)					TCACCTCCCGCTTGAAGGCCT	0.612												
GCN1L1	10985	broad.mit.edu	37	12	120583065	120583065	+	Splice_Site	SNP	C	C	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:120583065C>G	uc001txo.2	-	39	5029	c.5016_splice	c.e39+1	p.E1672_splice		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis						regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCAGACTCACCTCAGGCACA	0.582												
WDR66	144406	broad.mit.edu	37	12	122359526	122359526	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:122359526G>A	uc009zxk.2	+	2	457	c.315G>A	c.(313-315)GCG>GCA	p.A105A		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	105							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AAGTCACAGCGTCCATGATCC	0.418												
DNAH10	196385	broad.mit.edu	37	12	124333389	124333389	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:124333389C>T	uc001uft.3	+	33	5733	c.5708C>T	c.(5707-5709)ACG>ATG	p.T1903M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1903	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGATCCAGACGATCCGAAAT	0.522												
RIMBP2	23504	broad.mit.edu	37	12	130921759	130921759	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:130921759G>A	uc001uil.2	-	10	1847	c.1683C>T	c.(1681-1683)GGC>GGT	p.G561G	RIMBP2_uc001uim.2_Silent_p.G469G|RIMBP2_uc001uin.1_Silent_p.G220G	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	561	Fibronectin type-III 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)		GCACGGTCACGCCCTTGGCCT	0.687												
ULK1	8408	broad.mit.edu	37	12	132393282	132393282	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:132393282G>A	uc001uje.2	+	6	678	c.410G>A	c.(409-411)CGC>CAC	p.R137H		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	137	Protein kinase.				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)		ATCATCCACCGCGACCTGAAA	0.602												
EP400	57634	broad.mit.edu	37	12	132505665	132505665	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:132505665G>A	uc001ujn.2	+	22	4524	c.4489G>A	c.(4489-4491)GCT>ACT	p.A1497T	EP400_uc001ujl.2_Missense_Mutation_p.A1496T|EP400_uc001ujm.2_Intron	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1533					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTCCGCCAGTGCTCCACGACA	0.478												
CDK8	1024	broad.mit.edu	37	13	26956961	26956961	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:26956961A>T	uc001uqr.1	+	5	493	c.467A>T	c.(466-468)AAT>ATT	p.N156I	CDK8_uc001uqs.1_Missense_Mutation_p.N156I|CDK8_uc001uqt.1_Intron	NM_001260	NP_001251	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	156	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|large_intestine(1)|ovary(1)|skin(1)	5	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AAACCTGCTAATATTTTAGTT	0.323												
PAN3	255967	broad.mit.edu	37	13	28854577	28854577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:28854577C>T	uc001urz.2	+	15	1788	c.1780C>T	c.(1780-1782)CGA>TGA	p.R594*	PAN3_uc001ury.2_Nonsense_Mutation_p.R428*|PAN3_uc001urx.2_Nonsense_Mutation_p.R540*	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	740	Protein kinase.|Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AAACAGGATGCGAAGTGTAAA	0.373												
MAB21L1	4081	broad.mit.edu	37	13	36049748	36049748	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:36049748G>A	uc001uvc.2	-	1	1085	c.528C>T	c.(526-528)TGC>TGT	p.C176C	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	176					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)		AGATCCCGGTGCATTTAAAGG	0.597												
SOHLH2	54937	broad.mit.edu	37	13	36748981	36748981	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:36748981G>T	uc001uvj.2	-	7	756	c.667C>A	c.(667-669)CAG>AAG	p.Q223K	SOHLH2_uc010tei.1_Missense_Mutation_p.Q300K	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	223	Helix-loop-helix motif.				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)		GTACGCAGCTGCTCACAGCAA	0.383												
LPAR6	10161	broad.mit.edu	37	13	48985758	48985758	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:48985758C>T	uc010acu.2	-	1	1896	c.802G>A	c.(802-804)GCA>ACA	p.A268T	RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Missense_Mutation_p.A268T|LPAR6_uc001vcf.2_Missense_Mutation_p.A268T	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN	G-protein coupled purinergic receptor P2Y5	268	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.?(4)		ovary(4)	4						GTCCTTACTGCTGCCACTACT	0.338												
THSD1	55901	broad.mit.edu	37	13	52972169	52972169	+	Silent	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:52972169A>G	uc001vgo.2	-	3	764	c.219T>C	c.(217-219)ACT>ACC	p.T73T	THSD1_uc001vgp.2_Silent_p.T73T|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	73	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGTACTTGGTAGTTACAGTCT	0.463												
EDNRB	1910	broad.mit.edu	37	13	78477655	78477655	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:78477655T>A	uc001vko.2	-	2	829	c.571A>T	c.(571-573)AGT>TGT	p.S191C	EDNRB_uc001vkq.1_Missense_Mutation_p.S191C|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.S191C|EDNRB_uc001vkp.1_Missense_Mutation_p.S274C	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	191	Helical; Name=3; (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)	GCACATAGACTCAGCACAGTG	0.408												
SLITRK1	114798	broad.mit.edu	37	13	84453706	84453706	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:84453706C>T	uc001vlk.2	-	1	2823	c.1937G>A	c.(1936-1938)CGA>CAA	p.R646Q		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	646	Cytoplasmic (Potential).					integral to membrane		p.R646*(1)		ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGACCGCTTTCGGTTCCTCAG	0.562												
SLITRK6	84189	broad.mit.edu	37	13	86369500	86369500	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:86369500C>A	uc001vll.1	-	2	1603	c.1144G>T	c.(1144-1146)GAT>TAT	p.D382Y	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	382	Extracellular (Potential).|LRR 6.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCACTAGATCAGACTTCATT	0.378												
DCT	1638	broad.mit.edu	37	13	95095788	95095788	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:95095788C>T	uc001vlv.3	-	7	1710	c.1283G>A	c.(1282-1284)CGG>CAG	p.R428Q	DCT_uc010afh.2_Missense_Mutation_p.R461Q	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	428	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GTTGTACATCCGATTGTGACC	0.463												
HS6ST3	266722	broad.mit.edu	37	13	97485217	97485217	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:97485217G>A	uc001vmw.2	+	2	1205	c.1181G>A	c.(1180-1182)CGC>CAC	p.R394H		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	394	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GAGGGTGCCCGCCAACGCATT	0.502												
CDC16	8881	broad.mit.edu	37	13	115010376	115010376	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:115010376A>G	uc001vuk.1	+	9	977	c.779A>G	c.(778-780)AAA>AGA	p.K260R	CDC16_uc001vul.1_Missense_Mutation_p.K260R|CDC16_uc001vum.1_Missense_Mutation_p.K166R|CDC16_uc001vun.1_Missense_Mutation_p.K259R|CDC16_uc001vuo.1_Missense_Mutation_p.K259R	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	260					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GTAATGGAGAAAGATCCTTTC	0.393												
MMP14	4323	broad.mit.edu	37	14	23311785	23311785	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:23311785G>A	uc001whc.2	+	4	781	c.547G>A	c.(547-549)GAG>AAG	p.E183K		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	183	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)		CTTCTTTGCCGAGGGCTTCCA	0.612												
MYH7	4625	broad.mit.edu	37	14	23897001	23897001	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:23897001C>T	uc001wjx.2	-	16	1787	c.1681G>A	c.(1681-1683)GCC>ACC	p.A561T		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	561	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGAAGTTGGCGGATTTGCCC	0.547												
NRL	4901	broad.mit.edu	37	14	24550668	24550668	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:24550668C>T	uc001wlo.2	-	3	622	c.491G>A	c.(490-492)CGC>CAC	p.R164H	NRL_uc001wlp.2_Missense_Mutation_p.R164H|NRL_uc001wlq.2_Missense_Mutation_p.R164H	NM_006177	NP_006168	P54845	NRL_HUMAN	neural retina leucine zipper	164	Basic motif.				response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding				0				GBM - Glioblastoma multiforme(265;0.0181)		CAGCGTGCGGCGCCTCTGCTT	0.746												
ADCY4	196883	broad.mit.edu	37	14	24789068	24789068	+	Silent	SNP	G	G	A	rs146019507	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:24789068G>A	uc001wov.2	-	21	2619	c.2613C>T	c.(2611-2613)TGC>TGT	p.C871C	ADCY4_uc001wow.2_Silent_p.C871C|ADCY4_uc010toh.1_Silent_p.C557C|ADCY4_uc001wox.2_Silent_p.C871C|ADCY4_uc001woy.2_Silent_p.C871C	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	871	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)		GGACACAAACGCATTCATAGG	0.532												
FOXG1	2290	broad.mit.edu	37	14	29237592	29237592	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:29237592C>T	uc001wqe.2	+	1	1306	c.1107C>T	c.(1105-1107)AAC>AAT	p.N369N		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	369					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGCTGGTCAACGGGGAGATCC	0.682												
SDCCAG1	9147	broad.mit.edu	37	14	50262535	50262535	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:50262535C>T	uc001wxc.2	-	26	2661	c.2593G>A	c.(2593-2595)GTG>ATG	p.V865M	SDCCAG1_uc010anj.1_Missense_Mutation_p.V865M|SDCCAG1_uc001wwz.2_Missense_Mutation_p.V65M|SDCCAG1_uc001wxa.2_Missense_Mutation_p.V145M|SDCCAG1_uc010tqi.1_Missense_Mutation_p.V844M|SDCCAG1_uc001wxe.2_Missense_Mutation_p.V823M|SDCCAG1_uc001wxd.1_Missense_Mutation_p.V270M	NM_004713	NP_004704	O60524	NEMF_HUMAN	serologically defined colon cancer antigen 1	865						cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)		ATTGGCTGCACAGCCGCAACA	0.363												
SLC38A6	145389	broad.mit.edu	37	14	61519066	61519066	+	Splice_Site	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:61519066G>T	uc001xfg.1	+	16	1407	c.1291_splice	c.e16-1	p.A431_splice	SLC38A6_uc001xfh.1_Intron|SLC38A6_uc001xfi.2_Splice_Site|SLC38A6_uc001xfj.1_Splice_Site|SLC38A6_uc001xfk.2_Splice_Site|SLC38A6_uc010trz.1_Intron	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		tatttcCACAGGCATTCGTTT	0.209												
SFRS5	6430	broad.mit.edu	37	14	70235928	70235928	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:70235928G>A	uc001xll.2	+	6	1777	c.326G>A	c.(325-327)CGT>CAT	p.R109H	SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_3'UTR|SFRS5_uc001xlo.2_Missense_Mutation_p.R109H|SFRS5_uc001xlp.2_Missense_Mutation_p.R109H|SFRS5_uc001xlq.2_Missense_Mutation_p.R106H	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	splicing factor, arginine/serine-rich 5	109	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding				0				all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)		ACAGAAAATCGTCTTATAGTT	0.363												
PCNX	22990	broad.mit.edu	37	14	71517457	71517457	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:71517457C>T	uc001xmo.2	+	23	4873	c.4427C>T	c.(4426-4428)GCT>GTT	p.A1476V	PCNX_uc010are.1_Missense_Mutation_p.A1365V|PCNX_uc010arf.1_Missense_Mutation_p.A336V	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1476						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CATGCTTTTGCTCAGCCTTTT	0.398												
SIPA1L1	26037	broad.mit.edu	37	14	72090785	72090785	+	Silent	SNP	G	G	A	rs113418569		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:72090785G>A	uc001xms.2	+	4	1998	c.1650G>A	c.(1648-1650)TCG>TCA	p.S550S	SIPA1L1_uc001xmt.2_Silent_p.S550S|SIPA1L1_uc001xmu.2_Silent_p.S550S|SIPA1L1_uc001xmv.2_Silent_p.S550S|SIPA1L1_uc010ttm.1_Silent_p.S25S	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	550					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)		TGAGAGGTTCGGTCCTGGAGG	0.567												
RIN3	79890	broad.mit.edu	37	14	93119189	93119189	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:93119189C>T	uc001yap.2	+	6	1947	c.1795C>T	c.(1795-1797)CGC>TGC	p.R599C	RIN3_uc010auk.2_Missense_Mutation_p.R261C|RIN3_uc001yaq.2_Missense_Mutation_p.R524C|RIN3_uc001yar.1_Missense_Mutation_p.R261C|RIN3_uc001yas.1_Missense_Mutation_p.R261C	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	599	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)				CTCCAACAACCGCAAGCTGTA	0.577												
C14orf49	161176	broad.mit.edu	37	14	95884189	95884189	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:95884189G>A	uc001yei.3	-	17	2917	c.2902C>T	c.(2902-2904)CGC>TGC	p.R968C	C14orf49_uc010avi.2_Missense_Mutation_p.R963C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	968	KASH.|Perinuclear space (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCATTGTAGCGCAGCATGAGC	0.532												
EVL	51466	broad.mit.edu	37	14	100603983	100603983	+	Splice_Site	SNP	T	T	C	rs111897088		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:100603983T>C	uc001ygt.2	+	10	1264	c.1025_splice	c.e10+2	p.R342_splice	EVL_uc001ygv.2_Splice_Site_p.R348_splice|EVL_uc001ygu.2_Splice_Site_p.R344_splice|EVL_uc010avu.2_Splice_Site_p.R201_splice	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Enah/Vasp-like						actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			large_intestine(2)|ovary(1)	3		Melanoma(154;0.152)				TCTGTCCAGGTGAGCTGCCCC	0.607												
BEGAIN	57596	broad.mit.edu	37	14	101004414	101004414	+	Silent	SNP	A	A	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:101004414A>C	uc010txa.1	-	6	1820	c.1674T>G	c.(1672-1674)CCT>CCG	p.P558P	BEGAIN_uc001yhp.2_Silent_p.P494P|BEGAIN_uc001yhq.2_Silent_p.P558P	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	558						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				GGCGGGCGGCAGGATGCATTT	0.692												
PPP2R5C	5527	broad.mit.edu	37	14	102391579	102391579	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:102391579C>T	uc001yko.2	+	14	1685	c.1545C>T	c.(1543-1545)GCC>GCT	p.A515A	PPP2R5C_uc010txr.1_Silent_p.A546A|PPP2R5C_uc001ykk.2_Silent_p.A531A|PPP2R5C_uc001ykp.2_Silent_p.A476A	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	515					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						ACTGCAGGGCCGATGAGCTGG	0.483												
TECPR2	9895	broad.mit.edu	37	14	102891540	102891540	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:102891540A>G	uc001ylw.1	+	6	1011	c.863A>G	c.(862-864)CAC>CGC	p.H288R	TECPR2_uc010txw.1_3'UTR|TECPR2_uc010awl.2_Missense_Mutation_p.H288R|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	288							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						CCTGAGAGGCACCTGGGGCTT	0.478												
RYR3	6263	broad.mit.edu	37	15	33765705	33765705	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:33765705G>A	uc001zhi.2	+	2	207	c.137G>A	c.(136-138)CGC>CAC	p.R46H	RYR3_uc010bar.2_Missense_Mutation_p.R46H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	46	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)		CTTGGGAATCGCCTGTGCTTC	0.547												
RYR3	6263	broad.mit.edu	37	15	34110852	34110852	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:34110852T>C	uc001zhi.2	+	76	10743	c.10673T>C	c.(10672-10674)CTC>CCC	p.L3558P	RYR3_uc010bar.2_Missense_Mutation_p.L3553P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3558					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)		CAGATCATTCTCTATTTTAGC	0.493												
ACTC1	70	broad.mit.edu	37	15	35086888	35086888	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:35086888C>T	uc001ziu.1	-	2	365	c.122G>A	c.(121-123)CGG>CAG	p.R41Q	uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	41					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TACCTGGTGCCGCGGGCGGCC	0.667												
THBS1	7057	broad.mit.edu	37	15	39874882	39874882	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:39874882G>A	uc001zkh.2	+	3	735	c.556G>A	c.(556-558)GTC>ATC	p.V186I		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	186	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CATCCAAAGCGTCTTCACCAG	0.562												
PAK6	56924	broad.mit.edu	37	15	40565645	40565645	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:40565645A>G	uc010bbl.2	+	8	2029	c.1589A>G	c.(1588-1590)GAC>GGC	p.D530G	PAK6_uc010bbm.2_Missense_Mutation_p.D530G|PAK6_uc001zky.3_Missense_Mutation_p.D530G|PAK6_uc010bbn.2_Missense_Mutation_p.D530G|PAK6_uc001zlb.2_Missense_Mutation_p.D530G	NM_001128628	NP_001122100	Q9NQU5	PAK6_HUMAN	p21-activated kinase 6	530	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(5)|large_intestine(1)|ovary(1)|skin(1)	8		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ATCAAGAGTGACTCCATCCTG	0.592												
MAP1A	4130	broad.mit.edu	37	15	43815956	43815956	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:43815956G>A	uc001zrt.2	+	4	2752	c.2285G>A	c.(2284-2286)CGC>CAC	p.R762H		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	762						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		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)	CCGGAGGAGCGCCCAGCTCCA	0.547												
PPIP5K1	9677	broad.mit.edu	37	15	43827565	43827565	+	Silent	SNP	G	G	A	rs142076434	by1000genomes	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:43827565G>A	uc001zrw.2	-	31	3792	c.3609C>T	c.(3607-3609)CAC>CAT	p.H1203H	PPIP5K1_uc001zrx.1_Silent_p.H1176H|PPIP5K1_uc001zru.2_Silent_p.H1178H|PPIP5K1_uc001zry.3_Silent_p.H1178H|PPIP5K1_uc001zrv.2_Intron	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	histidine acid phosphatase domain containing 2A	1203					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity				0						CTTCAGCCACGTGTGAATTTA	0.522												
B2M	567	broad.mit.edu	37	15	45007740	45007740	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:45007740G>T	uc001zuc.2	+	2	247	c.187G>T	c.(187-189)GGA>TGA	p.G63*	B2M_uc010uek.1_Nonsense_Mutation_p.G63*|B2M_uc010bdx.1_Nonsense_Mutation_p.G63*	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	63	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ACTGAAGAATGGAGAGAGAAT	0.408												
SLC12A1	6557	broad.mit.edu	37	15	48522654	48522654	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:48522654T>C	uc001zwn.3	+	7	1145	c.929T>C	c.(928-930)GTG>GCG	p.V310A	SLC12A1_uc010uew.1_Missense_Mutation_p.V116A|SLC12A1_uc010bem.2_Missense_Mutation_p.V310A|SLC12A1_uc010uex.1_Missense_Mutation_p.V310A|SLC12A1_uc001zwq.3_Missense_Mutation_p.V81A|SLC12A1_uc001zwr.3_Missense_Mutation_p.V37A	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	310	Helical; (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)	ATCACAGTGGTGATTCTTCTA	0.413												
NARG2	79664	broad.mit.edu	37	15	60740216	60740216	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:60740216T>C	uc002agp.2	-	11	2483	c.2248A>G	c.(2248-2250)AGG>GGG	p.R750G	NARG2_uc002ago.2_Missense_Mutation_p.R613G|NARG2_uc002agq.3_Intron	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	750						nucleus				ovary(1)|lung(1)	2						GTCTCTATCCTCTGGACACTG	0.368												
HERC1	8925	broad.mit.edu	37	15	64020012	64020012	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:64020012G>A	uc002amp.2	-	17	3328	c.3180C>T	c.(3178-3180)GGC>GGT	p.G1060G	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1060					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						AGAGCATACTGCCAGCAGCTG	0.413												
GOLGA6B	55889	broad.mit.edu	37	15	72953615	72953615	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:72953615G>A	uc010uks.1	+	8	616	c.575G>A	c.(574-576)TGC>TAC	p.C192Y		NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	golgi autoantigen, golgin subfamily a, 6B	192	Potential.										0						TCCTCGAGCTGCAGAGAAGCG	0.567												
HCN4	10021	broad.mit.edu	37	15	73617684	73617684	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:73617684G>A	uc002avp.2	-	5	2686	c.1692C>T	c.(1690-1692)TTC>TTT	p.F564F		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	564	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		TCTCCTCGTCGAACATCTTGC	0.657												
COMMD4	54939	broad.mit.edu	37	15	75631397	75631397	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:75631397G>A	uc002azy.2	+	5	310	c.253G>A	c.(253-255)GAT>AAT	p.D85N	COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.2_Silent_p.S67S|COMMD4_uc002baa.2_Missense_Mutation_p.D85N|COMMD4_uc010umg.1_3'UTR|COMMD4_uc010umh.1_RNA	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	85						cytoplasm	protein binding				0						GCACAGTGTCGATGGCGAATC	0.632												
SGK269	79834	broad.mit.edu	37	15	77473383	77473383	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:77473383G>A	uc002bcm.2	-	3	1194	c.886C>T	c.(886-888)CTG>TTG	p.L296L	SGK269_uc002bcn.2_Silent_p.L296L	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	296					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		TTGTTTCGCAGGGGGATGGTA	0.448												
IREB2	3658	broad.mit.edu	37	15	78778082	78778082	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:78778082C>T	uc002bdr.2	+	13	1771	c.1609C>T	c.(1609-1611)CGT>TGT	p.R537C	IREB2_uc010unb.1_Missense_Mutation_p.R287C	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	537							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGCTGGTCTGCGTGTTAAACC	0.393												
ZFAND6	54469	broad.mit.edu	37	15	80412779	80412779	+	Silent	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:80412779A>G	uc002bfe.1	+	3	404	c.93A>G	c.(91-93)TCA>TCG	p.S31S	ZFAND6_uc002bff.1_Silent_p.S31S|ZFAND6_uc002bfg.1_Silent_p.S31S|ZFAND6_uc002bfh.1_Silent_p.S31S|ZFAND6_uc002bfi.1_Silent_p.S31S	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	31	A20-type.						DNA binding|zinc ion binding				0						GCATGTGTTCAGTATGCTATA	0.393												
CPEB1	64506	broad.mit.edu	37	15	83215935	83215935	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:83215935G>A	uc002bit.2	-	10	1784	c.1647C>T	c.(1645-1647)AGC>AGT	p.S549S	CPEB1_uc002biq.2_Silent_p.S409S|CPEB1_uc002bir.2_Silent_p.S414S|CPEB1_uc002bis.2_Silent_p.S409S|CPEB1_uc010uod.1_Silent_p.S258S|CPEB1_uc010uoe.1_Silent_p.S487S|CPEB1_uc002biu.2_Silent_p.S511S|CPEB1_uc010uof.1_Silent_p.S409S|CPEB1_uc002biv.2_Silent_p.S484S|CPEB1_uc002bip.2_Silent_p.S258S	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	489	RRM 2.|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)			CAAAAGCAGCGCTGACTGCTT	0.463												
FSD2	123722	broad.mit.edu	37	15	83456139	83456139	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:83456139C>G	uc002bjd.2	-	2	171	c.4G>C	c.(4-6)GAG>CAG	p.E2Q	FSD2_uc010uol.1_Missense_Mutation_p.E2Q|FSD2_uc010uom.1_Missense_Mutation_p.E2Q	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	2										central_nervous_system(1)	1						GATTCCTCCTCCATTGTAACT	0.478												
BNC1	646	broad.mit.edu	37	15	83926569	83926569	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:83926569G>A	uc002bjt.1	-	5	2698	c.2610C>T	c.(2608-2610)AGC>AGT	p.S870S	BNC1_uc010uos.1_Silent_p.S858S	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	870	Ser-rich.				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AGGAAGAATGGCTGCTACTCT	0.572												
FANCI	55215	broad.mit.edu	37	15	89844613	89844613	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:89844613C>T	uc010bnp.1	+	27	3036	c.2946C>T	c.(2944-2946)GCC>GCT	p.A982A	FANCI_uc002bnm.1_Silent_p.A922A|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.A743A|FANCI_uc002bnq.1_Silent_p.A395A	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	982					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCAAAGAAGCCCTCCTGCTAG	0.453								Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
ADAMTS17	170691	broad.mit.edu	37	15	100591781	100591781	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:100591781G>A	uc002bvv.1	-	17	2530	c.2451C>T	c.(2449-2451)GGC>GGT	p.G817G		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	817	TSP type-1 2.				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)		ACTCACCTCCGCCGCACTGCA	0.567												
PDIA2	64714	broad.mit.edu	37	16	336417	336417	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:336417G>A	uc002cgn.1	+	13	2292	c.1184G>A	c.(1183-1185)GGC>GAC	p.G395D	PDIA2_uc010bqt.1_Missense_Mutation_p.G240D|PDIA2_uc002cgo.1_Missense_Mutation_p.G395D	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	395	Thioredoxin 2.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			central_nervous_system(1)|skin(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				ACCCTCGTGGGCAAGAATTTT	0.577												
DNAJA3	9093	broad.mit.edu	37	16	4487404	4487404	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:4487404T>C	uc002cwk.2	+	3	372	c.347T>C	c.(346-348)CTT>CCT	p.L116P	DNAJA3_uc002cwl.2_Missense_Mutation_p.L116P|DNAJA3_uc010uxk.1_Intron	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	116	J.				activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			ovary(2)|breast(2)	4						TTCCCTTAGCTTGCCAAGAAG	0.438												
A2BP1	54715	broad.mit.edu	37	16	7568167	7568167	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:7568167G>A	uc002cys.2	+	5	1034	c.46G>A	c.(46-48)GCT>ACT	p.A16T	A2BP1_uc010buf.1_Missense_Mutation_p.A16T|A2BP1_uc002cyr.1_Missense_Mutation_p.A16T|A2BP1_uc002cyt.2_Missense_Mutation_p.A16T|A2BP1_uc010uxz.1_Missense_Mutation_p.A59T|A2BP1_uc010uya.1_Missense_Mutation_p.A52T|A2BP1_uc002cyv.1_Missense_Mutation_p.A16T|A2BP1_uc010uyb.1_Missense_Mutation_p.A16T|A2BP1_uc002cyw.2_Missense_Mutation_p.A36T|A2BP1_uc002cyy.2_Missense_Mutation_p.A36T|A2BP1_uc002cyx.2_Missense_Mutation_p.A36T|A2BP1_uc010uyc.1_Missense_Mutation_p.A36T	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	16					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		GGAAGCAGCCGCTGCCCCTGA	0.592												
EMP2	2013	broad.mit.edu	37	16	10626816	10626816	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:10626816G>A	uc002czx.2	-	5	644	c.450C>T	c.(448-450)TTC>TTT	p.F150F		NM_001424	NP_001415	P54851	EMP2_HUMAN	epithelial membrane protein 2	150	Helical; (Potential).				cell proliferation	integral to membrane					0						AGGTGCAGGCGAAGGCCACCC	0.532												
PDXDC1	23042	broad.mit.edu	37	16	15129376	15129376	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:15129376G>A	uc002dda.3	+	22	2297	c.2073G>A	c.(2071-2073)ACG>ACA	p.T691T	PDXDC1_uc010uzl.1_Silent_p.T676T|PDXDC1_uc010uzm.1_Silent_p.T600T|PDXDC1_uc002ddb.3_Silent_p.T664T|PDXDC1_uc010uzn.1_Silent_p.T663T|PDXDC1_uc002ddc.2_Intron	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	691					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	TGCCTCCAACGCCCTCGGGCA	0.567												
ABCC6	368	broad.mit.edu	37	16	16248503	16248503	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:16248503T>C	uc002den.3	-	29	4227	c.4190A>G	c.(4189-4191)GAC>GGC	p.D1397G	ABCC6_uc010bvo.2_RNA|ABCC6_uc002dem.2_Missense_Mutation_p.D149G	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	1397	Cytoplasmic (By similarity).|ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTCGCCTCGGTCAGCACACTT	0.647												
TMC7	79905	broad.mit.edu	37	16	19056283	19056283	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:19056283A>T	uc002dfq.2	+	10	1545	c.1415A>T	c.(1414-1416)GAC>GTC	p.D472V	TMC7_uc010vao.1_3'UTR|TMC7_uc002dfp.2_Missense_Mutation_p.D472V|TMC7_uc010vap.1_Missense_Mutation_p.D362V	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	472	Cytoplasmic (Potential).					integral to membrane				skin(2)|ovary(1)	3						TGTGATGATGACACATGTGAC	0.567												
GP2	2813	broad.mit.edu	37	16	20335551	20335551	+	Missense_Mutation	SNP	G	G	A	rs140222432		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:20335551G>A	uc002dgv.2	-	3	205	c.122C>T	c.(121-123)TCG>TTG	p.S41L	GP2_uc002dgw.2_Missense_Mutation_p.S41L|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	41						anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						CAGCCCATACGAACTGGCTTC	0.532												
ARHGAP17	55114	broad.mit.edu	37	16	24965987	24965987	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:24965987G>A	uc002dnb.2	-	10	882	c.789C>T	c.(787-789)CGC>CGT	p.R263R	ARHGAP17_uc002dna.2_5'UTR|ARHGAP17_uc002dnc.2_Silent_p.R263R|ARHGAP17_uc010vcf.1_Silent_p.R84R|ARHGAP17_uc002dnf.2_Silent_p.R171R|ARHGAP17_uc002dng.1_3'UTR	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	263	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GCGCAATCTCGCGCCCGCTCC	0.542												
GTF3C1	2975	broad.mit.edu	37	16	27501011	27501011	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:27501011C>T	uc002dov.1	-	20	3245	c.3205G>A	c.(3205-3207)GAC>AAC	p.D1069N	GTF3C1_uc002dou.2_Missense_Mutation_p.D1069N	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1069						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCCTCCTCGTCGCTGCCCTGG	0.627												
GTF3C1	2975	broad.mit.edu	37	16	27506648	27506648	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:27506648G>A	uc002dov.1	-	15	2556	c.2516C>T	c.(2515-2517)GCA>GTA	p.A839V	GTF3C1_uc002dou.2_Missense_Mutation_p.A839V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	839						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCGGACGCCTGCCCTGCCTGA	0.592												
SH2B1	25970	broad.mit.edu	37	16	28884771	28884771	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:28884771C>T	uc002dri.2	+	11	2340	c.1901C>T	c.(1900-1902)CCG>CTG	p.P634L	uc010vct.1_Intron|SH2B1_uc010vdc.1_3'UTR|SH2B1_uc002drj.2_3'UTR|SH2B1_uc002drk.2_Silent_p.T667T|SH2B1_uc002drl.2_Missense_Mutation_p.P634L|SH2B1_uc010vdd.1_Silent_p.T331T|SH2B1_uc010vde.1_Silent_p.T667T|SH2B1_uc002drm.2_Silent_p.T667T	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	634					blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						TATCCAGAACCGACCACCTCC	0.632												
SEZ6L2	26470	broad.mit.edu	37	16	29891310	29891310	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:29891310G>T	uc002duq.3	-	9	1688	c.1448C>A	c.(1447-1449)CCA>CAA	p.P483Q	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.P413Q|SEZ6L2_uc002dur.3_Missense_Mutation_p.P413Q|SEZ6L2_uc002dus.3_Missense_Mutation_p.P369Q|SEZ6L2_uc010vec.1_Missense_Mutation_p.P483Q|SEZ6L2_uc010ved.1_Missense_Mutation_p.P439Q	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	483	Sushi 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						CAGTGCCCCTGGGCGATACTC	0.597												
MAPK3	5595	broad.mit.edu	37	16	30129770	30129770	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:30129770T>C	uc002dws.2	-	3	543	c.443A>G	c.(442-444)TAC>TGC	p.Y148C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.Y34C|MAPK3_uc002dwv.3_Missense_Mutation_p.Y148C|MAPK3_uc002dwt.2_Missense_Mutation_p.Y148C|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	NM_002746	NP_002737	P27361	MK03_HUMAN	mitogen-activated protein kinase 3 isoform 1	148	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding				0					Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CAGGATCTGGTAGAGGAAGTA	0.532												
SRCAP	10847	broad.mit.edu	37	16	30724848	30724848	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:30724848G>A	uc002dze.1	+	16	2694	c.2309G>A	c.(2308-2310)CGC>CAC	p.R770H	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R627H|SRCAP_uc010bzz.1_Missense_Mutation_p.R340H	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	770	Helicase ATP-binding.				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)			AGCCAGAGACGCCTGCTCCTG	0.527												
RNF40	9810	broad.mit.edu	37	16	30783165	30783165	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:30783165C>T	uc002dzq.2	+	18	2721	c.2598C>T	c.(2596-2598)GCC>GCT	p.A866A	RNF40_uc010caa.2_Silent_p.A866A|RNF40_uc010cab.2_Silent_p.A766A|RNF40_uc010vfa.1_Silent_p.A198A|RNF40_uc002dzr.2_Silent_p.A866A|RNF40_uc010vfb.1_Silent_p.A558A|RNF40_uc010vfc.1_Silent_p.A198A	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	866	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)			CTGTAGAAGCCGCCCAGCTGG	0.642												
ZNF646	9726	broad.mit.edu	37	16	31088710	31088710	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:31088710G>A	uc002eap.2	+	2	1354	c.1065G>A	c.(1063-1065)GCG>GCA	p.A355A		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						ATGGCTCTGCGGAGCTCAGCA	0.632												
ITGAX	3687	broad.mit.edu	37	16	31391130	31391130	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:31391130C>A	uc002ebu.1	+	25	2988	c.2921C>A	c.(2920-2922)CCT>CAT	p.P974H	ITGAX_uc002ebt.2_Missense_Mutation_p.P974H	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	974	Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TTCTGGGTGCCTGTGGAGCTG	0.597												
IRX6	79190	broad.mit.edu	37	16	55362817	55362817	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:55362817C>T	uc002ehy.2	+	5	1460	c.927C>T	c.(925-927)TGC>TGT	p.C309C	IRX6_uc002ehx.2_Silent_p.C309C	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	309						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						GCAGGGAGTGCGGCCTGGCTG	0.657												
NLRC5	84166	broad.mit.edu	37	16	57059720	57059720	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:57059720G>A	uc002ekk.1	+	6	1090	c.865G>A	c.(865-867)GAC>AAC	p.D289N	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.D94N|NLRC5_uc002ekl.2_Missense_Mutation_p.D94N|NLRC5_uc002ekm.2_Missense_Mutation_p.D94N|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	289	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of 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)				ATCGGACCACGACACTGTCTT	0.542												
GPR114	221188	broad.mit.edu	37	16	57609003	57609003	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:57609003C>T	uc002elx.3	+	11	1570	c.1485C>T	c.(1483-1485)TAC>TAT	p.Y495Y	GPR114_uc010vhr.1_3'UTR|GPR114_uc002ely.2_Silent_p.Y495Y	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	495	Helical; Name=7; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						ACTCGCTCTACGGTAGGGCTG	0.438												
TEPP	374739	broad.mit.edu	37	16	58019124	58019124	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:58019124G>A	uc002emw.3	+	5	677	c.640G>A	c.(640-642)GGC>AGC	p.G214S	TEPP_uc002emv.3_Missense_Mutation_p.G214S	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN	testis/prostate/placenta-expressed protein	214						extracellular region				kidney(1)|central_nervous_system(1)|skin(1)	3						GGGTCTCAGCGGCTACGCGGT	0.701												
ZNF319	57567	broad.mit.edu	37	16	58030956	58030956	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:58030956T>C	uc002emx.1	-	2	1837	c.1214A>G	c.(1213-1215)CAG>CGG	p.Q405R		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	405	C2H2-type 11; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAGCCTTTCTGGCACACGGG	0.622												
C16orf57	79650	broad.mit.edu	37	16	58048222	58048222	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:58048222G>T	uc002emz.2	+	4	578	c.495G>T	c.(493-495)GAG>GAT	p.E165D	C16orf57_uc010vib.1_Intron	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	hypothetical protein LOC79650	165											0						CCAATCAAGAGAAAACCAGGT	0.378												
CSNK2A2	1459	broad.mit.edu	37	16	58200504	58200504	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:58200504T>C	uc002enc.2	-	9	953	c.811A>G	c.(811-813)AAC>GAC	p.N271D		NM_001896	NP_001887	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	271	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						AGGATATCGTTGAAGTGTGGA	0.423												
CDH11	1009	broad.mit.edu	37	16	64981668	64981668	+	Silent	SNP	G	G	A	rs145843219	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:64981668G>A	uc002eoi.2	-	13	2663	c.2229C>T	c.(2227-2229)TAC>TAT	p.Y743Y	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Silent_p.Y617Y	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	743	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTTCATAACCGTAGATTTGAA	0.537			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
CDH5	1003	broad.mit.edu	37	16	66436824	66436824	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:66436824G>A	uc002eom.3	+	12	2263	c.2107G>A	c.(2107-2109)GGG>AGG	p.G703R		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	703	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CGGAGGGCCCGGGGAGATGGC	0.602												
HSF4	3299	broad.mit.edu	37	16	67199720	67199720	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:67199720G>A	uc002erl.1	+	5	1296	c.331G>A	c.(331-333)GAG>AAG	p.E111K	HSF4_uc002erm.1_Missense_Mutation_p.E111K|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	111	By similarity.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCGCGGCCGCGAGCAGCTACT	0.687												
RLTPR	146206	broad.mit.edu	37	16	67681263	67681263	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:67681263T>C	uc002etn.2	+	10	869	c.749T>C	c.(748-750)CTG>CCG	p.L250P	RLTPR_uc010cel.1_Missense_Mutation_p.L250P|RLTPR_uc010vjr.1_Missense_Mutation_p.L250P	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	250	LRR 3.									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)		CTGGAGGAGCTGGTGCTGGAG	0.637												
SLC12A4	6560	broad.mit.edu	37	16	67981986	67981986	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:67981986G>A	uc002euz.2	-	14	1966	c.1825C>T	c.(1825-1827)CCC>TCC	p.P609S	SLC12A4_uc010ceu.2_Missense_Mutation_p.P603S|SLC12A4_uc010vkh.1_Missense_Mutation_p.P578S|SLC12A4_uc010vki.1_Missense_Mutation_p.P609S|SLC12A4_uc010vkj.1_Missense_Mutation_p.P611S|SLC12A4_uc002eva.2_Missense_Mutation_p.P609S|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_RNA	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN	solute carrier family 12, member 4 isoform a	609	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)	TTGAACCGGGGCCGCCAGTTG	0.617												
ESRP2	80004	broad.mit.edu	37	16	68266678	68266678	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:68266678G>A	uc010cfa.1	-	6	884	c.696C>T	c.(694-696)TAC>TAT	p.Y232Y	ESRP2_uc002evp.1_RNA|ESRP2_uc002evq.1_Silent_p.Y232Y	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B	232					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						GCCCCGTCTCGTATTTCTGCT	0.577												
SF3B3	23450	broad.mit.edu	37	16	70605703	70605703	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:70605703G>A	uc002ezf.2	+	26	3852	c.3641G>A	c.(3640-3642)CGC>CAC	p.R1214H		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	1214					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				ATCCGGACCCGCTACGCCTTC	0.552												
CALB2	794	broad.mit.edu	37	16	71411638	71411638	+	Silent	SNP	C	C	T	rs146835226		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:71411638C>T	uc002faa.3	+	4	400	c.330C>T	c.(328-330)GCC>GCT	p.A110A	CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Silent_p.A110A	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	110	EF-hand 3.			A -> T (in Ref. 5; AAH15484).			calcium ion binding				0		Ovarian(137;0.125)				GCTCCAGCGCCGAGTTTATGG	0.567												
PHLPP2	23035	broad.mit.edu	37	16	71683913	71683913	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:71683913C>T	uc002fax.2	-	18	2858	c.2852G>A	c.(2851-2853)CGG>CAG	p.R951Q	PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Missense_Mutation_p.R884Q	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	951	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						GCCCAGCATCCGGGTACAGCA	0.483												
LDHD	197257	broad.mit.edu	37	16	75147447	75147447	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:75147447G>A	uc002fdm.2	-	8	1188	c.1141C>T	c.(1141-1143)CGG>TGG	p.R381W	LDHD_uc002fdn.2_Missense_Mutation_p.R358W	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	D-lactate dehydrogenase isoform 1 precursor	381							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding				0						CAGCCTGGCCGCGTGGCCAGG	0.657												
GAN	8139	broad.mit.edu	37	16	81410860	81410860	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:81410860C>T	uc002fgo.2	+	10	1687	c.1539C>T	c.(1537-1539)CCC>CCT	p.P513P		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	513	Kelch 5.				cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				TATGCATCCCCGCCAGTTCCT	0.388												
JPH3	57338	broad.mit.edu	37	16	87636903	87636903	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:87636903G>A	uc002fkd.2	+	1	405	c.151G>A	c.(151-153)GGC>AGC	p.G51S	JPH3_uc010vou.1_Intron	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	51	Gly-rich.|Cytoplasmic (Potential).|MORN 2.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGAGGTGCTGGGCGTCTACAC	0.687												
BANP	54971	broad.mit.edu	37	16	88014676	88014676	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:88014676C>T	uc002fkr.2	+	3	326	c.102C>T	c.(100-102)GAC>GAT	p.D34D	BANP_uc002fkp.2_Silent_p.D35D|BANP_uc002fkq.2_Silent_p.D35D|BANP_uc010vow.1_Silent_p.D34D|BANP_uc002fks.3_Silent_p.D34D|BANP_uc002fko.1_Translation_Start_Site|BANP_uc010vov.1_Silent_p.D40D	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	35					cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CAGATGAAGACGAACCTGCTT	0.353												
CDT1	81620	broad.mit.edu	37	16	88872202	88872202	+	Missense_Mutation	SNP	C	C	T	rs143284523		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:88872202C>T	uc002flu.2	+	5	811	c.757C>T	c.(757-759)CGC>TGC	p.R253C		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor	253					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)		CCGCCAGGAGCGCAGTGTCCC	0.627												
ACSF3	197322	broad.mit.edu	37	16	89211763	89211763	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:89211763C>T	uc002fmp.2	+	9	1795	c.1455C>T	c.(1453-1455)AGC>AGT	p.S485S	ACSF3_uc010cig.1_Silent_p.S485S|ACSF3_uc010cih.1_Silent_p.S220S|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Silent_p.S220S	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	485					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)		ACAAGGTCAGCGCCCTGGAGG	0.632												
KIAA0664	23277	broad.mit.edu	37	17	2607758	2607758	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:2607758G>A	uc002fuy.1	-	2	173	c.87C>T	c.(85-87)GCC>GCT	p.A29A	KIAA0664_uc002fux.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	29							binding			breast(2)	2						CTCCCGGGCCGGCCTCGTCAA	0.622												
OR1E1	8387	broad.mit.edu	37	17	3301497	3301497	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:3301497C>A	uc002fvj.1	-	1	208	c.208G>T	c.(208-210)GAC>TAC	p.D70Y		NM_003553	NP_003544	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAGCAGAGGTCAGAGAAGGAC	0.507												
SPNS3	201305	broad.mit.edu	37	17	4391167	4391167	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:4391167G>A	uc002fxt.2	+	12	1561	c.1517G>A	c.(1516-1518)GGC>GAC	p.G506D	SPNS3_uc002fxu.2_Missense_Mutation_p.G379D|SPNS3_uc002fxv.2_Missense_Mutation_p.G157D|uc002fxw.1_5'Flank	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	506					lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1						TCGGGCGCTGGCGCCTCTACA	0.622												
KDM6B	23135	broad.mit.edu	37	17	7750590	7750590	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:7750590C>T	uc002giw.1	+	10	1453	c.1077C>T	c.(1075-1077)GAC>GAT	p.D359D	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	359	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						CCGGAAGTGACCTTAGAGAGA	0.711												
CHD3	1107	broad.mit.edu	37	17	7798346	7798346	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:7798346G>A	uc002gje.2	+	9	1531	c.1381G>A	c.(1381-1383)GTA>ATA	p.V461I	CHD3_uc002gjd.2_Missense_Mutation_p.V520I|CHD3_uc002gjf.2_Missense_Mutation_p.V461I|CHD3_uc002gjg.1_Missense_Mutation_p.V289I	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	461	PHD-type 2.				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)				GTACTGCCGCGTATGCAAGGA	0.403												
GUCY2D	3000	broad.mit.edu	37	17	7907409	7907409	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:7907409G>A	uc002gjt.2	+	3	1035	c.961G>A	c.(961-963)GTG>ATG	p.V321M		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	321	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TGAAGGCAGCGTGCTGGACAG	0.682												
MYH10	4628	broad.mit.edu	37	17	8445549	8445549	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:8445549T>A	uc002gll.2	-	13	1547	c.1451A>T	c.(1450-1452)CAG>CTG	p.Q484L	MYH10_uc002glm.2_Missense_Mutation_p.Q494L|MYH10_uc010cnx.2_Missense_Mutation_p.Q493L	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	484	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						GAACAGCTGCTGCAGCTTCTC	0.463												
MYH8	4626	broad.mit.edu	37	17	10300185	10300185	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:10300185G>T	uc002gmm.2	-	31	4392	c.4297C>A	c.(4297-4299)CTT>ATT	p.L1433I	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1433	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						TCCACATCAAGCATGAGGTCT	0.468									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
DNAH9	1770	broad.mit.edu	37	17	11648225	11648225	+	Missense_Mutation	SNP	C	C	T	rs145963208		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:11648225C>T	uc002gne.2	+	31	6291	c.6223C>T	c.(6223-6225)CGG>TGG	p.R2075W	DNAH9_uc010coo.2_Missense_Mutation_p.R1369W	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2075					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCGCTCCTTGCGGGATTTCAA	0.612												
RAB11FIP4	84440	broad.mit.edu	37	17	29857481	29857481	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:29857481C>T	uc002hgn.1	+	14	2020	c.1791C>T	c.(1789-1791)CGC>CGT	p.R597R	RAB11FIP4_uc002hgo.2_Silent_p.R495R	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	597	Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.|FIP-RBD.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CCGCCTCGCGCGATGAGGTAA	0.587												
SLFN12	55106	broad.mit.edu	37	17	33738926	33738926	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:33738926A>G	uc002hji.3	-	4	1545	c.1168T>C	c.(1168-1170)TAT>CAT	p.Y390H	SLFN12_uc002hjj.3_Missense_Mutation_p.Y390H|SLFN12_uc010cts.2_Missense_Mutation_p.Y390H	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	390							ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGGAGTATACGTTATCCTT	0.279												
SRCIN1	80725	broad.mit.edu	37	17	36707581	36707581	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:36707581C>T	uc002hqd.2	-	15	2997	c.2772G>A	c.(2770-2772)CAG>CAA	p.Q924Q	SRCIN1_uc002hqf.1_Silent_p.Q796Q|SRCIN1_uc002hqe.2_Silent_p.Q778Q	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	796					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						TGGCACTGTACTGGGTCAGGG	0.617												
C17orf98	388381	broad.mit.edu	37	17	36997562	36997562	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:36997562G>A	uc002hqv.2	-	1	81	c.81C>T	c.(79-81)CGC>CGT	p.R27R		NM_001080465	NP_001073934	A8MV24	CQ098_HUMAN	hypothetical protein LOC388381	27											0						GCCCATAAGCGCGGGCAGCGG	0.637												
KRT20	54474	broad.mit.edu	37	17	39041120	39041120	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:39041120G>A	uc002hvl.2	-	1	360	c.318C>T	c.(316-318)TAC>TAT	p.Y106Y		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	106	Rod.|Linker 1.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)				CGTTGGTTTCGTACCACTGCT	0.502												
KRTAP4-3	85290	broad.mit.edu	37	17	39324352	39324352	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:39324352A>G	uc010cxl.2	-	1	73	c.73T>C	c.(73-75)TGC>CGC	p.C25R		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	25						keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CTGGGGCGGCAGCAGCTCTCC	0.458												
NAGLU	4669	broad.mit.edu	37	17	40695347	40695347	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:40695347G>A	uc002hzv.2	+	6	1663	c.1323G>A	c.(1321-1323)ACG>ACA	p.T441T		NM_000263	NP_000254	P54802	ANAG_HUMAN	alpha-N-acetylglucosaminidase precursor	441						lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TGGTAGGCACGGGCATGGCCC	0.607												
VAT1	10493	broad.mit.edu	37	17	41170633	41170633	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:41170633T>C	uc002icm.1	-	2	691	c.571A>G	c.(571-573)AGC>GGC	p.S191G	VAT1_uc010cyw.1_Missense_Mutation_p.S57G|VAT1_uc010whk.1_Missense_Mutation_p.S123G	NM_006373	NP_006364	Q99536	VAT1_HUMAN	vesicle amine transport protein 1	191						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACCAAGACGCTGTGGCCAGGC	0.557												
EFTUD2	9343	broad.mit.edu	37	17	42931922	42931922	+	Splice_Site	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:42931922A>G	uc002ihn.2	-	22	2520	c.2259_splice	c.e22+1	p.E753_splice	EFTUD2_uc010wje.1_Splice_Site_p.E718_splice|EFTUD2_uc010wjf.1_Splice_Site_p.E743_splice	NM_004247	NP_004238	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain							Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)				GTTCTGCTGTACCTCAGAGGG	0.517												
GFAP	2670	broad.mit.edu	37	17	42992593	42992593	+	Missense_Mutation	SNP	G	G	A	rs61622935		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:42992593G>A	uc002ihq.2	-	1	322	c.262C>T	c.(262-264)CGC>TGC	p.R88C	GFAP_uc002ihr.2_Missense_Mutation_p.R88C|GFAP_uc010wjg.1_RNA	NM_002055	NP_002046	P14136	GFAP_HUMAN	glial fibrillary acidic protein isoform 1	88	Rod.|Coil 1A.		R -> S (in ALEXD).			cytoplasm|intermediate filament	structural constituent of cytoskeleton			ovary(1)|pancreas(1)	2		Prostate(33;0.0959)				TCCAGGAAGCGAACCTTCTCG	0.612												
PLEKHM1	9842	broad.mit.edu	37	17	43552532	43552532	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:43552532T>C	uc002ija.2	-	4	1027	c.857A>G	c.(856-858)GAG>GGG	p.E286G	PLEKHM1_uc010wjm.1_Missense_Mutation_p.E258G|PLEKHM1_uc002ijb.2_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.E235G	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M	286					intracellular signal transduction	cytoplasm	metal ion binding				0	Renal(3;0.0405)					GGACATGGGCTCCTCGCAATG	0.527												
WNT9B	7484	broad.mit.edu	37	17	44952694	44952694	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:44952694G>A	uc002ikw.1	+	3	599	c.562G>A	c.(562-564)GCA>ACA	p.A188T	WNT9B_uc002ikx.1_Missense_Mutation_p.A188T	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	188					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGACCTGCGGGCACGGGCAGA	0.622												
HOXB3	3213	broad.mit.edu	37	17	46627823	46627823	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:46627823G>T	uc002inn.2	-	2	1569	c.1169C>A	c.(1168-1170)CCC>CAC	p.P390H	HOXB3_uc010wlm.1_Missense_Mutation_p.P317H|HOXB3_uc010dbf.2_Missense_Mutation_p.P390H|HOXB3_uc010dbg.2_Missense_Mutation_p.P390H|HOXB3_uc002ino.2_Missense_Mutation_p.P390H|HOXB3_uc010wlk.1_Missense_Mutation_p.P258H|HOXB3_uc010wll.1_Missense_Mutation_p.P317H	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	390					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CGCCATAGGGGGCGCCCCGTT	0.672											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SPOP	8405	broad.mit.edu	37	17	47699370	47699370	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:47699370C>A	uc010dbk.2	-	4	770	c.138G>T	c.(136-138)GAG>GAT	p.E46D	SPOP_uc002ipb.2_Missense_Mutation_p.E46D|SPOP_uc002ipc.2_Missense_Mutation_p.E46D|SPOP_uc002ipd.2_Missense_Mutation_p.E46D|SPOP_uc002ipe.2_Missense_Mutation_p.E46D|SPOP_uc002ipf.2_Missense_Mutation_p.E46D|SPOP_uc002ipg.2_Missense_Mutation_p.E46D	NM_003563	NP_003554	O43791	SPOP_HUMAN	speckle-type POZ protein	46	MATH.				mRNA processing	nucleus	protein binding			prostate(2)|ovary(2)|lung(2)	6						CACCCATTTCCTCCCGGCAAA	0.353										Prostate(2;0.17)		
SGCA	6442	broad.mit.edu	37	17	48244792	48244792	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:48244792G>A	uc002iqi.2	+	2	137	c.101G>A	c.(100-102)CGT>CAT	p.R34H	SGCA_uc010wmh.1_Translation_Start_Site|SGCA_uc002iqj.2_Missense_Mutation_p.R34H|SGCA_uc010wmi.1_RNA	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	34	Extracellular (Potential).		R -> C (in LGMD2D).|R -> H (in LGMD2D).		muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						CTTGTGGGCCGTGTCTTTGTG	0.642												
CHAD	1101	broad.mit.edu	37	17	48545741	48545741	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:48545741G>A	uc010dbr.2	-	1	487	c.434C>T	c.(433-435)CCG>CTG	p.P145L	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Missense_Mutation_p.P145L|ACSF2_uc010dbt.1_5'UTR	NM_001267	NP_001258	O15335	CHAD_HUMAN	chondroadherin precursor	145	LRR 3.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(2)|central_nervous_system(1)	3	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GTTGACCAGCGGGGAGAGCAA	0.632												
COX11	1353	broad.mit.edu	37	17	53040766	53040766	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:53040766C>T	uc010wng.1	-	3	606	c.549G>A	c.(547-549)GCG>GCA	p.A183A	COX11_uc010wne.1_RNA|COX11_uc010wnf.1_RNA|COX11_uc002iue.2_RNA|COX11_uc010wnh.1_Silent_p.A183A	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN	COX11 homolog, cytochrome c oxidase assembly	183	Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).				respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			ovary(1)	1						CTCTGTAAAACGCCAGTGCAG	0.348												
TEX14	56155	broad.mit.edu	37	17	56693683	56693683	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:56693683G>A	uc010dcz.1	-	7	756	c.638C>T	c.(637-639)GCT>GTT	p.A213V	TEX14_uc002iwr.1_Intron|TEX14_uc002iws.1_Intron|TEX14_uc010dda.1_Intron	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	213						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)					CCAAGGCATAGCCTCAAATTA	0.363												
KCNH6	81033	broad.mit.edu	37	17	61615495	61615495	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:61615495G>A	uc002jay.2	+	7	1651	c.1571G>A	c.(1570-1572)CGC>CAC	p.R524H	KCNH6_uc010wpl.1_Missense_Mutation_p.R401H|KCNH6_uc010wpm.1_Missense_Mutation_p.R524H|KCNH6_uc002jaz.1_Missense_Mutation_p.R471H	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	524	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	GGCACCGCGCGCTACCACACG	0.652												
ICAM2	3384	broad.mit.edu	37	17	62081217	62081217	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:62081217T>C	uc002jdu.3	-	3	668	c.436A>G	c.(436-438)ACC>GCC	p.T146A	C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Missense_Mutation_p.T146A|ICAM2_uc010ded.2_Missense_Mutation_p.T146A|ICAM2_uc002jdx.3_Missense_Mutation_p.T146A|ICAM2_uc002jdv.3_Missense_Mutation_p.T146A	NM_000873	NP_000864	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2 precursor	146	Ig-like C2-type 2.|Extracellular (Potential).				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			ovary(1)	1						AGGAAGAGGGTGAGGCTGTCC	0.607												
AXIN2	8313	broad.mit.edu	37	17	63554068	63554068	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:63554068T>C	uc002jfi.2	-	2	960	c.671A>G	c.(670-672)TAT>TGT	p.Y224C	AXIN2_uc010den.1_Missense_Mutation_p.Y224C|AXIN2_uc002jfh.2_Missense_Mutation_p.Y224C|AXIN2_uc002jfj.1_Missense_Mutation_p.Y224C	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	224					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|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|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						GGTGGGGAGATAGCCACACAC	0.502									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome			
BPTF	2186	broad.mit.edu	37	17	65960510	65960510	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:65960510G>A	uc002jgf.2	+	25	8505	c.8444G>A	c.(8443-8445)CGT>CAT	p.R2815H	BPTF_uc002jge.2_Missense_Mutation_p.R2798H|BPTF_uc002jgg.2_Missense_Mutation_p.R530H|BPTF_uc002jgh.2_Missense_Mutation_p.R332H	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2941					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGGTGCTCCGTTCCTTACAG	0.458												
SSTR2	6752	broad.mit.edu	37	17	71166190	71166190	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:71166190C>T	uc002jje.2	+	2	1092	c.732C>T	c.(730-732)TCC>TCT	p.S244S		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	244	Cytoplasmic (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGTGGGCTCCTCTAAGAGGA	0.483												
CD300C	10871	broad.mit.edu	37	17	72541017	72541017	+	Missense_Mutation	SNP	C	C	G	rs143534670		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:72541017C>G	uc002jky.1	-	2	492	c.131G>C	c.(130-132)CGC>CCC	p.R44P		NM_006678	NP_006669	Q08708	CLM6_HUMAN	CD300C antigen precursor	44	Extracellular (Potential).|Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity				0						CTTCTCATAGCGACACTGCAC	0.532												
EVPL	2125	broad.mit.edu	37	17	74006132	74006132	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:74006132G>A	uc002jqi.2	-	22	3382	c.3154C>T	c.(3154-3156)CGG>TGG	p.R1052W	EVPL_uc010wss.1_Missense_Mutation_p.R1074W|EVPL_uc010wst.1_Missense_Mutation_p.R522W	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1052	Central fibrous rod domain.|Potential.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.R1052W(1)		pancreas(2)|central_nervous_system(1)|skin(1)	4						CCTTCCAGCCGGGCCGAGATG	0.632												
SRP68	6730	broad.mit.edu	37	17	74057235	74057235	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:74057235A>G	uc002jqk.1	-	6	745	c.710T>C	c.(709-711)GTG>GCG	p.V237A	SRP68_uc010wsu.1_Missense_Mutation_p.V136A|SRP68_uc002jql.1_Missense_Mutation_p.V199A	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	237					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						AATCTCTTCCACACGTTGGTT	0.433												
CARD14	79092	broad.mit.edu	37	17	78157906	78157906	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:78157906C>T	uc002jxw.1	+	4	739	c.544C>T	c.(544-546)CGT>TGT	p.R182C	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.R182C|CARD14_uc010wud.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	182	Potential.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCGCATGAAGCGTGAGGTTAG	0.652												
RNF213	57674	broad.mit.edu	37	17	78338261	78338261	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:78338261G>A	uc002jyh.1	+	17	6221	c.5998G>A	c.(5998-6000)GCA>ACA	p.A2000T	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.A382T	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTTCTCCACCGCACTCTTCGT	0.592												
SLC38A10	124565	broad.mit.edu	37	17	79246344	79246344	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:79246344G>A	uc002jzz.1	-	9	1371	c.996C>T	c.(994-996)ACC>ACT	p.T332T	SLC38A10_uc002jzy.1_Silent_p.T250T|SLC38A10_uc002kab.2_Silent_p.T332T	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	332	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCAACCATGGTTCCAAACA	0.567												
FSCN2	25794	broad.mit.edu	37	17	79495836	79495836	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:79495836G>A	uc010wup.1	+	1	420	c.279G>A	c.(277-279)CTG>CTA	p.L93L	FSCN2_uc010wuo.1_Silent_p.L93L	NM_012418	NP_036550	O14926	FSCN2_HUMAN	fascin 2 isoform 1	93					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging				0	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCCTGGTCCTGCCGCAGCCAG	0.711												
LRRC45	201255	broad.mit.edu	37	17	79985932	79985932	+	Silent	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:79985932C>A	uc002kde.2	+	9	1197	c.957C>A	c.(955-957)GCC>GCA	p.A319A		NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	319	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)			AGCAGAAGGCCCAGGACCTGG	0.657												
CCDC57	284001	broad.mit.edu	37	17	80159422	80159422	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:80159422G>A	uc002kdz.1	-	3	754	c.399C>T	c.(397-399)CGC>CGT	p.R133R	CCDC57_uc002kdx.1_Silent_p.R133R	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	133	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			ACCTGTGGACGCGCTCCAGCT	0.682												
SLC16A3	9123	broad.mit.edu	37	17	80196837	80196837	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:80196837G>A	uc002kea.2	+	5	1522	c.1383G>A	c.(1381-1383)CCG>CCA	p.P461P	SLC16A3_uc002kee.2_Intron|SLC16A3_uc002keb.2_Silent_p.P461P|SLC16A3_uc002kec.2_Silent_p.P461P|SLC16A3_uc002ked.2_Silent_p.P461P	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3	461	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TTCACACCCCGGAAACAAGTG	0.587												
TMEM200C	645369	broad.mit.edu	37	18	5891602	5891602	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:5891602C>T	uc002kmx.1	-	1	502	c.461G>A	c.(460-462)CGC>CAC	p.R154H		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	154						integral to membrane					0						AGAGAAGATGCGGAAGAAGAA	0.642												
PTPRM	5797	broad.mit.edu	37	18	8380326	8380326	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:8380326C>T	uc002knn.3	+	27	4283	c.3780C>T	c.(3778-3780)ACC>ACT	p.T1260T	PTPRM_uc010dkv.2_Silent_p.T1273T|PTPRM_uc010wzl.1_Silent_p.T1047T	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1260	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				TTATAGTCACCCAGCATCCTT	0.423												
LAMA3	3909	broad.mit.edu	37	18	21474921	21474921	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:21474921G>A	uc002kuq.2	+	44	5598	c.5512G>A	c.(5512-5514)GAG>AAG	p.E1838K	LAMA3_uc002kur.2_Missense_Mutation_p.E1838K|LAMA3_uc002kus.3_Missense_Mutation_p.E229K|LAMA3_uc002kut.3_Missense_Mutation_p.E229K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1838	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCATGGGCGAGCAGCTCCG	0.622												
MOCOS	55034	broad.mit.edu	37	18	33828912	33828912	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:33828912A>C	uc002kzq.3	+	10	2011	c.1988A>C	c.(1987-1989)GAG>GCG	p.E663A		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	663					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)	GTGCCTCTTGAGGAAAATAGT	0.373												
CELF4	56853	broad.mit.edu	37	18	34853000	34853000	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:34853000C>T	uc002lae.2	-	7	1324	c.928G>A	c.(928-930)GCA>ACA	p.A310T	CELF4_uc010dnd.1_Missense_Mutation_p.A308T|CELF4_uc002lag.2_Missense_Mutation_p.A300T|CELF4_uc002laf.2_Missense_Mutation_p.A305T|CELF4_uc002lai.2_Missense_Mutation_p.A295T|CELF4_uc002lah.1_Missense_Mutation_p.A35T|CELF4_uc002laj.1_Missense_Mutation_p.R145H	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	310	Ala-rich.				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						GTCATAGGTGCGGCCGCCAGG	0.657												
SLC14A1	6563	broad.mit.edu	37	18	43311018	43311018	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:43311018C>T	uc010xcn.1	+	5	509	c.190C>T	c.(190-192)CGG>TGG	p.R64W	SLC14A1_uc010dnk.2_Missense_Mutation_p.R120W|SLC14A1_uc002lbf.3_Missense_Mutation_p.R64W|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_5'UTR|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Missense_Mutation_p.R120W|SLC14A1_uc002lbk.3_Missense_Mutation_p.R64W	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	64	Helical; (Potential).			R -> Q (in Ref. 8; ACV91713).		integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						CTGGATTCTCCGGGGCATATC	0.527												
MBD1	4152	broad.mit.edu	37	18	47802077	47802077	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:47802077G>A	uc010dow.1	-	8	1122	c.685C>T	c.(685-687)CGG>TGG	p.R229W	MBD1_uc002lef.2_Missense_Mutation_p.R11W|MBD1_uc002leg.2_Missense_Mutation_p.R180W|MBD1_uc010xdi.1_Missense_Mutation_p.R255W|MBD1_uc002leh.3_Missense_Mutation_p.R229W|MBD1_uc002len.2_Missense_Mutation_p.R229W|MBD1_uc002lei.3_Missense_Mutation_p.R229W|MBD1_uc002lej.3_Missense_Mutation_p.R229W|MBD1_uc002lek.3_Missense_Mutation_p.R180W|MBD1_uc002lel.3_Missense_Mutation_p.R229W|MBD1_uc002lem.3_Missense_Mutation_p.R229W|MBD1_uc010xdj.1_Missense_Mutation_p.R229W|MBD1_uc010xdk.1_Missense_Mutation_p.R229W|MBD1_uc010dox.1_Missense_Mutation_p.R229W|MBD1_uc002leo.2_Missense_Mutation_p.R229W	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	229	CXXC-type 2.				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						TGACAGCCCCGGCATACTCCA	0.667												
DCC	1630	broad.mit.edu	37	18	51053099	51053099	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:51053099G>T	uc002lfe.1	+	28	4811	c.4224G>T	c.(4222-4224)GAG>GAT	p.E1408D	DCC_uc010dpf.1_Missense_Mutation_p.E1041D	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1408	Cytoplasmic (Potential).				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTCTGAGGAGAGCCACAAAC	0.478												
RTTN	25914	broad.mit.edu	37	18	67795744	67795744	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:67795744A>G	uc002lkp.2	-	24	3061	c.2993T>C	c.(2992-2994)GTG>GCG	p.V998A	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.V86A	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	998							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				GTAAGGACTCACAGCATGGTG	0.378												
TSHZ1	10194	broad.mit.edu	37	18	72999592	72999592	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:72999592A>G	uc002lly.2	+	2	2658	c.2095A>G	c.(2095-2097)AAC>GAC	p.N699D		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	744						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TTCCTTCATCAACCCGCTGAG	0.572												
ODF3L2	284451	broad.mit.edu	37	19	463926	463926	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:463926C>T	uc002lor.2	-	4	1024	c.788G>A	c.(787-789)CGC>CAC	p.R263H	SHC2_uc002loq.3_5'Flank|ODF3L2_uc010drp.2_Missense_Mutation_p.R227H	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	263	DUF1309 3.										0						TTTCGAGTGGCGGATGCCCAT	0.682												
POLRMT	5442	broad.mit.edu	37	19	620437	620437	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:620437G>A	uc002lpf.1	-	11	2747	c.2691C>T	c.(2689-2691)TGC>TGT	p.C897C		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	897	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCATACAGCAGGCCAGCG	0.711												
FGF22	27006	broad.mit.edu	37	19	643536	643536	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:643536C>G	uc010xfq.1	+	3	445	c.445C>G	c.(445-447)CCC>GCC	p.P149A	FGF22_uc010xfr.1_Missense_Mutation_p.A141G	NM_020637	NP_065688	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22 precursor	149					cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity				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)		GAggggggggccccggccagg	0.577												
ELANE	1991	broad.mit.edu	37	19	855757	855757	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:855757G>A	uc002lqb.2	+	4	598	c.560G>A	c.(559-561)TGC>TAC	p.C187Y		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	187	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGCAACGTCTGCACTCTCGTG	0.682									Kostmann_syndrome			
ATP8B3	148229	broad.mit.edu	37	19	1791787	1791787	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:1791787C>A	uc002ltw.2	-	20	2498	c.2264G>T	c.(2263-2265)AGC>ATC	p.S755I	ATP8B3_uc002ltv.2_Missense_Mutation_p.S718I|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	755	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTGATGTTGCTCTTCTTGAG	0.607												
REXO1	57455	broad.mit.edu	37	19	1816782	1816782	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:1816782G>A	uc002lua.3	-	13	3327	c.3232C>T	c.(3232-3234)CGC>TGC	p.R1078C	REXO1_uc010dsq.2_Missense_Mutation_p.R387C|REXO1_uc010xgs.1_Missense_Mutation_p.R64C|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	transcription elongation factor B polypeptide 3	1078	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGTGACGCGCGTCAGCTCC	0.622												
ADAT3	113179	broad.mit.edu	37	19	1912907	1912907	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:1912907C>T	uc002luh.2	+	2	1041	c.813C>T	c.(811-813)GAC>GAT	p.D271D	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.2_Intron|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Intron	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	tRNA-specific adenosine deaminase 3	271					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|skin(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)		TGGACGCAGACGAGGACGGCC	0.711												
LINGO3	645191	broad.mit.edu	37	19	2290756	2290756	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:2290756C>T	uc010dsx.1	-	2	1148	c.1020G>A	c.(1018-1020)TCG>TCA	p.S340S	SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	340	Extracellular (Potential).|LRR 11.					integral to membrane					0						GCGTGTTCACCGAGTGGAAGG	0.647												
ZNF554	115196	broad.mit.edu	37	19	2834223	2834223	+	Silent	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:2834223G>T	uc002lwm.2	+	5	1188	c.990G>T	c.(988-990)GGG>GGT	p.G330G	ZNF554_uc002lwl.2_Silent_p.G279G	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	330	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		ACCAGTGTGGGAAGGTGTTCA	0.502												
ZNF556	80032	broad.mit.edu	37	19	2877513	2877513	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:2877513G>A	uc002lwp.1	+	4	644	c.557G>A	c.(556-558)CGC>CAC	p.R186H	ZNF556_uc002lwq.2_Missense_Mutation_p.R185H	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	186	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTTCAGTCGCCCTTCCTAC	0.453												
TBXA2R	6915	broad.mit.edu	37	19	3600327	3600327	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:3600327G>A	uc002lyg.1	-	2	520	c.306C>T	c.(304-306)TGC>TGT	p.C102C	TBXA2R_uc002lye.1_Silent_p.C102C	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	102	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)	GACAGAGACGGCAGCCAGGGT	0.672												
MATK	4145	broad.mit.edu	37	19	3778397	3778397	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:3778397G>A	uc002lyt.2	-	14	1708	c.1308C>T	c.(1306-1308)GCC>GCT	p.A436A	MATK_uc002lyv.2_Silent_p.A437A|MATK_uc002lyu.2_Silent_p.A395A|MATK_uc010dtq.2_Silent_p.A435A	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	436	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCTCCACGGCCTCCGACA	0.706												
MPND	84954	broad.mit.edu	37	19	4357372	4357372	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:4357372G>A	uc002mae.2	+	9	1186	c.1119G>A	c.(1117-1119)CTG>CTA	p.L373L	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Silent_p.L323L|MPND_uc002maf.2_Silent_p.L373L|MPND_uc002mah.2_Silent_p.L261L|MPND_uc002mai.2_Silent_p.L232L	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	373	MPN.						peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGCGGCTGCAGGGCTCCA	0.692												
PLIN4	729359	broad.mit.edu	37	19	4512043	4512043	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:4512043G>A	uc002mar.1	-	3	1887	c.1887C>T	c.(1885-1887)AAC>AAT	p.N629N	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	629	27 X 33 AA approximate tandem repeat.|17.					lipid particle|plasma membrane					0						CCTTGGCCACGTTCACGGCAC	0.552												
ZNRF4	148066	broad.mit.edu	37	19	5455890	5455890	+	Missense_Mutation	SNP	C	C	T	rs61740899	by1000genomes	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:5455890C>T	uc002mca.3	+	1	465	c.388C>T	c.(388-390)CGG>TGG	p.R130W		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4 precursor	130	Extracellular (Potential).|PA.					integral to membrane	zinc ion binding			large_intestine(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGAGGGCATACGGGGCTACCT	0.687												
LONP1	9361	broad.mit.edu	37	19	5692122	5692122	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:5692122T>C	uc002mcx.2	-	18	2834	c.2801A>G	c.(2800-2802)CAC>CGC	p.H934R	LONP1_uc002mcy.2_Missense_Mutation_p.H870R|LONP1_uc010duh.2_Missense_Mutation_p.H675R|LONP1_uc010dui.2_Missense_Mutation_p.H918R|LONP1_uc002mcz.2_Missense_Mutation_p.H738R	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	934					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						TTCCACGAAGTGCACCTCCAG	0.652												
SLC25A23	79085	broad.mit.edu	37	19	6454640	6454640	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:6454640G>A	uc002mex.1	-	5	714	c.572C>T	c.(571-573)GCC>GTC	p.A191V	SLC25A23_uc002mev.2_RNA|SLC25A23_uc010xjd.1_Missense_Mutation_p.A8V	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	solute carrier family 25, member 23	191	Solcar 1.|Helical; Name=1; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)|pancreas(1)	2						CACTGCGCCGGCCACCAGCTG	0.622												
TUBB4	10382	broad.mit.edu	37	19	6495958	6495958	+	Silent	SNP	G	G	A	rs1053263		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:6495958G>A	uc002mfg.1	-	4	659	c.552C>T	c.(550-552)AAC>AAT	p.N184N	TUBB4_uc002mff.1_Silent_p.N112N|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	184					'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)		ACAGCGTGGCGTTGTAGGGCT	0.567												
SH2D3A	10045	broad.mit.edu	37	19	6760878	6760878	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:6760878G>A	uc002mft.2	-	3	384	c.190C>T	c.(190-192)CGT>TGT	p.R64C	SH2D3A_uc010xjg.1_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	64	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2						AGGGCCACACGGAACACCTCA	0.627												
XAB2	56949	broad.mit.edu	37	19	7690852	7690852	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:7690852C>T	uc002mgx.2	-	6	762	c.736G>A	c.(736-738)GGG>AGG	p.G246R		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	246	HAT 7.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GTGAGGCCCCCGCGGATGATG	0.627								Direct_reversal_of_damage|NER				
CD209	30835	broad.mit.edu	37	19	7810926	7810926	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:7810926C>T	uc002mht.2	-	4	293	c.226G>A	c.(226-228)GCG>ACG	p.A76T	CD209_uc010xju.1_Missense_Mutation_p.A76T|CD209_uc010dvp.2_Missense_Mutation_p.A52T|CD209_uc002mhr.2_Missense_Mutation_p.A52T|CD209_uc002mhs.2_Missense_Mutation_p.A52T|CD209_uc002mhu.2_Missense_Mutation_p.A76T|CD209_uc010dvq.2_Missense_Mutation_p.A76T|CD209_uc002mhq.2_Missense_Mutation_p.A76T|CD209_uc002mhv.2_Missense_Mutation_p.A52T|CD209_uc002mhx.2_Missense_Mutation_p.A32T|CD209_uc002mhw.2_Missense_Mutation_p.A32T|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	76	Extracellular (Probable).				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						TGGTAGATCGCGTCTTGCCTG	0.458												
PRAM1	84106	broad.mit.edu	37	19	8555241	8555241	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:8555241G>A	uc002mkd.2	-	9	1976	c.1956C>T	c.(1954-1956)TAC>TAT	p.Y652Y	PRAM1_uc002mkc.2_Silent_p.Y651Y	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	700							lipid binding|protein binding				0						CGACATCATCGTACACCTCCG	0.662												
MUC16	94025	broad.mit.edu	37	19	9060440	9060440	+	Silent	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:9060440G>T	uc002mkp.2	-	3	27210	c.27006C>A	c.(27004-27006)CCC>CCA	p.P9002P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9004	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						CCCTTGGTGTGGGGGTCAGGG	0.502												
MUC16	94025	broad.mit.edu	37	19	9062779	9062779	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:9062779G>A	uc002mkp.2	-	3	24871	c.24667C>T	c.(24667-24669)CCC>TCC	p.P8223S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8225	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						ACCCAGTTGGGTGTTGTTGAT	0.458												
OLFM2	93145	broad.mit.edu	37	19	9965340	9965340	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:9965340C>T	uc002mmp.2	-	6	915	c.887G>A	c.(886-888)CGC>CAC	p.R296H	OLFM2_uc002mmo.2_Missense_Mutation_p.R218H	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	296	Olfactomedin-like.					extracellular region				large_intestine(1)|skin(1)	2						CAGCACAGAGCGCGAGCGGAA	0.622												
ANGPTL6	83854	broad.mit.edu	37	19	10203374	10203374	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:10203374C>T	uc002mmx.1	-	6	1422	c.1304G>A	c.(1303-1305)GGC>GAC	p.G435D	C19orf66_uc002mmu.3_3'UTR|C19orf66_uc002mmv.3_3'UTR|C19orf66_uc002mmw.3_3'UTR|ANGPTL6_uc002mmy.1_Missense_Mutation_p.G435D	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	435	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding				0			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			GTAGTGGCCGCCGTGGTGCCA	0.617												
S1PR2	9294	broad.mit.edu	37	19	10334939	10334939	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:10334939C>T	uc002mnl.2	-	2	754	c.643G>A	c.(643-645)GTG>ATG	p.V215M		NM_004230	NP_004221	O95136	S1PR2_HUMAN	endothelial differentiation, sphingolipid	215	Cytoplasmic (By similarity).				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|central_nervous_system(1)	2						GAGCGGACCACGCAGTAGATG	0.602												
TYK2	7297	broad.mit.edu	37	19	10489041	10489041	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:10489041G>A	uc002moc.3	-	3	420	c.42C>T	c.(40-42)CCC>CCT	p.P14P	TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Silent_p.P14P	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	14					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)			CATCCCCAACGGGCTTACTGC	0.662												
KEAP1	9817	broad.mit.edu	37	19	10602832	10602832	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:10602832C>T	uc002moq.1	-	3	902	c.746G>A	c.(745-747)TGC>TAC	p.C249Y	KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.C249Y	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	249	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)			CCAGTTGATGCAGGCGTGGAA	0.617												
SMARCA4	6597	broad.mit.edu	37	19	11135028	11135028	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:11135028G>A	uc002mqf.3	+	21	3279	c.2995G>A	c.(2995-2997)GAC>AAC	p.D999N	SMARCA4_uc010dxp.2_Missense_Mutation_p.D999N|SMARCA4_uc010dxo.2_Missense_Mutation_p.D999N|SMARCA4_uc002mqg.1_Missense_Mutation_p.D999N|SMARCA4_uc010dxq.2_Missense_Mutation_p.D999N|SMARCA4_uc010dxr.2_Missense_Mutation_p.D999N|SMARCA4_uc002mqj.3_Missense_Mutation_p.D999N|SMARCA4_uc010dxs.2_Missense_Mutation_p.D999N|SMARCA4_uc010dxt.1_Missense_Mutation_p.D219N|SMARCA4_uc002mqh.3_Missense_Mutation_p.D122N|SMARCA4_uc002mqi.1_Missense_Mutation_p.D202N	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	999					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)				CATCAAGTGCGACATGTCTGC	0.617			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
LPPR2	64748	broad.mit.edu	37	19	11472075	11472075	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:11472075G>A	uc002mre.1	+	6	911	c.574G>A	c.(574-576)GCT>ACT	p.A192T	LPPR2_uc002mrf.1_Missense_Mutation_p.A167T|LPPR2_uc010dxy.1_5'UTR	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	192						integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						GGGTGCCTGCGCTGGCAGTCC	0.711												
LPPR2	64748	broad.mit.edu	37	19	11475043	11475043	+	Silent	SNP	C	C	T	rs143779658		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:11475043C>T	uc002mre.1	+	10	1357	c.1020C>T	c.(1018-1020)GCC>GCT	p.A340A	LPPR2_uc002mrf.1_Missense_Mutation_p.R321C|LPPR2_uc010dxy.1_Missense_Mutation_p.R153C	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	340						integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						CTGCGCCCGCCGTGGCCACCT	0.632												
ZNF490	57474	broad.mit.edu	37	19	12692113	12692113	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:12692113A>G	uc002mtz.2	-	5	905	c.776T>C	c.(775-777)TTC>TCC	p.F259S		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	259	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAGATATCTGAATGCCTTCCC	0.408												
BEST2	54831	broad.mit.edu	37	19	12866521	12866521	+	Silent	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:12866521A>G	uc002mux.2	+	6	807	c.807A>G	c.(805-807)CTA>CTG	p.L269L		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	vitelliform macular dystrophy 2-like 1	269	Extracellular (Potential).				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			ovary(1)|pancreas(1)	2						ACCACGACCTAGACCTGTGTG	0.587												
CACNA1A	773	broad.mit.edu	37	19	13409876	13409876	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:13409876G>A	uc010dze.2	-	19	2810	c.2574C>T	c.(2572-2574)TTC>TTT	p.F858F	CACNA1A_uc010dzc.2_Silent_p.F383F|CACNA1A_uc002mwy.3_Silent_p.F857F|CACNA1A_uc010xne.1_Silent_p.F386F	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	858	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)	GTTTCCTGAGGAAGTCCTCGG	0.726												
ZSWIM4	65249	broad.mit.edu	37	19	13941470	13941470	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:13941470G>A	uc002mxh.1	+	13	2765	c.2576G>A	c.(2575-2577)CGG>CAG	p.R859Q	ZSWIM4_uc010xng.1_Missense_Mutation_p.R782Q	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	859							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TCCCTGGGCCGGCACGAGCTC	0.652												
CC2D1A	54862	broad.mit.edu	37	19	14020696	14020696	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:14020696G>A	uc002mxo.2	+	2	420	c.121G>A	c.(121-123)GAT>AAT	p.D41N	CC2D1A_uc002mxn.2_5'UTR|CC2D1A_uc002mxp.2_Missense_Mutation_p.D41N	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	41					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGGGGCTAACGATGAAGAACT	0.577												
CYP4F22	126410	broad.mit.edu	37	19	15648459	15648459	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:15648459G>A	uc002nbh.3	+	6	702	c.535G>A	c.(535-537)GCT>ACT	p.A179T		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	179						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2						CAACCAGAGCGCTGACATTAT	0.547												
CHERP	10523	broad.mit.edu	37	19	16630060	16630060	+	Silent	SNP	G	G	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:16630060G>C	uc002nei.1	-	17	2735	c.2661C>G	c.(2659-2661)GGC>GGG	p.G887G	MED26_uc002nee.2_RNA|C19orf44_uc002neh.1_Intron|C19orf44_uc010eai.1_Intron|CHERP_uc010xpg.1_Silent_p.G426G	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	887	G-patch.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						CCAGAGCCACGCCCACGCCTT	0.622												
ZNF492	57615	broad.mit.edu	37	19	22846755	22846755	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:22846755A>G	uc002nqw.3	+	4	528	c.284A>G	c.(283-285)AAA>AGA	p.K95R		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AAGGTGCACAAAGAATGTTAC	0.299												
ZNF507	22847	broad.mit.edu	37	19	32845353	32845353	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:32845353G>A	uc002nte.2	+	3	1889	c.1617G>A	c.(1615-1617)GCG>GCA	p.A539A	ZNF507_uc002ntc.2_Silent_p.A539A|ZNF507_uc010xrn.1_Silent_p.A539A|ZNF507_uc002ntd.2_Silent_p.A539A	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(110;0.162)					CATTGGCAGCGTACTCAAAAA	0.448												
ANKRD27	84079	broad.mit.edu	37	19	33119673	33119673	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:33119673C>T	uc002ntn.1	-	14	1448	c.1292G>A	c.(1291-1293)TGT>TAT	p.C431Y		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	431					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)					GAGAGGGTGACACATCTTTTG	0.393												
SLC7A10	56301	broad.mit.edu	37	19	33703303	33703303	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:33703303G>A	uc002num.2	-	5	830	c.683C>T	c.(682-684)ACG>ATG	p.T228M	SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.1_Missense_Mutation_p.T201M	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	solute carrier family 7, member 10	228					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(110;0.137)					CACGGAGGGCGTCATCCAGAA	0.627												
ZNF599	148103	broad.mit.edu	37	19	35250403	35250403	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:35250403T>C	uc010edn.1	-	4	1691	c.1303A>G	c.(1303-1305)AGC>GGC	p.S435G	ZNF599_uc010edm.1_Missense_Mutation_p.S398G	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	435	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGGAAGAGCTGTCACAAAAG	0.448												
FFAR1	2864	broad.mit.edu	37	19	35842792	35842792	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:35842792G>A	uc002nzc.2	+	1	348	c.338G>A	c.(337-339)GGC>GAC	p.G113D		NM_005303	NP_005294	O14842	FFAR1_HUMAN	free fatty acid receptor 1	113	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	TTCCCCTTGGGCTACCAAGCC	0.677												
MLL4	9757	broad.mit.edu	37	19	36214083	36214083	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:36214083G>A	uc010eei.2	+	6	2909	c.2909G>A	c.(2908-2910)CGG>CAG	p.R970Q		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	970	CXXC-type.				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)			GGACACTGTCGGGGCTGCCTA	0.612												
LRFN3	79414	broad.mit.edu	37	19	36430505	36430505	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:36430505C>T	uc002oco.2	+	2	630	c.178C>T	c.(178-180)CGG>TGG	p.R60W		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	60	LRR 1.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCTGGACCGCCGGGCAGCCGA	0.701												
CLIP3	25999	broad.mit.edu	37	19	36517912	36517912	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:36517912G>A	uc010eeq.1	-	3	624	c.342C>T	c.(340-342)GAC>GAT	p.D114D	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Silent_p.D114D	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	114					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGTCAGCCCGTCACGATCGT	0.632												
ZNF420	147923	broad.mit.edu	37	19	37619816	37619816	+	Silent	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:37619816A>G	uc002ofl.2	+	5	2138	c.1923A>G	c.(1921-1923)AAA>AAG	p.K641K		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGGTGAGAAACCATATCAAT	0.403												
ZNF540	163255	broad.mit.edu	37	19	38103001	38103001	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:38103001A>G	uc002ogq.2	+	5	1152	c.820A>G	c.(820-822)AAG>GAG	p.K274E	ZNF540_uc002ogu.2_Missense_Mutation_p.K274E|ZNF540_uc010efq.2_Missense_Mutation_p.K242E	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	274	C2H2-type 4.				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)			CTATATGTGTAAGAAATGTGA	0.318												
RYR1	6261	broad.mit.edu	37	19	38958451	38958451	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:38958451G>A	uc002oit.2	+	25	3510	c.3380G>A	c.(3379-3381)CGC>CAC	p.R1127H	RYR1_uc002oiu.2_Missense_Mutation_p.R1127H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1127	6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.				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)	AATGGGCACCGCGTGGGTACC	0.637												
RYR1	6261	broad.mit.edu	37	19	38968433	38968433	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:38968433C>T	uc002oit.2	+	30	4507	c.4377C>T	c.(4375-4377)CAC>CAT	p.H1459H	RYR1_uc002oiu.2_Silent_p.H1459H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1459	Cytoplasmic.|B30.2/SPRY 3.|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)	ACCATCAGCACGACATGAGCT	0.627												
FCGBP	8857	broad.mit.edu	37	19	40368363	40368363	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:40368363C>T	uc002omp.3	-	28	12993	c.12985G>A	c.(12985-12987)GTG>ATG	p.V4329M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4329						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGCGGCCACGTAGGAAGCC	0.637												
PSMC4	5704	broad.mit.edu	37	19	40485724	40485724	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:40485724C>T	uc002omq.2	+	7	711	c.674C>T	c.(673-675)GCT>GTT	p.A225V	PSMC4_uc002omr.2_Missense_Mutation_p.A194V	NM_006503	NP_006494	P43686	PRS6B_HUMAN	proteasome 26S ATPase subunit 4 isoform 1	225					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)					CTGTCATCAGCTGCATTCATC	0.542												
C19orf47	126526	broad.mit.edu	37	19	40832311	40832311	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:40832311G>A	uc002oni.3	-	7	634	c.633C>T	c.(631-633)TAC>TAT	p.Y211Y	C19orf47_uc002ong.2_Silent_p.Y70Y|C19orf47_uc002onh.2_Silent_p.Y144Y	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	hypothetical protein LOC126526	211										ovary(1)|skin(1)	2			Lung(22;0.000636)			TGTTGATGACGTACTTCCCCT	0.647												
AXL	558	broad.mit.edu	37	19	41759537	41759537	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:41759537G>A	uc010ehj.2	+	17	2150	c.1960G>A	c.(1960-1962)GCA>ACA	p.A654T	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.A645T	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	654	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						GAAGTTCATGGCAGACATCGC	0.577												
BCKDHA	593	broad.mit.edu	37	19	41884362	41884362	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:41884362C>A	uc002oqm.3	+	2	499	c.148C>A	c.(148-150)CTG>ATG	p.L50M	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Missense_Mutation_p.L50M|TMEM91_uc010ehq.2_Missense_Mutation_p.L50M|TMEM91_uc002oql.2_Missense_Mutation_p.L50M|TMEM91_uc010ehr.2_Missense_Mutation_p.L50M|TMEM91_uc010ehs.2_Missense_Mutation_p.L50M|TMEM91_uc010eht.2_Missense_Mutation_p.L50M|TMEM91_uc002oqk.3_Missense_Mutation_p.L50M|TMEM91_uc002oqn.2_Missense_Mutation_p.L50M	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	Error:Variant_position_missing_in_P12694_after_alignment					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						TTTGCAGTTCCTGTCACCGCC	0.617												
ZNF225	7768	broad.mit.edu	37	19	44636030	44636030	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:44636030G>A	uc002oyj.1	+	5	1506	c.1263G>A	c.(1261-1263)GCG>GCA	p.A421A	ZNF225_uc010eje.1_Silent_p.A338A|ZNF225_uc010ejf.1_Silent_p.A421A	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	421	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				ACCAGAGAGCGCACAGTGGAG	0.453												
ZNF234	10780	broad.mit.edu	37	19	44661759	44661759	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:44661759T>C	uc002oym.2	+	6	1897	c.1590T>C	c.(1588-1590)CAT>CAC	p.H530H	ZNF234_uc002oyl.3_Silent_p.H530H	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	530	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)				TTCTAACCCATCAGAGAGTTC	0.458												
CLPTM1	1209	broad.mit.edu	37	19	45493705	45493705	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:45493705C>T	uc002pai.2	+	10	1200	c.1185C>T	c.(1183-1185)TCC>TCT	p.S395S	CLPTM1_uc010xxf.1_Silent_p.S293S|CLPTM1_uc010xxg.1_Silent_p.S381S	NM_001294	NP_001285	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane	395	Helical; (Potential).				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CCGTGCGCTCCGTCTTCTTCG	0.602												
ERCC2	2068	broad.mit.edu	37	19	45864875	45864875	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:45864875G>T	uc002pbj.2	-	12	1191	c.1144C>A	c.(1144-1146)CTG>ATG	p.L382M	ERCC2_uc002pbh.2_5'Flank|ERCC2_uc002pbi.2_Missense_Mutation_p.L75M|ERCC2_uc010ejz.2_Missense_Mutation_p.L304M|ERCC2_uc002pbk.2_Missense_Mutation_p.L358M|ERCC2_uc002pbl.3_Missense_Mutation_p.L358M	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	382					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|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|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GTATGCAGCAGGGACCGGAGG	0.617			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
CCDC8	83987	broad.mit.edu	37	19	46915950	46915950	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:46915950G>A	uc002pep.2	-	1	970	c.118C>T	c.(118-120)CGG>TGG	p.R40W		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	40						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		tgggtcagccgctcccgaaat	0.1												
PNMAL2	57469	broad.mit.edu	37	19	46997443	46997443	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:46997443G>A	uc002pes.2	-	1	1727	c.1280C>T	c.(1279-1281)GCG>GTG	p.A427V	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	427										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGCCTTCTTCGCCTGGGGAGG	0.701												
CRX	1406	broad.mit.edu	37	19	48342617	48342617	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:48342617G>A	uc002phq.3	+	4	497	c.293G>A	c.(292-294)CGA>CAA	p.R98Q		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	98	Homeobox.				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		AGgcagcagcgacagcagcag	0.537												
NUCB1	4924	broad.mit.edu	37	19	49414506	49414506	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:49414506G>A	uc002plb.3	+	5	549	c.477G>A	c.(475-477)CAG>CAA	p.Q159Q	NUCB1_uc002pla.2_Silent_p.Q159Q|NUCB1_uc002plc.2_Silent_p.Q159Q	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	159	Potential.					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TGCTGATCCAGACGGTAATGG	0.562												
RUVBL2	10856	broad.mit.edu	37	19	49514566	49514566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:49514566C>T	uc002plr.1	+	11	1013	c.1000C>T	c.(1000-1002)CGA>TGA	p.R334*	RUVBL2_uc002plq.1_Nonsense_Mutation_p.R289*|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Nonsense_Mutation_p.R289*|RUVBL2_uc010yac.1_Nonsense_Mutation_p.R289*	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	334					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TGGCATCACGCGGTGAGCCGG	0.622												
TRPM4	54795	broad.mit.edu	37	19	49703691	49703691	+	Splice_Site	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:49703691T>C	uc002pmw.2	+	18	2850	c.2778_splice	c.e18+2	p.M926_splice	TRPM4_uc010emu.2_Splice_Site_p.M781_splice|TRPM4_uc010yak.1_Splice_Site_p.M390_splice|TRPM4_uc002pmx.2_Splice_Site_p.M752_splice|TRPM4_uc010emv.2_Splice_Site_p.M811_splice|TRPM4_uc010yal.1_Splice_Site_p.M572_splice|TRPM4_uc002pmy.2_Splice_Site_p.M268_splice	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,						dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AGCAAGATGGTGAGGCAGGGG	0.607												
SLC17A7	57030	broad.mit.edu	37	19	49933839	49933839	+	Silent	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:49933839G>T	uc002pnp.2	-	12	1792	c.1620C>A	c.(1618-1620)TCC>TCA	p.S540S	SLC17A7_uc002pno.2_Silent_p.S202S	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	540	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)		TGGCCCCATAGGAGGGCGGGG	0.652												
IRF3	3661	broad.mit.edu	37	19	50165518	50165518	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:50165518C>T	uc010end.1	-	6	1051	c.669G>A	c.(667-669)CCG>CCA	p.P223P	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Intron|IRF3_uc002pox.1_Silent_p.P223P|IRF3_uc002poy.1_Silent_p.P223P|IRF3_uc002pou.2_Silent_p.P223P|IRF3_uc002pov.2_Silent_p.P77P|IRF3_uc002pow.2_Silent_p.P223P|IRF3_uc002poz.1_Silent_p.P223P|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	223	Involved in HERC5 binding.				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)		GCAGGCCCTCCGGGCAGGAGA	0.657												
CPT1C	126129	broad.mit.edu	37	19	50213644	50213644	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:50213644T>A	uc002ppj.2	+	14	1839	c.1634T>A	c.(1633-1635)GTC>GAC	p.V545D	CPT1C_uc002ppl.3_Missense_Mutation_p.V511D|CPT1C_uc002ppi.2_Missense_Mutation_p.V462D|CPT1C_uc002ppk.2_Missense_Mutation_p.V534D|CPT1C_uc010eng.2_Missense_Mutation_p.V545D|CPT1C_uc010enh.2_Missense_Mutation_p.V545D|CPT1C_uc010ybc.1_Missense_Mutation_p.V416D|CPT1C_uc010eni.1_Missense_Mutation_p.V202D	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	545	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GACTGCCATGTCGTTCCATTC	0.552												
FUZ	80199	broad.mit.edu	37	19	50311684	50311684	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:50311684C>T	uc002ppq.1	-	10	1125	c.1020G>A	c.(1018-1020)ACG>ACA	p.T340T	FUZ_uc002ppr.1_Silent_p.T240T|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Silent_p.T304T|FUZ_uc002ppv.1_Silent_p.T290T	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	340	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GTGGGAAGTGCGTGGAGGTGA	0.632												
ZNF473	25888	broad.mit.edu	37	19	50548645	50548645	+	Silent	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:50548645A>G	uc002prn.2	+	5	1182	c.945A>G	c.(943-945)ACA>ACG	p.T315T	ZNF473_uc002prm.2_Silent_p.T315T|ZNF473_uc010ybo.1_Silent_p.T303T	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	315	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AAACTCACACAGATAGTAAGT	0.473												
LRRC4B	94030	broad.mit.edu	37	19	51022077	51022077	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:51022077G>A	uc002pss.2	-	3	1030	c.893C>T	c.(892-894)ACG>ATG	p.T298M		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	298	LRR 9.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGCAGGGGCGTGAAGAGGTC	0.637												
ZNF175	7728	broad.mit.edu	37	19	52091589	52091589	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:52091589A>G	uc002pxb.2	+	5	2383	c.2005A>G	c.(2005-2007)AGA>GGA	p.R669G	uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	zinc finger protein 175	669					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CACGGGAGAAAGACCTTATGT	0.423												
ZNF761	388561	broad.mit.edu	37	19	53958336	53958336	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:53958336A>G	uc010eqp.2	+	7	1033	c.575A>G	c.(574-576)CAT>CGT	p.H192R	ZNF761_uc010ydy.1_Missense_Mutation_p.H138R|ZNF761_uc002qbt.1_Missense_Mutation_p.H138R	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		TCTAATAACCATGGGAATAAT	0.358												
LILRA2	11027	broad.mit.edu	37	19	55086421	55086421	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:55086421G>A	uc002qgg.3	+	4	665	c.576G>A	c.(574-576)TCG>TCA	p.S192S	LILRA2_uc010ern.2_Silent_p.S192S|LILRA2_uc002qgf.2_Silent_p.S192S|LILRA2_uc010yfe.1_Silent_p.S192S|LILRA2_uc010yff.1_Silent_p.S180S|LILRA2_uc010ero.2_Silent_p.S180S|LILRA2_uc010yfg.1_Silent_p.S192S	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	192	Extracellular (Potential).|Ig-like C2-type 2.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		GCAGGTGGTCGTACAGGTGCT	0.572												
ZNF784	147808	broad.mit.edu	37	19	56133442	56133442	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:56133442C>T	uc002qll.1	-	2	661	c.647G>A	c.(646-648)CGC>CAC	p.R216H	ZNF784_uc010etb.1_RNA	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	216	C2H2-type 4.				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;0.105)		AGTGTGCACGCGCTCGTGGTC	0.557												
ZNF784	147808	broad.mit.edu	37	19	56133473	56133473	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:56133473G>A	uc002qll.1	-	2	630	c.616C>T	c.(616-618)CGC>TGC	p.R206C	ZNF784_uc010etb.1_RNA	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	206	C2H2-type 4.				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;0.105)		GAGGAGCGGCGGAAGGGCTTG	0.463												
ZNF583	147949	broad.mit.edu	37	19	56935120	56935120	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:56935120G>A	uc010ygl.1	+	5	1258	c.1093G>A	c.(1093-1095)GGA>AGA	p.G365R	ZNF583_uc002qnc.2_Missense_Mutation_p.G365R|ZNF583_uc010ygm.1_Missense_Mutation_p.G365R	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN	zinc finger protein 583	365	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TAGCCATCGTGGATACCTAAT	0.428												
ZNF417	147687	broad.mit.edu	37	19	58420289	58420289	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:58420289C>T	uc002qqq.2	-	3	1556	c.1357G>A	c.(1357-1359)GTT>ATT	p.V453I	ZNF417_uc010yhm.1_Missense_Mutation_p.V410I|ZNF417_uc002qqr.2_Missense_Mutation_p.V452I	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	453	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CTCTCATGAACGAGAAGATGA	0.423												
ZSCAN18	65982	broad.mit.edu	37	19	58596463	58596463	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:58596463G>A	uc002qri.2	-	7	1431	c.1122C>T	c.(1120-1122)CCC>CCT	p.P374P	ZSCAN18_uc002qrj.3_Silent_p.P373P|ZSCAN18_uc010yhs.1_Silent_p.P238P|ZSCAN18_uc002qrh.2_Silent_p.P374P|ZSCAN18_uc010yht.1_Silent_p.P430P|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	374					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCCATCCTCGGGGTGCGGCC	0.716												
SLC27A5	10998	broad.mit.edu	37	19	59010237	59010237	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:59010237C>T	uc002qtc.2	-	9	1921	c.1811G>A	c.(1810-1812)GGC>GAC	p.G604D	SLC27A5_uc002qtb.2_RNA	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	604	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GAAAGTCTGGCCGGGGGCTAG	0.622												
ZBTB45	84878	broad.mit.edu	37	19	59027836	59027836	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:59027836G>A	uc002qtd.2	-	2	1497	c.1205C>T	c.(1204-1206)ACG>ATG	p.T402M	ZBTB45_uc002qte.2_Missense_Mutation_p.T402M|ZBTB45_uc002qtf.2_Missense_Mutation_p.T402M	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		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;0.0165)|Lung(386;0.18)		GCACTCATACGTAGGTGGCTC	0.657												
MYT1L	23040	broad.mit.edu	37	2	1893171	1893171	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:1893171G>A	uc002qxe.2	-	16	3189	c.2362C>T	c.(2362-2364)CCC>TCC	p.P788S	MYT1L_uc002qxd.2_Missense_Mutation_p.P786S|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	788					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTCAGGATGGGGCAGCAGCTG	0.617												
MYT1L	23040	broad.mit.edu	37	2	1914026	1914026	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:1914026C>T	uc002qxe.2	-	13	2630	c.1803G>A	c.(1801-1803)TCG>TCA	p.S601S	MYT1L_uc002qxd.2_Silent_p.S599S|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	601					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCACGCGGTCCGAGGCCTGGC	0.632												
GDF7	151449	broad.mit.edu	37	2	20870311	20870311	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:20870311G>A	uc002rdz.1	+	2	1055	c.479G>A	c.(478-480)CGC>CAC	p.R160H		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	160					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				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGAGCTGCGCGTGCTGCGC	0.701												
DTNB	1838	broad.mit.edu	37	2	25754444	25754444	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:25754444C>T	uc002rgh.2	-	9	1149	c.899G>A	c.(898-900)AGC>AAC	p.S300N	DTNB_uc010yko.1_Missense_Mutation_p.S243N|DTNB_uc010ykp.1_Missense_Mutation_p.S96N|DTNB_uc002rgo.2_Missense_Mutation_p.S121N|DTNB_uc002rgi.2_Missense_Mutation_p.S300N|DTNB_uc002rgj.2_Missense_Mutation_p.S300N|DTNB_uc002rgk.2_Missense_Mutation_p.S300N|DTNB_uc002rgl.2_Missense_Mutation_p.S300N|DTNB_uc002rgq.2_Missense_Mutation_p.S300N|DTNB_uc002rgm.2_Missense_Mutation_p.S300N|DTNB_uc002rgn.2_Missense_Mutation_p.S96N|DTNB_uc002rgr.1_Missense_Mutation_p.S289N|DTNB_uc010ykq.1_Missense_Mutation_p.S153N	NM_021907	NP_068707	O60941	DTNB_HUMAN	dystrobrevin, beta isoform 1	300						cytoplasm	calcium ion binding|zinc ion binding			large_intestine(2)|ovary(2)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTGCATGGCTCAGCTTCTT	0.398												
SLC5A6	8884	broad.mit.edu	37	2	27424577	27424577	+	Missense_Mutation	SNP	C	C	T	rs142905141		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:27424577C>T	uc002rjd.2	-	14	1892	c.1501G>A	c.(1501-1503)GTT>ATT	p.V501I	SLC5A6_uc010eyv.1_Missense_Mutation_p.V501I	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	501					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	ACAGTGGCAACGGTTAGATTG	0.542												
ZNF513	130557	broad.mit.edu	37	2	27601661	27601661	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:27601661C>T	uc002rkk.2	-	3	672	c.472G>A	c.(472-474)GTG>ATG	p.V158M	ZNF513_uc002rkj.2_Missense_Mutation_p.V96M	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	158	C2H2-type 1.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGTGGGACACGAAGGTGCAG	0.692												
NRBP1	29959	broad.mit.edu	37	2	27664199	27664199	+	Splice_Site	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:27664199T>C	uc002rko.2	+	17	2279	c.1447_splice	c.e17+2	p.N483_splice	NRBP1_uc002rkq.2_Splice_Site_p.N482_splice|NRBP1_uc002rkp.2_Splice_Site_p.N483_splice|NRBP1_uc002rkr.2_Splice_Site_p.N274_splice|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein						ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)					TGATGCCAAGTGAGTCTCTCC	0.488												
C2orf16	84226	broad.mit.edu	37	2	27804427	27804427	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:27804427G>A	uc002rkz.3	+	1	5039	c.4988G>A	c.(4987-4989)CGC>CAC	p.R1663H	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1663	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.|6.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					AGAAGCCATCGCAGTTCCTCT	0.572												
CAPN13	92291	broad.mit.edu	37	2	30966439	30966439	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:30966439G>A	uc002rnn.2	-	12	1431	c.1255C>T	c.(1255-1257)CGG>TGG	p.R419W	CAPN13_uc002rnm.2_RNA|CAPN13_uc002rno.2_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	419					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AATTTCTCCCGGAACCGCTGG	0.473												
TTC7A	57217	broad.mit.edu	37	2	47288044	47288044	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:47288044G>T	uc002rvo.2	+	19	2657	c.2289G>T	c.(2287-2289)GAG>GAT	p.E763D	TTC7A_uc002rvm.2_Missense_Mutation_p.E729D|TTC7A_uc010fbb.2_Missense_Mutation_p.E787D|TTC7A_uc010fbc.2_Missense_Mutation_p.E409D|TTC7A_uc002rvp.2_Missense_Mutation_p.E644D|TTC7A_uc002rvq.2_Missense_Mutation_p.E503D|TTC7A_uc002rvr.2_Missense_Mutation_p.E212D	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	763	TPR 7.						binding			breast(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACCTGGAGGAGGCCAAGCAGC	0.637												
SLC1A4	6509	broad.mit.edu	37	2	65248137	65248137	+	Missense_Mutation	SNP	G	G	A	rs113579377	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:65248137G>A	uc010yqa.1	+	8	1778	c.1456G>A	c.(1456-1458)GAG>AAG	p.E486K	SLC1A4_uc010ypy.1_Missense_Mutation_p.E266K|SLC1A4_uc010ypz.1_Missense_Mutation_p.E188K|SLC1A4_uc010fcv.2_Missense_Mutation_p.R485Q|SLC1A4_uc002sdh.2_Missense_Mutation_p.E266K	NM_003038	NP_003029	P43007	SATT_HUMAN	solute carrier family 1, member 4 isoform 1	486					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(1)	1					L-Alanine(DB00160)	AAAGAAAGGCGAGCAGGAACT	0.597												
MXD1	4084	broad.mit.edu	37	2	70162550	70162550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:70162550C>T	uc002sfy.2	+	4	531	c.271C>T	c.(271-273)CGA>TGA	p.R91*	MXD1_uc010yqp.1_Nonsense_Mutation_p.R91*|MXD1_uc010yqq.1_Nonsense_Mutation_p.R28*|MXD1_uc010yqr.1_RNA|MXD1_uc010yqs.1_Nonsense_Mutation_p.R81*	NM_002357	NP_002348	Q05195	MAD1_HUMAN	MAX dimerization protein 1	91	Helix-loop-helix motif.				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						CGAATCAAGTCGACACACTAC	0.448												
NAGK	55577	broad.mit.edu	37	2	71297913	71297913	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:71297913G>A	uc002shp.3	+	3	563	c.157G>A	c.(157-159)GTG>ATG	p.V53M	NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Translation_Start_Site|NAGK_uc002shr.2_Missense_Mutation_p.V2M	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN	N-Acetylglucosamine kinase	53					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding				0					N-Acetyl-D-glucosamine(DB00141)	CAATGAGATGGTGAACAGGGC	0.552											OREG0014689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FBXO41	150726	broad.mit.edu	37	2	73491645	73491645	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:73491645G>A	uc002sjb.1	-	6	1750	c.1750C>T	c.(1750-1752)CGC>TGC	p.R584C		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	523	F-box.					intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						CCCTCGGGGCGGGCTGCAGAA	0.632												
RTKN	6242	broad.mit.edu	37	2	74657143	74657143	+	Silent	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:74657143A>G	uc002sle.2	-	6	684	c.567T>C	c.(565-567)TTT>TTC	p.F189F	RTKN_uc002slc.2_Silent_p.F176F|RTKN_uc002sld.2_Silent_p.F139F	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN	rhotekin isoform a	189					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			skin(1)	1						ACCGCAGTTCAAAGTCTGGCC	0.632												
DQX1	165545	broad.mit.edu	37	2	74750531	74750531	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:74750531G>A	uc010yrw.1	-	5	1115	c.950C>T	c.(949-951)GCC>GTC	p.A317V	DQX1_uc002smc.2_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	317	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						AACCTTTCGGGCATCCATGTC	0.562												
TCF7L1	83439	broad.mit.edu	37	2	85536191	85536191	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:85536191A>G	uc002soy.2	+	12	1447	c.1373A>G	c.(1372-1374)TAC>TGC	p.Y458C		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	HMG-box transcription factor TCF-3	458					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)|central_nervous_system(1)	3						TGTGTTCAGTACCTGCCCCCC	0.612												
CAPG	822	broad.mit.edu	37	2	85628352	85628352	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:85628352G>A	uc002spl.1	-	5	702	c.452C>T	c.(451-453)ACC>ATC	p.T151I	CAPG_uc002spm.1_Missense_Mutation_p.T151I|CAPG_uc010ysq.1_Missense_Mutation_p.T151I|CAPG_uc010fgi.1_Missense_Mutation_p.T151I|CAPG_uc010fgj.1_Missense_Mutation_p.T45I	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	151	Gelsolin-like 2.				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						TGCCCGCTCGGTGGCACGGAT	0.582												
POLR1A	25885	broad.mit.edu	37	2	86258545	86258545	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:86258545C>T	uc002sqs.2	-	30	4865	c.4486G>A	c.(4486-4488)GAG>AAG	p.E1496K	POLR1A_uc010ytb.1_Missense_Mutation_p.E862K	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1496					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TCCATGGCCTCGGGCCCCTGG	0.652												
FAHD2B	151313	broad.mit.edu	37	2	97757268	97757268	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:97757268T>C	uc002sxm.2	-	2	327	c.176A>G	c.(175-177)GAC>GGC	p.D59G		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	59							hydrolase activity|metal ion binding				0						GAGTGTGGGGTCAAAGGCATT	0.582												
PDCL3	79031	broad.mit.edu	37	2	101192867	101192867	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:101192867A>G	uc002tao.2	+	6	741	c.629A>G	c.(628-630)GAA>GGA	p.E210G		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	210					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding				0						GACCTGGAGGAAAACCCTAAG	0.493												
IL1B	3553	broad.mit.edu	37	2	113587977	113587977	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:113587977C>A	uc002tii.1	-	7	858	c.771G>T	c.(769-771)CAG>CAT	p.Q257H	IL1B_uc002tih.1_Missense_Mutation_p.Q226H	NM_000576	NP_000567	P01584	IL1B_HUMAN	interleukin 1, beta proprotein	257					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			lung(3)|breast(1)	4					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CAGTTATATCCTGGCCGCCTT	0.512												
GPR17	2840	broad.mit.edu	37	2	128409295	128409295	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:128409295A>G	uc010yzn.1	+	4	1681	c.1070A>G	c.(1069-1071)AAC>AGC	p.N357S	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.N357S|GPR17_uc010yzo.1_Missense_Mutation_p.N329S|GPR17_uc002tpd.2_Missense_Mutation_p.N329S	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	357	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)		GGGAAAACCAACGAGAGCTCG	0.602												
SAP130	79595	broad.mit.edu	37	2	128774078	128774078	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:128774078G>A	uc002tpp.2	-	4	602	c.470C>T	c.(469-471)GCT>GTT	p.A157V	SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.A157V|SAP130_uc002tpq.1_Missense_Mutation_p.A131V	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	157	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGAAGGTGGAGCAGGAGCAAT	0.542												
ZEB2	9839	broad.mit.edu	37	2	145157561	145157561	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:145157561T>C	uc002tvu.2	-	8	1673	c.1193A>G	c.(1192-1194)AAT>AGT	p.N398S	ZEB2_uc002tvv.2_Missense_Mutation_p.N392S|ZEB2_uc010zbm.1_Missense_Mutation_p.N369S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.N427S	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	398						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTATAGTCATTGAAGTCTAG	0.418												
RIF1	55183	broad.mit.edu	37	2	152317719	152317719	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:152317719A>G	uc002txm.2	+	27	3273	c.3143A>G	c.(3142-3144)GAC>GGC	p.D1048G	RIF1_uc002txl.2_Missense_Mutation_p.D1048G|RIF1_uc002txn.2_Missense_Mutation_p.D1048G|RIF1_uc002txo.2_Missense_Mutation_p.D1048G|RIF1_uc002txp.2_5'Flank	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1048					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGTCTACTGACTTTGTGTTT	0.328												
NEB	4703	broad.mit.edu	37	2	152539239	152539239	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:152539239G>A	uc010fnx.2	-	29	3071	c.2880C>T	c.(2878-2880)GGC>GGT	p.G960G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	960	Nebulin 23.				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)		AAGGCACCCAGCCACAACCTT	0.443												
KCNJ3	3760	broad.mit.edu	37	2	155555858	155555858	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:155555858G>A	uc002tyv.1	+	1	766	c.571G>A	c.(571-573)GCC>ACC	p.A191T	KCNJ3_uc010zce.1_Missense_Mutation_p.A191T	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	191	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	CAAGAAGCGCGCCGAGACCCT	0.587												
UPP2	151531	broad.mit.edu	37	2	158971750	158971750	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:158971750C>T	uc002tzp.2	+	3	512	c.318C>T	c.(316-318)ACC>ACT	p.T106T	UPP2_uc002tzo.2_Silent_p.T163T	NM_173355	NP_775491	O95045	UPP2_HUMAN	uridine phosphorylase 2 isoform a	106					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity				0						TGTACAAAACCGGGCCTGTGC	0.443												
PHOSPHO2	493911	broad.mit.edu	37	2	170558162	170558162	+	Silent	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:170558162A>G	uc002ufg.2	+	4	1069	c.681A>G	c.(679-681)TCA>TCG	p.S227S	KLHL23_uc002ufh.1_Intron	NM_001008489	NP_001008489	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	227							metal ion binding|pyridoxal phosphatase activity			skin(1)	1						TTTGGTCCTCAGGTGTTGATA	0.279												
HOXD10	3236	broad.mit.edu	37	2	176983772	176983772	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:176983772T>C	uc002ukj.2	+	2	906	c.836T>C	c.(835-837)CTG>CCG	p.L279P		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	279	Homeobox.					nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CACCAAACGCTGGAATTAGAA	0.463												
TTN	7273	broad.mit.edu	37	2	179395875	179395875	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:179395875G>A	uc010zfg.1	-	307	97987	c.97763C>T	c.(97762-97764)CCG>CTG	p.P32588L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P26283L|TTN_uc010zfi.1_Missense_Mutation_p.P26216L|TTN_uc010zfj.1_Missense_Mutation_p.P26091L|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33515							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)			AGTTGGTACCGGCTCACCATC	0.502												
TTN	7273	broad.mit.edu	37	2	179578856	179578856	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:179578856C>T	uc010zfg.1	-	89	23021	c.22797G>A	c.(22795-22797)ACG>ACA	p.T7599T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T4260T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8526							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)			AGGTGTCTCCCGTGGTAACTT	0.378												
CCDC141	285025	broad.mit.edu	37	2	179736173	179736173	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:179736173T>A	uc002unf.1	-	4	518	c.461A>T	c.(460-462)GAC>GTC	p.D154V		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	154							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGGCTTCATGTCATTCCATTT	0.393												
COL5A2	1290	broad.mit.edu	37	2	189904254	189904254	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:189904254C>T	uc002uqk.2	-	51	3944	c.3669G>A	c.(3667-3669)CCG>CCA	p.P1223P	COL5A2_uc010frx.2_Silent_p.P799P	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1223					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)			CAGGGGGACCCGGAGGGCCAG	0.493												
TMEFF2	23671	broad.mit.edu	37	2	192922438	192922438	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:192922438C>T	uc002utc.2	-	5	897	c.503G>A	c.(502-504)GGT>GAT	p.G168D		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	168	Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACATTCTGCACCAAACTGGCA	0.373												
TMEFF2	23671	broad.mit.edu	37	2	193059203	193059203	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:193059203G>A	uc002utc.2	-	1	442	c.48C>T	c.(46-48)TGC>TGT	p.C16C	TMEFF2_uc002utd.1_Silent_p.C16C	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	16						extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AAAAGCCCTCGCAAAGTGTCC	0.592												
ALS2CR8	79800	broad.mit.edu	37	2	203817394	203817394	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:203817394G>A	uc002uzo.2	+	5	699	c.419G>A	c.(418-420)AGT>AAT	p.S140N	ALS2CR8_uc002uzn.2_Missense_Mutation_p.S38N|ALS2CR8_uc002uzm.2_Missense_Mutation_p.S140N|ALS2CR8_uc010zhy.1_Missense_Mutation_p.S140N|ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.S64N|ALS2CR8_uc010zib.1_Missense_Mutation_p.S64N|ALS2CR8_uc010zic.1_Missense_Mutation_p.S52N|ALS2CR8_uc002uzp.2_Missense_Mutation_p.S140N	NM_001104586	NP_001098056	Q8N187	AL2S8_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	140										large_intestine(1)|ovary(1)	2						GATGTGAATAGTCCTCGGGGT	0.408												
ERBB4	2066	broad.mit.edu	37	2	212483973	212483973	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:212483973C>A	uc002veg.1	-	19	2328	c.2230G>T	c.(2230-2232)GTG>TTG	p.V744L	ERBB4_uc002veh.1_Missense_Mutation_p.V744L|ERBB4_uc010zji.1_Missense_Mutation_p.V734L|ERBB4_uc010zjj.1_Missense_Mutation_p.V734L|ERBB4_uc010fut.1_Missense_Mutation_p.V744L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	744	Protein kinase.|Cytoplasmic (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)		GGAATCTTCACAGTTTCTCCT	0.368										TSP Lung(8;0.080)		
ABCA12	26154	broad.mit.edu	37	2	215914501	215914501	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:215914501C>T	uc002vew.2	-	6	762	c.542G>A	c.(541-543)CGA>CAA	p.R181Q	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	181					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAGTTCTCTTCGTATATCTTC	0.313												
ZNF142	7701	broad.mit.edu	37	2	219511046	219511046	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:219511046C>T	uc002vin.2	-	7	1735	c.1299G>A	c.(1297-1299)CTG>CTA	p.L433L	ZNF142_uc002vil.2_Silent_p.L394L|ZNF142_uc010fvt.2_Silent_p.L270L|ZNF142_uc002vim.2_Silent_p.L270L	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	433	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGAAGTCACACAGCTCACACT	0.502												
ZNF142	7701	broad.mit.edu	37	2	219513732	219513732	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:219513732C>T	uc002vin.2	-	6	1335	c.899G>A	c.(898-900)CGC>CAC	p.R300H	ZNF142_uc002vil.2_Missense_Mutation_p.R261H|ZNF142_uc010fvt.2_Missense_Mutation_p.R137H|ZNF142_uc002vim.2_Missense_Mutation_p.R137H	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	300	C2H2-type 4; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAAGGCCTTGCGGTCGGGTGC	0.612											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC23A3	151295	broad.mit.edu	37	2	220028197	220028197	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:220028197G>A	uc010zks.1	-	10	1465	c.1354C>T	c.(1354-1356)CGA>TGA	p.R452*	NHEJ1_uc002vjp.3_5'Flank|NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Nonsense_Mutation_p.R460*|SLC23A3_uc010fwb.2_Nonsense_Mutation_p.R335*	NM_001144889	NP_001138361	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	452	Cytoplasmic (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGATATTTCGCCCAGAGTCT	0.537												
TMEM198	130612	broad.mit.edu	37	2	220412244	220412244	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:220412244G>A	uc002vme.2	+	4	768	c.183G>A	c.(181-183)AAG>AAA	p.K61K	TMEM198_uc002vmf.2_Silent_p.K61K	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	61	Helical; (Potential).					integral to membrane				ovary(1)	1		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCTGCTTCAAGGCAGTGCTCT	0.607											OREG0003985	type=REGULATORY REGION|Gene=AK123175|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
INHA	3623	broad.mit.edu	37	2	220439496	220439496	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:220439496C>T	uc002vmk.1	+	2	493	c.349C>T	c.(349-351)CCA>TCA	p.P117S		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	117					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CATGTTCCGGCCATCCCAGCA	0.612												
EIF4E2	9470	broad.mit.edu	37	2	233421204	233421204	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:233421204G>A	uc002vta.2	+	2	177	c.99G>A	c.(97-99)ACG>ACA	p.T33T	EIF4E2_uc002vtb.1_Silent_p.T33T|EIF4E2_uc002vsz.2_Silent_p.T33T|EIF4E2_uc010zmi.1_Silent_p.T33T	NM_004846	NP_004837	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E	33					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding				0		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;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAAAAAACGGAACGAGACA	0.413												
INPP5D	3635	broad.mit.edu	37	2	233986852	233986852	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:233986852G>T	uc010zmo.1	+	3	387	c.234G>T	c.(232-234)AAG>AAT	p.K78N	INPP5D_uc010zmp.1_Missense_Mutation_p.K78N	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	78	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCTTCACCAAGCTGGACCAGC	0.522												
AGAP1	116987	broad.mit.edu	37	2	236706464	236706464	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:236706464G>A	uc002vvs.2	+	7	1330	c.735G>A	c.(733-735)TCG>TCA	p.S245S	AGAP1_uc002vvt.2_Silent_p.S245S	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	245	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						CCTGCAAGTCGCTACCTAATT	0.512												
STK25	10494	broad.mit.edu	37	2	242438129	242438129	+	Missense_Mutation	SNP	G	G	A	rs75331794		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:242438129G>A	uc002wbm.2	-	7	1113	c.842C>T	c.(841-843)ACG>ATG	p.T281M	STK25_uc002wbk.2_Missense_Mutation_p.T100M|STK25_uc002wbl.2_3'UTR|STK25_uc002wbn.2_Missense_Mutation_p.T281M|STK25_uc002wbo.2_Missense_Mutation_p.T204M|STK25_uc010zos.1_Missense_Mutation_p.T187M|STK25_uc010zot.1_Missense_Mutation_p.T207M|STK25_uc002wbp.2_Missense_Mutation_p.T281M|STK25_uc010fzo.2_Missense_Mutation_p.T204M|STK25_uc010zou.1_Missense_Mutation_p.T187M|STK25_uc010zov.1_Missense_Mutation_p.T187M	NM_006374	NP_006365	O00506	STK25_HUMAN	serine/threonine kinase 25	281					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GATGAGCTCCGTGAGGAAGGA	0.577												
SIGLEC1	6614	broad.mit.edu	37	20	3674201	3674201	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:3674201A>G	uc002wja.2	-	13	3401	c.3401T>C	c.(3400-3402)ATC>ACC	p.I1134T	SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Missense_Mutation_p.I1134T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1134	Ig-like C2-type 11.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						GGGCAGGGGGATGGAGTGGGC	0.657												
ISM1	140862	broad.mit.edu	37	20	13260512	13260512	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:13260512C>T	uc010gce.1	+	3	616	c.610C>T	c.(610-612)CGG>TGG	p.R204W	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	204						extracellular region					0						CCCAGGCCACCGGACTTTTGA	0.512												
MACROD2	140733	broad.mit.edu	37	20	13976362	13976362	+	Translation_Start_Site	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:13976362G>A	uc002wou.2	+	1	217	c.-47G>A	c.(-49--45)CCGTG>CCATG		MACROD2_uc002wot.2_Translation_Start_Site|SEL1L2_uc002wor.2_5'Flank|MACROD2_uc002wos.2_RNA	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1												0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTGTTTGCCCGTGAGCCTGGG	0.587												
CBFA2T2	9139	broad.mit.edu	37	20	32210942	32210942	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:32210942C>T	uc002wzg.1	+	6	1096	c.559C>T	c.(559-561)CGG>TGG	p.R187W	CBFA2T2_uc010zug.1_5'UTR|CBFA2T2_uc002wze.1_Missense_Mutation_p.R178W|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Missense_Mutation_p.R158W|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA	NM_005093	NP_005084	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit	187	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)|skin(1)	2						CCTGCTGCAGCGGGAACTGCT	0.577												
ACSS2	55902	broad.mit.edu	37	20	33501949	33501949	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:33501949G>A	uc002xbd.2	+	6	815	c.694G>A	c.(694-696)GAG>AAG	p.E232K	ACSS2_uc002xbc.2_Missense_Mutation_p.E137K|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Missense_Mutation_p.E232K|ACSS2_uc002xbe.2_Intron|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	232					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTGGCTGACGAGGCCCTGCA	0.542												
MYH7B	57644	broad.mit.edu	37	20	33583304	33583304	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:33583304G>A	uc002xbi.1	+	26	3084	c.2992G>A	c.(2992-2994)GAG>AAG	p.E998K		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	956	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGAGTGCACGGAGCTCAAGAA	0.622												
RPN2	6185	broad.mit.edu	37	20	35856962	35856962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:35856962C>T	uc002xgp.2	+	12	1613	c.1309C>T	c.(1309-1311)CGA>TGA	p.R437*	RPN2_uc002xgo.3_Nonsense_Mutation_p.R437*|RPN2_uc010gfw.2_Nonsense_Mutation_p.R280*|RPN2_uc002xgq.2_Nonsense_Mutation_p.R405*	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	437	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GACATTTGTCCGACTCCATAA	0.433												
ZHX3	23051	broad.mit.edu	37	20	39831063	39831063	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:39831063G>A	uc002xjs.1	-	3	2872	c.2494C>T	c.(2494-2496)CGA>TGA	p.R832*	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Nonsense_Mutation_p.R832*|ZHX3_uc002xjt.1_Nonsense_Mutation_p.R832*|ZHX3_uc002xju.1_Nonsense_Mutation_p.R832*|ZHX3_uc002xjv.1_Nonsense_Mutation_p.R832*|ZHX3_uc002xjw.1_Nonsense_Mutation_p.R832*|ZHX3_uc010ggg.1_Nonsense_Mutation_p.R832*	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	832					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				AAGTTGCCTCGCTTATAGTCT	0.562												
CHD6	84181	broad.mit.edu	37	20	40081526	40081526	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:40081526C>T	uc002xka.1	-	21	3355	c.3177G>A	c.(3175-3177)TCG>TCA	p.S1059S		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1059					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CTTCCTCAAACGAGTTGTAGT	0.507												
L3MBTL	26013	broad.mit.edu	37	20	42161519	42161519	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:42161519G>A	uc010zwh.1	+	12	1371	c.1325G>A	c.(1324-1326)CGC>CAC	p.R442H	L3MBTL_uc002xkl.2_Missense_Mutation_p.R374H|L3MBTL_uc002xkm.2_Missense_Mutation_p.R374H|L3MBTL_uc010ggl.2_Missense_Mutation_p.R374H|L3MBTL_uc002xkn.1_Missense_Mutation_p.R133H|L3MBTL_uc002xko.2_Missense_Mutation_p.R26H	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	374	MBT 2.				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)			GTGGACAGCCGCTTCCTGGTG	0.607												
RBPJL	11317	broad.mit.edu	37	20	43942683	43942683	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:43942683C>T	uc002xns.2	+	8	838	c.766C>T	c.(766-768)CAC>TAC	p.H256Y	RBPJL_uc002xnt.2_Missense_Mutation_p.H256Y	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	recombining binding protein L	256					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				AGCTGATGGGCACTCTGCCCA	0.587												
DNTTIP1	116092	broad.mit.edu	37	20	44439551	44439551	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:44439551C>T	uc002xpk.2	+	12	891	c.823C>T	c.(823-825)CGG>TGG	p.R275W	UBE2C_uc002xpl.2_5'Flank|UBE2C_uc002xpm.2_5'Flank|UBE2C_uc002xpn.2_5'Flank|UBE2C_uc002xpo.2_5'Flank|UBE2C_uc002xpp.2_5'Flank|UBE2C_uc002xpq.2_5'Flank	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	terminal deoxynucleotidyltransferase interacting	275						nucleus				ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.0122)				GGAGGACATCCGGGACCTTGC	0.537												
CDH22	64405	broad.mit.edu	37	20	44839124	44839124	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:44839124C>T	uc002xrm.2	-	6	1509	c.1108G>A	c.(1108-1110)GCC>ACC	p.A370T	CDH22_uc010ghk.1_Missense_Mutation_p.A370T|CDH22_uc002xrn.1_Missense_Mutation_p.A121T	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	370	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)				CCCAGGTCGGCGAAGCGGGGG	0.711												
NCOA3	8202	broad.mit.edu	37	20	46268544	46268544	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:46268544G>A	uc002xtk.2	+	15	3136	c.2931G>A	c.(2929-2931)CAG>CAA	p.Q977Q	NCOA3_uc010ght.1_Silent_p.Q972Q|NCOA3_uc002xtl.2_Silent_p.Q977Q|NCOA3_uc002xtm.2_Silent_p.Q977Q|NCOA3_uc002xtn.2_Silent_p.Q977Q|NCOA3_uc010zyc.1_Silent_p.Q772Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	977	Poly-Gln.				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						TATTGCAACAGCAGCAGCAGA	0.418												
PREX1	57580	broad.mit.edu	37	20	47262418	47262418	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:47262418G>A	uc002xtw.1	-	26	3506	c.3483C>T	c.(3481-3483)CAC>CAT	p.H1161H	PREX1_uc002xtv.1_Silent_p.H458H	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1161					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCATGGTGTCGTGGCCTGAGT	0.612												
ARFGEF2	10564	broad.mit.edu	37	20	47570300	47570300	+	Missense_Mutation	SNP	C	C	T	rs143570842	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:47570300C>T	uc002xtx.3	+	6	963	c.811C>T	c.(811-813)CCC>TCC	p.P271S		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	271					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGGAGACGCACCCAGAGAAAG	0.483												
ZNFX1	57169	broad.mit.edu	37	20	47871122	47871122	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:47871122G>A	uc002xui.2	-	10	3116	c.2869C>T	c.(2869-2871)CGC>TGC	p.R957C		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	957	Potential.						metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCTGATGTGCGGTACTGGCGT	0.512												
ZNFX1	57169	broad.mit.edu	37	20	47886802	47886802	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:47886802C>A	uc002xui.2	-	3	1794	c.1547G>T	c.(1546-1548)AGG>ATG	p.R516M		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	516							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGGACGTGCCTGTAGGCCTC	0.522												
ADNP	23394	broad.mit.edu	37	20	49509773	49509773	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:49509773T>C	uc002xvt.1	-	5	1823	c.1478A>G	c.(1477-1479)TAC>TGC	p.Y493C	ADNP_uc002xvu.1_Missense_Mutation_p.Y493C	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	493	C2H2-type 6; atypical.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GCGATTACAGTAGAGGCATTT	0.378												
SALL4	57167	broad.mit.edu	37	20	50408612	50408612	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:50408612C>T	uc002xwh.3	-	2	511	c.410G>A	c.(409-411)GGC>GAC	p.G137D	SALL4_uc010gii.2_Missense_Mutation_p.G137D|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	137					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGAGCTGCCGCCATTCTCCCT	0.587												
NTSR1	4923	broad.mit.edu	37	20	61340974	61340974	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:61340974G>A	uc002ydf.2	+	1	786	c.415G>A	c.(415-417)GCC>ACC	p.A139T		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	139	Extracellular (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CTTCGGCGACGCCGGCTGCCG	0.687												
COL9A3	1299	broad.mit.edu	37	20	61460839	61460839	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:61460839G>T	uc002ydm.2	+	20	1044	c.1041G>T	c.(1039-1041)GAG>GAT	p.E347D		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	347	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)					CCAAAGGCGAGAAGGGAGAAC	0.701												
COL20A1	57642	broad.mit.edu	37	20	61937277	61937277	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:61937277C>A	uc011aau.1	+	5	482	c.382C>A	c.(382-384)CCC>ACC	p.P128T	COL20A1_uc011aav.1_5'Flank	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	128					cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CAGCCAGAGGCCCCTCGGCTC	0.652												
EEF1A2	1917	broad.mit.edu	37	20	62126331	62126331	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:62126331C>T	uc002yfd.1	-	3	549	c.448G>A	c.(448-450)GTG>ATG	p.V150M	EEF1A2_uc002yfe.1_Missense_Mutation_p.V150M|EEF1A2_uc010gkg.1_Missense_Mutation_p.V150M	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	150						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TTCACGCCCACGATGAGCTGC	0.617												
ADAMTS5	11096	broad.mit.edu	37	21	28338436	28338436	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:28338436T>C	uc002ymg.2	-	1	1004	c.275A>G	c.(274-276)TAC>TGC	p.Y92C		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	92					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						GCCGCCCGCGTAGACGAGGTA	0.706												
GCFC1	94104	broad.mit.edu	37	21	34109677	34109677	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:34109677C>T	uc002yqn.2	-	17	2714	c.2524G>A	c.(2524-2526)GGA>AGA	p.G842R	uc002yqk.2_Intron|GCFC1_uc002yql.2_Missense_Mutation_p.G351R|GCFC1_uc002yqm.2_Missense_Mutation_p.G336R|GCFC1_uc002yqo.2_RNA	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	842						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						GTCCTTTCTCCTTTCAGATTC	0.323												
DYRK1A	1859	broad.mit.edu	37	21	38862643	38862643	+	Silent	SNP	G	G	A	rs138086853	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:38862643G>A	uc002ywk.2	+	6	906	c.831G>A	c.(829-831)GCG>GCA	p.A277A	DYRK1A_uc002ywi.2_Silent_p.A277A|DYRK1A_uc002ywj.2_Silent_p.A268A|DYRK1A_uc002ywl.2_Silent_p.A277A|DYRK1A_uc002ywm.2_Silent_p.A277A|DYRK1A_uc011aei.1_Silent_p.A38A	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	277	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4						TTTTCCTTGCGACTCCAGAAC	0.428												
UMODL1	89766	broad.mit.edu	37	21	43543205	43543205	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:43543205G>A	uc002zaf.1	+	17	3092	c.3092G>A	c.(3091-3093)GGC>GAC	p.G1031D	UMODL1_uc002zad.1_Missense_Mutation_p.G959D|UMODL1_uc002zae.1_Missense_Mutation_p.G1087D|UMODL1_uc002zag.1_Missense_Mutation_p.G1159D|UMODL1_uc002zal.1_5'UTR	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	1031	Extracellular (Potential).|ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CACAGCAATGGCACACACGTG	0.617												
C21orf29	54084	broad.mit.edu	37	21	45953725	45953725	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:45953725G>A	uc002zfe.1	-	3	451	c.385C>T	c.(385-387)CAC>TAC	p.H129Y	C21orf29_uc010gpv.1_Missense_Mutation_p.H61Y	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	129	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity				0						AACAGGAAGTGCAGCTGGGCA	0.682												
ITGB2	3689	broad.mit.edu	37	21	46321416	46321416	+	Silent	SNP	G	G	A	rs146557638	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:46321416G>A	uc002zgd.2	-	5	776	c.732C>T	c.(730-732)GCC>GCT	p.A244A	ITGB2_uc002zge.2_Silent_p.A244A|ITGB2_uc002zgf.3_Silent_p.A244A|ITGB2_uc011afl.1_Silent_p.A166A|ITGB2_uc010gpw.2_Silent_p.A187A|ITGB2_uc002zgg.2_Silent_p.A244A	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	244	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCGGGCAGGCGGCGACCTGCA	0.677												
COL6A2	1292	broad.mit.edu	37	21	47531966	47531966	+	Silent	SNP	G	G	A	rs143583433	by1000genomes	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:47531966G>A	uc002zia.1	+	3	271	c.189G>A	c.(187-189)ACG>ACA	p.T63T	COL6A2_uc002zhy.1_Silent_p.T63T|COL6A2_uc002zhz.1_Silent_p.T63T|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	63	VWFA 1.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGTCCCCCACGGACATCCTGC	0.612												
CCT8L2	150160	broad.mit.edu	37	22	17073169	17073169	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:17073169C>T	uc002zlp.1	-	1	532	c.272G>A	c.(271-273)CGG>CAG	p.R91Q		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	91					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCCTGCTTCCCGGAGGAGCCA	0.602												
TRMT2A	27037	broad.mit.edu	37	22	20100513	20100513	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:20100513C>A	uc002zrk.1	-	12	1782	c.1567G>T	c.(1567-1569)GCC>TCC	p.A523S	TRMT2A_uc002zrl.1_Missense_Mutation_p.A523S|TRMT2A_uc002zrm.1_Missense_Mutation_p.A345S|TRMT2A_uc002zrn.1_Missense_Mutation_p.A541S	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	523					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						CTCCGGATGGCCAGGATCACC	0.602												
HIC2	23119	broad.mit.edu	37	22	21801009	21801009	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:21801009C>T	uc002zur.3	+	3	2055	c.1825C>T	c.(1825-1827)CGC>TGC	p.R609C	HIC2_uc002zus.3_Missense_Mutation_p.R609C	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	609	C2H2-type 5.				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)				CAGCCACCTGCGCATGCACAC	0.642												
OSM	5008	broad.mit.edu	37	22	30659979	30659979	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:30659979G>A	uc003ahb.2	-	3	704	c.652C>T	c.(652-654)CGG>TGG	p.R218W		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	218					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			CTCCGGCTCCGGTTCGGGCTC	0.642												
TBC1D10A	83874	broad.mit.edu	37	22	30690081	30690081	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:30690081C>T	uc011akt.1	-	7	748	c.724G>A	c.(724-726)GGG>AGG	p.G242R	GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Missense_Mutation_p.G100R|TBC1D10A_uc003ahj.3_Missense_Mutation_p.G154R|TBC1D10A_uc010gvu.2_Missense_Mutation_p.G249R|TBC1D10A_uc003ahk.3_Missense_Mutation_p.G242R	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	242	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						AGGATCTCCCCGTCCAGCTGG	0.552												
PATZ1	23598	broad.mit.edu	37	22	31723045	31723045	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:31723045G>A	uc003akq.2	-	5	2557	c.1896C>T	c.(1894-1896)CTC>CTT	p.L632L	PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Silent_p.L586L	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	632					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						GGGGGCCCCCGAGAGCCCGGA	0.562												
FBXO7	25793	broad.mit.edu	37	22	32879930	32879930	+	Missense_Mutation	SNP	C	C	T	rs61730784		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:32879930C>T	uc003amq.2	+	3	747	c.464C>T	c.(463-465)GCG>GTG	p.A155V	FBXO7_uc003amp.1_Missense_Mutation_p.A41V|FBXO7_uc003amr.2_Missense_Mutation_p.A41V|FBXO7_uc003ams.2_5'UTR|FBXO7_uc003amt.2_Missense_Mutation_p.A76V|FBXO7_uc003amu.2_Missense_Mutation_p.A41V	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	155					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						CAAGATAATGCGCATATGGCA	0.383												
APOL6	80830	broad.mit.edu	37	22	36055096	36055096	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:36055096A>G	uc003aoe.2	+	3	779	c.485A>G	c.(484-486)GAC>GGC	p.D162G	APOL6_uc003aod.2_RNA	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN	apolipoprotein L6	162					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity				0						GAGAAGGCAGACTATGTCACA	0.473												
SSTR3	6753	broad.mit.edu	37	22	37603678	37603678	+	Silent	SNP	G	G	A	rs142559355		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:37603678G>A	uc003ara.2	-	2	227	c.165C>T	c.(163-165)TGC>TGT	p.C55C	SSTR3_uc003arb.2_Silent_p.C55C	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	55	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						GGCCCACCACGCACACCACCA	0.667												
ELFN2	114794	broad.mit.edu	37	22	37770721	37770721	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:37770721G>A	uc003asq.3	-	3	1640	c.854C>T	c.(853-855)CCG>CTG	p.P285L		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	285	Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					CGAGGCCGGCGGCTCCACCGA	0.687												
DDX17	10521	broad.mit.edu	37	22	38895435	38895435	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:38895435C>T	uc003avy.3	-	3	611	c.508G>A	c.(508-510)GTG>ATG	p.V170M	DDX17_uc003avx.3_Missense_Mutation_p.V170M|DDX17_uc011anu.1_Missense_Mutation_p.V83M	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	91					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(3)|upper_aerodigestive_tract(1)	4	Melanoma(58;0.0286)					AAGGCAAACACGGGTTTAGGA	0.398												
RPL3	6122	broad.mit.edu	37	22	39710798	39710798	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:39710798G>T	uc003axi.2	-	6	810	c.742C>A	c.(742-744)CTG>ATG	p.L248M	RPL3_uc003axh.2_Missense_Mutation_p.L199M|RPL3_uc003axj.2_Missense_Mutation_p.L96M|RPL3_uc010gxx.2_Missense_Mutation_p.L196M|RPL3_uc003axg.2_Missense_Mutation_p.L196M|RPL3_uc003axk.1_Missense_Mutation_p.L96M	NM_000967	NP_000958	P39023	RL3_HUMAN	ribosomal protein L3 isoform a	248					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(1)	2	Melanoma(58;0.04)					ACCTTGCGCAGGCCTCGGTGG	0.602												
GRAP2	9402	broad.mit.edu	37	22	40364053	40364053	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:40364053G>A	uc003ayh.1	+	6	730	c.467G>A	c.(466-468)CGG>CAG	p.R156Q	GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Missense_Mutation_p.R130Q|GRAP2_uc011aon.1_Missense_Mutation_p.R90Q|GRAP2_uc010gya.1_Missense_Mutation_p.R156Q|GRAP2_uc011aoo.1_Missense_Mutation_p.R84Q|GRAP2_uc011aop.1_Missense_Mutation_p.R116Q|GRAP2_uc011aoq.1_Missense_Mutation_p.R43Q|GRAP2_uc003ayj.1_Missense_Mutation_p.R156Q	NM_004810	NP_004801	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	156					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						CAGGGTCACCGGGGCAACAGC	0.612												
CYP2D6	1565	broad.mit.edu	37	22	42524821	42524821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:42524821C>A	uc003bce.2	-	4	721	c.631G>T	c.(631-633)GAG>TAG	p.E211*	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_5'UTR|CYP2D6_uc003bcf.2_Nonsense_Mutation_p.E160*	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,	211							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2						TTCAGTCCCTCCTGAGCTAGG	0.662												
SELO	83642	broad.mit.edu	37	22	50655637	50655637	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:50655637C>T	uc011arr.1	+	9	1907	c.1849C>T	c.(1849-1851)CGG>TGG	p.R617W	SELO_uc010hap.2_Missense_Mutation_p.R428W|SELO_uc003bjy.2_Missense_Mutation_p.R297W|SELO_uc003bjz.2_Missense_Mutation_p.R368W	NM_031454	NP_113642	Q9BVL4	SELO_HUMAN	selenoprotein O	617											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)		CCTCCAGGTGCGGCGGGTGCT	0.711												
TUBGCP6	85378	broad.mit.edu	37	22	50660487	50660487	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:50660487C>T	uc003bkb.1	-	15	2966	c.2454G>A	c.(2452-2454)CCG>CCA	p.P818P	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Silent_p.P810P|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Silent_p.P14P	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	818					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)		GGACGTCTGGCGGCTCCTGGG	0.607												
SBF1	6305	broad.mit.edu	37	22	50885799	50885799	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:50885799C>T	uc003blh.2	-	40	5730	c.5535G>A	c.(5533-5535)ACG>ACA	p.T1845T	SBF1_uc003ble.2_Silent_p.T309T|SBF1_uc003blf.2_Silent_p.T321T|SBF1_uc011arx.1_Silent_p.T1483T	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1819	PH.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCATAGTGGGCGTGCCAGGTG	0.647												
LMCD1	29995	broad.mit.edu	37	3	8578959	8578959	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:8578959A>G	uc003bqq.2	+	3	334	c.220A>G	c.(220-222)ATG>GTG	p.M74V	LMCD1_uc011atd.1_Missense_Mutation_p.M1V|LMCD1_uc011ate.1_Intron|LMCD1_uc011atf.1_Missense_Mutation_p.M1V	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	74					positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		CCGCTTGCTGATGGACTCCAA	0.522												
MTMR14	64419	broad.mit.edu	37	3	9695311	9695311	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:9695311C>T	uc003brz.2	+	2	290	c.166C>T	c.(166-168)CGC>TGC	p.R56C	MTMR14_uc003bsa.2_Missense_Mutation_p.R56C|MTMR14_uc003bsb.2_Missense_Mutation_p.R56C|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Intron	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	56						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					GCAGGTTGAGCGCATTGAGAA	0.507												
IL17RE	132014	broad.mit.edu	37	3	9952628	9952628	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:9952628C>T	uc003btu.2	+	10	999	c.882C>T	c.(880-882)CGC>CGT	p.R294R	CIDEC_uc003bto.2_Intron|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Silent_p.R294R|IL17RE_uc003btx.2_Silent_p.R178R|IL17RE_uc010hcq.2_Silent_p.R294R|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	294	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TGACACTCCGCTGCCCACTGA	0.592												
RAF1	5894	broad.mit.edu	37	3	12626629	12626629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:12626629G>A	uc003bxf.3	-	15	2075	c.1660C>T	c.(1660-1662)CGA>TGA	p.R554*	RAF1_uc011aut.1_Nonsense_Mutation_p.R339*|RAF1_uc011auu.1_Nonsense_Mutation_p.R472*	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	554	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	ACCTGATCTCGGTTGTTGATG	0.507			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome			
SATB1	6304	broad.mit.edu	37	3	18458392	18458392	+	Splice_Site	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:18458392A>G	uc003cbh.2	-	3	2123	c.388_splice	c.e3+1	p.G130_splice	SATB1_uc003cbi.2_Splice_Site_p.G130_splice|SATB1_uc003cbj.2_Splice_Site_p.G130_splice	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1						cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						CACATTATTTACCTTTGGCCT	0.403												
KAT2B	8850	broad.mit.edu	37	3	20136884	20136884	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:20136884A>G	uc003cbq.2	+	3	1006	c.560A>G	c.(559-561)TAT>TGT	p.Y187C		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	187					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AAACAAGTTTATTTCTATCTA	0.373												
TRIM71	131405	broad.mit.edu	37	3	32932852	32932852	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:32932852C>T	uc003cff.2	+	4	2219	c.2156C>T	c.(2155-2157)ACG>ATG	p.T719M		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	719	NHL 3.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GTCTCAGACACGAGGAACCAC	0.537												
SUSD5	26032	broad.mit.edu	37	3	33194911	33194911	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:33194911C>T	uc003cfo.1	-	5	1631	c.1213G>A	c.(1213-1215)GTC>ATC	p.V405I		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	405	Extracellular (Potential).				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2						GTAACTAGGACGTTTTCATCC	0.532												
DLEC1	9940	broad.mit.edu	37	3	38125694	38125694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:38125694C>T	uc003cho.1	+	7	1240	c.1219C>T	c.(1219-1221)CGA>TGA	p.R407*	DLEC1_uc003chp.1_Nonsense_Mutation_p.R407*|DLEC1_uc010hgv.1_Nonsense_Mutation_p.R407*|DLEC1_uc010hgw.1_Nonsense_Mutation_p.R106*|DLEC1_uc003chq.1_RNA	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	407					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)		CCGCTACCTGCGAGTCCTCCC	0.328												
XIRP1	165904	broad.mit.edu	37	3	39229878	39229878	+	Silent	SNP	C	C	T	rs6790392		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:39229878C>T	uc003cjk.1	-	2	1280	c.1059G>A	c.(1057-1059)GCG>GCA	p.A353A	XIRP1_uc003cji.2_Silent_p.A353A|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	353	Xin 8.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAGTGTCCAGCGCTCGGGTCT	0.577												
VIPR1	7433	broad.mit.edu	37	3	42569498	42569498	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:42569498G>A	uc003clf.2	+	6	643	c.519G>A	c.(517-519)ACG>ACA	p.T173T	VIPR1_uc011azl.1_Silent_p.T125T|VIPR1_uc011azm.1_Intron|VIPR1_uc011azn.1_Silent_p.T146T	NM_004624	NP_004615	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	173	Cytoplasmic (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TCCACTGCACGCGGAACTACA	0.592												
NKTR	4820	broad.mit.edu	37	3	42660575	42660575	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:42660575G>A	uc003clo.2	+	4	344	c.197G>A	c.(196-198)CGT>CAT	p.R66H	NKTR_uc003cll.1_Missense_Mutation_p.R66H|NKTR_uc003clm.1_Translation_Start_Site|NKTR_uc003clp.2_Translation_Start_Site|NKTR_uc011azp.1_Translation_Start_Site|NKTR_uc003clq.1_5'Flank	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	66	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ACGTTCCATCGTGTGGTTAAA	0.338												
HHATL	57467	broad.mit.edu	37	3	42740617	42740617	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:42740617C>A	uc003clw.2	-	5	342	c.195G>T	c.(193-195)TGG>TGT	p.W65C	HHATL_uc003clx.2_Missense_Mutation_p.W65C	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	65	Helical; (Potential).				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)		ACCACATCACCCACTCGAAGT	0.597												
KIF15	56992	broad.mit.edu	37	3	44841893	44841893	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:44841893T>C	uc003cnx.3	+	11	1335	c.1186T>C	c.(1186-1188)TCA>CCA	p.S396P	KIF15_uc010hiq.2_Missense_Mutation_p.S299P|KIF15_uc003cny.1_Missense_Mutation_p.S31P	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	396	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GGAGCTTGCTTCAGGACAGAC	0.468												
CDCP1	64866	broad.mit.edu	37	3	45134843	45134843	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:45134843C>T	uc003com.2	-	6	1688	c.1553G>A	c.(1552-1554)CGC>CAC	p.R518H		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	518	CUB.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGCAAAGGTGCGAAGGGTCAC	0.567												
LTF	4057	broad.mit.edu	37	3	46496879	46496879	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:46496879A>T	uc003cpq.2	-	5	591	c.553T>A	c.(553-555)TTC>ATC	p.F185I	LTF_uc003fzr.2_Missense_Mutation_p.F141I|LTF_uc010hjh.2_Missense_Mutation_p.F185I|LTF_uc003cpr.2_Missense_Mutation_p.F172I	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	185	Transferrin-like 1.				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)	AGGTTGGGGAACTGTCCTTTA	0.552												
KLHDC8B	200942	broad.mit.edu	37	3	49212180	49212180	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:49212180C>T	uc003cwh.2	+	4	732	c.547C>T	c.(547-549)CGC>TGC	p.R183C	KLHDC8B_uc003cwi.1_Missense_Mutation_p.R56C	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	183	Kelch 5.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACAGGGGGCCGCCAGGGCAA	0.622												
GNAT1	2779	broad.mit.edu	37	3	50231006	50231006	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:50231006C>T	uc003cym.2	+	4	475	c.359C>T	c.(358-360)TCG>TTG	p.S120L	GNAT1_uc003cyl.2_Missense_Mutation_p.S120L	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	120					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGGAGATGTCGGACATCATC	0.617												
HYAL1	3373	broad.mit.edu	37	3	50339849	50339849	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:50339849C>T	uc003czp.2	-	2	671	c.539G>A	c.(538-540)CGG>CAG	p.R180Q	HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_5'UTR|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Missense_Mutation_p.R180Q|HYAL1_uc003czr.2_Missense_Mutation_p.R180Q|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.R180Q|HYAL1_uc003czt.2_Missense_Mutation_p.R180Q	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	180						extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	CATCCAGGCCCGTGCAGCTCC	0.642												
HEMK1	51409	broad.mit.edu	37	3	50609606	50609606	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:50609606G>A	uc003dau.2	+	4	677	c.381G>A	c.(379-381)GTG>GTA	p.V127V	C3orf18_uc003dat.2_5'Flank|HEMK1_uc003dav.2_Silent_p.V127V|HEMK1_uc003daw.2_Silent_p.V127V	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	127					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		TAAGGATGGTGCCCCCAGTGT	0.597											OREG0015589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PARP3	10039	broad.mit.edu	37	3	51979583	51979583	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:51979583C>T	uc003dby.2	+	7	1305	c.934C>T	c.(934-936)CCA>TCA	p.P312S	PARP3_uc003dbz.2_Missense_Mutation_p.P319S	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	312					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGAGGAGGTGCCACACCCCCT	0.627												
BAP1	8314	broad.mit.edu	37	3	52441201	52441201	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:52441201G>T	uc003ddx.2	-	7	684	c.569C>A	c.(568-570)CCC>CAC	p.P190H	BAP1_uc010hmh.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	190					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ATGGTCAATGGGGTAGACCTT	0.587			N|Mis|F|S|O		uveal melanoma|breast|NSCLC							
BAP1	8314	broad.mit.edu	37	3	52441246	52441246	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:52441246G>T	uc003ddx.2	-	7	639	c.524C>A	c.(523-525)CCT>CAT	p.P175H	BAP1_uc010hmh.2_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	175					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GCCTGTGATAGGCACATAGCT	0.587			N|Mis|F|S|O		uveal melanoma|breast|NSCLC							
CACNA1D	776	broad.mit.edu	37	3	53769406	53769406	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:53769406G>A	uc003dgv.3	+	20	2790	c.2627G>A	c.(2626-2628)CGC>CAC	p.R876H	CACNA1D_uc003dgu.3_Missense_Mutation_p.R896H|CACNA1D_uc003dgy.3_Missense_Mutation_p.R876H|CACNA1D_uc003dgw.3_Missense_Mutation_p.R543H|CACNA1D_uc003dgx.1_Missense_Mutation_p.R24H	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	876	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)	TGCAGGATCCGCGTAGGCTGC	0.587												
FLNB	2317	broad.mit.edu	37	3	58083690	58083690	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:58083690A>G	uc003djj.2	+	7	1298	c.1133A>G	c.(1132-1134)GAC>GGC	p.D378G	FLNB_uc010hne.2_Missense_Mutation_p.D378G|FLNB_uc003djk.2_Missense_Mutation_p.D378G|FLNB_uc010hnf.2_Missense_Mutation_p.D378G|FLNB_uc003djl.2_Missense_Mutation_p.D209G|FLNB_uc003djm.2_Missense_Mutation_p.D209G	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	378	Filamin 2.				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)		ACCTACTTTGACATCTATACG	0.517												
CEP97	79598	broad.mit.edu	37	3	101477150	101477150	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:101477150C>T	uc003dvk.1	+	9	1727	c.1700C>T	c.(1699-1701)GCC>GTC	p.A567V	CEP97_uc010hpm.1_Missense_Mutation_p.A533V|CEP97_uc011bhf.1_Missense_Mutation_p.A508V|CEP97_uc003dvl.1_Missense_Mutation_p.A263V|CEP97_uc003dvm.1_Missense_Mutation_p.A405V	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	567	IQ.|CEP110 binding.					centrosome|nucleus	protein binding			ovary(2)	2						AAGCTTCAGGCCTGTTGGCGG	0.463												
C3orf17	25871	broad.mit.edu	37	3	112724792	112724792	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:112724792G>A	uc003dzr.2	-	9	1356	c.1295C>T	c.(1294-1296)TCA>TTA	p.S432L	GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.S57L|C3orf17_uc011bhz.1_Missense_Mutation_p.S57L|C3orf17_uc010hqh.2_Missense_Mutation_p.S57L|C3orf17_uc003dzt.2_Missense_Mutation_p.S335L|C3orf17_uc003dzs.2_Missense_Mutation_p.S296L|C3orf17_uc010hqg.2_Missense_Mutation_p.S257L|C3orf17_uc011bia.1_Missense_Mutation_p.S229L|C3orf17_uc003dzu.2_Missense_Mutation_p.S361L|C3orf17_uc011bib.1_Missense_Mutation_p.S321L|C3orf17_uc011bic.1_Missense_Mutation_p.S265L|C3orf17_uc011bid.1_RNA	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	432						integral to membrane					0						TTTGATACCTGAGCCACGAAG	0.388												
ZBTB20	26137	broad.mit.edu	37	3	114070565	114070565	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:114070565G>A	uc003ebi.2	-	4	540	c.360C>T	c.(358-360)TGC>TGT	p.C120C	ZBTB20_uc003ebj.2_Silent_p.C47C|ZBTB20_uc010hqp.2_Silent_p.C47C|ZBTB20_uc003ebk.2_Silent_p.C47C|ZBTB20_uc003ebl.2_Silent_p.C47C|ZBTB20_uc003ebm.2_Silent_p.C47C|ZBTB20_uc003ebn.2_Silent_p.C47C|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	120	BTB.				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)		CTGCCAGCACGCAGCGGTGTG	0.622												
KTELC1	56983	broad.mit.edu	37	3	119211200	119211200	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:119211200A>T	uc003ecm.2	+	11	1178	c.1094A>T	c.(1093-1095)GAA>GTA	p.E365V	KTELC1_uc011bja.1_Missense_Mutation_p.E206V	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	365						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		CTCTTGAGTGAATACTCTAAA	0.358												
FBXO40	51725	broad.mit.edu	37	3	121340550	121340550	+	Missense_Mutation	SNP	G	G	A	rs148128733	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:121340550G>A	uc003eeg.2	+	3	484	c.274G>A	c.(274-276)GTG>ATG	p.V92M		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	92	TRAF-type.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		CCCCGCCAGCGTGGTCTGCTG	0.567												
DIRC2	84925	broad.mit.edu	37	3	122591444	122591444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:122591444G>T	uc003efw.3	+	8	1460	c.1321G>T	c.(1321-1323)GAG>TAG	p.E441*	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Nonsense_Mutation_p.E279*	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	441					transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		TTATCATACAGGTAAGAAATT	0.308												
ADCY5	111	broad.mit.edu	37	3	123005567	123005567	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:123005567G>A	uc003egh.1	-	20	3622	c.3622C>T	c.(3622-3624)CGC>TGC	p.R1208C	ADCY5_uc003egg.1_Missense_Mutation_p.R866C	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	1208	Cytoplasmic (Potential).|Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		CTGTCCATGCGGCTGGCCACG	0.647											OREG0004289|OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ADCY5|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)
KALRN	8997	broad.mit.edu	37	3	124196165	124196165	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:124196165C>T	uc003ehg.2	+	27	4296	c.4169C>T	c.(4168-4170)GCG>GTG	p.A1390V	KALRN_uc010hrv.1_Missense_Mutation_p.A1381V|KALRN_uc003ehf.1_Missense_Mutation_p.A1390V|KALRN_uc011bjy.1_Missense_Mutation_p.A1381V|KALRN_uc003ehh.1_Missense_Mutation_p.A736V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1390	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CTGGAGCATGCGGGCACCTTC	0.403												
KALRN	8997	broad.mit.edu	37	3	124416461	124416461	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:124416461G>A	uc003ehg.2	+	55	7848	c.7721G>A	c.(7720-7722)CGC>CAC	p.R2574H	KALRN_uc003ehk.2_Missense_Mutation_p.R877H	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2573	Fibronectin type-III.				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						GCCCCTAACCGCCCCATTGCC	0.517												
SLC12A8	84561	broad.mit.edu	37	3	124909345	124909345	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:124909345C>T	uc003ehv.3	-	3	183	c.72G>A	c.(70-72)CAG>CAA	p.Q24Q	SLC12A8_uc003ehw.3_Silent_p.Q53Q|SLC12A8_uc010hrz.1_5'UTR	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	24					potassium ion transport	integral to membrane	symporter activity				0						TCCACCAGGGCTGGGGCTGGG	0.582												
PLXND1	23129	broad.mit.edu	37	3	129293232	129293232	+	Missense_Mutation	SNP	G	G	A	rs141047735		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:129293232G>A	uc003emx.2	-	12	2732	c.2632C>T	c.(2632-2634)CGG>TGG	p.R878W		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	878	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						AGAGGCCCCCGCAGGCGGCAG	0.687												
AMOTL2	51421	broad.mit.edu	37	3	134080596	134080596	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:134080596G>A	uc003eqf.2	-	6	1624	c.1507C>T	c.(1507-1509)CGC>TGC	p.R503C	AMOTL2_uc003eqg.1_Missense_Mutation_p.R445C|AMOTL2_uc003eqh.1_Missense_Mutation_p.R445C|AMOTL2_uc003eqe.1_Missense_Mutation_p.R70C	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	445	Potential.									large_intestine(1)	1						ATGGCGCCGCGCAGCAGTGCC	0.647												
STAG1	10274	broad.mit.edu	37	3	136342004	136342004	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:136342004C>T	uc003era.1	-	3	408	c.116G>A	c.(115-117)CGT>CAT	p.R39H	STAG1_uc003erb.1_Missense_Mutation_p.R39H|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.2_Missense_Mutation_p.R39H	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	39					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						CCGGCCAGGACGACCCCTTTT	0.403												
DZIP1L	199221	broad.mit.edu	37	3	137822444	137822444	+	Missense_Mutation	SNP	G	G	A	rs145919527		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:137822444G>A	uc003erq.2	-	2	733	c.370C>T	c.(370-372)CGT>TGT	p.R124C	DZIP1L_uc003err.1_Missense_Mutation_p.R124C	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	124						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						TGCTGACCACGCTGCTGCTGG	0.652												
CLSTN2	64084	broad.mit.edu	37	3	140167465	140167465	+	Missense_Mutation	SNP	G	G	A	rs142015908		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:140167465G>A	uc003etn.2	+	6	1082	c.892G>A	c.(892-894)GTC>ATC	p.V298I	CLSTN2_uc003etm.2_Missense_Mutation_p.V298I	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	298	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						CCTCCAGATCGTCACAGAGCT	0.537										HNSCC(16;0.037)		
SLC9A9	285195	broad.mit.edu	37	3	143513880	143513880	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:143513880C>T	uc003evn.2	-	4	678	c.496G>A	c.(496-498)GCC>ACC	p.A166T	SLC9A9_uc011bnk.1_Missense_Mutation_p.A40T	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	166	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						CCCAAGAAGGCATACGTTAAA	0.408												
ZIC1	7545	broad.mit.edu	37	3	147128364	147128364	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:147128364G>A	uc003ewe.2	+	1	1184	c.465G>A	c.(463-465)TCG>TCA	p.S155S		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	155					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						GCCACGCGTCGCCTAACGTGG	0.716												
HPS3	84343	broad.mit.edu	37	3	148871345	148871345	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:148871345C>T	uc003ewu.1	+	7	1450	c.1310C>T	c.(1309-1311)GCC>GTC	p.A437V	HPS3_uc003ewt.1_Missense_Mutation_p.A437V|HPS3_uc011bnq.1_Missense_Mutation_p.A272V	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	437						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGCTTGAAAGCCATCTGTCAC	0.403									Hermansky-Pudlak_syndrome			
MFSD1	64747	broad.mit.edu	37	3	158520106	158520106	+	Splice_Site	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:158520106T>C	uc003fcl.1	+	1	193	c.163_splice	c.e1+2	p.G55_splice	MFSD1_uc003fcm.1_Splice_Site|MFSD1_uc003fcn.1_Splice_Site|MFSD1_uc011bow.1_Splice_Site_p.A55_splice|MFSD1_uc011box.1_Intron	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing						transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTGGCTTTGGTGAGCCGGCCG	0.647												
SLITRK3	22865	broad.mit.edu	37	3	164906575	164906575	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:164906575G>A	uc003fej.3	-	2	2488	c.2044C>T	c.(2044-2046)CGT>TGT	p.R682C	SLITRK3_uc003fek.2_Missense_Mutation_p.R682C	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	682	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						TTCTTTCGACGCCTTCGGAGC	0.502										HNSCC(40;0.11)		
PIK3CA	5290	broad.mit.edu	37	3	178947200	178947200	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:178947200A>G	uc003fjk.2	+	18	2793	c.2636A>G	c.(2635-2637)CAG>CGG	p.Q879R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	879	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACACTACATCAGTGGCTCAAA	0.403		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
DCUN1D1	54165	broad.mit.edu	37	3	182683470	182683470	+	Silent	SNP	T	T	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:182683470T>G	uc003fld.1	-	2	124	c.75A>C	c.(73-75)ACA>ACC	p.T25T	DCUN1D1_uc011bqn.1_5'UTR	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	25	UBA-like.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AACTTACTGCTGTTTTTTCAC	0.323												
TBCCD1	55171	broad.mit.edu	37	3	186272478	186272478	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:186272478A>G	uc003fqg.2	-	6	1238	c.1109T>C	c.(1108-1110)CTT>CCT	p.L370P	TBCCD1_uc011bry.1_Missense_Mutation_p.L370P|TBCCD1_uc003fqh.2_Missense_Mutation_p.L274P	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	370	C-CAP/cofactor C-like.				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			large_intestine(1)|ovary(1)	2	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		GTGGAGGTGAAGTGTAGTCCC	0.418												
APOD	347	broad.mit.edu	37	3	195295967	195295967	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:195295967T>C	uc003fur.2	-	5	736	c.374A>G	c.(373-375)TAT>TGT	p.Y125C		NM_001647	NP_001638	P05090	APOD_HUMAN	apolipoprotein D precursor	125					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)		ATAGTTCTCATAGTCGGTGGC	0.493												
LRRC33	375387	broad.mit.edu	37	3	196386837	196386837	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:196386837G>A	uc003fwv.2	+	3	427	c.323G>A	c.(322-324)CGC>CAC	p.R108H		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	108	Extracellular (Potential).|LRR 3.					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)		GGTCACCTGCGCAGCCTGGTC	0.672												
PDE6B	5158	broad.mit.edu	37	4	619660	619660	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:619660G>A	uc003gap.2	+	1	298	c.245G>A	c.(244-246)CGC>CAC	p.R82H	PDE6B_uc003gao.3_Missense_Mutation_p.R82H	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	82	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						GTCCTGCGGCGCCTCTGCACC	0.662												
TACC3	10460	broad.mit.edu	37	4	1730345	1730345	+	Missense_Mutation	SNP	G	G	A	rs142494551	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:1730345G>A	uc003gdo.2	+	4	1324	c.1216G>A	c.(1216-1218)GAC>AAC	p.D406N	TACC3_uc010ibz.2_Missense_Mutation_p.D406N|TACC3_uc003gdp.2_Intron|TACC3_uc010ica.2_5'Flank	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	406				D -> G (in Ref. 2; CAB53009).		centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TTACCACCTCGACTGGGACAA	0.622												
RGS12	6002	broad.mit.edu	37	4	3418713	3418713	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:3418713C>T	uc003ggw.2	+	8	3405	c.2501C>T	c.(2500-2502)GCG>GTG	p.A834V	RGS12_uc010ics.1_Missense_Mutation_p.A33V|RGS12_uc003ggv.2_Missense_Mutation_p.A834V|RGS12_uc003ggy.1_Missense_Mutation_p.A232V|RGS12_uc010ict.1_Missense_Mutation_p.A186V|RGS12_uc003ggz.2_Missense_Mutation_p.A186V|RGS12_uc010icu.1_Missense_Mutation_p.A33V|RGS12_uc011bvs.1_Missense_Mutation_p.A176V|RGS12_uc003gha.2_Missense_Mutation_p.A176V|RGS12_uc010icv.2_Missense_Mutation_p.A33V|RGS12_uc003ghb.2_Missense_Mutation_p.A33V	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	834						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCATCCTGGCGGAAGTGGAG	0.582												
RGS12	6002	broad.mit.edu	37	4	3432638	3432638	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:3432638C>T	uc003ggw.2	+	17	4974	c.4070C>T	c.(4069-4071)CCG>CTG	p.P1357L	RGS12_uc003ggv.2_Missense_Mutation_p.P1357L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Missense_Mutation_p.P709L|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Missense_Mutation_p.P699L|RGS12_uc010icv.2_Missense_Mutation_p.P556L	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1357						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCTTGCTGCCGCCGCCCTCC	0.667												
JAKMIP1	152789	broad.mit.edu	37	4	6107477	6107477	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:6107477G>A	uc003giu.3	-	3	623	c.347C>T	c.(346-348)ACG>ATG	p.T116M	JAKMIP1_uc010idb.1_Missense_Mutation_p.T116M|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.T116M|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.T116M|JAKMIP1_uc010ide.2_Missense_Mutation_p.T116M	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	116	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						CACGTTCAGCGTGGCCTGCAG	0.731												
SH3TC1	54436	broad.mit.edu	37	4	8229128	8229128	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:8229128G>A	uc003gkv.3	+	12	1808	c.1707G>A	c.(1705-1707)CTG>CTA	p.L569L	SH3TC1_uc003gkw.3_Silent_p.L493L|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	569	TPR 1.						binding			large_intestine(2)|pancreas(1)	3						TGGGGCGGCTGTGCAGCAGGA	0.692												
GPR125	166647	broad.mit.edu	37	4	22422644	22422644	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:22422644G>A	uc003gqm.1	-	12	1939	c.1674C>T	c.(1672-1674)ACC>ACT	p.T558T	GPR125_uc010ieo.1_Silent_p.T432T|GPR125_uc003gqn.1_Silent_p.T332T|GPR125_uc003gqo.2_Silent_p.T558T	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	558	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				TCTGGAACACGGTACAGGTCA	0.473												
GBA3	57733	broad.mit.edu	37	4	22749375	22749375	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:22749375C>T	uc003gqp.3	+	3	834	c.743C>T	c.(742-744)ACT>ATT	p.T248I	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.T249I	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	248					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0						AGAGCCATCACTTTCCATCTG	0.438												
NFXL1	152518	broad.mit.edu	37	4	47898565	47898565	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:47898565C>T	uc010igh.2	-	10	1481	c.1304G>A	c.(1303-1305)CGA>CAA	p.R435Q	NFXL1_uc003gxp.2_Missense_Mutation_p.R435Q|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.R435Q	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like	435	NF-X1-type 4.					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						ACAGGGACCTCGGTGACAACG	0.398												
FIP1L1	81608	broad.mit.edu	37	4	54324830	54324830	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:54324830C>T	uc003gzy.2	+	17	1696	c.1510C>T	c.(1510-1512)CGA>TGA	p.R504*	PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Nonsense_Mutation_p.R498*|FIP1L1_uc003gzz.2_Nonsense_Mutation_p.R430*|FIP1L1_uc003hab.2_Nonsense_Mutation_p.R469*|FIP1L1_uc003hac.2_Nonsense_Mutation_p.R258*|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Silent_p.N88N|FIP1L1_uc003hae.2_Silent_p.N91N	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	FIP1 like 1 isoform 1	504	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.|Glu-rich.				mRNA processing	nucleus	RNA binding			ovary(1)|skin(1)	2			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CGATGAAGAACGATACAGATA	0.388			T	PDGFRA	idiopathic hypereosinophilic syndrome							
EPHA5	2044	broad.mit.edu	37	4	66270181	66270181	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:66270181G>A	uc003hcy.2	-	8	1894	c.1701C>T	c.(1699-1701)AGC>AGT	p.S567S	EPHA5_uc003hcx.2_Silent_p.S499S|EPHA5_uc003hcz.2_Silent_p.S567S|EPHA5_uc011cah.1_Silent_p.S568S|EPHA5_uc011cai.1_Silent_p.S568S|EPHA5_uc003hda.2_Silent_p.S568S	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	567	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GGCTTTGATCGCTGGATGCTG	0.433										TSP Lung(17;0.13)		
ADAMTS3	9508	broad.mit.edu	37	4	73280581	73280581	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:73280581T>C	uc003hgk.1	-	4	649	c.612A>G	c.(610-612)TCA>TCG	p.S204S		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	204					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTCTACAGCTGATCTCTTGT	0.363												
NAAA	27163	broad.mit.edu	37	4	76842177	76842177	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:76842177G>A	uc003hjb.2	-	6	830	c.766C>T	c.(766-768)CGG>TGG	p.R256W	NAAA_uc003hja.2_Missense_Mutation_p.R256W|NAAA_uc003hjc.3_Missense_Mutation_p.R256W|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Missense_Mutation_p.R155W	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	256					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1						ACCCCCTCCCGGGGGGACGTG	0.512												
PAQR3	152559	broad.mit.edu	37	4	79856323	79856323	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:79856323C>T	uc003hlp.1	-	2	504	c.300G>A	c.(298-300)GCG>GCA	p.A100A	PAQR3_uc003hlm.2_RNA|PAQR3_uc003hln.2_Intron|PAQR3_uc003hlq.1_Intron	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	100	Lumenal (Potential).					Golgi membrane|integral to membrane	receptor activity				0						CTTCTCTGGACGCACTTGCTG	0.388												
SLC10A6	345274	broad.mit.edu	37	4	87746576	87746576	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:87746576C>T	uc003hqd.2	-	5	1064	c.916G>A	c.(916-918)GCA>ACA	p.A306T		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	sodium-dependent organic anion transporter	306	Helical; (Potential).					integral to membrane|plasma membrane	bile acid:sodium symporter activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CACCCACCTGCAACAATAAGA	0.458												
PPP3CA	5530	broad.mit.edu	37	4	101947137	101947137	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:101947137G>A	uc011cen.1	-	14	2126	c.1451C>T	c.(1450-1452)CCG>CTG	p.P484L	PPP3CA_uc003hvu.2_Missense_Mutation_p.P474L|PPP3CA_uc010ilj.2_Missense_Mutation_p.P432L|PPP3CA_uc003hvt.2_Missense_Mutation_p.P461L|PPP3CA_uc003hvs.2_Missense_Mutation_p.P417L|PPP3CA_uc010ilk.2_Missense_Mutation_p.P252L	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	484	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TCTGCGAGGCGGCATCCTCTC	0.473												
PPP3CA	5530	broad.mit.edu	37	4	101947156	101947156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:101947156G>A	uc011cen.1	-	14	2107	c.1432C>T	c.(1432-1434)CGA>TGA	p.R478*	PPP3CA_uc003hvu.2_Nonsense_Mutation_p.R468*|PPP3CA_uc010ilj.2_Nonsense_Mutation_p.R426*|PPP3CA_uc003hvt.2_Nonsense_Mutation_p.R455*|PPP3CA_uc003hvs.2_Nonsense_Mutation_p.R411*|PPP3CA_uc010ilk.2_Nonsense_Mutation_p.R246*	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	478	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TCATTAATTCGGTCTAAGCCC	0.453												
PAPSS1	9061	broad.mit.edu	37	4	108575885	108575885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:108575885C>T	uc003hyk.2	-	8	1151	c.1067G>A	c.(1066-1068)TGG>TAG	p.W356*	PAPSS1_uc011cfh.1_RNA	NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	356	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TGTCGTTCCCCACTGTCTGGC	0.478												
AGXT2L1	64850	broad.mit.edu	37	4	109674128	109674128	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:109674128C>A	uc003hzc.2	-	6	722	c.541G>T	c.(541-543)GAC>TAC	p.D181Y	AGXT2L1_uc010imc.2_Missense_Mutation_p.D175Y|AGXT2L1_uc011cfm.1_Missense_Mutation_p.D141Y|AGXT2L1_uc011cfn.1_Missense_Mutation_p.D108Y|AGXT2L1_uc011cfo.1_Missense_Mutation_p.D123Y	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	181					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TCTGCATGGTCTTCTCTATAT	0.363												
SEC24B	10427	broad.mit.edu	37	4	110433166	110433166	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:110433166G>A	uc003hzk.2	+	9	1885	c.1830G>A	c.(1828-1830)ACG>ACA	p.T610T	SEC24B_uc003hzl.2_Silent_p.T575T|SEC24B_uc011cfp.1_Silent_p.T640T|SEC24B_uc011cfq.1_Silent_p.T609T|SEC24B_uc011cfr.1_Silent_p.T574T	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	610	Zinc finger-like.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CCTGTCGAACGTATATTAACC	0.373												
KIAA1109	84162	broad.mit.edu	37	4	123274120	123274120	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:123274120C>T	uc003ieh.2	+	79	13956	c.13911C>T	c.(13909-13911)CAC>CAT	p.H4637H	KIAA1109_uc003iem.2_Silent_p.H993H	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4637					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CAGGATGCCACATATCCTTAT	0.413												
PCDH10	57575	broad.mit.edu	37	4	134073842	134073842	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:134073842G>A	uc003iha.2	+	1	3373	c.2547G>A	c.(2545-2547)GAG>GAA	p.E849E	PCDH10_uc003igz.2_Silent_p.E849E	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	849	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGACACTGAGCACAACCCCT	0.557												
FGA	2243	broad.mit.edu	37	4	155507102	155507102	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:155507102C>A	uc003iod.1	-	5	1537	c.1479G>T	c.(1477-1479)GAG>GAT	p.E493D	FGA_uc003ioe.1_Missense_Mutation_p.E493D|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	493	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)	AATCCATTGCCTCGGGACAGT	0.488												
GRIA2	2891	broad.mit.edu	37	4	158224833	158224833	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:158224833G>T	uc003ipm.3	+	3	818	c.359G>T	c.(358-360)GGC>GTC	p.G120V	GRIA2_uc011cit.1_Missense_Mutation_p.G73V|GRIA2_uc003ipl.3_Missense_Mutation_p.G120V|GRIA2_uc003ipk.3_Missense_Mutation_p.G73V|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	120	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CCAACAGATGGCACACATCCA	0.428												
C4orf46	201725	broad.mit.edu	37	4	159590811	159590811	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:159590811C>T	uc003iqa.2	-	2	545	c.296G>A	c.(295-297)CGG>CAG	p.R99Q	C4orf46_uc010iqp.1_RNA|ETFDH_uc010iqq.2_5'Flank|ETFDH_uc003iqb.2_5'Flank|ETFDH_uc011cjg.1_5'Flank|ETFDH_uc010iqr.2_5'Flank	NM_001008393	NP_001008394	Q504U0	CD046_HUMAN	hypothetical protein LOC201725	99										skin(1)	1						CAAGAGGTCCCGCCACGTTTT	0.383												
WDR17	116966	broad.mit.edu	37	4	177100674	177100674	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:177100674G>T	uc003iuj.2	+	31	4069	c.3913G>T	c.(3913-3915)GCA>TCA	p.A1305S	WDR17_uc003iuk.2_Missense_Mutation_p.A1281S|WDR17_uc003ium.3_Missense_Mutation_p.A1266S|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.A516S	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	1305										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTTGATGTGGGCAAAGGTGAA	0.393												
ODZ3	55714	broad.mit.edu	37	4	183721399	183721399	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:183721399G>A	uc003ivd.1	+	27	8032	c.7995G>A	c.(7993-7995)CAG>CAA	p.Q2665Q		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2665	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)		GCAAGGTGCAGGGCTACGACG	0.701												
ODZ3	55714	broad.mit.edu	37	4	183721417	183721417	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:183721417C>T	uc003ivd.1	+	27	8050	c.8013C>T	c.(8011-8013)TAC>TAT	p.Y2671Y		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2671	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)		ACGGGTACTACGTACTCTCGG	0.701												
FAT1	2195	broad.mit.edu	37	4	187517784	187517784	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:187517784C>T	uc003izf.2	-	25	13098	c.12910G>A	c.(12910-12912)GTG>ATG	p.V4304M	FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Missense_Mutation_p.V195M	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4304	Cytoplasmic (Potential).				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						TTTGGCGCCACGCTGCAGACC	0.557										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187541450	187541450	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:187541450C>T	uc003izf.2	-	10	6478	c.6290G>A	c.(6289-6291)GGC>GAC	p.G2097D		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2097	Extracellular (Potential).|Cadherin 19.				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						AATGACATGGCCCACCTCAGT	0.468										HNSCC(5;0.00058)		
AHRR	57491	broad.mit.edu	37	5	376803	376803	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:376803C>T	uc003jav.2	+	4	379	c.335C>T	c.(334-336)GCC>GTC	p.A112V	AHRR_uc003jaw.2_Missense_Mutation_p.A108V|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Missense_Mutation_p.A108V	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	112	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCAGGGTCTGCCGTGCTGGAG	0.617												
EXOC3	11336	broad.mit.edu	37	5	453975	453975	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:453975C>T	uc003jba.2	+	4	983	c.855C>T	c.(853-855)TAC>TAT	p.Y285Y		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	296					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAAGGAAGTACGTCCTGGATG	0.498												
ADCY2	108	broad.mit.edu	37	5	7789844	7789844	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:7789844C>T	uc003jdz.1	+	20	2626	c.2559C>T	c.(2557-2559)CGC>CGT	p.R853R	ADCY2_uc011cmo.1_Silent_p.R673R|ADCY2_uc010itm.1_Silent_p.R49R	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	853	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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						ACCTGAACCGCGTGCTGCTGG	0.532												
FBXL7	23194	broad.mit.edu	37	5	15616115	15616115	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:15616115T>C	uc003jfn.1	+	2	542	c.61T>C	c.(61-63)TCT>CCT	p.S21P		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	21					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						GAGCATCTCATCTGACGTGAG	0.493												
CDH9	1007	broad.mit.edu	37	5	26885832	26885832	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:26885832G>A	uc003jgs.1	-	11	1942	c.1773C>T	c.(1771-1773)TGC>TGT	p.C591C	CDH9_uc011cnv.1_Silent_p.C184C	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	591	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						CTTGATTATCGCAGGCACACA	0.483												
BRIX1	55299	broad.mit.edu	37	5	34925491	34925491	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:34925491T>C	uc003jja.2	+	10	977	c.953T>C	c.(952-954)ATA>ACA	p.I318T		NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	BRIX	318					ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding				0						CCAATAGAAATACAGTGGGTA	0.398												
C5orf42	65250	broad.mit.edu	37	5	37198876	37198876	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:37198876C>T	uc011cpa.1	-	20	3831	c.3600G>A	c.(3598-3600)GCG>GCA	p.A1200A	C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.A275A|C5orf42_uc011cpb.1_Silent_p.A81A	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	1200										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AACACTGAGCCGCCCGGAAAA	0.418												
OSMR	9180	broad.mit.edu	37	5	38885558	38885558	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:38885558C>A	uc003jln.1	+	6	1178	c.811C>A	c.(811-813)CCT>ACT	p.P271T	OSMR_uc003jlm.1_Missense_Mutation_p.P271T	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	271	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)					GTCTAAACAACCTTCCCAAAG	0.453												
C7	730	broad.mit.edu	37	5	40958136	40958136	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:40958136T>C	uc003jmh.2	+	11	1376	c.1262T>C	c.(1261-1263)CTG>CCG	p.L421P	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	421	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)				TCTCTATAGCTGACACCTTTA	0.363												
HEATR7B2	133558	broad.mit.edu	37	5	41065464	41065464	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:41065464C>T	uc003jmj.3	-	4	820	c.330G>A	c.(328-330)GTG>GTA	p.V110V		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	110							binding			ovary(6)|central_nervous_system(2)	8						CCAGGGCAAGCACAACGAATT	0.418												
ISL1	3670	broad.mit.edu	37	5	50685507	50685507	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:50685507C>T	uc003jor.2	+	4	1054	c.506C>T	c.(505-507)GCC>GTC	p.A169V		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	169					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)				AGGCAGCCAGCCCTGCGGCCC	0.577												
IPO11	51194	broad.mit.edu	37	5	61747671	61747671	+	Nonsense_Mutation	SNP	C	C	T	rs138490998		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:61747671C>T	uc003jtc.2	+	5	617	c.427C>T	c.(427-429)CGA>TGA	p.R143*	IPO11_uc011cqr.1_Nonsense_Mutation_p.R183*|IPO11_uc003jtb.1_Nonsense_Mutation_p.R143*	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	143	HEAT 1.					cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GGATGATCTTCGACAGCACAG	0.403												
HTR1A	3350	broad.mit.edu	37	5	63256560	63256560	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:63256560G>A	uc011cqt.1	-	1	987	c.987C>T	c.(985-987)GCC>GCT	p.A329A		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	329	Cytoplasmic (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)	GCTTCGCCTCGGCGTTGCGCT	0.607												
ERBB2IP	55914	broad.mit.edu	37	5	65371014	65371014	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:65371014C>T	uc003juk.1	+	23	4227	c.3919C>T	c.(3919-3921)CCC>TCC	p.P1307S	ERBB2IP_uc003jui.1_Missense_Mutation_p.P1266S|ERBB2IP_uc003juj.1_Intron|ERBB2IP_uc011cqx.1_Missense_Mutation_p.P1314S|ERBB2IP_uc011cqy.1_Missense_Mutation_p.P1266S|ERBB2IP_uc011cqz.1_Missense_Mutation_p.P505S|ERBB2IP_uc010iwx.1_Missense_Mutation_p.P1310S|ERBB2IP_uc003jul.1_Missense_Mutation_p.P1262S	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	1307					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ATATACACAGCCCCATTGTTC	0.423												
CCDC125	202243	broad.mit.edu	37	5	68590648	68590648	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:68590648C>T	uc003jvv.1	-	8	939	c.896G>A	c.(895-897)CGG>CAG	p.R299Q	CCDC125_uc003jvx.1_Missense_Mutation_p.R298Q|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Missense_Mutation_p.R174Q	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	299	Potential.					cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AAGCAGTTTCCGAGTGGATGC	0.443												
ZFYVE16	9765	broad.mit.edu	37	5	79732949	79732949	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:79732949T>A	uc003kgr.3	+	4	747	c.445T>A	c.(445-447)TTA>ATA	p.L149I	ZFYVE16_uc010jak.1_Missense_Mutation_p.L149I|ZFYVE16_uc003kgp.2_Missense_Mutation_p.L149I|ZFYVE16_uc003kgq.3_Missense_Mutation_p.L149I|ZFYVE16_uc003kgs.3_Missense_Mutation_p.L149I	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	149					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)		TATTAAAAAATTATTGCCAGA	0.358												
MBLAC2	153364	broad.mit.edu	37	5	89770030	89770030	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:89770030C>T	uc003kjp.2	-	1	556	c.80G>A	c.(79-81)GGC>GAC	p.G27D	POLR3G_uc003kjq.2_5'Flank|POLR3G_uc011cuc.1_5'Flank	NM_203406	NP_981951	Q68D91	MBLC2_HUMAN	beta-lactamase-like	27							hydrolase activity|metal ion binding				0						GGCACGGTTGCCCGACTCGTA	0.622												
TTC37	9652	broad.mit.edu	37	5	94876525	94876525	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:94876525T>A	uc003klb.2	-	8	682	c.412A>T	c.(412-414)ACA>TCA	p.T138S	TTC37_uc010jbf.1_Missense_Mutation_p.T90S	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	138							binding			ovary(3)|pancreas(1)	4						TTGTGCCATGTTCGAGCCACC	0.318												
APC	324	broad.mit.edu	37	5	112176017	112176017	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:112176017G>T	uc010jby.2	+	16	5106	c.4726G>T	c.(4726-4728)GAA>TAA	p.E1576*	APC_uc011cvt.1_Nonsense_Mutation_p.E1558*|APC_uc003kpz.3_Nonsense_Mutation_p.E1576*|APC_uc003kpy.3_Nonsense_Mutation_p.E1576*|APC_uc010jbz.2_Nonsense_Mutation_p.E1293*|APC_uc010jca.2_Nonsense_Mutation_p.E876*	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1576	Ser-rich.|Asp/Glu-rich (acidic).				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.E1576fs*74(1)|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)		TGAAATACTAGAAGAATGTAT	0.363		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)		
SRP19	6728	broad.mit.edu	37	5	112228760	112228760	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:112228760G>A	uc011cvv.1	+	4	1754	c.1499G>A	c.(1498-1500)AGT>AAT	p.S500N	SRP19_uc011cvu.1_Missense_Mutation_p.S485N|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		ACTGTTCAGAGTCCCCAATCC	0.368												
FBN2	2201	broad.mit.edu	37	5	127599209	127599209	+	Silent	SNP	C	C	T	rs138659121		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:127599209C>T	uc003kuu.2	-	63	8539	c.8100G>A	c.(8098-8100)TCG>TCA	p.S2700S		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2700	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCTTGGAGGACGAGCACTCAT	0.602												
SEC24A	10802	broad.mit.edu	37	5	134011749	134011749	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:134011749G>A	uc003kzs.2	+	7	1476	c.1188G>A	c.(1186-1188)ACG>ACA	p.T396T	SEC24A_uc011cxu.1_Silent_p.T160T	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	396					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCTCAGACGCAGGCCTTAT	0.328												
LOC153328	153328	broad.mit.edu	37	5	135207423	135207423	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:135207423G>A	uc003laz.1	+	5	867	c.695G>A	c.(694-696)AGC>AAC	p.S232N	LOC153328_uc003lba.2_Intron			Q6ZT89	S2548_HUMAN	RecName: Full=Putative mitochondrial carrier protein FLJ44862;	230	Solcar 3.|Helical; Name=5; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCAGCAGCAGCTGGAGCCGC	0.652												
TMCO6	55374	broad.mit.edu	37	5	140024273	140024273	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140024273T>C	uc003lgl.2	+	11	1417	c.1316T>C	c.(1315-1317)GTA>GCA	p.V439A	TMCO6_uc003lgm.2_Missense_Mutation_p.V445A|TMCO6_uc010jft.2_Missense_Mutation_p.V199A|TMCO6_uc003lgn.2_Missense_Mutation_p.V330A|TMCO6_uc003lgo.2_Missense_Mutation_p.V199A	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	439					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACTGAAGTAGTAGGCCAG	0.557												
HARS	3035	broad.mit.edu	37	5	140057274	140057274	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140057274C>T	uc003lgv.2	-	7	777	c.695G>A	c.(694-696)CGT>CAT	p.R232H	HARS_uc003lgu.2_Missense_Mutation_p.R163H|HARS_uc011czm.1_Missense_Mutation_p.R192H|HARS_uc003lgw.2_Missense_Mutation_p.R212H|HARS_uc011czn.1_Missense_Mutation_p.R172H|HARS_uc010jfu.2_Missense_Mutation_p.R232H|HARS_uc011czo.1_Missense_Mutation_p.R158H|HARS_uc011czp.1_Missense_Mutation_p.R118H|HARS_uc011czq.1_Missense_Mutation_p.R122H	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	232					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GCAGATGGTACGGAACTTGCT	0.478												
PCDHA2	56146	broad.mit.edu	37	5	140176173	140176173	+	Missense_Mutation	SNP	G	G	A	rs149176013		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140176173G>A	uc003lhd.2	+	1	1730	c.1624G>A	c.(1624-1626)GTG>ATG	p.V542M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.V542M|PCDHA2_uc011czy.1_Missense_Mutation_p.V542M	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	542	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGCGGGCGTGCCGCCTCT	0.687												
PCDHA8	56140	broad.mit.edu	37	5	140222368	140222368	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140222368G>A	uc003lhs.2	+	1	1462	c.1462G>A	c.(1462-1464)GCG>ACG	p.A488T	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.A488T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	488	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)			GCAGGAGAACGCGCTGGTGTC	0.657												
PCDHA9	9752	broad.mit.edu	37	5	140230333	140230333	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140230333G>A	uc003lhu.2	+	1	2977	c.2253G>A	c.(2251-2253)TCG>TCA	p.S751S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.S751S	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	751	Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCGTACTCGCAGCAGAGGA	0.647												
PCDHAC1	56135	broad.mit.edu	37	5	140307927	140307927	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140307927C>A	uc003lih.2	+	1	1626	c.1450C>A	c.(1450-1452)CTG>ATG	p.L484M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.L484M	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	484	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTTATGAGCTGTTGGATGT	0.532												
PCDHAC2	56134	broad.mit.edu	37	5	140346866	140346866	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140346866C>T	uc003lii.2	+	1	755	c.515C>T	c.(514-516)GCG>GTG	p.A172V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.A172V	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	172	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAGAGAGTGCGCAGGACCCC	0.597												
PCDHB4	56131	broad.mit.edu	37	5	140503476	140503476	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140503476C>T	uc003lip.1	+	1	1896	c.1896C>T	c.(1894-1896)CGC>CGT	p.R632R		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	632	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCAGCCA	0.682												
PCDHB7	56129	broad.mit.edu	37	5	140553997	140553997	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140553997C>T	uc003lit.2	+	1	1755	c.1581C>T	c.(1579-1581)TTC>TTT	p.F527F		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	527	Extracellular (Potential).|Cadherin 5.				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)			TGCAGGCGTTCGAGTTCCGCG	0.701												
PCDHB10	56126	broad.mit.edu	37	5	140572677	140572677	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140572677C>T	uc003lix.2	+	1	726	c.552C>T	c.(550-552)GGC>GGT	p.G184G		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	184	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)			ACATTAGTGGCGGTGATGAAG	0.478												
PCDHB11	56125	broad.mit.edu	37	5	140580935	140580935	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140580935C>T	uc003liy.2	+	1	1588	c.1588C>T	c.(1588-1590)CGC>TGC	p.R530C	PCDHB11_uc011daj.1_Missense_Mutation_p.R165C	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	530	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGACTTCCGCGTGGGCGC	0.672												
PCDHGA5	56110	broad.mit.edu	37	5	140744400	140744400	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140744400G>A	uc003lju.1	+	1	503	c.503G>A	c.(502-504)CGG>CAG	p.R168Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.R168Q	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	168	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCTCTCCGGAGTTACCAG	0.512												
PCDHGA12	26025	broad.mit.edu	37	5	140811605	140811605	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140811605C>T	uc003lkt.1	+	1	1448	c.1279C>T	c.(1279-1281)CGG>TGG	p.R427W	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.R427W	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	427	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCACTGACCGGGGAACCCC	0.502												
PCDHGC5	56097	broad.mit.edu	37	5	140890602	140890602	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140890602C>T	uc003lla.1	+	4	2697	c.2697C>T	c.(2695-2697)CAC>CAT	p.H899H	PCDHGA1_uc003lji.1_Silent_p.H886H|PCDHGA2_uc003ljk.1_Silent_p.H887H|PCDHGA3_uc003ljm.1_Silent_p.H887H|PCDHGA3_uc010jfx.1_Silent_p.H647H|PCDHGB1_uc003ljo.1_Silent_p.H882H|PCDHGA4_uc003ljq.1_Silent_p.H886H|PCDHGB2_uc003ljs.1_Silent_p.H886H|PCDHGA5_uc003lju.1_Silent_p.H886H|PCDHGB3_uc003ljw.1_Silent_p.H884H|PCDHGA6_uc003ljy.1_Silent_p.H887H|PCDHGA7_uc003lka.1_Silent_p.H887H|PCDHGB4_uc003lkc.1_Silent_p.H878H|PCDHGA8_uc003lkd.1_Silent_p.H887H|PCDHGB5_uc003lkf.1_Silent_p.H878H|PCDHGA9_uc003lkh.1_Silent_p.H887H|PCDHGB6_uc003lkj.1_Silent_p.H885H|PCDHGA10_uc003lkl.1_Silent_p.H891H|PCDHGB7_uc003lkn.1_Silent_p.H884H|PCDHGA11_uc003lkp.1_Silent_p.H705H|PCDHGA11_uc003lkq.1_Silent_p.H890H|PCDHGA12_uc003lkt.1_Silent_p.H887H|PCDHGC3_uc003lkv.1_Silent_p.H889H|PCDHGC3_uc003lkw.1_Silent_p.H89H|PCDHGC4_uc003lky.1_Silent_p.H893H	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	899	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGCAGCACGTGCCCGACT	0.642												
GNPDA1	10007	broad.mit.edu	37	5	141384531	141384531	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:141384531G>A	uc003lmf.3	-	4	1319	c.560C>T	c.(559-561)ACG>ATG	p.T187M	GNPDA1_uc003lmg.3_Missense_Mutation_p.T187M|GNPDA1_uc010jgh.2_Missense_Mutation_p.T187M|GNPDA1_uc003lmh.3_Missense_Mutation_p.T153M	NM_005471	NP_005462	P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	187					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity				0		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCCCACCGTCAAGGCCAT	0.552												
CSF1R	1436	broad.mit.edu	37	5	149449434	149449434	+	Splice_Site	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:149449434A>G	uc003lrl.2	-	9	1705	c.1510_splice	c.e9+1	p.G504_splice	CSF1R_uc011dcd.1_Splice_Site_p.G356_splice|CSF1R_uc010jhc.2_Splice_Site|CSF1R_uc003lrm.2_Splice_Site_p.G504_splice	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor						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)	gcTCCCTCTCACCTGCAGAGA	0.383												
TCOF1	6949	broad.mit.edu	37	5	149767629	149767629	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:149767629C>T	uc003lry.2	+	18	3132	c.3024C>T	c.(3022-3024)CCC>CCT	p.P1008P	TCOF1_uc011dch.1_Silent_p.P1008P|TCOF1_uc003lrz.2_Silent_p.P1008P|TCOF1_uc003lrx.2_Silent_p.P931P|TCOF1_uc003lsa.2_Silent_p.P931P|TCOF1_uc011dci.1_Silent_p.P437P	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1008					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGTGATCCCCGCTACACAGT	0.652												
NDST1	3340	broad.mit.edu	37	5	149901260	149901260	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:149901260C>T	uc003lsk.3	+	2	946	c.444C>T	c.(442-444)GAC>GAT	p.D148D	NDST1_uc011dcj.1_Silent_p.D148D|NDST1_uc003lsl.2_Silent_p.D148D	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	148	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAACCTGGACGCCTGGAACC	0.587												
TIMD4	91937	broad.mit.edu	37	5	156381647	156381647	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:156381647G>T	uc003lwh.2	-	2	236	c.179C>A	c.(178-180)CCC>CAC	p.P60H	TIMD4_uc010jii.2_Missense_Mutation_p.P60H	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	60	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCGGAGTAGGGGCACTGGTC	0.542												
UNC5A	90249	broad.mit.edu	37	5	176304559	176304559	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:176304559C>A	uc003mey.2	+	10	1682	c.1490C>A	c.(1489-1491)ACC>AAC	p.T497N		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	497	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTGTCAGACCCTGCTGAGT	0.637												
NSD1	64324	broad.mit.edu	37	5	176665443	176665443	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:176665443C>A	uc003mfr.3	+	7	4265	c.4127C>A	c.(4126-4128)CCT>CAT	p.P1376H	NSD1_uc003mft.3_Missense_Mutation_p.P1107H|NSD1_uc003mfs.1_Missense_Mutation_p.P1273H|NSD1_uc011dfx.1_Missense_Mutation_p.P1024H	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1376					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)		TTGTCTGTGCCTGTGGCTCCG	0.557			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
MGAT1	4245	broad.mit.edu	37	5	180219262	180219262	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:180219262C>T	uc003mmg.3	-	2	1205	c.710G>A	c.(709-711)TGC>TAC	p.C237Y	MGAT1_uc010jlf.2_Missense_Mutation_p.C237Y|MGAT1_uc010jlg.2_Missense_Mutation_p.C237Y|MGAT1_uc003mmh.3_Missense_Mutation_p.C237Y|MGAT1_uc010jlh.2_Missense_Mutation_p.C237Y|MGAT1_uc003mmi.3_Missense_Mutation_p.C237Y	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	237	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCGAGACGCACCACAGGGA	0.652												
SLC22A23	63027	broad.mit.edu	37	6	3273438	3273438	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:3273438G>A	uc003mvm.3	-	10	1912	c.1912C>T	c.(1912-1914)CGC>TGC	p.R638C	uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Missense_Mutation_p.R357C|SLC22A23_uc003mvo.3_Missense_Mutation_p.R357C|SLC22A23_uc003mvp.1_RNA	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	638					ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AGCGGCTGGCGCGTGTAGTGC	0.607												
RREB1	6239	broad.mit.edu	37	6	7229883	7229883	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:7229883G>A	uc003mxc.2	+	10	1941	c.1551G>A	c.(1549-1551)ACG>ACA	p.T517T	RREB1_uc003mxb.2_Silent_p.T517T|RREB1_uc010jnx.2_Silent_p.T517T	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	517	Pro-rich.				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)				CACCACGGACGGTGGTGGCCA	0.677												
ATXN1	6310	broad.mit.edu	37	6	16327740	16327740	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:16327740C>T	uc003nbt.2	-	8	1773	c.802G>A	c.(802-804)GTC>ATC	p.V268I	ATXN1_uc010jpi.2_Missense_Mutation_p.V268I|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	268					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)				TGGAGGTGGACGGGGATGGCC	0.672												
SLC17A2	10246	broad.mit.edu	37	6	25923979	25923979	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:25923979G>C	uc011dkb.1	-	2	267	c.184C>G	c.(184-186)CCT>GCT	p.P62A	SLC17A2_uc011dkc.1_Missense_Mutation_p.P62A|SLC17A2_uc003nfl.2_Missense_Mutation_p.P62A			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	62					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						TCTGCAACAGGCCCCTCAGTG	0.453												
HIST1H2AG	8969	broad.mit.edu	37	6	27100889	27100889	+	Silent	SNP	T	T	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:27100889T>A	uc003niw.2	+	1	73	c.39T>A	c.(37-39)GCT>GCA	p.A13A	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	13					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding				0						AAGCCCGCGCTAAGGCCAAGA	0.617												
ZKSCAN3	80317	broad.mit.edu	37	6	28333983	28333983	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:28333983G>A	uc003nle.3	+	6	1754	c.1538G>A	c.(1537-1539)TGT>TAT	p.C513Y	ZKSCAN3_uc010jrc.2_Missense_Mutation_p.C513Y|ZKSCAN3_uc003nlf.3_Missense_Mutation_p.C365Y|uc010jrd.2_5'Flank	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	513	C2H2-type 7.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						TGTAATGCGTGTGGAAAAGGC	0.413												
OR2J3	442186	broad.mit.edu	37	6	29080437	29080437	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:29080437C>T	uc011dll.1	+	1	770	c.770C>T	c.(769-771)CCG>CTG	p.P257L		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTTTTCATTCCGGCCATGTGC	0.453												
TRIM39	56658	broad.mit.edu	37	6	30308096	30308096	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:30308096G>A	uc010jrz.2	+	7	1163	c.851G>A	c.(850-852)CGG>CAG	p.R284Q	TRIM39_uc003npz.2_Intron|TRIM39_uc003nqb.2_Intron|TRIM39_uc003nqc.2_Intron|TRIM39_uc010jsa.1_Intron	NM_021253	NP_067076	Q9HCM9	TRI39_HUMAN	tripartite motif-containing 39 isoform 1	284					apoptosis	cytosol|mitochondrion	identical protein binding|zinc ion binding			ovary(3)	3						ATCTGTCCACGGGATCATAAG	0.453												
KIAA1949	170954	broad.mit.edu	37	6	30653307	30653307	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:30653307G>A	uc003nra.2	-	2	720	c.489C>T	c.(487-489)AGC>AGT	p.S163S	KIAA1949_uc003nrb.3_Silent_p.S163S	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	163						cytoplasm|cytoskeleton	actin binding				0						GAGGCCTCAGGCTCAACTCTT	0.607												
MUC21	394263	broad.mit.edu	37	6	30955053	30955053	+	Silent	SNP	G	G	A	rs9262386		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:30955053G>A	uc003nsh.2	+	2	1352	c.1101G>A	c.(1099-1101)ACG>ACA	p.T367T	MUC21_uc003nsi.1_RNA	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	367	23.|Ser-rich.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|skin(1)	2						GGTCCAGCACGACCTCCAGTG	0.637												
NEU1	4758	broad.mit.edu	37	6	31829888	31829888	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:31829888C>T	uc003nxq.3	-	2	396	c.240G>A	c.(238-240)CCG>CCA	p.P80P	NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Intron|NEU1_uc003nxs.3_Silent_p.P80P	NM_000434	NP_000425	Q99519	NEUR1_HUMAN	neuraminidase precursor	80	FRIP motif.		P -> L (in SIALIDOSIS; type 2; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes).			cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			ovary(1)	1					Oseltamivir(DB00198)|Zanamivir(DB00558)	CTGTGATGAGCGGGATGCGGA	0.622												
RNF5	6048	broad.mit.edu	37	6	32146318	32146318	+	Silent	SNP	C	C	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:32146318C>G	uc003oaj.3	+	1	157	c.30C>G	c.(28-30)GGC>GGG	p.G10G	AGPAT1_uc003oae.2_5'Flank|AGPAT1_uc011dpk.1_5'Flank|AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank|AGPAT1_uc003oai.1_5'Flank|AGPAT1_uc011dpl.1_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	ring finger protein 5	10					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						AGGACGGGGGCCCCGAAGGGC	0.617												
PSMB8	5696	broad.mit.edu	37	6	32810002	32810002	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:32810002G>A	uc003oce.2	-	4	489	c.446C>T	c.(445-447)TCG>TTG	p.S149L	PSMB8_uc003ocf.2_Missense_Mutation_p.S145L|PSMB8_uc011dqh.1_3'UTR	NM_148919	NP_683720	P28062	PSB8_HUMAN	proteasome beta 8 subunit isoform E2 proprotein	149					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			skin(1)	1						GGAGGCTGCCGACACTGAAAT	0.537												
COL11A2	1302	broad.mit.edu	37	6	33146860	33146860	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:33146860G>A	uc003ocx.1	-	16	1829	c.1601C>T	c.(1600-1602)GCT>GTT	p.A534V	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.A448V|COL11A2_uc003ocz.1_Missense_Mutation_p.A427V	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	534	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			ovary(3)|skin(2)	5						CCTTCGCCCAGCCTTGCCAGG	0.657												
DAXX	1616	broad.mit.edu	37	6	33287513	33287513	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:33287513C>T	uc003oec.2	-	6	1788	c.1584G>A	c.(1582-1584)GTG>GTA	p.V528V	ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.V453V|DAXX_uc011dre.1_Silent_p.V540V|DAXX_uc003oed.2_Silent_p.V528V	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	528	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						ACGATGGTGACACTATGCGTC	0.522			Mis|F|N		Pancreatic neuroendocrine tumors							
DAXX	1616	broad.mit.edu	37	6	33289522	33289522	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:33289522G>A	uc003oec.2	-	2	385	c.181C>T	c.(181-183)CTG>TTG	p.L61L	DAXX_uc011drd.1_Intron|DAXX_uc011dre.1_Silent_p.L73L|DAXX_uc003oed.2_Silent_p.L61L|DAXX_uc010juw.2_5'UTR	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN	death-domain associated protein isoform a	61	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						TCATTCTCCAGCTTGTAGCAT	0.527			Mis|F|N		Pancreatic neuroendocrine tumors							
ZNF76	7629	broad.mit.edu	37	6	35254165	35254165	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:35254165G>A	uc003oki.1	+	4	426	c.221G>A	c.(220-222)CGC>CAC	p.R74H	ZNF76_uc011dsy.1_Missense_Mutation_p.R74H|ZNF76_uc011dsz.1_Missense_Mutation_p.R74H|ZNF76_uc003okj.1_Missense_Mutation_p.R74H|ZNF76_uc011dsx.1_Missense_Mutation_p.R74H	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	74	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACATACACCGCACACCCAGA	0.572												
CPNE5	57699	broad.mit.edu	37	6	36710055	36710055	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:36710055G>A	uc003omr.1	-	21	1839	c.1772C>T	c.(1771-1773)ACG>ATG	p.T591M	CPNE5_uc003omp.1_Missense_Mutation_p.T299M|CPNE5_uc010jwn.1_Missense_Mutation_p.T241M|CPNE5_uc003omq.1_Missense_Mutation_p.T241M	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	591										skin(1)	1						TCAGATGTGCGTGTGCAGGGG	0.706												
C6orf130	221443	broad.mit.edu	37	6	41038939	41038939	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:41038939C>T	uc003opm.2	-	3	288	c.116G>A	c.(115-117)CGC>CAC	p.R39H	UNC5CL_uc010jxe.1_5'UTR|C6orf130_uc010jxg.2_Missense_Mutation_p.R39H|C6orf130_uc003opn.2_Missense_Mutation_p.R39H|C6orf130_uc010jxh.1_Missense_Mutation_p.R39H|NFYA_uc003opo.2_5'Flank|NFYA_uc003opp.2_5'Flank|NFYA_uc003opq.2_5'Flank	NM_145063	NP_659500	Q9Y530	CF130_HUMAN	hypothetical protein LOC221443	39	Macro.										0	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCGCCCATGCGACAATCCTC	0.428												
MRPL2	51069	broad.mit.edu	37	6	43023356	43023356	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:43023356C>A	uc003ots.1	-	6	755	c.632G>T	c.(631-633)GGG>GTG	p.G211V	CUL7_uc011dvb.1_5'Flank|CUL7_uc003otq.2_5'Flank|CUL7_uc010jyh.2_5'Flank|KLC4_uc003otr.1_Intron	NM_015950	NP_057034	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2 precursor	211					translation	mitochondrion|ribosome	structural constituent of ribosome				0		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		ACCACACGTCCCTGGGGAAAG	0.557												
TTBK1	84630	broad.mit.edu	37	6	43251421	43251421	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:43251421C>T	uc003ouq.1	+	14	3222	c.2943C>T	c.(2941-2943)AAC>AAT	p.N981N		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	981						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)			CCCTGGAGAACGGCCTCGCCC	0.687												
ZNF318	24149	broad.mit.edu	37	6	43309880	43309880	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:43309880G>A	uc003oux.2	-	8	3424	c.3346C>T	c.(3346-3348)CGC>TGC	p.R1116C	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1116					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)			TTGTCAGTGCGCTTTATGGCA	0.463												
ABCC10	89845	broad.mit.edu	37	6	43415470	43415470	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:43415470G>A	uc003ouy.1	+	18	3969	c.3754G>A	c.(3754-3756)GTG>ATG	p.V1252M	ABCC10_uc003ouz.1_Missense_Mutation_p.V1224M|ABCC10_uc010jyo.1_Missense_Mutation_p.V358M	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1252	ABC transporter 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)			CCAGGACGTGGTGTTGGCGTA	0.667												
XPO5	57510	broad.mit.edu	37	6	43516071	43516071	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:43516071C>T	uc003ovp.2	-	18	2198	c.1987G>A	c.(1987-1989)GAG>AAG	p.E663K		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	663					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TTCTGACGCTCGTAGTTCTTA	0.502												
TMEM63B	55362	broad.mit.edu	37	6	44114623	44114623	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:44114623G>A	uc003owr.2	+	11	886	c.822G>A	c.(820-822)CCG>CCA	p.P274P	TMEM63B_uc003owq.1_Silent_p.P274P|TMEM63B_uc003ows.2_Silent_p.P177P|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	274						integral to membrane	nucleotide binding|protein binding	p.P274P(1)		pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AAGCCCGCCCGTGTTACAACG	0.582												
MCM3	4172	broad.mit.edu	37	6	52132745	52132745	+	Missense_Mutation	SNP	G	G	A	rs143308289	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:52132745G>A	uc003pan.1	-	14	2100	c.1990C>T	c.(1990-1992)CGT>TGT	p.R664C	MCM3_uc011dwu.1_Missense_Mutation_p.R618C	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	664					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)					cgcttcttacgtttcttctcc	0.274												
TRAM2	9697	broad.mit.edu	37	6	52369431	52369431	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:52369431C>A	uc003paq.2	-	10	1146	c.997G>T	c.(997-999)GCC>TCC	p.A333S	EFHC1_uc011dwv.1_Intron	NM_012288	NP_036420	Q15035	TRAM2_HUMAN	translocation-associated membrane protein 2	333					collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding				0	Lung NSC(77;0.109)					CTGGGTGTGGCTGGGACTCTC	0.622												
FILIP1	27145	broad.mit.edu	37	6	76124559	76124559	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:76124559T>C	uc003pia.2	-	2	503	c.130A>G	c.(130-132)AGG>GGG	p.R44G	FILIP1_uc003phy.1_Missense_Mutation_p.R44G|FILIP1_uc010kbe.2_Missense_Mutation_p.R47G	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	44										skin(3)|ovary(1)	4						TCCTCCTTCCTATTTGATTTC	0.428												
ZNF292	23036	broad.mit.edu	37	6	87966657	87966657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:87966657G>T	uc003plm.3	+	8	3351	c.3310G>T	c.(3310-3312)GGA>TGA	p.G1104*		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1104	C2H2-type 7.				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)		CCAGGTCGAGGGATGTACTCG	0.438												
CNR1	1268	broad.mit.edu	37	6	88854062	88854062	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:88854062C>T	uc011dzq.1	-	2	4495	c.932G>A	c.(931-933)CGT>CAT	p.R311H	CNR1_uc010kbz.2_Missense_Mutation_p.R311H|CNR1_uc011dzr.1_Missense_Mutation_p.R311H|CNR1_uc011dzs.1_Missense_Mutation_p.R311H|CNR1_uc003pmq.3_Missense_Mutation_p.R311H|CNR1_uc011dzt.1_Missense_Mutation_p.R311H|CNR1_uc010kca.2_Missense_Mutation_p.R278H	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	311	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)	CTGGGTGCCACGCTGAATCAT	0.552												
ANKRD6	22881	broad.mit.edu	37	6	90337306	90337306	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:90337306G>A	uc003pni.3	+	14	1717	c.1376G>A	c.(1375-1377)CGT>CAT	p.R459H	ANKRD6_uc003pne.3_Missense_Mutation_p.R459H|ANKRD6_uc003pnf.3_Missense_Mutation_p.R424H|ANKRD6_uc011dzy.1_Missense_Mutation_p.R459H|ANKRD6_uc010kcd.2_Missense_Mutation_p.R400H|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_Missense_Mutation_p.R55H|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_Missense_Mutation_p.R55H	NM_014942	NP_055757	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	459							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)		TCCTAGATGCGTGTTTTGGAC	0.557												
POU3F2	5454	broad.mit.edu	37	6	99282792	99282792	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:99282792A>G	uc003ppe.2	+	1	213	c.43A>G	c.(43-45)AGC>GGC	p.S15G		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	15					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCTCACCTCCAGCGCCTCCAT	0.677												
ASCC3	10973	broad.mit.edu	37	6	101166009	101166009	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:101166009C>T	uc003pqk.2	-	12	2350	c.2021G>A	c.(2020-2022)GGC>GAC	p.G674D	ASCC3_uc011eai.1_Missense_Mutation_p.G576D|ASCC3_uc003pql.2_Missense_Mutation_p.G674D	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	674					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)		TCGAAAACGGCCATCAAAGAA	0.343												
AIM1	202	broad.mit.edu	37	6	106968176	106968176	+	Silent	SNP	G	G	A	rs150468985	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:106968176G>A	uc003prh.2	+	2	2356	c.1869G>A	c.(1867-1869)CCG>CCA	p.P623P		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	623							sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAGTCATACCGCCAGCATCAG	0.547												
CDC40	51362	broad.mit.edu	37	6	110540978	110540978	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:110540978C>T	uc003pua.2	+	12	1270	c.1246C>T	c.(1246-1248)CGG>TGG	p.R416W		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	416	WD 4.				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)		GGAATATGATCGGCATTTGGG	0.403												
REV3L	5980	broad.mit.edu	37	6	111643876	111643876	+	Silent	SNP	G	G	A	rs145957765		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:111643876G>A	uc003puy.3	-	26	8570	c.8247C>T	c.(8245-8247)GGC>GGT	p.G2749G	REV3L_uc003pux.3_Silent_p.G2671G|REV3L_uc003puz.3_Silent_p.G2671G|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2749					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CAATACTATCGCCAACCTGTT	0.353								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
NT5DC1	221294	broad.mit.edu	37	6	116559395	116559395	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:116559395C>T	uc003pwj.2	+	10	1062	c.967C>T	c.(967-969)CGT>TGT	p.R323C	NT5DC1_uc003pwk.2_Missense_Mutation_p.R315C|NT5DC1_uc003pwl.2_Missense_Mutation_p.R273C	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase, cytosolic II-like 1 protein	323							hydrolase activity|metal ion binding				0		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)		TTTCCCAGCTCGTCACTATAG	0.463												
DCBLD1	285761	broad.mit.edu	37	6	117842739	117842739	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:117842739G>A	uc003pxs.2	+	4	637	c.512G>A	c.(511-513)AGC>AAC	p.S171N	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Missense_Mutation_p.S171N	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	171	LCCL.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		ACAGAATACAGGTAAGTATAG	0.308												
C6orf174	387104	broad.mit.edu	37	6	127797067	127797067	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:127797067G>A	uc003qbd.2	-	6	2969	c.2104C>T	c.(2104-2106)CAG>TAG	p.Q702*	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	702	Potential.					integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		AGCTCCTCCTGCAGGGCCTCG	0.627												
VNN1	8876	broad.mit.edu	37	6	133014300	133014300	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:133014300T>G	uc003qdo.2	-	4	709	c.689A>C	c.(688-690)GAC>GCC	p.D230A		NM_004666	NP_004657	O95497	VNN1_HUMAN	vanin 1 precursor	230	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			ovary(3)	3	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TACTATGGTGTCCACGTGGAA	0.428												
IL20RA	53832	broad.mit.edu	37	6	137323341	137323341	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:137323341A>C	uc003qhj.2	-	7	1449	c.1016T>G	c.(1015-1017)CTT>CGT	p.L339R	IL20RA_uc011edl.1_Missense_Mutation_p.L290R|IL20RA_uc003qhk.2_Missense_Mutation_p.L228R|IL20RA_uc003qhi.2_Missense_Mutation_p.L71R	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	339	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AGGATCATTAAGGCTGGATAC	0.423												
KIAA1244	57221	broad.mit.edu	37	6	138531151	138531151	+	Silent	SNP	C	C	T	rs115941727	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:138531151C>T	uc003qhu.2	+	4	324	c.324C>T	c.(322-324)AAC>AAT	p.N108N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	108					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)		CTTCGCTCAACGAGGACCTGC	0.502												
KIAA1244	57221	broad.mit.edu	37	6	138656009	138656009	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:138656009C>T	uc003qhu.2	+	33	6026	c.6026C>T	c.(6025-6027)GCG>GTG	p.A2009V		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	2009					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)		TGGGAGAATGCGGGGAACAAA	0.567												
HIVEP2	3097	broad.mit.edu	37	6	143093766	143093766	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:143093766C>A	uc003qjd.2	-	5	2853	c.2110G>T	c.(2110-2112)GGG>TGG	p.G704W		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	704					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)		TCTTCATCCCCTACGCTCTTC	0.512												
UTRN	7402	broad.mit.edu	37	6	144999592	144999592	+	Silent	SNP	C	C	T	rs150099766	by1000genomes	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:144999592C>T	uc003qkt.2	+	51	7622	c.7530C>T	c.(7528-7530)GAC>GAT	p.D2510D		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	2510	Spectrin 17.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAAGCATTGACGGAAACAGGC	0.368												
FBXO30	84085	broad.mit.edu	37	6	146126844	146126844	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:146126844A>G	uc003qla.2	-	2	897	c.698T>C	c.(697-699)TTG>TCG	p.L233S	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	233							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)		TTGGTCTTTCAAGTTTTGATC	0.393												
ZC3H12D	340152	broad.mit.edu	37	6	149773838	149773838	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:149773838G>T	uc010kid.2	-	5	853	c.701C>A	c.(700-702)CCC>CAC	p.P234H	PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Missense_Mutation_p.P234H			A2A288	ZC12D_HUMAN	SubName: Full=Tumor suppressor P58TFL;	234						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding				0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GCGGCCCAGGGGGTCATCAGG	0.602												
C6orf97	80129	broad.mit.edu	37	6	151907196	151907196	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:151907196G>A	uc003qol.2	+	7	1354	c.1265G>A	c.(1264-1266)CGA>CAA	p.R422Q		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	422											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		GGTGTTTTGCGAGACAACTTG	0.448												
SYNE1	23345	broad.mit.edu	37	6	152675951	152675951	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:152675951C>T	uc010kiw.2	-	67	11371	c.10769G>A	c.(10768-10770)CGA>CAA	p.R3590Q	SYNE1_uc003qot.3_Missense_Mutation_p.R3597Q|SYNE1_uc003qou.3_Missense_Mutation_p.R3590Q|SYNE1_uc010kja.1_Missense_Mutation_p.R295Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3590	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)		GAACTGAGTTCGAGTCTCGGA	0.502										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152823876	152823876	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:152823876G>A	uc010kiw.2	-	10	1382	c.780C>T	c.(778-780)GAC>GAT	p.D260D	SYNE1_uc003qot.3_Silent_p.D267D|SYNE1_uc003qou.3_Silent_p.D260D|SYNE1_uc010kjb.1_Silent_p.D260D|SYNE1_uc003qpa.1_Silent_p.D260D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	260	Actin-binding.|CH 2.|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)		CCACATCAACGTCTGAAAAAA	0.348										HNSCC(10;0.0054)		
RGS17	26575	broad.mit.edu	37	6	153347617	153347617	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:153347617T>G	uc003qpm.2	-	3	337	c.181A>C	c.(181-183)ATG>CTG	p.M61L		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	regulator of G-protein signalling 17	61					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			pancreas(1)	1		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		ATACTCTCCATTTTTGTAGTG	0.413									Lung_Cancer_Familial_Clustering_of			
RGS17	26575	broad.mit.edu	37	6	153347627	153347627	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:153347627G>A	uc003qpm.2	-	3	327	c.171C>T	c.(169-171)CAC>CAT	p.H57H		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	regulator of G-protein signalling 17	57					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			pancreas(1)	1		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TTTTTGTAGTGTGTGTGGGTC	0.403									Lung_Cancer_Familial_Clustering_of			
TULP4	56995	broad.mit.edu	37	6	158924920	158924920	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:158924920G>A	uc003qrf.2	+	13	5582	c.4225G>A	c.(4225-4227)GAG>AAG	p.E1409K	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1409					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)		CTCCGAGAGCGAGCCTGAGCT	0.552												
PDE10A	10846	broad.mit.edu	37	6	165792789	165792789	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:165792789G>A	uc003qun.2	-	19	2090	c.1849C>T	c.(1849-1851)CGC>TGC	p.R617C	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.R547C|PDE10A_uc003quo.2_Missense_Mutation_p.R627C	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	617					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)	ATGGCTTTGCGGATGATCTCA	0.413												
UNCX	340260	broad.mit.edu	37	7	1275732	1275732	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:1275732G>A	uc011jvw.1	+	3	715	c.715G>A	c.(715-717)GGC>AGC	p.G239S		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	UNC homeobox	239					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CGACAGCGGCGGCGGCGGCCT	0.428												
SNX8	29886	broad.mit.edu	37	7	2296638	2296638	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:2296638C>T	uc003slw.2	-	10	1198	c.1155G>A	c.(1153-1155)ACG>ACA	p.T385T		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	385					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GCAGCTCCATCGTCTGAATCG	0.652												
TTYH3	80727	broad.mit.edu	37	7	2687658	2687658	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:2687658T>G	uc003smp.2	+	5	879	c.692T>G	c.(691-693)CTC>CGC	p.L231R	TTYH3_uc010ksn.2_Intron|TTYH3_uc003smq.2_Missense_Mutation_p.L60R	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	231	Helical; Name=3; (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTGGTTGGCCTCATCCGCAGC	0.677												
TNRC18	84629	broad.mit.edu	37	7	5417124	5417124	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:5417124G>A	uc003soi.3	-	7	2688	c.2339C>T	c.(2338-2340)ACG>ATG	p.T780M		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	780							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGGCCCCCCGTCACCATGAG	0.677												
FSCN1	6624	broad.mit.edu	37	7	5632672	5632672	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:5632672G>A	uc003sou.2	+	1	219	c.105G>A	c.(103-105)GCG>GCA	p.A35A		NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	35					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			ovary(1)	1		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		AGGTGAACGCGTCCGCCAGCA	0.677												
C7orf70	84792	broad.mit.edu	37	7	6370791	6370791	+	Translation_Start_Site	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:6370791G>A	uc003spu.2	-	2	463	c.-5C>T	c.(-7--3)CACGA>CATGA			NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN	hypothetical protein LOC84792							nucleus					0						CTCATGCTTCGTGTTCTTGGA	0.542												
SP8	221833	broad.mit.edu	37	7	20824574	20824574	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:20824574G>A	uc003suy.2	-	3	1049	c.808C>T	c.(808-810)CAC>TAC	p.H270Y	SP8_uc003suz.2_Missense_Mutation_p.H288Y	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						CTGAGCAGGTGCGAGGAGGCG	0.721												
DNAH11	8701	broad.mit.edu	37	7	21631029	21631029	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:21631029T>C	uc003svc.2	+	14	2532	c.2501T>C	c.(2500-2502)GTG>GCG	p.V834A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	834	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						CAGAAAAACGTGAAGGTGATC	0.602									Kartagener_syndrome			
CHN2	1124	broad.mit.edu	37	7	29552339	29552339	+	Silent	SNP	C	C	T	rs143270987		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:29552339C>T	uc003szz.2	+	13	1832	c.1395C>T	c.(1393-1395)GAC>GAT	p.D465D	CHN2_uc011jzs.1_Silent_p.D540D|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Silent_p.D430D|CHN2_uc011jzt.1_Silent_p.D478D|CHN2_uc010kvd.2_Silent_p.D321D|CHN2_uc011jzu.1_Silent_p.D450D|CHN2_uc010kvg.2_Silent_p.D283D|CHN2_uc010kvh.2_Silent_p.D225D|CHN2_uc010kvi.2_Silent_p.D257D|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Silent_p.D329D|CHN2_uc010kvf.2_Silent_p.D271D|CHN2_uc010kvj.2_Silent_p.D238D|CHN2_uc010kvk.2_Silent_p.D140D|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Silent_p.D284D|CHN2_uc011jzv.1_Silent_p.D258D	NM_004067	NP_004058	P52757	CHIO_HUMAN	beta chimerin isoform 2	465	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)	2						AAAACGAAGACGTTTTATTCT	0.453												
BBS9	27241	broad.mit.edu	37	7	33573588	33573588	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:33573588C>T	uc003tdn.1	+	21	2834	c.2321C>T	c.(2320-2322)GCC>GTC	p.A774V	BBS9_uc003tdo.1_Missense_Mutation_p.A739V|BBS9_uc003tdp.1_Missense_Mutation_p.A769V|BBS9_uc003tdq.1_Missense_Mutation_p.A734V|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.A298V|BBS9_uc003tds.1_Missense_Mutation_p.A197V|BBS9_uc003tdt.2_RNA	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	774					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			GBM - Glioblastoma multiforme(11;0.0894)			ACGGTGGATGCCGCCATTTCC	0.433									Bardet-Biedl_syndrome			
AOAH	313	broad.mit.edu	37	7	36677463	36677463	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:36677463C>T	uc003tfh.3	-	5	845	c.444G>A	c.(442-444)CCG>CCA	p.P148P	AOAH_uc010kxf.2_Silent_p.P148P|AOAH_uc011kba.1_Silent_p.P116P	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	148					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1						TTACCAGAATCGGGGACTTCT	0.438												
C7orf36	57002	broad.mit.edu	37	7	39606049	39606049	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:39606049A>G	uc003thc.3	+	1	41	c.32A>G	c.(31-33)CAG>CGG	p.Q11R		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	hypothetical protein LOC57002	11											0						TCCTTGATCCAGGGCCCTGGA	0.597												
URGCP	55665	broad.mit.edu	37	7	43916273	43916273	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:43916273C>T	uc003tiw.2	-	6	2846	c.2789G>A	c.(2788-2790)CGG>CAG	p.R930Q	URGCP_uc003tiu.2_Missense_Mutation_p.R887Q|URGCP_uc003tiv.2_Missense_Mutation_p.R855Q|URGCP_uc003tix.2_Missense_Mutation_p.R921Q|URGCP_uc003tiy.2_Missense_Mutation_p.R887Q|URGCP_uc003tiz.2_Missense_Mutation_p.R887Q|URGCP_uc011kbj.1_Missense_Mutation_p.R887Q	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	930					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						CACTCACAGCCGTCTCACCAG	0.537												
DBNL	28988	broad.mit.edu	37	7	44096385	44096385	+	Silent	SNP	C	C	T	rs140718490	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:44096385C>T	uc003tjp.3	+	5	455	c.357C>T	c.(355-357)GCC>GCT	p.A119A	DBNL_uc003tjn.2_5'UTR|DBNL_uc003tjo.3_Silent_p.A119A|DBNL_uc003tjr.3_5'UTR|DBNL_uc003tjq.3_Silent_p.A119A|DBNL_uc011kbm.1_Silent_p.A94A|DBNL_uc011kbn.1_Silent_p.A16A|DBNL_uc011kbo.1_Silent_p.A19A|DBNL_uc011kbp.1_Intron|DBNL_uc011kbq.1_Silent_p.A44A|DBNL_uc011kbr.1_Silent_p.A67A|DBNL_uc011kbs.1_Silent_p.A16A	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	119	ADF-H.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1						ACGCACGGGCCGAGGAGGATG	0.592												
NPC1L1	29881	broad.mit.edu	37	7	44578698	44578698	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:44578698C>T	uc003tlb.2	-	2	1354	c.1298G>A	c.(1297-1299)AGC>AAC	p.S433N	NPC1L1_uc003tlc.2_Missense_Mutation_p.S433N|NPC1L1_uc011kbw.1_Missense_Mutation_p.S433N|NPC1L1_uc003tld.2_Missense_Mutation_p.S433N	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	433	Extracellular (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	CAGGATTCCGCTGAAGTTCTT	0.602												
PKD1L1	168507	broad.mit.edu	37	7	47930278	47930278	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:47930278G>A	uc003tny.1	-	16	2537	c.2537C>T	c.(2536-2538)GCT>GTT	p.A846V		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	846	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AACAGTGGGAGCCGCGGCATC	0.572												
LANCL2	55915	broad.mit.edu	37	7	55467769	55467769	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:55467769G>A	uc003tqp.2	+	4	1228	c.650G>A	c.(649-651)GGC>GAC	p.G217D		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	217					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			ATAGGTCCAGGCACCGTGTGT	0.458												
ZNF107	51427	broad.mit.edu	37	7	64168414	64168414	+	Missense_Mutation	SNP	A	A	G	rs59947864		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:64168414A>G	uc003ttd.2	+	7	2518	c.1732A>G	c.(1732-1734)AAC>GAC	p.N578D	ZNF107_uc003tte.2_Missense_Mutation_p.N578D	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TACTGGAGAGAACCTCTACAA	0.338												
GUSB	2990	broad.mit.edu	37	7	65444731	65444731	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:65444731G>T	uc003tun.2	-	3	640	c.564C>A	c.(562-564)TAC>TAA	p.Y188*	GUSB_uc011kdt.1_Intron|GUSB_uc010kzw.1_Intron	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	188					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						TGTCAGTCAGGTATTGGATGG	0.627												
TYW1	55253	broad.mit.edu	37	7	66482881	66482881	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:66482881G>A	uc003tvn.2	+	6	761	c.612G>A	c.(610-612)GCG>GCA	p.A204A	TYW1_uc010lai.2_RNA	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	204	FMN (By similarity).|Flavodoxin-like.				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)				TGCTTGGCGCGCATCGTGTGA	0.507												
STX1A	6804	broad.mit.edu	37	7	73118501	73118501	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:73118501C>G	uc003tyx.2	-	6	470	c.443G>C	c.(442-444)CGC>CCC	p.R148P	WBSCR22_uc003tyw.1_3'UTR|STX1A_uc003tyy.2_Missense_Mutation_p.R148P|STX1A_uc010lbj.1_Missense_Mutation_p.R148P	NM_004603	NP_004594	Q16623	STX1A_HUMAN	syntaxin 1A isoform 1	148	Cytoplasmic (Potential).				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTCTGGATGCGGCCTTTGCA	0.677												
ELN	2006	broad.mit.edu	37	7	73470665	73470665	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:73470665C>T	uc003tzw.2	+	20	1306	c.1215C>T	c.(1213-1215)CCC>CCT	p.P405P	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Silent_p.P374P|ELN_uc003tzn.2_Silent_p.P405P|ELN_uc003tzz.2_Silent_p.P369P|ELN_uc003tzo.2_Silent_p.P391P|ELN_uc003tzp.2_Silent_p.P361P|ELN_uc003tzq.2_Silent_p.P288P|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Silent_p.P405P|ELN_uc003tzt.2_Silent_p.P410P|ELN_uc003tzu.2_Silent_p.P410P|ELN_uc003tzv.2_Silent_p.P395P|ELN_uc003tzx.2_Silent_p.P395P|ELN_uc011kff.1_Silent_p.P405P|ELN_uc003tzy.2_Silent_p.P400P	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	405	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGGGCTTTCCCGGCTTTGGTG	0.627			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome					
STYXL1	51657	broad.mit.edu	37	7	75651250	75651250	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:75651250C>G	uc003uej.3	-	4	399	c.226G>C	c.(226-228)GTG>CTG	p.V76L	STYXL1_uc011kgf.1_5'UTR|STYXL1_uc011kgg.1_5'UTR|STYXL1_uc003ueh.2_5'UTR|STYXL1_uc003uek.3_Intron|STYXL1_uc003uel.2_Missense_Mutation_p.V76L|STYXL1_uc003uem.2_Missense_Mutation_p.V76L|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.V76L|STYXL1_uc003uen.1_Missense_Mutation_p.V76L	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	76	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0						TTATCATACACCACGCAGTAC	0.423												
COL1A2	1278	broad.mit.edu	37	7	94056367	94056367	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:94056367T>C	uc003ung.1	+	47	3624	c.3153T>C	c.(3151-3153)GGT>GGC	p.G1051G	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1051					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCCTGCTGGTCCTAGGGTAG	0.517										HNSCC(75;0.22)		
DYNC1I1	1780	broad.mit.edu	37	7	95499296	95499296	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:95499296C>T	uc003uoc.3	+	6	804	c.527C>T	c.(526-528)ACG>ATG	p.T176M	DYNC1I1_uc003uod.3_Missense_Mutation_p.T159M|DYNC1I1_uc003uob.2_Missense_Mutation_p.T139M|DYNC1I1_uc003uoe.3_Missense_Mutation_p.T156M|DYNC1I1_uc010lfl.2_Missense_Mutation_p.T165M	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	176					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCTCTTGCCACGCATCAGTCT	0.453												
DYNC1I1	1780	broad.mit.edu	37	7	95661985	95661985	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:95661985G>A	uc003uoc.3	+	12	1451	c.1174G>A	c.(1174-1176)GTG>ATG	p.V392M	DYNC1I1_uc003uod.3_Missense_Mutation_p.V375M|DYNC1I1_uc003uob.2_Missense_Mutation_p.V355M|DYNC1I1_uc003uoe.3_Missense_Mutation_p.V372M|DYNC1I1_uc010lfl.2_Missense_Mutation_p.V381M	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	392	WD 3.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GCAGCATCCCGTGTACTGTGT	0.418												
DLX5	1749	broad.mit.edu	37	7	96653701	96653701	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:96653701C>T	uc003uon.2	-	1	443	c.235G>A	c.(235-237)GGC>AGC	p.G79S	DLX5_uc011kim.1_Missense_Mutation_p.G79S	NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	79					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CCGTTCACGCCGTGATACTGA	0.612												
TRRAP	8295	broad.mit.edu	37	7	98524886	98524886	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:98524886C>T	uc003upp.2	+	23	3281	c.3072C>T	c.(3070-3072)GGC>GGT	p.G1024G	TRRAP_uc011kis.1_Silent_p.G1024G|TRRAP_uc003upr.2_Silent_p.G716G	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1024					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)			CCCTGACAGGCGCCTTCATGT	0.562												
ARPC1B	10095	broad.mit.edu	37	7	98988636	98988636	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:98988636C>T	uc003upz.2	+	6	710	c.621C>T	c.(619-621)GGC>GGT	p.G207G	ARPC1B_uc003uqa.2_Silent_p.G207G|ARPC1B_uc003uqb.2_Silent_p.G207G|ARPC1B_uc003uqc.2_Silent_p.G207G|ARPC1B_uc003uqd.2_Silent_p.G19G	NM_005720	NP_005711	O15143	ARC1B_HUMAN	actin related protein 2/3 complex subunit 1B	207					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton				0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGGTACATGGCGTCTGTTTCT	0.637												
TAF6	6878	broad.mit.edu	37	7	99711274	99711274	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:99711274G>T	uc003uti.2	-	4	443	c.362C>A	c.(361-363)CCT>CAT	p.P121H	TAF6_uc003utg.2_Missense_Mutation_p.P62H|TAF6_uc003uth.2_Missense_Mutation_p.P178H|TAF6_uc003utk.2_Missense_Mutation_p.P121H|TAF6_uc011kji.1_Missense_Mutation_p.P158H|TAF6_uc003utj.2_Missense_Mutation_p.P111H|TAF6_uc003utl.2_Missense_Mutation_p.P121H|TAF6_uc003utm.2_Missense_Mutation_p.P121H|TAF6_uc003utn.1_Intron	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	121					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGGGGCAGAGGGGTATTGAT	0.597												
C7orf51	222950	broad.mit.edu	37	7	100084560	100084560	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:100084560C>T	uc003uvd.1	+	3	344	c.185C>T	c.(184-186)ACG>ATG	p.T62M	C7orf51_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	62										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTTTCATGACGATGCCCGCC	0.751												
SH2B2	10603	broad.mit.edu	37	7	101944555	101944555	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:101944555C>T	uc011kko.1	+	2	895	c.850C>T	c.(850-852)CCG>TCG	p.P284S		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	241	PH.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity				0						GTTCTTCGTGCCGCCCAAAGT	0.692												
PNPLA8	50640	broad.mit.edu	37	7	108137999	108137999	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:108137999G>T	uc003vff.1	-	7	1788	c.1381C>A	c.(1381-1383)CTA>ATA	p.L461I	PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.L461I|PNPLA8_uc003vfi.1_Missense_Mutation_p.L361I|PNPLA8_uc003vfj.1_Missense_Mutation_p.L461I|PNPLA8_uc003vfk.1_Missense_Mutation_p.L361I	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	461	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(2)	2						AATTTTCGTAGGGTCTGGAGA	0.343												
CTTNBP2	83992	broad.mit.edu	37	7	117368281	117368281	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:117368281T>C	uc003vjf.2	-	17	4009	c.3917A>G	c.(3916-3918)AAG>AGG	p.K1306R		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1306										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)		GTCGACAATCTTGCACACAGG	0.537												
CTTNBP2	83992	broad.mit.edu	37	7	117400559	117400559	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:117400559G>A	uc003vjf.2	-	10	3194	c.3102C>T	c.(3100-3102)GAC>GAT	p.D1034D		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1034										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)		TGCAAGTCACGTCTTCCAGAC	0.458												
PAX4	5078	broad.mit.edu	37	7	127253099	127253099	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:127253099A>T	uc010lld.1	-	6	874	c.668T>A	c.(667-669)CTC>CAC	p.L223H	PAX4_uc003vmf.2_Missense_Mutation_p.L221H|PAX4_uc003vmg.1_Missense_Mutation_p.L223H|PAX4_uc003vmh.2_Missense_Mutation_p.L221H	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	231					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L223L(1)		ovary(1)	1						TTCCCACTTGAGCTTCTCTTG	0.433												
FLNC	2318	broad.mit.edu	37	7	128486949	128486949	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:128486949G>A	uc003vnz.3	+	24	4487	c.4278G>A	c.(4276-4278)CGG>CGA	p.R1426R	FLNC_uc003voa.3_Silent_p.R1426R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1426	Filamin 12.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TCGGGGGGCGGCCCATCCCAG	0.592												
IRF5	3663	broad.mit.edu	37	7	128587855	128587855	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:128587855G>A	uc003vog.2	+	8	951	c.830G>A	c.(829-831)GGC>GAC	p.G277D	IRF5_uc003voh.2_Missense_Mutation_p.G261D|IRF5_uc010llt.2_Missense_Mutation_p.G185D|IRF5_uc003voi.2_Missense_Mutation_p.G261D|IRF5_uc003voj.3_Missense_Mutation_p.G261D|IRF5_uc010llw.1_3'UTR	NM_002200	NP_002191	Q13568	IRF5_HUMAN	interferon regulatory factor 5 isoform a	271					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AACCCCCATGGCTGCCGGCTC	0.662												
NUP205	23165	broad.mit.edu	37	7	135286176	135286176	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:135286176T>C	uc003vsw.2	+	17	2464	c.2433T>C	c.(2431-2433)AAT>AAC	p.N811N		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	811					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						ATCTGCTGAATGAGTCACCAA	0.408												
CREB3L2	64764	broad.mit.edu	37	7	137686444	137686444	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:137686444A>G	uc003vtw.2	-	1	403	c.8T>C	c.(7-9)GTG>GCG	p.V3A	CREB3L2_uc003vtx.1_Missense_Mutation_p.V3A|CREB3L2_uc003vty.3_Missense_Mutation_p.V3A|AKR1D1_uc011kqb.1_5'Flank|AKR1D1_uc011kqc.1_5'Flank|AKR1D1_uc011kqd.1_5'Flank	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	3	Cytoplasmic (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						GCTCTCCAGCACCTCCATGGC	0.706			T	FUS	fibromyxoid sarcoma							
KLRG2	346689	broad.mit.edu	37	7	139167678	139167678	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:139167678C>T	uc003vvb.2	-	1	780	c.711G>A	c.(709-711)GCG>GCA	p.A237A	KLRG2_uc010lnc.2_Silent_p.A237A	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G,	237						integral to membrane	sugar binding			central_nervous_system(1)	1	Melanoma(164;0.233)					CGTCCAACCCCGCGCGGGGCA	0.741												
CNTNAP2	26047	broad.mit.edu	37	7	147600678	147600678	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:147600678G>T	uc003weu.1	+	14	2636	c.2120G>T	c.(2119-2121)TGG>TTG	p.W707L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	707	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACACTTGGTGGGTTGGCAAA	0.512										HNSCC(39;0.1)		
CNTNAP2	26047	broad.mit.edu	37	7	148106550	148106550	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:148106550G>A	uc003weu.1	+	23	4299	c.3783G>A	c.(3781-3783)TCG>TCA	p.S1261S	CNTNAP2_uc003wev.1_Silent_p.S38S	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1261	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACAGAAACTCGGCTATCATTG	0.408										HNSCC(39;0.1)		
TMEM176A	55365	broad.mit.edu	37	7	150498659	150498659	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:150498659T>C	uc003whx.1	+	2	99	c.21T>C	c.(19-21)GAT>GAC	p.D7D	TMEM176B_uc003wht.3_5'Flank|TMEM176B_uc003whu.3_5'Flank|TMEM176B_uc003whv.3_5'Flank|TMEM176B_uc003whw.3_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	hepatocellular carcinoma-associated antigen 112	7						integral to membrane				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGACAGTGATGAGATGGCCC	0.577												
KCNH2	3757	broad.mit.edu	37	7	150655428	150655428	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:150655428A>G	uc003wic.2	-	4	648	c.635T>C	c.(634-636)CTG>CCG	p.L212P	KCNH2_uc003wib.2_5'Flank|KCNH2_uc011kux.1_Missense_Mutation_p.L116P|KCNH2_uc003wid.2_5'Flank|KCNH2_uc003wie.2_Missense_Mutation_p.L212P	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	212	Cytoplasmic (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CACTTCGTCCAGGGCCAGCGA	0.612												
SLC4A2	6522	broad.mit.edu	37	7	150768237	150768237	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:150768237G>A	uc003wit.3	+	13	2084	c.1828G>A	c.(1828-1830)GTG>ATG	p.V610M	SLC4A2_uc011kve.1_Missense_Mutation_p.V601M|SLC4A2_uc003wiu.3_Missense_Mutation_p.V596M|SLC4A2_uc003wiv.3_5'Flank	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	610	Cytoplasmic (Potential).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACTGCAGCGTGGTGCTGCC	0.647												
AGAP3	116988	broad.mit.edu	37	7	150814787	150814787	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:150814787C>T	uc003wjg.1	+	5	632	c.629C>T	c.(628-630)ACG>ATG	p.T210M	AGAP3_uc003wje.1_Translation_Start_Site|AGAP3_uc003wjf.1_Missense_Mutation_p.T210M|AGAP3_uc010lpy.1_Missense_Mutation_p.T210M|AGAP3_uc003wjh.1_Missense_Mutation_p.T390M	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	174	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3						AGTTTCCAGACGGTGTACAAC	0.577												
MLL3	58508	broad.mit.edu	37	7	151866323	151866323	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:151866323T>C	uc003wla.2	-	41	9684	c.9465A>G	c.(9463-9465)ATA>ATG	p.I3155M	MLL3_uc003wkz.2_Missense_Mutation_p.I2216M|MLL3_uc003wky.2_Missense_Mutation_p.I664M	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3155	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TCTGATGTGTTATACTGCCAT	0.289			N		medulloblastoma							
DPP6	1804	broad.mit.edu	37	7	154561183	154561183	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:154561183G>A	uc003wlk.2	+	9	1069	c.940G>A	c.(940-942)GCC>ACC	p.A314T	DPP6_uc003wli.2_Missense_Mutation_p.A250T|DPP6_uc003wlm.2_Missense_Mutation_p.A252T|DPP6_uc011kvq.1_Missense_Mutation_p.A207T	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	314	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CACGAGACTCGCCTACGCCGC	0.522												
ESYT2	57488	broad.mit.edu	37	7	158536259	158536259	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:158536259C>T	uc003wob.1	-	16	1902	c.1836G>A	c.(1834-1836)TCG>TCA	p.S612S	ESYT2_uc003woc.1_Silent_p.S436S|ESYT2_uc003wny.1_5'Flank|ESYT2_uc003wnz.1_Silent_p.S51S|ESYT2_uc003woa.1_Silent_p.S189S	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	640						integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						TGTTTGGACCCGAGTTACTGA	0.592												
WDR60	55112	broad.mit.edu	37	7	158711469	158711469	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:158711469T>C	uc003woe.3	+	15	1988	c.1830T>C	c.(1828-1830)GCT>GCC	p.A610A	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.A242A	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	610										ovary(2)|breast(1)|central_nervous_system(1)	4	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)		GCTTGGCAGCTGAACCCAGCT	0.443												
ERICH1	157697	broad.mit.edu	37	8	624006	624006	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:624006T>A	uc003wph.2	-	4	411	c.346A>T	c.(346-348)AAG>TAG	p.K116*	ERICH1_uc011kwh.1_Nonsense_Mutation_p.K116*|ERICH1_uc003wpe.1_Nonsense_Mutation_p.K22*|ERICH1_uc003wpi.2_5'UTR	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	116										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GATTTATGCTTCCTAATTCTT	0.308												
CSMD1	64478	broad.mit.edu	37	8	2832067	2832067	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:2832067G>C	uc011kwk.1	-	56	9039	c.8649C>G	c.(8647-8649)CAC>CAG	p.H2883Q	CSMD1_uc011kwj.1_Missense_Mutation_p.H2212Q|CSMD1_uc010lrg.2_Missense_Mutation_p.H893Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2883	Sushi 21.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCAGGAGTAGTGCACGACGG	0.577												
CLDN23	137075	broad.mit.edu	37	8	8560453	8560453	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:8560453C>T	uc003wsi.2	+	1	788	c.545C>T	c.(544-546)GCG>GTG	p.A182V		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	claudin 23	182	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CTCAGCTTCGCGCCCTGGTGC	0.726												
EFHA2	286097	broad.mit.edu	37	8	16921653	16921653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:16921653C>T	uc003wxd.2	+	2	484	c.442C>T	c.(442-444)CGA>TGA	p.R148*		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	148						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		TCGGGAGAGGCGATTTCGTTT	0.383												
SLC18A1	6570	broad.mit.edu	37	8	20007219	20007219	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:20007219C>T	uc011kyq.1	-	13	1585	c.1114G>A	c.(1114-1116)GGG>AGG	p.G372R	SLC18A1_uc003wzl.2_Missense_Mutation_p.G159R|SLC18A1_uc003wzm.2_Missense_Mutation_p.G372R|SLC18A1_uc011kyr.1_Missense_Mutation_p.G372R|SLC18A1_uc003wzn.2_Missense_Mutation_p.G340R|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.G340R	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine),	372	Helical; (Potential).				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			ovary(2)	2				Colorectal(74;0.0747)		ACCAGCATCCCGATTAGGGAA	0.443												
C8orf58	541565	broad.mit.edu	37	8	22458739	22458739	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:22458739A>G	uc003xce.2	+	2	497	c.385A>G	c.(385-387)ACC>GCC	p.T129A	C8orf58_uc011kzl.1_Missense_Mutation_p.T129A|C8orf58_uc003xcf.2_Missense_Mutation_p.T129A	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	hypothetical protein LOC541565	129										skin(1)	1		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AACAGCTCCCACCAGCTTGTC	0.667												
DOCK5	80005	broad.mit.edu	37	8	25199952	25199952	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:25199952A>T	uc003xeg.2	+	25	2683	c.2546A>T	c.(2545-2547)GAC>GTC	p.D849V	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.D563V|DOCK5_uc003xei.2_Missense_Mutation_p.D419V|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	849						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGCATTCCTGACAACCAGCTG	0.433												
KCTD9	54793	broad.mit.edu	37	8	25290076	25290076	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:25290076C>G	uc003xeo.2	-	11	1155	c.997G>C	c.(997-999)GCA>CCA	p.A333P	PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	333	Pentapeptide repeat 2.					voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TTCAACTTTGCATTTTTTAAG	0.403												
PTK2B	2185	broad.mit.edu	37	8	27297930	27297930	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:27297930C>T	uc003xfn.1	+	26	2819	c.2011C>T	c.(2011-2013)CGC>TGC	p.R671C	PTK2B_uc003xfo.1_Missense_Mutation_p.R671C|PTK2B_uc003xfp.1_Missense_Mutation_p.R671C|PTK2B_uc003xfq.1_Missense_Mutation_p.R671C|PTK2B_uc003xfr.1_Missense_Mutation_p.R417C	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	671	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TGACCGGCCCCGCTTCACCGA	0.652												
SCARA5	286133	broad.mit.edu	37	8	27779548	27779548	+	Silent	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:27779548C>T	uc003xgj.2	-	4	896	c.456G>A	c.(454-456)GCG>GCA	p.A152A	SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Silent_p.A109A|SCARA5_uc003xgl.2_Silent_p.A152A	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	152	Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCCCCACAGCGCGCCCTCCA	0.726												
TEX15	56154	broad.mit.edu	37	8	30700523	30700523	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:30700523A>G	uc003xil.2	-	1	6011	c.6011T>C	c.(6010-6012)TTA>TCA	p.L2004S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2004										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAGATCCTGTAATTTTTTAAG	0.289												
MYST3	7994	broad.mit.edu	37	8	41790166	41790166	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:41790166G>A	uc010lxb.2	-	18	6116	c.5572C>T	c.(5572-5574)CGC>TGC	p.R1858C	MYST3_uc010lxc.2_Missense_Mutation_p.R1858C|MYST3_uc003xon.3_Missense_Mutation_p.R1858C	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1858					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)			GACTTGGAGCGGATGGAAATG	0.592												
CLVS1	157807	broad.mit.edu	37	8	62412012	62412012	+	Splice_Site	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:62412012A>G	uc003xuh.2	+	6	1302	c.978_splice	c.e6-2	p.R326_splice	CLVS1_uc003xui.2_Splice_Site|CLVS1_uc010lyp.2_Splice_Site_p.I248_splice	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1						lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						CCCTCTTGTTAGATCTCAGTC	0.433												
YTHDF3	253943	broad.mit.edu	37	8	64099255	64099255	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:64099255G>A	uc003xuy.2	+	5	1002	c.686G>A	c.(685-687)AGC>AAC	p.S229N	YTHDF3_uc010lys.2_Missense_Mutation_p.S173N|YTHDF3_uc003xuz.2_Missense_Mutation_p.S173N|YTHDF3_uc003xva.2_Missense_Mutation_p.S173N|YTHDF3_uc011len.1_Missense_Mutation_p.S173N	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	229											0	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			CCCCCAGTTAGCAGTGCAGCA	0.512												
DNAJC5B	85479	broad.mit.edu	37	8	66988980	66988980	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:66988980G>A	uc003xvs.1	+	4	496	c.205G>A	c.(205-207)GCA>ACA	p.A69T	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	69	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CAACGCCCACGCAATACTTAC	0.428												
VCPIP1	80124	broad.mit.edu	37	8	67578046	67578046	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:67578046T>C	uc003xwn.2	-	1	1407	c.1148A>G	c.(1147-1149)GAC>GGC	p.D383G	SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	383					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTTAATAAGGTCCTGAGGCAC	0.423												
CA13	377677	broad.mit.edu	37	8	86178909	86178909	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:86178909G>A	uc003ydg.2	+	4	769	c.427G>A	c.(427-429)GCT>ACT	p.A143T	CA13_uc003ydf.1_RNA	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	143					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0						AGATGGACTGGCTGTCTTGGG	0.418												
CNGB3	54714	broad.mit.edu	37	8	87656088	87656088	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:87656088T>C	uc003ydx.2	-	10	1115	c.1069A>G	c.(1069-1071)ACT>GCT	p.T357A	CNGB3_uc010maj.2_Missense_Mutation_p.T219A	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	357	Extracellular (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						AAGTATCCAGTTGTTCGAATA	0.363												
NBN	4683	broad.mit.edu	37	8	90965628	90965628	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:90965628C>A	uc003yej.1	-	11	1799	c.1689G>T	c.(1687-1689)TTG>TTT	p.L563F	NBN_uc003yei.1_Missense_Mutation_p.L481F|NBN_uc011lgb.1_Missense_Mutation_p.L563F	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	563					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATAACTGTTCCAATACTTCAT	0.353								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome			
TMEM64	169200	broad.mit.edu	37	8	91643842	91643842	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:91643842G>A	uc003yen.2	-	2	889	c.889C>T	c.(889-891)CGG>TGG	p.R297W	TMEM64_uc003yeo.2_Missense_Mutation_p.R36W|TMEM64_uc011lgf.1_Intron	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	transmembrane protein 64 isoform 1	297						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TCCATTGTCCGCAGGGTGGTA	0.423												
CTHRC1	115908	broad.mit.edu	37	8	104388033	104388033	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:104388033G>A	uc003ylk.2	+	2	317	c.218G>A	c.(217-219)GGC>GAC	p.G73D	CTHRC1_uc011lhq.1_Missense_Mutation_p.G73D	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	73	Collagen-like.			G -> V (in Ref. 3; AAQ89273).		collagen				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGGGCCAATGGCATTCCGGGT	0.517												
DCAF13	25879	broad.mit.edu	37	8	104432575	104432575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:104432575C>T	uc003yln.2	+	2	887	c.610C>T	c.(610-612)CGA>TGA	p.R204*	DCAF13_uc003ylm.1_Intron|DCAF13_uc003ylo.2_Translation_Start_Site	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	52					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						CAAACTGGAACGAGTATTTGC	0.428												
RIMS2	9699	broad.mit.edu	37	8	104922413	104922413	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:104922413C>T	uc003yls.2	+	3	1251	c.1010C>T	c.(1009-1011)GCA>GTA	p.A337V	RIMS2_uc003ylp.2_Missense_Mutation_p.A559V|RIMS2_uc003ylw.2_Missense_Mutation_p.A367V|RIMS2_uc003ylq.2_Missense_Mutation_p.A367V|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_5'Flank	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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)			AGCAGTGAGGCATCCCCAATG	0.388										HNSCC(12;0.0054)		
TM7SF4	81501	broad.mit.edu	37	8	105361069	105361069	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:105361069G>T	uc003ylx.1	+	2	338	c.289G>T	c.(289-291)GCT>TCT	p.A97S		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	97					osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGGCAGGAATGCTTTGATTGC	0.448												
EXT1	2131	broad.mit.edu	37	8	118831994	118831994	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:118831994G>A	uc003yok.1	-	6	2230	c.1457C>T	c.(1456-1458)GCG>GTG	p.A486V		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	486	Lumenal (Potential).		A -> V (in EXT1; no loss of activity).	Missing: No effect on heparan-sulfate biosynthesis.|A->H: No effect on heparan-sulfate biosynthesis.	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)			GGGGGTCACCGCATGGATGAC	0.517			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome			
COL14A1	7373	broad.mit.edu	37	8	121344953	121344953	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:121344953G>A	uc003yox.2	+	42	5029	c.4764G>A	c.(4762-4764)CCG>CCA	p.P1588P	COL14A1_uc003yoz.2_Silent_p.P553P	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1588	Triple-helical region 1 (COL2).				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)			GCATGGGACCGCAAGGCGCCC	0.507												
KCNQ3	3786	broad.mit.edu	37	8	133142050	133142050	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:133142050G>A	uc003ytj.2	-	15	2303	c.2078C>T	c.(2077-2079)CCG>CTG	p.P693L	KCNQ3_uc010mdt.2_Missense_Mutation_p.P681L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	693					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)			GGGTGGTTCCGGGGGGCCTGT	0.547												
SLC45A4	57210	broad.mit.edu	37	8	142221621	142221621	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:142221621C>A	uc003ywd.1	-	8	2625	c.2317G>T	c.(2317-2319)GGG>TGG	p.G773W	SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_3'UTR	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	Error:Variant_position_missing_in_Q5BKX6_after_alignment					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGGCTGCCCTGGGCACAAT	0.512												
SLC45A4	57210	broad.mit.edu	37	8	142228980	142228980	+	Silent	SNP	G	G	A	rs143410648		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:142228980G>A	uc003ywd.1	-	4	914	c.606C>T	c.(604-606)ATC>ATT	p.I202I	SLC45A4_uc003ywc.1_Silent_p.I202I|SLC45A4_uc010meq.1_Silent_p.I200I	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	253	Helical; (Potential).				transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCTCCTCGTCGATGCTGAACA	0.667												
CYP11B2	1585	broad.mit.edu	37	8	143994722	143994722	+	Missense_Mutation	SNP	G	G	A	rs149902981		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:143994722G>A	uc003yxk.1	-	6	1103	c.1100C>T	c.(1099-1101)GCG>GTG	p.A367V		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	367					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CTTGAGGGCCGCCCGCAGCAA	0.687									Familial_Hyperaldosteronism_type_I			
ZNF707	286075	broad.mit.edu	37	8	144776030	144776030	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:144776030C>A	uc003yze.3	+	7	761	c.446C>A	c.(445-447)CCG>CAG	p.P149Q	ZNF707_uc010mfh.2_Missense_Mutation_p.P149Q|ZNF707_uc010mfi.2_Missense_Mutation_p.P149Q|ZNF707_uc003yzf.3_Missense_Mutation_p.P149Q|ZNF707_uc003yzh.3_Missense_Mutation_p.P76Q|ZNF707_uc011lkq.1_RNA	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACGGCTTTCCCGTGTCAGGTG	0.652												
PLEC	5339	broad.mit.edu	37	8	144990643	144990643	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:144990643G>A	uc003zaf.1	-	32	13927	c.13757C>T	c.(13756-13758)GCG>GTG	p.A4586V	PLEC_uc003zab.1_Missense_Mutation_p.A4449V|PLEC_uc003zac.1_Missense_Mutation_p.A4453V|PLEC_uc003zad.2_Missense_Mutation_p.A4449V|PLEC_uc003zae.1_Missense_Mutation_p.A4417V|PLEC_uc003zag.1_Missense_Mutation_p.A4427V|PLEC_uc003zah.2_Missense_Mutation_p.A4435V|PLEC_uc003zaj.2_Missense_Mutation_p.A4476V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4586	Globular 2.|Plectin 33.				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						GCGGTCCAGCGCGTCCTTATA	0.657												
CPSF1	29894	broad.mit.edu	37	8	145619858	145619858	+	Splice_Site	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:145619858C>T	uc003zcj.2	-	31	3642	c.3567_splice	c.e31+1	p.K1189_splice	MIR939_hsa-mir-939|MI0005761_5'Flank	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,						mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GACTGGCACACCTTCTGGCCG	0.662												
ARHGAP39	80728	broad.mit.edu	37	8	145772647	145772647	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:145772647G>A	uc003zdt.1	-	6	2378	c.1823C>T	c.(1822-1824)GCG>GTG	p.A608V	ARHGAP39_uc011llk.1_Missense_Mutation_p.A608V|ARHGAP39_uc003zds.1_Missense_Mutation_p.A608V	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	KIAA1688 protein	608					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity				0						CTGGGCCAGCGCCTCGTCCTC	0.682												
KANK1	23189	broad.mit.edu	37	9	711335	711335	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:711335T>C	uc003zgl.1	+	7	1218	c.569T>C	c.(568-570)ATG>ACG	p.M190T	KANK1_uc003zgm.2_Missense_Mutation_p.M190T|KANK1_uc003zgn.1_Missense_Mutation_p.M190T|KANK1_uc003zgo.1_Missense_Mutation_p.M190T|KANK1_uc003zgp.1_Missense_Mutation_p.M190T|KANK1_uc003zgq.2_Missense_Mutation_p.M32T|KANK1_uc003zgr.1_Missense_Mutation_p.M32T|KANK1_uc003zgs.1_Missense_Mutation_p.M32T	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	190					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)		TTTGGAGGCATGGGCACCACA	0.542												
HAUS6	54801	broad.mit.edu	37	9	19058441	19058441	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:19058441A>G	uc003znk.2	-	16	2577	c.2324T>C	c.(2323-2325)ATA>ACA	p.I775T	HAUS6_uc011lmz.1_Missense_Mutation_p.I495T|HAUS6_uc003znl.1_Missense_Mutation_p.I639T	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	775					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						TTCGTGTAATATGCCAAAATC	0.338												
TOPORS	10210	broad.mit.edu	37	9	32542036	32542036	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:32542036T>C	uc003zrb.2	-	3	2654	c.2487A>G	c.(2485-2487)TCA>TCG	p.S829S	TOPORS_uc003zrc.2_Silent_p.S762S	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	829	Interaction with TOP1.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CCAATTTTGATGAAGATTTTT	0.398												
ENHO	375704	broad.mit.edu	37	9	34521482	34521482	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:34521482C>T	uc003zun.1	-	2	636	c.212G>A	c.(211-213)AGC>AAC	p.S71N	ENHO_uc003zuo.2_Intron	NM_198573	NP_940975	Q6UWT2	ENHO_HUMAN	adropin precursor	71						extracellular region					0						CAGCAGGTAGCTGCCTTCATG	0.617												
CCL19	6363	broad.mit.edu	37	9	34690262	34690262	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:34690262C>T	uc003zvn.2	-	2	265	c.127G>A	c.(127-129)GTG>ATG	p.V43M	CCL19_uc010mkf.2_RNA	NM_006274	NP_006265	Q99731	CCL19_HUMAN	small inducible cytokine A19 precursor	43					activation of JUN kinase activity|cell communication|cell maturation|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|interleukin-12 secretion|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of Cdc42 GTPase activity|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB import into nucleus|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of receptor-mediated endocytosis|positive regulation of T cell proliferation|positive regulation of T-helper 1 cell differentiation|positive regulation of tumor necrosis factor production|regulation of cell projection assembly|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|response to virus|T cell costimulation	extracellular space	CCR10 chemokine receptor binding|CCR7 chemokine receptor binding|chemokine activity				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AAGTTCCTCACGATGTACCCA	0.557												
CREB3	10488	broad.mit.edu	37	9	35736698	35736698	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:35736698T>C	uc003zxv.2	+	9	1544	c.1091T>C	c.(1090-1092)ATT>ACT	p.I364T	CREB3_uc010mla.2_Missense_Mutation_p.I283T	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	388	Lumenal (Potential).				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity				0	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CCCTCTGTCATTTTGCAGGAC	0.567											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RECK	8434	broad.mit.edu	37	9	36112383	36112383	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:36112383G>A	uc003zyv.2	+	16	2056	c.1970G>A	c.(1969-1971)CGC>CAC	p.R657H	RECK_uc003zyw.2_Missense_Mutation_p.R529H|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	657	Kazal-like 1.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGCATTGCTCGCTGTGTGGGC	0.498												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	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	71849361	71849361	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:71849361A>G	uc004ahe.2	+	12	1878	c.1678A>G	c.(1678-1680)ACA>GCA	p.T560A	TJP2_uc011lrs.1_Missense_Mutation_p.T537A|TJP2_uc011lrt.1_Missense_Mutation_p.T537A|TJP2_uc004ahd.2_Missense_Mutation_p.T560A|TJP2_uc004ahf.2_Missense_Mutation_p.T560A|TJP2_uc011lru.1_Missense_Mutation_p.T564A|TJP2_uc011lrv.1_Missense_Mutation_p.T582A	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	560	PDZ 3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						ATAGGTGAACACACAGGATTT	0.308												
TJP2	9414	broad.mit.edu	37	9	71853685	71853685	+	Missense_Mutation	SNP	G	G	A	rs145368713	by1000genomes	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:71853685G>A	uc004ahe.2	+	16	2535	c.2335G>A	c.(2335-2337)GTG>ATG	p.V779M	TJP2_uc011lrs.1_Missense_Mutation_p.V756M|TJP2_uc011lrt.1_Missense_Mutation_p.V756M|TJP2_uc004ahd.2_Missense_Mutation_p.V779M|TJP2_uc004ahf.2_Missense_Mutation_p.V779M|TJP2_uc011lru.1_Missense_Mutation_p.V783M|TJP2_uc011lrv.1_Missense_Mutation_p.V801M	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	779	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						GTTAAATACCGTGAGGCAAAT	0.378												
FOXB2	442425	broad.mit.edu	37	9	79635498	79635498	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:79635498G>A	uc004ako.1	+	1	928	c.928G>A	c.(928-930)GTC>ATC	p.V310I		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	310					brain development|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						TGGCAACGTCGTCAGCTCCGT	0.577												
RASEF	158158	broad.mit.edu	37	9	85613288	85613288	+	Silent	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:85613288A>G	uc004amo.1	-	13	2058	c.1797T>C	c.(1795-1797)GGT>GGC	p.G599G		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	599	GTP (Probable).				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						GCCTCTCCTGACCAGCTGTAT	0.463												
S1PR3	1903	broad.mit.edu	37	9	91617035	91617035	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:91617035G>A	uc004aqe.2	+	2	1316	c.920G>A	c.(919-921)CGG>CAG	p.R307Q		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	307	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						GAGATGCGGCGGGCCTTCTTC	0.622												
SHC3	53358	broad.mit.edu	37	9	91793266	91793266	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:91793266G>A	uc004aqg.2	-	1	417	c.110C>T	c.(109-111)GCG>GTG	p.A37V		NM_016848	NP_058544	Q92529	SHC3_HUMAN	src homology 2 domain-containing transforming	37					central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			lung(3)|skin(1)	4						ggtcgcgcgcgccgccgAAAC	0.557												
NFIL3	4783	broad.mit.edu	37	9	94172525	94172525	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:94172525G>A	uc004arh.2	-	2	887	c.492C>T	c.(490-492)GAC>GAT	p.D164D		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	164	Ser-rich.				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0						GTTCGTGCTCGTCCACAAATG	0.428												
FAM120A	23196	broad.mit.edu	37	9	96326587	96326587	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:96326587C>A	uc004atw.2	+	18	3147	c.3122C>A	c.(3121-3123)TCT>TAT	p.S1041Y	FAM120A_uc004aty.2_Missense_Mutation_p.S822Y|FAM120A_uc004atz.2_Missense_Mutation_p.S689Y|FAM120A_uc010mrg.2_Missense_Mutation_p.S308Y|FAM120A_uc004aua.1_RNA	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	1041	RNA binding.					cytoplasm|plasma membrane	RNA binding				0						TCGAAGTCCTCTGCTATGTCT	0.542												
PHF2	5253	broad.mit.edu	37	9	96428047	96428047	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:96428047G>A	uc004aub.2	+	15	2164	c.2017G>A	c.(2017-2019)GTG>ATG	p.V673M	PHF2_uc011lug.1_Missense_Mutation_p.V556M|PHF2_uc004auc.2_Missense_Mutation_p.V92M	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	673					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)		GCCCAAGCCCGTGCGGGATGA	0.587												
PTPN3	5774	broad.mit.edu	37	9	112216795	112216795	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:112216795G>A	uc004bed.2	-	5	461	c.349C>T	c.(349-351)CTG>TTG	p.L117L	PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.L117L|PTPN3_uc011lwh.1_Intron|PTPN3_uc004bee.3_3'UTR	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	117	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						TCTTGCTGCAGTGTGTTGGGA	0.313												
SNX30	401548	broad.mit.edu	37	9	115598611	115598611	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:115598611G>T	uc004bgj.3	+	5	884	c.736G>T	c.(736-738)GGT>TGT	p.G246C	SNX30_uc004bgi.3_5'Flank	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	246					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0						TGCTGCCATAGGTGACTACTT	0.502												
C9orf43	257169	broad.mit.edu	37	9	116187323	116187323	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:116187323C>T	uc004bho.3	+	9	1228	c.832C>T	c.(832-834)CGT>TGT	p.R278C	C9orf43_uc004bhp.2_Missense_Mutation_p.R278C	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	278											0						ATATCCTGAACGTTTGAAGAA	0.408												
ZNF618	114991	broad.mit.edu	37	9	116764939	116764939	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:116764939A>C	uc004bid.2	+	6	646	c.547A>C	c.(547-549)AGC>CGC	p.S183R	ZNF618_uc004bib.1_Missense_Mutation_p.S151R|ZNF618_uc004bic.2_Missense_Mutation_p.S151R|ZNF618_uc011lxi.1_Missense_Mutation_p.S151R|ZNF618_uc011lxj.1_Missense_Mutation_p.S151R	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGCCTCCCAAAGCAGTGAGTA	0.627												
TNC	3371	broad.mit.edu	37	9	117835903	117835903	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:117835903C>T	uc004bjj.3	-	10	3555	c.3193G>A	c.(3193-3195)GCA>ACA	p.A1065T	TNC_uc010mvf.2_Missense_Mutation_p.A1065T	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1065	Fibronectin type-III 5.				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						TTCACACGTGCGGGCTTGCTC	0.542												
TRIM32	22954	broad.mit.edu	37	9	119461547	119461547	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:119461547G>A	uc004bjx.2	+	2	1684	c.1526G>A	c.(1525-1527)TGC>TAC	p.C509Y	ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.C509Y	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN	tripartite motif-containing 32	509					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|kidney(1)	3						AAATACAGCTGCCTATGTAGT	0.517									Bardet-Biedl_syndrome			
DAB2IP	153090	broad.mit.edu	37	9	124535109	124535109	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:124535109G>A	uc004bln.2	+	12	2287	c.2218G>A	c.(2218-2220)GAC>AAC	p.D740N	DAB2IP_uc004blo.2_Missense_Mutation_p.D644N|DAB2IP_uc004blp.2_Missense_Mutation_p.D173N	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	768					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						GGCGGGCCCCGACGTCCTCCC	0.721												
GAPVD1	26130	broad.mit.edu	37	9	128117027	128117027	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:128117027C>T	uc010mwx.2	+	24	4044	c.3718C>T	c.(3718-3720)CGG>TGG	p.R1240W	GAPVD1_uc004bpp.2_Missense_Mutation_p.R1249W|GAPVD1_uc004bpq.2_Missense_Mutation_p.R1222W|GAPVD1_uc004bpr.2_Missense_Mutation_p.R1201W|GAPVD1_uc004bps.2_Missense_Mutation_p.R1195W|GAPVD1_uc004bpt.2_Missense_Mutation_p.R255W	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1240					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AAGAGTTTTGCGGGACAAAGA	0.428												
FAM125B	89853	broad.mit.edu	37	9	129243681	129243681	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:129243681A>C	uc004bqh.1	+	8	872	c.791A>C	c.(790-792)AAG>ACG	p.K264T	FAM125B_uc011lzy.1_Missense_Mutation_p.K249T|FAM125B_uc010mxd.2_Missense_Mutation_p.K257T	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	264	UMA.				protein transport	late endosome membrane					0						ATTTCAGAGAAGTTTTCTTGT	0.438												
GARNL3	84253	broad.mit.edu	37	9	130151311	130151311	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:130151311C>A	uc011mae.1	+	26	3057	c.2656C>A	c.(2656-2658)CTT>ATT	p.L886I	GARNL3_uc011mad.1_Missense_Mutation_p.L864I|GARNL3_uc010mxi.2_Missense_Mutation_p.L116I	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	886					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CAGTGTGGGCCTTGCTGCCAT	0.537												
FAM129B	64855	broad.mit.edu	37	9	130269149	130269149	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:130269149C>T	uc004brh.2	-	14	2418	c.2216G>A	c.(2215-2217)AGT>AAT	p.S739N	FAM129B_uc004bri.2_Missense_Mutation_p.S726N|FAM129B_uc004brj.3_3'UTR	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	739							protein binding				0						CACCCCTGCACTGTCCTCGGT	0.677												
SPTAN1	6709	broad.mit.edu	37	9	131344828	131344828	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:131344828G>A	uc004bvl.3	+	13	1756	c.1643G>A	c.(1642-1644)CGA>CAA	p.R548Q	SPTAN1_uc011mbg.1_Missense_Mutation_p.R548Q|SPTAN1_uc011mbh.1_Missense_Mutation_p.R560Q|SPTAN1_uc004bvm.3_Missense_Mutation_p.R548Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.R548Q	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	548	Spectrin 6.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						GCCACTCGCCGAGATGCTGTA	0.413												
LRRC8A	56262	broad.mit.edu	37	9	131671529	131671529	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:131671529A>G	uc004bwl.3	+	3	2340	c.2086A>G	c.(2086-2088)AAC>GAC	p.N696D	LRRC8A_uc010myp.2_Missense_Mutation_p.N696D|LRRC8A_uc010myq.2_Missense_Mutation_p.N696D	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	696	LRR 14.				pre-B cell differentiation	integral to membrane					0						CAGCCACAACAACCTGACCTT	0.617												
DOLK	22845	broad.mit.edu	37	9	131709462	131709462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:131709462G>A	uc004bwr.2	-	1	551	c.121C>T	c.(121-123)CGA>TGA	p.R41*	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	41	Cytoplasmic (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						CACGAGTATCGGTCCCATACG	0.652												
PPP2R4	5524	broad.mit.edu	37	9	131904775	131904775	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:131904775G>A	uc004bxm.1	+	10	1210	c.943G>A	c.(943-945)GCC>ACC	p.A315T	PPP2R4_uc004bxl.1_Missense_Mutation_p.A280T|PPP2R4_uc011mbo.1_Missense_Mutation_p.A315T|PPP2R4_uc010myr.1_Missense_Mutation_p.A61T|PPP2R4_uc004bxn.1_Missense_Mutation_p.A280T|PPP2R4_uc004bxo.1_Missense_Mutation_p.A238T|PPP2R4_uc011mbp.1_Missense_Mutation_p.A251T|PPP2R4_uc011mbq.1_Missense_Mutation_p.A238T|PPP2R4_uc010mys.1_Missense_Mutation_p.A245T|PPP2R4_uc011mbr.1_Missense_Mutation_p.A18T|PPP2R4_uc004bxp.2_RNA|PPP2R4_uc004bxq.2_RNA	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	315					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GAACATCAGCGCCGTCCCTTC	0.577											OREG0003933	type=REGULATORY REGION|Gene=PPP2R4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
FIBCD1	84929	broad.mit.edu	37	9	133779537	133779537	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:133779537C>T	uc004bzz.2	-	7	1545	c.1300G>A	c.(1300-1302)GGC>AGC	p.G434S	FIBCD1_uc011mcc.1_Missense_Mutation_p.G434S	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	434	Fibrinogen C-terminal.|Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CACTCCACGCCGTCGGCATAG	0.642												
BARHL1	56751	broad.mit.edu	37	9	135464750	135464750	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:135464750G>A	uc004cbp.1	+	3	1017	c.825G>A	c.(823-825)GCG>GCA	p.A275A		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	275						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		ACCCCGGCGCGGCGCTCTACC	0.677												
C9orf98	158067	broad.mit.edu	37	9	135690075	135690075	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:135690075C>A	uc004cbu.1	-	10	1485	c.929G>T	c.(928-930)AGG>ATG	p.R310M	C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.R106M	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	310	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		AAACGTGGTCCTATCTGCCAC	0.493												
TSC1	7248	broad.mit.edu	37	9	135771817	135771817	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:135771817G>A	uc004cca.2	-	23	3534	c.3300C>T	c.(3298-3300)AGC>AGT	p.S1100S	TSC1_uc004ccb.3_Silent_p.S1099S|TSC1_uc011mcq.1_Silent_p.S1049S|TSC1_uc011mcr.1_3'UTR	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	1100					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACTGGCTCTCGCTCTTATTAC	0.522			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
RALGDS	5900	broad.mit.edu	37	9	135982500	135982500	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:135982500A>G	uc004cco.2	-	7	1405	c.1385T>C	c.(1384-1386)GTG>GCG	p.V462A	RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.V450A|RALGDS_uc004ccr.2_Missense_Mutation_p.V461A|RALGDS_uc011mcv.1_Missense_Mutation_p.V433A|RALGDS_uc004ccs.2_Missense_Mutation_p.V407A|RALGDS_uc011mcw.1_Missense_Mutation_p.V533A|RALGDS_uc004ccv.1_Missense_Mutation_p.V231A|RALGDS_uc004ccu.1_Missense_Mutation_p.V231A	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	462	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GTGCTCCACCACCCTGGCCCT	0.617			T	CIITA	PMBL|Hodgkin Lymphona|							
RALGDS	5900	broad.mit.edu	37	9	135982538	135982538	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:135982538G>A	uc004cco.2	-	7	1367	c.1347C>T	c.(1345-1347)CTC>CTT	p.L449L	RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Silent_p.L437L|RALGDS_uc004ccr.2_Silent_p.L448L|RALGDS_uc011mcv.1_Silent_p.L420L|RALGDS_uc004ccs.2_Silent_p.L394L|RALGDS_uc011mcw.1_Silent_p.L520L|RALGDS_uc004ccv.1_Silent_p.L218L|RALGDS_uc004ccu.1_Silent_p.L218L	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	449	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTCGGTTCCCGAGGCAGGTGG	0.652			T	CIITA	PMBL|Hodgkin Lymphona|							
RPL7A	6130	broad.mit.edu	37	9	136217921	136217921	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:136217921G>A	uc004cde.1	+	7	721	c.691G>A	c.(691-693)GAT>AAT	p.D231N	MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_Missense_Mutation_p.D55N	NM_000972	NP_000963	P62424	RL7A_HUMAN	ribosomal protein L7a	231					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGACAGATACGATGAGGTAAG	0.428												
COL5A1	1289	broad.mit.edu	37	9	137622201	137622201	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:137622201G>A	uc004cfe.2	+	7	1426	c.1044G>A	c.(1042-1044)ACG>ACA	p.T348T		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	348	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTACTACACGCCCTCACCGT	0.632												
MRPS2	51116	broad.mit.edu	37	9	138395428	138395428	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:138395428G>A	uc004cfv.3	+	4	414	c.340G>A	c.(340-342)GAC>AAC	p.D114N	MRPS2_uc004cfw.3_Missense_Mutation_p.D24N|MRPS2_uc004cfx.3_Missense_Mutation_p.D29N|MRPS2_uc010nat.2_Missense_Mutation_p.D95N|uc004cfy.2_RNA	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	114					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCTGGACCACGACATCATCGA	0.587												
LHX3	8022	broad.mit.edu	37	9	139090568	139090568	+	Silent	SNP	G	G	A	rs138595537	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:139090568G>A	uc004cha.2	-	5	802	c.705C>T	c.(703-705)CGC>CGT	p.R235R	LHX3_uc004cgz.2_Silent_p.R240R	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	235					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TGGAGCCGCCGCGGGAGCGCT	0.672												
NOTCH1	4851	broad.mit.edu	37	9	139397775	139397775	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:139397775C>T	uc004chz.2	-	27	5026	c.5026G>A	c.(5026-5028)GTC>ATC	p.V1676I	NOTCH1_uc004cia.1_Missense_Mutation_p.V906I	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1676	Extracellular (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.S1675_I1676insG(3)|p.I1676_V1677>MF(2)|p.V1677>GIV(1)|p.I1676>TAFL(1)|p.I1676_V1677>I(1)		haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCCAGGTAGACGATGGAGCTG	0.672			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
C9orf172	389813	broad.mit.edu	37	9	139741105	139741105	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:139741105C>T	uc011meh.1	+	1	2239	c.2239C>T	c.(2239-2241)CGC>TGC	p.R747C	PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	747											0						CTTCCTGTCGCGCGGCCGCGG	0.697												
MXRA5	25878	broad.mit.edu	37	X	3228381	3228381	+	Silent	SNP	G	G	A	rs144105162	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:3228381G>A	uc004crg.3	-	7	8020	c.7863C>T	c.(7861-7863)GCC>GCT	p.A2621A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2621	Ig-like C2-type 10.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGTGGCCAGCGGCATTGCGGG	0.602												
TMEM27	57393	broad.mit.edu	37	X	15657776	15657776	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:15657776G>A	uc004cxc.1	-	5	677	c.421C>T	c.(421-423)CCC>TCC	p.P141S		NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27 precursor	141	Extracellular (Potential).				proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			ovary(1)	1	Hepatocellular(33;0.183)					ATCCAGATGGGCACAGATGGG	0.393												
SMS	6611	broad.mit.edu	37	X	21995195	21995195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:21995195C>T	uc004dag.2	+	5	447	c.346C>T	c.(346-348)CGA>TGA	p.R116*	SMS_uc011mjq.1_Nonsense_Mutation_p.R20*|SMS_uc004daf.1_Nonsense_Mutation_p.R63*|SMS_uc010nfs.2_5'Flank|SMS_uc010nft.2_5'Flank	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	116					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)	ACCCATAGTGCGAGGAGGAGC	0.453												
KDM6A	7403	broad.mit.edu	37	X	44949994	44949994	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:44949994C>T	uc004dge.3	+	26	4138	c.3763C>T	c.(3763-3765)CGG>TGG	p.R1255W	KDM6A_uc011mkz.1_Missense_Mutation_p.R1307W|KDM6A_uc011mla.1_Missense_Mutation_p.R1210W|KDM6A_uc011mlb.1_Missense_Mutation_p.R1262W|KDM6A_uc011mlc.1_Missense_Mutation_p.R959W|KDM6A_uc011mld.1_Missense_Mutation_p.R894W	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1255	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GGCAGTGGAACGGTACGAATG	0.388			D|N|F|S		renal|oesophageal SCC|MM							
SLC9A7	84679	broad.mit.edu	37	X	46618279	46618279	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:46618279C>A	uc004dgu.1	-	1	194	c.186G>T	c.(184-186)GAG>GAT	p.E62D	SLC9A7_uc004dgv.1_Missense_Mutation_p.E62D	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	62					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						TCTCCTCCGCCTCCTTCTCAG	0.682												
NLGN3	54413	broad.mit.edu	37	X	70389350	70389350	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:70389350G>A	uc004dzb.2	+	7	2194	c.1890G>A	c.(1888-1890)CCG>CCA	p.P630P	NLGN3_uc004dzc.2_Silent_p.P513P|NLGN3_uc011mps.1_Silent_p.P610P|NLGN3_uc004dze.2_Silent_p.P448P	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	650	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					TGCCGCCTCCGGATACCACCC	0.587												
GJB1	2705	broad.mit.edu	37	X	70444365	70444365	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:70444365G>A	uc004dzf.3	+	2	903	c.808G>A	c.(808-810)GGG>AGG	p.G270R	BCYRN1_uc011mpt.1_Intron|GJB1_uc004dzg.3_Missense_Mutation_p.G270R	NM_001097642	NP_001091111	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	270	Cytoplasmic (Probable).				cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)	1	Renal(35;0.156)					CCCTGGCACCGGGGCTGGGCT	0.637												
MAGEE1	57692	broad.mit.edu	37	X	75649082	75649082	+	Silent	SNP	T	T	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:75649082T>C	uc004ecm.1	+	1	966	c.759T>C	c.(757-759)GAT>GAC	p.D253D		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	253	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						CCACCCGTGATGAGGGACCGA	0.692												
BRWD3	254065	broad.mit.edu	37	X	79943586	79943586	+	Silent	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:79943586A>G	uc004edt.2	-	34	4109	c.3846T>C	c.(3844-3846)GGT>GGC	p.G1282G	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Silent_p.G878G|BRWD3_uc004edp.2_Silent_p.G1111G|BRWD3_uc004edq.2_Silent_p.G878G|BRWD3_uc010nmj.1_Silent_p.G878G|BRWD3_uc004edr.2_Silent_p.G952G|BRWD3_uc004eds.2_Silent_p.G878G|BRWD3_uc004edu.2_Silent_p.G952G|BRWD3_uc004edv.2_Silent_p.G878G|BRWD3_uc004edw.2_Silent_p.G878G|BRWD3_uc004edx.2_Silent_p.G878G|BRWD3_uc004edy.2_Silent_p.G878G|BRWD3_uc004edz.2_Silent_p.G952G|BRWD3_uc004eea.2_Silent_p.G952G|BRWD3_uc004eeb.2_Silent_p.G878G	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1282										ovary(4)	4						CAGATGAAGTACCAGGACCGT	0.284												
DIAPH2	1730	broad.mit.edu	37	X	96212916	96212916	+	Silent	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:96212916G>A	uc004efu.3	+	16	2100	c.1704G>A	c.(1702-1704)GCG>GCA	p.A568A	DIAPH2_uc004eft.3_Silent_p.A568A	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	568	Poly-Pro.|FH1.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						CACCACCCGCGCCACCTCTAC	0.567												
LUZP4	51213	broad.mit.edu	37	X	114537966	114537966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:114537966C>T	uc004eqa.2	+	3	359	c.325C>T	c.(325-327)CAG>TAG	p.Q109*	LUZP4_uc004eqb.2_Intron	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	109						nucleus				ovary(2)	2						TTTAAATGGGCAGCCTTTAAT	0.328												
MAGEC2	51438	broad.mit.edu	37	X	141290907	141290907	+	Silent	SNP	C	C	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:141290907C>A	uc004fbu.1	-	3	1215	c.867G>T	c.(865-867)GTG>GTT	p.V289V		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	289	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGTGGGGCACCTCCCGAT	0.502										HNSCC(46;0.14)		
FMR1	2332	broad.mit.edu	37	X	147010200	147010200	+	Silent	SNP	A	A	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:147010200A>G	uc010nst.2	+	5	483	c.294A>G	c.(292-294)GCA>GCG	p.A98A	FMR1_uc011mwz.1_Silent_p.A98A|FMR1_uc004fcj.2_Silent_p.A98A|FMR1_uc004fck.3_Silent_p.A98A|FMR1_uc004fcl.3_5'UTR|FMR1_uc011mxa.1_5'Flank	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	98					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					AATATGCAGCATGTGATGCAA	0.313									Fragile_X_syndrome			
ARHGAP4	393	broad.mit.edu	37	X	153173237	153173237	+	Silent	SNP	G	G	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:153173237G>T	uc004fjk.1	-	22	2829	c.2787C>A	c.(2785-2787)GCC>GCA	p.A929A	ARHGAP4_uc004fjj.1_Silent_p.A280A|ARHGAP4_uc011mzf.1_Silent_p.A906A|ARHGAP4_uc004fjl.1_Silent_p.A969A|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	929					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGGGTGAGGCTGGGGCCC	0.716												
CTAG2	30848	broad.mit.edu	37	X	153880628	153880628	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:153880628G>A	uc004fmi.1	-	2	600	c.547C>T	c.(547-549)CCA>TCA	p.P183S	CTAG2_uc004fmh.1_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	cancer/testis antigen 2 isoform LAGE-1b	183	Poly-Pro.					centrosome				pancreas(1)	1	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCGGGCCTGGTGTACCAGGT	0.607												
MYOM3	127294	broad.mit.edu	37	1	24411132	24411132	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:24411131_24411131TA>T	uc001bin.4	-	16	1962	c.1799_splice	c.e16-1	p.A600_splice	MYOM3_uc001bim.4_Splice_Site_p.A257_splice|MYOM3_uc001bio.3_Splice_Site_p.A600_splice|MYOM3_uc001bip.1_Intron	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	600										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		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)		GGAGGGTAGCTAAAAAATAGA	0.542												
NRAS	4893	broad.mit.edu	37	1	115252352	115252352	+	Splice_Site	DEL	A	A	-	rs66918093		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:115252351_115252351TA>T	uc009wgu.3	-	4	545	c.291_splice	c.e4-1	p.R97_splice		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	97					Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCTGCTCCCTAAAAACGGGA	0.443		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)		
ASPM	259266	broad.mit.edu	37	1	197091176	197091176	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:197091175_197091175TA>T	uc001gtu.3	-	16	3999	c.3742_splice	c.e16-1	p.V1248_splice	ASPM_uc001gtv.3_Splice_Site_p.V1248_splice|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1248					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATAACCACCTAAAAAAAACC	0.303												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
SLC35F5	80255	broad.mit.edu	37	2	114480774	114480774	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:114480773_114480773TA>T	uc002tku.1	-	13	1665	c.1251_splice	c.e13-1	p.W417_splice	SLC35F5_uc002tkt.3_Splice_Site|MIR4782_uc021vmz.1_5'Flank	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	417					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AAGCAGCCCCtaaaaaaaaga	0.338												
KCNH7	90134	broad.mit.edu	37	2	163361170	163361170	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:163361169_163361169TA>T	uc002uch.2	-	6	1143	c.914_splice	c.e6-1	p.G305_splice	KCNH7_uc002uci.3_Splice_Site_p.G298_splice	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAAAAGGCCCTAAAAAAATGG	0.373												
GPR125	166647	broad.mit.edu	37	4	22475469	22475469	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:22475468_22475468TA>T	uc003gqm.1	-	2	523	c.258_splice	c.e2-1	p.L86_splice	GPR125_uc003gqo.3_Splice_Site_p.L86_splice	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	86					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCAGAATCCTAAAAAATACC	0.289												
UCP1	7350	broad.mit.edu	37	4	141484368	141484368	+	Splice_Site	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:141484367_141484367TG>T	uc011chj.2	-	4	603	c.527_splice	c.e4-1	p.G176_splice	UCP1_uc011chk.2_Splice_Site_p.G175_splice	NM_021833	NP_068605	P25874	UCP1_HUMAN	Homo sapiens uncoupling protein 1 (mitochondrial, proton carrier) (UCP1), nuclear gene encoding mitochondrial protein, mRNA.	176					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					GAGTAGTCCCTGGGGAAAAAA	0.333												
FBXW7	55294	broad.mit.edu	37	4	153249361	153249361	+	Splice_Site	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:153249360_153249360CT>C	uc003ims.3	-	9	1580	c.1418_splice	c.e9+1	p.R473_splice	FBXW7_uc011cii.2_Splice_Site_p.R473_splice|FBXW7_uc003imt.3_Splice_Site_p.R473_splice|FBXW7_uc011cih.2_Splice_Site_p.R297_splice|FBXW7_uc003imq.3_Splice_Site_p.R393_splice|FBXW7_uc003imr.3_Splice_Site_p.R355_splice	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	473					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R473fs*4(3)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTTCCCTTACCTTTTTTCATG	0.418			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""							
CDC25C	995	broad.mit.edu	37	5	137661596	137661596	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:137661595_137661595TA>T	uc003lcs.1	-	6	804	c.604_splice	c.e6-1	p.A202_splice	CDC25C_uc003lcp.1_Splice_Site_p.A124_splice|CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Splice_Site_p.A124_splice|CDC25C_uc011cyp.1_Splice_Site_p.A141_splice|CDC25C_uc010jet.1_Intron|CDC25C_uc003lct.1_Intron|CDC25C_uc003lcu.1_Splice_Site_p.A81_splice	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	124					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AAGCTGTGCCTAAAAAAGAGA	0.438												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
FAM135B	51059	broad.mit.edu	37	8	139158296	139158296	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:139158295_139158295TA>T	uc003yuy.3	-	15	3620	c.3449_splice	c.e15-1	p.G1150_splice	FAM135B_uc003yux.3_Splice_Site_p.G1051_splice|FAM135B_uc003yuz.3_Splice_Site|FAM135B_uc003yva.3_Splice_Site_p.G712_splice|FAM135B_uc003yvb.3_Splice_Site_p.W677_splice	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1150										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	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)			CACTGTTCCCTAAAAATGACA	0.448										HNSCC(54;0.14)		
C9orf11	54586	broad.mit.edu	37	9	27296739	27296739	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	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												
IPPK	64768	broad.mit.edu	37	9	95396773	95396775	+	Splice_Site	DEL	GAA	GAA	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:95396772_95396774TGAA>T	uc004asl.1	-	11	1345	c.1068_splice	c.e11-1	p.R356_splice	IPPK_uc004ask.1_Splice_Site_p.R55_splice	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	356					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						AAGGTTTTTCTGAAGAAGAAAGC	0.443											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C9orf80	58493	broad.mit.edu	37	9	115456516	115456517	+	Splice_Site	INS	-	-	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:115456515_115456516T>TA	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGAG	0.347												
DNAJC9	23234	broad.mit.edu	37	10	75003276	75003277	+	Splice_Site	DEL	CT	CT	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:75003275_75003276GCT>G	uc001jtr.3	-	5	979	c.664_splice	c.e5-1	p.S222_splice	DNAJC9_uc010qkg.2_Splice_Site_p.S222_splice	NM_015190	NP_056005	Q8WXX5	DNJC9_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 9 (DNAJC9), mRNA.	222					protein folding		heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					CCTTTTGTCTGCTCTGTTTGAG	0.411												
DGKZ	8525	broad.mit.edu	37	11	46400753	46400754	+	Splice_Site	INS	-	-	C	rs3832759		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:46400752_46400753G>GC	uc001ncn.1	+	30	3229	c.3104_splice	c.e30-1	p.A1035_splice	DGKZ_uc001nch.2_Splice_Site_p.A863_splice|DGKZ_uc010rgr.2_Splice_Site_p.A851_splice|DGKZ_uc001ncj.2_Splice_Site_p.A813_splice|DGKZ_uc001nck.2_Splice_Site_p.A625_splice|DGKZ_uc001ncm.2_Splice_Site_p.A846_splice|DGKZ_uc001ncl.2_Splice_Site_p.A847_splice|DGKZ_uc009yky.1_Splice_Site_p.A847_splice|DGKZ_uc010rgs.1_Splice_Site_p.A824_splice|MDK_uc009ykz.1_5'Flank|MDK_uc001nco.3_5'Flank|MDK_uc001ncp.3_5'Flank|MDK_uc009yla.3_5'Flank|MDK_uc009ylb.3_5'Flank|MDK_uc001ncq.3_5'Flank	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	1035					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCCTTCTCCAGCCCCCCCAGAG	0.649												
ATL3	25923	broad.mit.edu	37	11	63420050	63420050	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373												
ZC3H7A	29066	broad.mit.edu	37	16	11873222	11873222	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:11873221_11873221TA>T	uc002dbk.3	-	3	307	c.109_splice	c.e3-1	p.V37_splice	ZC3H7A_uc002dbl.3_Splice_Site_p.V37_splice|ZC3H7A_uc002dbm.2_Splice_Site_p.V37_splice	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	37						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CAAATATACCTAAAAAAAAGA	0.338												
MAP2K2	5605	broad.mit.edu	37	19	4117626	4117627	+	Splice_Site	INS	-	-	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:4117625_4117626G>GC	uc002lzk.3	-	2	347	c.93_splice	c.e2-1	p.E31_splice		NM_030662	NP_109587	P36507	MP2K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 2 (MAP2K2), mRNA.	31					ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAGGTTTGCCCTGCAGAGA	0.604												
SIN3B	23309	broad.mit.edu	37	19	16963880	16963880	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:16963879_16963879GA>G	uc002ney.2	+	7	873	c.850_splice	c.e7-1	p.K284_splice	SIN3B_uc002new.3_Splice_Site_p.K284_splice|SIN3B_uc002nez.2_Splice_Site_p.K284_splice	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	284	Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCTCCCCACAGAAAAAAATGA	0.507												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
DNAJC8	22826	broad.mit.edu	37	1	28534906	28534907	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:28534906_28534907insT	uc001bpn.2	-	6	450_451	c.417_418insA	c.(415-420)AAACAAfs	p.K139fs	DNAJC8_uc001bpo.2_RNA	NM_014280	NP_055095	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	139_140					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTTAATTGTTTTTTTCGCT	0.351												
ODF2L	57489	broad.mit.edu	37	1	86824479	86824480	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:86824479_86824480insT	uc001dll.1	-	13	1689_1690	c.1349_1350insA	c.(1348-1350)AATfs	p.N450fs	ODF2L_uc001dlm.1_Frame_Shift_Ins_p.N421fs|ODF2L_uc001dln.2_Frame_Shift_Ins_p.N421fs|ODF2L_uc001dlo.2_Frame_Shift_Ins_p.N290fs|ODF2L_uc001dlp.2_Frame_Shift_Ins_p.N450fs|ODF2L_uc010osg.1_Frame_Shift_Ins_p.N421fs|ODF2L_uc001dlq.1_Frame_Shift_Ins_p.N251fs	NM_020729	NP_065780	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like isoform	450	Potential.					centrosome				ovary(1)	1				all cancers(265;0.0313)|Epithelial(280;0.0611)		CCTTCTCTACATTTTTATTTTT	0.248												
NUDT13	25961	broad.mit.edu	37	10	74879812	74879813	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:74879812_74879813insA	uc001jtj.2	+	3	245_246	c.120_121insA	c.(118-123)TGTAAAfs	p.C40fs	NUDT13_uc010qkc.1_5'UTR|NUDT13_uc010qkd.1_5'UTR|NUDT13_uc009xqw.2_RNA|NUDT13_uc001jtk.2_Frame_Shift_Ins_p.C40fs|NUDT13_uc010qke.1_5'UTR|NUDT13_uc001jtl.2_Frame_Shift_Ins_p.C40fs	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	nudix-type motif 13	40_41							hydrolase activity|metal ion binding				0	Prostate(51;0.0119)					ATGATGCATGTAAAAAAGCCCA	0.426												
EIF3J	8669	broad.mit.edu	37	15	44829562	44829562	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:44829562delG	uc001ztv.2	+	2	211	c.84delG	c.(82-84)GTGfs	p.V28fs	uc001ztu.2_5'Flank|EIF3J_uc010ueg.1_Frame_Shift_Del_p.V28fs|EIF3J_uc001ztw.2_Frame_Shift_Del_p.V28fs	NM_003758	NP_003749	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3,	28	Sufficient for interaction with EIF3B.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		TGCGGAAGGTGGGGGGCGGCG	0.637												
GPR139	124274	broad.mit.edu	37	16	20043389	20043389	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:20043389delG	uc002dgu.1	-	2	892	c.730delC	c.(730-732)CGCfs	p.R244fs	GPR139_uc010vaw.1_Frame_Shift_Del_p.R151fs	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	244	Helical; Name=6; (Potential).					integral to membrane|plasma membrane				ovary(2)	2						ATGATGATGCGGGGGGCCCAA	0.542												
TRPV3	162514	broad.mit.edu	37	17	3421945	3421947	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:3421945_3421947delGAG	uc002fvt.1	-	15	2330_2332	c.2008_2010delCTC	c.(2008-2010)CTCdel	p.L670del	TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_In_Frame_Del_p.L654del|TRPV3_uc010vri.1_In_Frame_Del_p.L625del|TRPV3_uc010vrj.1_In_Frame_Del_p.L654del|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_In_Frame_Del_p.L654del|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_In_Frame_Del_p.L670del|TRPV3_uc002fvu.2_In_Frame_Del_p.L670del|TRPV3_uc010vrn.1_3'UTR	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	670	Helical; (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)	TGAGCATGTTGAGGAGGAGAACA	0.547												
ACTN4	81	broad.mit.edu	37	19	39219950	39219950	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:39219950delC	uc002oja.1	+	21	2673	c.2614delC	c.(2614-2616)CCCfs	p.P872fs	ACTN4_uc002ojb.1_Frame_Shift_Del_p.P194fs	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	872					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGAGAGCTGCCCCCCGACCA	0.672												
INO80D	54891	broad.mit.edu	37	2	206882406	206882406	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:206882406delT	uc002vaz.3	-	8	1945	c.1540delA	c.(1540-1542)ATGfs	p.M514fs		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	514					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						GAACTTACCATTTTTTTGGCA	0.254												
ZNF295	49854	broad.mit.edu	37	21	43413028	43413028	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:43413028delT	uc002zab.3	-	3	1391	c.1177delA	c.(1177-1179)ACAfs	p.T393fs	ZNF295_uc002yzz.3_Frame_Shift_Del_p.T393fs|ZNF295_uc002yzy.3_Frame_Shift_Del_p.T393fs|ZNF295_uc002zaa.3_Frame_Shift_Del_p.T393fs|ZNF295_uc010gov.1_Frame_Shift_Del_p.T393fs|ZNF295_uc002zac.2_Frame_Shift_Del_p.T393fs	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	393					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TCTAGGGCTGTTTTTTCACTA	0.483												
RRP7A	27341	broad.mit.edu	37	22	42911183	42911184	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:42911183_42911184delCT	uc003bcq.2	-	4	449_450	c.433_434delAG	c.(433-435)AGCfs	p.S145fs	SERHL_uc011apm.1_Intron|RRP7A_uc003bcp.2_Frame_Shift_Del_p.S168fs	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A	145							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2						CACAGGGTGGCTCTCTGTGGAC	0.604												
PHF3	23469	broad.mit.edu	37	6	64415953	64415953	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:64415953delA	uc003pep.1	+	11	3428	c.3402delA	c.(3400-3402)CCAfs	p.P1134fs	PHF3_uc010kah.1_Frame_Shift_Del_p.P948fs|PHF3_uc003pen.2_Frame_Shift_Del_p.P1046fs|PHF3_uc011dxs.1_Frame_Shift_Del_p.P403fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1134					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)			ATCTTTCTCCAAAAAAAGTAA	0.358												
HOXA2	3199	broad.mit.edu	37	7	27142045	27142045	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:27142045delA	uc003syh.2	-	1	350	c.75delT	c.(73-75)TTTfs	p.F25fs		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	25						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CGACAGGGGGAAAAGATGTCA	0.498												
COG5	10466	broad.mit.edu	37	7	107198542	107198542	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:107198542delA	uc003ved.2	-	2	731	c.206delT	c.(205-207)TTAfs	p.L69fs	COG5_uc003vec.2_Frame_Shift_Del_p.L69fs|COG5_uc003vee.2_Frame_Shift_Del_p.L69fs	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	69					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						GTCTTCGTTTAAAAAGTCACT	0.333												
CFTR	1080	broad.mit.edu	37	7	117292906	117292906	+	Frame_Shift_Del	DEL	T	T	-	rs121908808		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:117292906delT	uc003vjd.2	+	24	4016	c.3884delT	c.(3883-3885)ATTfs	p.I1295fs	CFTR_uc011knq.1_Frame_Shift_Del_p.I701fs	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1295	Cytoplasmic (Potential).|ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAAGTATTTATTTTTTCTGGA	0.284									Cystic_Fibrosis			
ABP1	26	broad.mit.edu	37	7	150557592	150557592	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:150557592delC	uc003why.1	+	5	6078	c.1860delC	c.(1858-1860)TACfs	p.Y620fs	ABP1_uc003whz.1_Frame_Shift_Del_p.Y620fs|ABP1_uc003wia.1_Frame_Shift_Del_p.Y639fs	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	620					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CTGGCAGGTACCCCCTGGCAG	0.607												
LMBR1	64327	broad.mit.edu	37	7	156589160	156589160	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:156589160delA	uc003wmw.3	-	5	561	c.346delT	c.(346-348)TCCfs	p.S116fs	LMBR1_uc003wmv.3_5'UTR|LMBR1_uc003wmx.3_5'UTR|LMBR1_uc010lqn.2_Frame_Shift_Del_p.S116fs|LMBR1_uc011kvx.1_Frame_Shift_Del_p.S95fs	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	limb region 1 protein	116	Helical; (Potential).					integral to membrane	receptor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CAAAGGTTGGAAAAAAGGGAA	0.338												
UBQLN2	29978	broad.mit.edu	37	X	56591874	56591874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:56591874delC	uc004dus.2	+	1	1803	c.1568delC	c.(1567-1569)GCCfs	p.A523fs	UBQLN2_uc011moq.1_Intron	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	523	11.|12 X 3 AA tandem repeats of P-X-X.					cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						GGCCCTGCAGCCCCCCCTGGC	0.642												
ZNF280C	55609	broad.mit.edu	37	X	129349216	129349216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:129349216delA	uc004evm.2	-	15	2084	c.1930delT	c.(1930-1932)TGCfs	p.C644fs	ZNF280C_uc010nrf.1_Frame_Shift_Del_p.C595fs	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						TTGTACTTGCAAAAACTGCAG	0.353												
USP9Y	8287	broad.mit.edu	37	Y	14847975	14847975	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrY:14847975delA	uc004fst.1	+	9	1762	c.817delA	c.(817-819)AAAfs	p.K273fs	USP9Y_uc010nwu.1_RNA	NM_004654	NP_004645	O00507	USP9Y_HUMAN	ubiquitin specific protease 9, Y-linked	273					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						ACATACACTGAAAAAGTACTT	0.323												
MYOM3	127294	broad.mit.edu	37	1	24411132	24411132	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:24411131_24411131TA>T	uc001bin.4	-	16	1962	c.1799_splice	c.e16-1	p.A600_splice	MYOM3_uc001bim.4_Splice_Site_p.A257_splice|MYOM3_uc001bio.3_Splice_Site_p.A600_splice|MYOM3_uc001bip.1_Intron	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	600										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		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)		GGAGGGTAGCTAAAAAATAGA	0.542												
ARID1A	8289	broad.mit.edu	37	1	27097622	27097622	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:27097621_27097621CA>C	uc001bmv.1	+	11	3583	c.3210_3210CA>C	c.(3208-3210)aacfs	p.N1070fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.N1070fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.N1070fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.N687fs|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1070	ARID.				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		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)		TCAACAAGAACAAAAAATGGC	0.483			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
DNAJC8	22826	broad.mit.edu	37	1	28534907	28534908	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:28534906_28534907G>GT	uc001bpn.3	-	5	450_451	c.417_418C>AC	c.(415-420)aaacaafs	p.K139fs	DNAJC8_uc001bpo.3_Non-coding_Transcript	NM_014280	NP_055095	O75937	DNJC8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 8 (DNAJC8), mRNA.	139					nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTTAATTGTTTTTTTCGCT	0.351												
YTHDF2	51441	broad.mit.edu	37	1	29064825	29064828	+	Frame_Shift_Del	DEL	CTTA	CTTA	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:29064824_29064827CCTTA>C	uc021okf.1	+	3	369_372	c.106_109CCTTA>C	c.(106-111)ccttacfs	p.P36fs	YTHDF2_uc001brc.3_Frame_Shift_Del_p.P36fs|YTHDF2_uc010ofx.2_5'UTR|YTHDF2_uc001bre.3_5'UTR	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	36					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TGATTTTGAACCTTACTTGAGTCC	0.363												
PUM1	9698	broad.mit.edu	37	1	31532098	31532100	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:31532097_31532099CTAT>C	uc001bsi.1	-	1	428_430	c.315_317ATAG>G	c.(313-318)aatagc>aaGc	p.105_106NS>K	PUM1_uc001bsh.1_In_Frame_Del_p.105_106NS>K|PUM1_uc001bsj.1_In_Frame_Del_p.105_106NS>K|PUM1_uc010oga.1_In_Frame_Del_p.105_106NS>K|PUM1_uc001bsk.1_In_Frame_Del_p.141_142NS>K|PUM1_uc010ogb.1_In_Frame_Del_p.141_142NS>K	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	105					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TCGATGTTTGCTATTATTATAGC	0.468												
ZBTB8A	653121	broad.mit.edu	37	1	33059154	33059154	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:33059153_33059153TA>T	uc001bvn.3	+	2	1106	c.621_621TA>T	c.(619-621)attfs	p.I207fs	ZBTB8A_uc001bvk.3_Non-coding_Transcript|ZBTB8A_uc001bvm.3_Frame_Shift_Del_p.I207fs	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	Homo sapiens zinc finger and BTB domain containing 8A (ZBTB8A), mRNA.	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AAGAGTCCATTAAAAAGACCA	0.378												
IFI44	10561	broad.mit.edu	37	1	79129487	79129487	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:79129486_79129486GA>G	uc001dip.4	+	8	1449	c.1325_1325GA>G	c.(1324-1326)ggafs	p.G442fs		NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN	Homo sapiens interferon-induced protein 44 (IFI44), mRNA.	442					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGTGCACAAGGAAAAAAATAG	0.358												
ODF2L	57489	broad.mit.edu	37	1	86824480	86824481	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:86824479_86824480A>AT	uc001dll.2	-	12	1711_1712	c.1349_1350T>AT	c.(1348-1350)aatfs	p.N450fs	ODF2L_uc001dlp.3_Frame_Shift_Ins_p.N450fs|ODF2L_uc010osg.2_Frame_Shift_Ins_p.N421fs|ODF2L_uc001dlm.2_Frame_Shift_Ins_p.N421fs|ODF2L_uc021opg.1_Frame_Shift_Ins_p.N290fs|ODF2L_uc001dlq.2_Frame_Shift_Ins_p.N251fs	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	450						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CCTTCTCTACATTTTTATTTTT	0.248												
FRRS1	391059	broad.mit.edu	37	1	100207793	100207793	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:100207792_100207792GT>G	uc001dsh.1	-	4	973	c.371_371AC>C	c.(370-372)acafs	p.T124fs		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	124	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TTTAATTTCTGTTTTTTTAGA	0.428												
COL11A1	1301	broad.mit.edu	37	1	103474067	103474067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:103474066_103474066GC>G	uc001dum.3	-	14	1990	c.1672_1672GC>C	c.(1672-1674)cctfs	p.P558fs	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Frame_Shift_Del_p.P546fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.P507fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.P430fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	546	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			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		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)		GATGAACCAGGCCCCCCCTAT	0.368												
NRAS	4893	broad.mit.edu	37	1	115252352	115252352	+	Splice_Site	DEL	A	A	-	rs66918093		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:115252351_115252351TA>T	uc009wgu.3	-	4	545	c.291_splice	c.e4-1	p.R97_splice		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	97					Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCTGCTCCCTAAAAACGGGA	0.443		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)		
SYCP1	6847	broad.mit.edu	37	1	115399254	115399254	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:115399253_115399253CA>C	uc001efr.3	+	2	377	c.168_168CA>C	c.(166-168)tccfs	p.S56fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Del_p.S56fs|SYCP1_uc009wgw.3_Frame_Shift_Del_p.S56fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	56	Asp/Glu-rich (acidic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		CTAATCTCTCCAAAAATGGGG	0.328												
GPATCH4	54865	broad.mit.edu	37	1	156565504	156565504	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	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												
GPA33	10223	broad.mit.edu	37	1	167023647	167023648	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:167023646_167023647C>CCT	uc001gea.1	-	6	1228_1229	c.884_885G>AGG	c.(883-885)aggfs	p.R295fs		NM_005814	NP_005805	Q99795	GPA33_HUMAN	Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA.	295						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCTCCTCCTCCCTCTCTCTGGA	0.609												
ATP2B4	493	broad.mit.edu	37	1	203690406	203690407	+	Frame_Shift_Ins	INS	-	-	C	rs77789819	by1000genomes	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:203690405_203690406G>GC	uc001gzw.3	+	16	3576_3577	c.2679_2680G>GC	c.(2677-2682)gagcccfs	p.E893fs	ATP2B4_uc001gzv.3_Frame_Shift_Ins_p.E893fs|ATP2B4_uc009xaq.3_Frame_Shift_Ins_p.E893fs|ATP2B4_uc001gzx.3_5'Flank|ATP2B4_uc009xar.3_5'Flank	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	893					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGGCCACAGAGCCCCCTACGGA	0.515												
NUAK2	81788	broad.mit.edu	37	1	205273141	205273141	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:205273140_205273140AG>A	uc001hce.3	-	6	1452	c.1325_1325CT>T	c.(1324-1326)ctgfs	p.L442fs		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	442					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTTGGGGAGCAGGGGGGCAGC	0.632												
CTSE	1510	broad.mit.edu	37	1	206328844	206328844	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:206328843_206328843GC>G	uc001hdu.3	+	6	1028	c.910_910GC>G	c.(910-912)gccfs	p.A304fs	CTSE_uc001hdv.3_Intron|CTSE_uc010prs.2_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	309					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CATTGGGGCAGCCCCCGTGGA	0.607												
KCNH1	3756	broad.mit.edu	37	1	210857408	210857408	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:210857407_210857407AG>A	uc001hib.2	-	10	2356	c.2186_2186CT>T	c.(2185-2187)ctgfs	p.L729fs	KCNH1_uc001hic.2_Frame_Shift_Del_p.L702fs	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	729	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGGCAAGATCAGGGGGGCCTC	0.572												
RYR2	6262	broad.mit.edu	37	1	237765356	237765356	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr1:237765355_237765355GT>G	uc001hyl.1	+	34	4747	c.4627_4627GT>G	c.(4627-4629)gttfs	p.V1543fs		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1543	4 X approximate repeats.|B30.2/SPRY 3.				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			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	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)			ATTTCCTGCGGTTTTTGCACA	0.294												
ACP1	52	broad.mit.edu	37	2	277054	277054	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:277053_277053CA>C	uc002qwf.3	+	4	463	c.367_367CA>C	c.(367-369)caafs	p.Q123fs	ACP1_uc002qwg.3_Frame_Shift_Del_p.Q123fs|ACP1_uc002qwh.3_Non-coding_Transcript	NM_004300	NP_004291	P24666	PPAC_HUMAN	Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.	123						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		CTATGATCCACAAAAACAACT	0.303												
NRXN1	9378	broad.mit.edu	37	2	50765683	50765683	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:50765682_50765682GC>G	uc021vhh.1	-	8	2773	c.1852_1852GC>C	c.(1852-1854)ctgfs	p.L618fs	NRXN1_uc002rxb.4_Frame_Shift_Del_p.L290fs|NRXN1_uc021vhg.1_Frame_Shift_Del_p.L658fs|NRXN1_uc021vhi.1_Frame_Shift_Del_p.L654fs|NRXN1_uc021vhj.1_Frame_Shift_Del_p.L614fs|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	618	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTTTCTGGCAGCCCCCCCAGG	0.522												
UGP2	7360	broad.mit.edu	37	2	64111166	64111166	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:64111165_64111165CA>C	uc010ypx.2	+	4	547	c.540_540CA>C	c.(538-540)accfs	p.T180fs	UGP2_uc002scl.3_Frame_Shift_Del_p.T160fs|UGP2_uc002scm.3_Frame_Shift_Del_p.T171fs	NM_001001521	NP_001001521	Q16851	UGPA_HUMAN	Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA.	171					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process	cytosol	UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ATGAAGATACCAAAAAAATAC	0.323												
TGFBRAP1	9392	broad.mit.edu	37	2	105924404	105924404	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:105924403_105924403GC>G	uc002tcq.3	-	1	440	c.356_356GC>C	c.(355-357)gcafs	p.A119fs	TGFBRAP1_uc002tcr.4_Frame_Shift_Del_p.A119fs	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	119	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AAACGTGGCTGCCCCCTTGAT	0.557												
ZC3H6	376940	broad.mit.edu	37	2	113067707	113067707	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:113067706_113067706GA>G	uc002thq.1	+	3	975	c.581_581GA>G	c.(580-582)ggafs	p.G194fs		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	194							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAAGAATCAGGAAAAAAACAG	0.358												
SLC35F5	80255	broad.mit.edu	37	2	114480774	114480774	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:114480773_114480773TA>T	uc002tku.1	-	13	1665	c.1251_splice	c.e13-1	p.W417_splice	SLC35F5_uc002tkt.3_Splice_Site|MIR4782_uc021vmz.1_5'Flank	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	417					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AAGCAGCCCCtaaaaaaaaga	0.338												
SAP130	79595	broad.mit.edu	37	2	128774050	128774050	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:128774049_128774049TG>T	uc010fmd.2	-	3	631	c.499_499CA>A	c.(499-501)aagfs	p.K167fs	SAP130_uc002tpp.2_Frame_Shift_Del_p.K167fs|SAP130_uc002tpq.1_Frame_Shift_Del_p.K141fs	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	167	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGT	0.532												
KCNH7	90134	broad.mit.edu	37	2	163361170	163361170	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:163361169_163361169TA>T	uc002uch.2	-	6	1143	c.914_splice	c.e6-1	p.G305_splice	KCNH7_uc002uci.3_Splice_Site_p.G298_splice	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TAAAAGGCCCTAAAAAAATGG	0.373												
SCN1A	6323	broad.mit.edu	37	2	166894567	166894567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:166894566_166894566GC>G	uc002udo.4	-	16	2893	c.2666_2666GC>C	c.(2665-2667)gctfs	p.A889fs	SCN1A_uc010fpk.3_Frame_Shift_Del_p.A861fs|SCN1A_uc021vsb.1_Frame_Shift_Del_p.A878fs	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	889						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I889I(1)		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)	ATTTCCCAGAGCCCCCACGGA	0.423												
TTN	7273	broad.mit.edu	37	2	179635029	179635029	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:179635028_179635028CT>C	uc021vsy.1	-	35	8625	c.8400_8400AG>G	c.(8398-8400)aagfs	p.K2800fs	TTN_uc021vsz.1_Frame_Shift_Del_p.K2754fs|TTN_uc021vta.1_Frame_Shift_Del_p.K2754fs|TTN_uc021vtb.1_Frame_Shift_Del_p.K2754fs|TTN_uc002unb.2_Frame_Shift_Del_p.K2800fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2800							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCCTTTGGCTTTTTAATGA	0.398												
ERBB4	2066	broad.mit.edu	37	2	212570111	212570111	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:212570110_212570110AG>A	uc002veg.1	-	9	1229	c.1131_1131CT>T	c.(1129-1131)cctfs	p.P377fs	ERBB4_uc002veh.1_Frame_Shift_Del_p.P377fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.P377fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.P377fs|ERBB4_uc010fut.1_Frame_Shift_Del_p.P377fs	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	377					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTGCATTGTAAGGGTCCCTAG	0.323										TSP Lung(8;0.080)		
CCDC108	255101	broad.mit.edu	37	2	219883883	219883883	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:219883882_219883882CG>C	uc002vjl.1	-	20	3577	c.3493_3493CG>G	c.(3493-3495)gtcfs	p.V1165fs	CCDC108_uc002vjm.3_Frame_Shift_Del_p.V50fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1165						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGTGAGGACGGGGGGGATC	0.612												
CCDC108	255101	broad.mit.edu	37	2	219892687	219892687	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr2:219892686_219892686TG>T	uc002vjl.1	-	12	1981	c.1897_1897CA>A	c.(1897-1899)atgfs	p.M633fs	CCDC108_uc010fwa.1_Frame_Shift_Del_p.M76fs|CCDC108_uc010zkp.1_Frame_Shift_Del_p.M622fs|CCDC108_uc010zkq.1_Frame_Shift_Del_p.M568fs	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	633						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACTCGGTCATGGGGGGGATA	0.597												
EOMES	8320	broad.mit.edu	37	3	27761703	27761703	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:27761702_27761702GC>G	uc003cdy.3	-	1	996	c.996_996GC>C	c.(994-996)ggcfs	p.G332fs	EOMES_uc003cdx.3_Frame_Shift_Del_p.G332fs|EOMES_uc010hfn.2_Frame_Shift_Del_p.G332fs|EOMES_uc011axc.1_Frame_Shift_Del_p.G37fs	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	332					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TCACCCATTTGCCCCCCTGGA	0.577												
NKTR	4820	broad.mit.edu	37	3	42659102	42659102	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:42659101_42659101CA>C	uc003clo.3	+	2	245	c.98_98CA>C	c.(97-99)ccafs	p.P33fs	NKTR_uc003cll.1_Frame_Shift_Del_p.P33fs|NKTR_uc003clm.1_5'UTR|NKTR_uc011azp.2_5'UTR|NKTR_uc003clp.3_5'UTR|NKTR_uc003clq.1_5'Flank	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	33	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GACATATGTCCAAAAACATGC	0.333												
CDCP1	64866	broad.mit.edu	37	3	45127479	45127480	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:45127478_45127479C>CT	uc003com.3	-	8	2297_2298	c.2162_2163G>AG	c.(2161-2163)aagfs	p.K721fs		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	721						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTTTCTGAAACTTTTTTGGCTG	0.470												
IP6K2	51447	broad.mit.edu	37	3	48730461	48730461	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:48730460_48730460GT>G	uc003cuq.3	-	2	816	c.355_355AC>C	c.(355-357)catfs	p.H119fs	IP6K2_uc003cup.3_Frame_Shift_Del_p.H119fs	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	119					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.H119H(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						AAGACATGATGTTTTTTGTTT	0.433												
VPRBP	9730	broad.mit.edu	37	3	51457448	51457448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:51457447_51457447GT>G	uc003dbe.2	-	13	3003	c.2818_2818AC>C	c.(2818-2820)cagfs	p.Q940fs	VPRBP_uc021wys.1_Frame_Shift_Del_p.Q939fs|VPRBP_uc003dbf.1_Frame_Shift_Del_p.Q269fs	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	993					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTGTCCAGCTGTTTTTTTATG	0.502												
PBRM1	55193	broad.mit.edu	37	3	52651438	52651438	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:52651437_52651437CT>C	uc003des.2	-	13	1671	c.1659_1659AG>G	c.(1657-1659)aagfs	p.K553fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.K553fs|PBRM1_uc003der.2_Frame_Shift_Del_p.K521fs|PBRM1_uc003det.2_Frame_Shift_Del_p.K568fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.K568fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.K553fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.K553fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.K553fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.K553fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.K466fs|PBRM1_uc003dfc.3_5'Flank	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	553	Bromo 4.			K -> R (in Ref. 1; AAG34760).	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.K553*(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)		CAGGATAGTCCTTTTTGGATG	0.378			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""							
PBRM1	55193	broad.mit.edu	37	3	52682389	52682390	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:52682388_52682389TAA>T	uc003des.2	-	6	796_797	c.784_785TTA>A	c.(784-786)tatfs	p.Y262fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.Y262fs|PBRM1_uc003der.2_Frame_Shift_Del_p.Y262fs|PBRM1_uc003det.2_Frame_Shift_Del_p.Y262fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.Y262fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.Y262fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.Y262fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.Y262fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.Y262fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.Y160fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	262	Bromo 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGGCTCATTATAAGTTTTGGCA	0.322			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""							
ROBO2	6092	broad.mit.edu	37	3	77657038	77657039	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:77657037_77657038T>TC	uc011bgk.2	+	21	3880_3881	c.3237_3238T>TC	c.(3235-3240)cctcccfs	p.P1079fs	ROBO2_uc021xat.1_Frame_Shift_Ins_p.P1091fs|ROBO2_uc003dpy.4_Frame_Shift_Ins_p.P1075fs|ROBO2_uc003dpz.3_Frame_Shift_Ins_p.P1079fs|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Frame_Shift_Ins_p.P202fs	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1075					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.V1079fs*22(2)|p.V1095fs*22(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCTCTACCTCCCCCCCCAGT	0.431												
BOC	91653	broad.mit.edu	37	3	112991288	112991288	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:112991287_112991287AC>A	uc003dzx.3	+	6	1319	c.698_698AC>A	c.(697-699)tacfs	p.Y233fs	BOC_uc003dzy.3_Frame_Shift_Del_p.Y233fs|BOC_uc003dzz.3_Frame_Shift_Del_p.Y233fs|BOC_uc003eab.3_5'UTR	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	233					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CGCATCATCTACCCCCCAGAG	0.627												
TOPBP1	11073	broad.mit.edu	37	3	133329880	133329880	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr3:133329879_133329879AT>A	uc003eps.3	-	24	4274	c.4142_4142AT>T	c.(4141-4143)atcfs	p.I1381fs		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	1381					DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCTTTGCTGGATTTTTTTTCT	0.343								Other conserved DNA damage response genes				
GPR125	166647	broad.mit.edu	37	4	22475469	22475469	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:22475468_22475468TA>T	uc003gqm.1	-	2	523	c.258_splice	c.e2-1	p.L86_splice	GPR125_uc003gqo.3_Splice_Site_p.L86_splice	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	86					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCAGAATCCTAAAAAATACC	0.289												
UGT2B10	7365	broad.mit.edu	37	4	69693142	69693142	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:69693141_69693141GT>G	uc003hee.3	+	4	1207	c.1182_1182GT>G	c.(1180-1182)ttgfs	p.L394fs	UGT2B10_uc011cam.2_Frame_Shift_Del_p.L310fs	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	394					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.P393S(1)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCATTCCATTGTTTTTTGATC	0.453												
COPS4	51138	broad.mit.edu	37	4	83966796	83966796	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:83966795_83966795GA>G	uc003hoa.3	+	1	230	c.91_91GA>G	c.(91-93)gaafs	p.E31fs	COPS4_uc010ijx.3_Frame_Shift_Del_p.E31fs	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) (COPS4), mRNA.	31					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TCAGATCCTGGAAAAAGCCAT	0.338												
TSPAN5	10098	broad.mit.edu	37	4	99399941	99399941	+	Frame_Shift_Del	DEL	A	A	-	rs75275295		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:99399940_99399940CA>C	uc003hub.3	-	4	907	c.472_472TG>G	c.(472-474)ggafs	p.G158fs	TSPAN5_uc011cdz.2_Frame_Shift_Del_p.G87fs	NM_005723	NP_005714	P62079	TSN5_HUMAN	Homo sapiens tetraspanin 5 (TSPAN5), mRNA.	158						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TCATCAGCTCCAAAAGCCCCA	0.483												
ARSJ	79642	broad.mit.edu	37	4	114823938	114823938	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:114823937_114823937AT>A	uc003ibq.1	-	1	2181	c.1293_1293AT>T	c.(1291-1293)aatfs	p.N431fs	ARSJ_uc010imu.1_Frame_Shift_Del_p.N431fs|ARSJ_uc010imv.1_Frame_Shift_Del_p.N259fs	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	431						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCCAGGAGCCATTTTTTGCCT	0.488												
UCP1	7350	broad.mit.edu	37	4	141484368	141484368	+	Splice_Site	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:141484367_141484367TG>T	uc011chj.2	-	4	603	c.527_splice	c.e4-1	p.G176_splice	UCP1_uc011chk.2_Splice_Site_p.G175_splice	NM_021833	NP_068605	P25874	UCP1_HUMAN	Homo sapiens uncoupling protein 1 (mitochondrial, proton carrier) (UCP1), nuclear gene encoding mitochondrial protein, mRNA.	176					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					GAGTAGTCCCTGGGGAAAAAA	0.333												
FBXW7	55294	broad.mit.edu	37	4	153249361	153249361	+	Splice_Site	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr4:153249360_153249360CT>C	uc003ims.3	-	9	1580	c.1418_splice	c.e9+1	p.R473_splice	FBXW7_uc011cii.2_Splice_Site_p.R473_splice|FBXW7_uc003imt.3_Splice_Site_p.R473_splice|FBXW7_uc011cih.2_Splice_Site_p.R297_splice|FBXW7_uc003imq.3_Splice_Site_p.R393_splice|FBXW7_uc003imr.3_Splice_Site_p.R355_splice	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	473					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R473fs*4(3)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTTCCCTTACCTTTTTTCATG	0.418			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""							
SLC12A7	10723	broad.mit.edu	37	5	1074698	1074698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:1074697_1074697TG>T	uc003jbu.3	-	15	2123	c.2057_2057CA>A	c.(2056-2058)cacfs	p.H686fs		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	686					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTTCTTGGTGTGGGGGGGACC	0.647												
C5orf42	65250	broad.mit.edu	37	5	37162611	37162611	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:37162610_37162610CT>C	uc011cpa.1	-	37	7878	c.7647_7647AG>G	c.(7645-7647)aagfs	p.K2549fs	C5orf42_uc011coy.1_Frame_Shift_Del_p.K1049fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Del_p.K1624fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2549										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)			CTATAGCTTTCTTTTTTACAG	0.289												
CENPH	64946	broad.mit.edu	37	5	68504111	68504112	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:68504110_68504111CAG>C	uc003jvp.3	+	7	662_663	c.575_576CAG>C	c.(574-576)tcafs	p.S192fs	CENPH_uc010ixc.3_Frame_Shift_Del_p.S173fs	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	Homo sapiens centromere protein H (CENPH), mRNA.	192					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		ATGGAAAACTCAGAGAGGATAA	0.312												
CDC25C	995	broad.mit.edu	37	5	137661596	137661596	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:137661595_137661595TA>T	uc003lcs.1	-	6	804	c.604_splice	c.e6-1	p.A202_splice	CDC25C_uc003lcp.1_Splice_Site_p.A124_splice|CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Splice_Site_p.A124_splice|CDC25C_uc011cyp.1_Splice_Site_p.A141_splice|CDC25C_uc010jet.1_Intron|CDC25C_uc003lct.1_Intron|CDC25C_uc003lcu.1_Splice_Site_p.A81_splice	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	124					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AAGCTGTGCCTAAAAAAGAGA	0.438												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
PCDHGC5	56097	broad.mit.edu	37	5	140857728	140857728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:140857727_140857727GC>G	uc003lkv.2	+	0	2159	c.2044_2044GC>G	c.(2044-2046)gccfs	p.A682fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Frame_Shift_Del_p.A682fs|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	682					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGCTCTGCCCCCCGGGA	0.512											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FGF1	2246	broad.mit.edu	37	5	141993589	141993589	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:141993588_141993588GC>G	uc003lmm.3	-	1	185	c.105_105GC>C	c.(103-105)ggcfs	p.G35fs	FGF1_uc011dbi.2_Frame_Shift_Del_p.G35fs|FGF1_uc003lmn.4_Frame_Shift_Del_p.G35fs|FGF1_uc003lmp.4_Frame_Shift_Del_p.G35fs|FGF1_uc003lmq.3_Frame_Shift_Del_p.G35fs|FGF1_uc010jgj.3_Frame_Shift_Del_p.G35fs|FGF1_uc003lmr.3_Frame_Shift_Del_p.G35fs|FGF1_uc003lms.4_Frame_Shift_Del_p.G35fs|FGF1_uc021yew.1_Frame_Shift_Del_p.G35fs	NM_001144892	NP_001138407	P05230	FGF1_HUMAN	Homo sapiens fibroblast growth factor 1 (acidic) (FGF1), transcript variant 4, mRNA.	35					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	S100 alpha binding|fibroblast growth factor receptor binding|growth factor activity|heparin binding	p.G35D(1)		large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	TCAGGAAGTGGCCCCCGTTGC	0.552												
TBC1D9B	23061	broad.mit.edu	37	5	179306714	179306716	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr5:179306713_179306715CAGA>C	uc003mlh.3	-	7	1364_1366	c.1329_1331TCTG>G	c.(1327-1332)ttctgt>ttGt	p.443_444FC>L	TBC1D9B_uc003mli.3_In_Frame_Del_p.443_444FC>L|TBC1D9B_uc003mlj.3_In_Frame_Del_p.443_444FC>L	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	443						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCTGCGCACAGAAGCTCTGGC	0.640												
GCNT2	2651	broad.mit.edu	37	6	10529736	10529736	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:10529735_10529735GA>G	uc010joo.3	+	2	1142	c.591_591GA>G	c.(589-591)ctgfs	p.L197fs	GCNT2_uc010jol.3_Intron|GCNT2_uc010jom.3_Intron|GCNT2_uc010jop.3_Intron|GCNT2_uc003mza.3_Intron|GCNT2_uc003mzc.4_Frame_Shift_Del_p.L196fs	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) (GCNT2), transcript variant 1, mRNA.	197						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ACTTTCCCCTGAAAACCAACA	0.512												
JARID2	3720	broad.mit.edu	37	6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:15496721_15496721TG>T	uc003nbj.3	+	6	1509	c.1265_1265TG>T	c.(1264-1266)gtgfs	p.V422fs	JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.2_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	422					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)				ACTAAGGAGGTGGGGGGGCGG	0.667												
HLA-A	3105	broad.mit.edu	37	6	29910372	29910373	+	Frame_Shift_Ins	INS	-	-	G	rs2230954	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:29910371_29910372C>CG	uc003nol.3	+	0	125_126	c.41_42C>CG	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_Ins_p.S14fs|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Frame_Shift_Ins_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						CTGCTACTCTCGGGGGCCCTGG	0.708									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)		
EHMT2	10919	broad.mit.edu	37	6	31857273	31857284	+	In_Frame_Del	DEL	TCTTCCTCTTCT	TCTTCCTCTTCT	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:31857272_31857283ATCTTCCTCTTCT>A	uc003nxz.1	-	7	971_982	c.961_972AGAAGAGGAAGAT>T	c.(961-972)gaagaggaagat>T	p.EEED321del	EHMT2_uc003nxy.1_In_Frame_Del_p.EEED112del|EHMT2_uc011don.1_In_Frame_Del_p.EEED378del|EHMT2_uc003nya.1_In_Frame_Del_p.EEED321del	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	321	Poly-Glu.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CTGActcctcatcttcctcttcttcttcctct	0.505												
DNAH8	1769	broad.mit.edu	37	6	38697695	38697696	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	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												
BEND3	57673	broad.mit.edu	37	6	107391602	107391602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:107391601_107391601TC>T	uc003prs.2	-	4	1444	c.794_794GA>A	c.(793-795)gacfs	p.D265fs		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	265	BEN 1.							p.D265fs*54(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCAGGCCAGGTCCCCCCCTGA	0.652												
ROS1	6098	broad.mit.edu	37	6	117622205	117622206	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:117622204_117622205G>GA	uc003pxp.1	-	41	6864_6865	c.6665_6666C>TC	c.(6664-6666)ttcfs	p.F2222fs	ROS1_uc011ebi.1_Non-coding_Transcript|RN7SK_uc021zee.1_5'Flank	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2222	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		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)		TGCTATTTAAGAAAAAATTTCT	0.351			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""							
TAAR6	319100	broad.mit.edu	37	6	132891868	132891868	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr6:132891867_132891867AC>A	uc011eck.2	+	0	407	c.407_407AC>A	c.(406-408)gacfs	p.D136fs		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	136						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GCGGTTACTGACCCCCTGGTC	0.483												
IGFBP1	3484	broad.mit.edu	37	7	45930305	45930305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	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)
SEMA3D	223117	broad.mit.edu	37	7	84751151	84751151	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:84751150_84751150GA>G	uc003uic.3	-	0	98	c.58_58TC>C	c.(58-60)cctfs	p.P20fs	SEMA3D_uc010led.3_Frame_Shift_Del_p.P20fs|SEMA3D_uc010lee.1_Frame_Shift_Del_p.P20fs	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	20					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ATCAAAGCAGGAAAAAGGTGA	0.343												
ZNF804B	219578	broad.mit.edu	37	7	88963201	88963202	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:88963200_88963201A>AT	uc011khi.2	+	3	1442_1443	c.904_905A>AT	c.(904-906)attfs	p.I302fs		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	302						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAACTCTAAAATTTTGCAAGAC	0.342										HNSCC(36;0.09)		
ACTL6B	51412	broad.mit.edu	37	7	100253163	100253163	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:100253162_100253162GC>G	uc003uvy.3	-	2	257	c.150_150GC>C	c.(148-150)ggcfs	p.G50fs	ACTL6B_uc003uvz.3_Non-coding_Transcript|AK055267_uc003uwa.1_5'Flank	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	50	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity).				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCTCCAGCCCGCCCCCCTCCT	0.642												
SLC26A4	5172	broad.mit.edu	37	7	107323940	107323940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:107323939_107323939GA>G	uc003vep.3	+	7	1182	c.958_958GA>G	c.(958-960)gaafs	p.E320fs		NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	320					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.E320K(2)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGCCAACCTGGAAAAAAATTA	0.348									Pendred syndrome			
LRRN3	54674	broad.mit.edu	37	7	110763686	110763686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:110763685_110763685TA>T	uc003vft.4	+	3	1903	c.857_857TA>T	c.(856-858)ttafs	p.L286fs	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Frame_Shift_Del_p.L286fs|LRRN3_uc003vfs.4_Frame_Shift_Del_p.L286fs|LRRN3_uc022akc.1_Frame_Shift_Del_p.L286fs	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	286						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATGCTACACTTAAAAGAGTTG	0.328												
TSGA13	114960	broad.mit.edu	37	7	130357652	130357652	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:130357651_130357651CT>C	uc003vqi.3	-	5	910	c.453_453AG>G	c.(451-453)aagfs	p.K151fs	TSGA13_uc003vqj.3_Frame_Shift_Del_p.K151fs	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	151										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TAGATCTTAACTTTTTTTTCT	0.453												
BPGM	669	broad.mit.edu	37	7	134346536	134346537	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:134346535_134346536T>TG	uc003vrv.3	+	2	817_818	c.276_277T>TG	c.(274-279)tatgggfs	p.Y92fs	BPGM_uc003vrw.3_Frame_Shift_Ins_p.Y92fs	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	92					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						AGCGTCACTATGGGGCCTTGAT	0.530												
SVOPL	136306	broad.mit.edu	37	7	138312996	138312997	+	Frame_Shift_Ins	INS	-	-	C	rs79662895		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr7:138312995_138312996T>TC	uc011kqh.2	-	9	976_977	c.976_977A>GA	c.(976-978)gacfs	p.D326fs	SVOPL_uc003vue.3_Frame_Shift_Ins_p.D174fs	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	326						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCCCCTGAGTCCCCCCCAGTC	0.554												
AGPAT5	55326	broad.mit.edu	37	8	6612594	6612595	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:6612593_6612594C>CA	uc003wqo.3	+	6	1079_1080	c.767_768C>CA	c.(766-768)ccafs	p.P256fs	AGPAT5_uc011kwm.2_Frame_Shift_Ins_p.Q81fs	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) (AGPAT5), mRNA.	256					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		AAAGAATGTCCAAAAATTCATA	0.287												
PRSS55	203074	broad.mit.edu	37	8	10395995	10395995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:10395994_10395994TG>T	uc003wta.3	+	4	790	c.750_750TG>T	c.(748-750)agtfs	p.S250fs	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	250	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AGGGTGACAGTGGGGGGCCTC	0.592												
RP1L1	94137	broad.mit.edu	37	8	10480280	10480282	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:10480279_10480281GGGA>G	uc003wtc.3	-	1	660_662	c.431_433TCCC>C	c.(430-435)tcccgg>tCgg	p.R145del		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	145					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)		AGACTCTTCCGGGAGGAGGAGGT	0.586												
PSD3	23362	broad.mit.edu	37	8	18490209	18490210	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:18490208_18490209C>CA	uc003wza.3	-	10	2427_2428	c.2324_2325G>TG	c.(2323-2325)ttgfs	p.L775fs	PSD3_uc003wyx.4_Frame_Shift_Ins_p.L104fs|PSD3_uc003wyy.3_Frame_Shift_Ins_p.L241fs|PSD3_uc003wyz.3_Frame_Shift_Ins_p.L76fs	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	776					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GAGGAATGTCCAAAAATGGGTT	0.406												
KIF13B	23303	broad.mit.edu	37	8	28956670	28956670	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:28956669_28956669AT>A	uc003xhh.4	-	35	4364	c.4305_4305AT>T	c.(4303-4305)aatfs	p.N1435fs	KIF13B_uc011laz.2_5'UTR	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1435					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GAGAATGGTTATTTTGGGGAG	0.448												
WHSC1L1	54904	broad.mit.edu	37	8	38187222	38187223	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:38187221_38187222G>GT	uc003xli.3	-	5	1773_1774	c.1255_1256C>AC	c.(1255-1257)accfs	p.T419fs	WHSC1L1_uc011lbm.2_Frame_Shift_Ins_p.T419fs|WHSC1L1_uc010lwe.3_Frame_Shift_Ins_p.T419fs|WHSC1L1_uc003xlj.3_Frame_Shift_Ins_p.T419fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	419					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGGTCGTCGGGTTTTTTTAACT	0.431			T	NUP98	AML							
RP1	6101	broad.mit.edu	37	8	55540279	55540280	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:55540278_55540279C>CT	uc003xsd.1	+	3	3984_3985	c.3836_3837C>CT	c.(3835-3837)actfs	p.T1279fs	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1279					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			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		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)			CCCAGTGACACTTTTTTTCCTA	0.416												
TRPA1	8989	broad.mit.edu	37	8	72981376	72981376	+	Frame_Shift_Del	DEL	T	T	-	rs61753713	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:72981375_72981375GT>G	uc003xza.3	-	2	502	c.327_327AC>C	c.(325-327)aacfs	p.N109fs		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	109						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTTCAATTTGGTTTTTTTCTA	0.403												
NBN	4683	broad.mit.edu	37	8	90958480	90958480	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:90958479_90958479CT>C	uc003yej.1	-	12	2069	c.1959_1959AG>G	c.(1957-1959)aagfs	p.K653fs	NBN_uc011lgb.1_Frame_Shift_Del_p.K653fs|NBN_uc003yei.1_Frame_Shift_Del_p.K571fs	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	653					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCAATAACAGCTTTTTTGGAA	0.323								Homologous recombination				
FAM135B	51059	broad.mit.edu	37	8	139158296	139158296	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr8:139158295_139158295TA>T	uc003yuy.3	-	15	3620	c.3449_splice	c.e15-1	p.G1150_splice	FAM135B_uc003yux.3_Splice_Site_p.G1051_splice|FAM135B_uc003yuz.3_Splice_Site|FAM135B_uc003yva.3_Splice_Site_p.G712_splice|FAM135B_uc003yvb.3_Splice_Site_p.W677_splice	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1150										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	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)			CACTGTTCCCTAAAAATGACA	0.448										HNSCC(54;0.14)		
TEK	7010	broad.mit.edu	37	9	27190548	27190549	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:27190547_27190548G>GC	uc011lno.2	+	8	1661_1662	c.1219_1220G>GC	c.(1219-1221)gccfs	p.A407fs	TEK_uc003zqi.4_Frame_Shift_Ins_p.A450fs|TEK_uc011lnp.2_Frame_Shift_Ins_p.A303fs|TEK_uc003zqj.1_Frame_Shift_Ins_p.A384fs	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	450	Ig-like C2-type 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GCCCCTGAATGCCCCAAACGTG	0.421												
PIGO	84720	broad.mit.edu	37	9	35092523	35092523	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:35092522_35092522AC>A	uc003zwd.3	-	6	1758	c.1362_1362GT>T	c.(1360-1362)ggtfs	p.G454fs	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Frame_Shift_Del_p.G17fs	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	454					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGAGAGCAGTACCCCCCGCCA	0.592												
IPPK	64768	broad.mit.edu	37	9	95396773	95396775	+	Splice_Site	DEL	GAA	GAA	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:95396772_95396774TGAA>T	uc004asl.1	-	11	1345	c.1068_splice	c.e11-1	p.R356_splice	IPPK_uc004ask.1_Splice_Site_p.R55_splice	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	356					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						AAGGTTTTTCTGAAGAAGAAAGC	0.443											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MUSK	4593	broad.mit.edu	37	9	113459694	113459695	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:113459693_113459694C>CA	uc022blv.1	+	4	709_710	c.575_576C>CA	c.(574-576)gcafs	p.A192fs	MUSK_uc022blt.1_Frame_Shift_Ins_p.A192fs|MUSK_uc004bez.2_Frame_Shift_Ins_p.A192fs|MUSK_uc022blu.1_Frame_Shift_Ins_p.A192fs	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	192	Ig-like 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V191A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CGATGTGTGGCAAAAAACAGCC	0.480												
C9orf80	58493	broad.mit.edu	37	9	115456516	115456517	+	Splice_Site	INS	-	-	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:115456515_115456516T>TA	uc004bgg.3	-	3	203	c.26_splice	c.e3-1	p.G9_splice	C9orf80_uc010muk.3_Splice_Site	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	9					DNA repair|response to ionizing radiation	SOSS complex	protein binding	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						TTTGAAAACCTAAAAAAAAGAG	0.347												
ZFP37	7539	broad.mit.edu	37	9	115806400	115806400	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:115806399_115806399GT>G	uc011lwz.1	-	3	572	c.544_544AC>C	c.(544-546)catfs	p.H182fs	ZFP37_uc004bgm.1_Frame_Shift_Del_p.H167fs|ZFP37_uc011lxa.1_Frame_Shift_Del_p.H168fs	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	167						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GAAGGAACATGTTTTTTATGC	0.343												
LCN12	286256	broad.mit.edu	37	9	139846847	139846847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:139846846_139846846AC>A	uc004ckc.3	+	0	75	c.67_67AC>A	c.(67-69)accfs	p.T23fs	LCN12_uc022bpx.1_Frame_Shift_Del_p.T23fs|LCN12_uc004ckb.3_Frame_Shift_Del_p.T23fs			Q6JVE5	LCN12_HUMAN	Homo sapiens lipocalin 12 (LCN12), mRNA.	23					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CCAGACCCCAACCCCCCTGCC	0.637												
ANAPC2	29882	broad.mit.edu	37	9	140069815	140069815	+	Frame_Shift_Del	DEL	G	G	-	rs150560922	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr9:140069814_140069814CG>C	uc004clr.1	-	11	2204	c.2131_2131CG>G	c.(2131-2133)ggcfs	p.G711fs	ANAPC2_uc004clq.1_Frame_Shift_Del_p.G567fs	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	711					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|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|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GAGAAGGTGCCGGGGGGCTCC	0.662												
ARHGAP12	94134	broad.mit.edu	37	10	32101710	32101710	+	Frame_Shift_Del	DEL	T	T	-	rs143153220		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:32101709_32101709GT>G	uc001ivz.1	-	14	2147	c.1877_1877AC>C	c.(1876-1878)accfs	p.T626fs	ARHGAP12_uc001ivy.1_Frame_Shift_Del_p.T572fs|ARHGAP12_uc009xls.2_Frame_Shift_Del_p.T577fs|ARHGAP12_uc001iwb.1_Frame_Shift_Del_p.T619fs|ARHGAP12_uc001iwc.1_Frame_Shift_Del_p.T594fs|ARHGAP12_uc009xlq.1_Frame_Shift_Del_p.T547fs	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	626					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GTTTTTCTTGGTTTTTTTCTG	0.318												
NUDT13	25961	broad.mit.edu	37	10	74879813	74879814	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:74879812_74879813T>TA	uc001jtj.3	+	2	245_246	c.120_121T>TA	c.(118-123)tgtaaafs	p.C40fs	NUDT13_uc010qkc.2_5'UTR|NUDT13_uc010qkd.2_5'UTR|NUDT13_uc009xqw.3_Non-coding_Transcript|NUDT13_uc001jtk.3_Frame_Shift_Ins_p.C40fs|NUDT13_uc010qke.2_5'UTR|NUDT13_uc001jtl.3_Frame_Shift_Ins_p.C40fs	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 13 (NUDT13), mRNA.	40							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					ATGATGCATGTAAAAAAGCCCA	0.426												
DNAJC9	23234	broad.mit.edu	37	10	75003276	75003277	+	Splice_Site	DEL	CT	CT	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:75003275_75003276GCT>G	uc001jtr.3	-	5	979	c.664_splice	c.e5-1	p.S222_splice	DNAJC9_uc010qkg.2_Splice_Site_p.S222_splice	NM_015190	NP_056005	Q8WXX5	DNJC9_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 9 (DNAJC9), mRNA.	222					protein folding		heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					CCTTTTGTCTGCTCTGTTTGAG	0.411												
KIAA0913	23053	broad.mit.edu	37	10	75553466	75553466	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:75553465_75553465GC>G	uc001jvj.3	+	10	2688	c.2433_2433GC>G	c.(2431-2433)ccgfs	p.P811fs	KIAA0913_uc001jve.3_Frame_Shift_Del_p.P811fs|KIAA0913_uc009xrl.3_Frame_Shift_Del_p.P811fs|KIAA0913_uc001jvf.3_Frame_Shift_Del_p.P811fs|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Frame_Shift_Del_p.P234fs|KIAA0913_uc010qkr.2_Frame_Shift_Del_p.P234fs	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	811							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					AGGTAGAGCCGCCCCCTGCCA	0.627												
KIF20B	9585	broad.mit.edu	37	10	91497815	91497815	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:91497814_91497814CA>C	uc001kgs.1	+	19	3288	c.3216_3216CA>C	c.(3214-3216)tccfs	p.S1072fs	KIF20B_uc001kgr.1_Frame_Shift_Del_p.S1032fs|KIF20B_uc001kgt.1_Frame_Shift_Del_p.S283fs|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1072					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGGCCTCTTCCAAAAAAAGTC	0.348												
CHST15	51363	broad.mit.edu	37	10	125805647	125805647	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr10:125805646_125805646TG>T	uc001lhn.3	-	1	817	c.83_83CA>A	c.(82-84)catfs	p.H28fs	CHST15_uc001lhm.3_Frame_Shift_Del_p.H28fs|CHST15_uc010que.2_Frame_Shift_Del_p.H28fs|CHST15_uc001lho.3_Frame_Shift_Del_p.H28fs	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	28					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GTGACCGTGATGGGGGCCCCC	0.547												
MUC6	4588	broad.mit.edu	37	11	1018609	1018612	+	Frame_Shift_Del	DEL	TGTA	TGTA	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:1018608_1018611GTGTA>G	uc001lsw.2	-	30	4241_4244	c.4190_4193TACAC>C	c.(4189-4194)tacacafs	p.Y1397fs		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1397	Pro-rich.|Thr-rich.				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)		TTGGGGCGTTGTGTATTCAGTAGT	0.603												
DGKZ	8525	broad.mit.edu	37	11	46400753	46400754	+	Splice_Site	INS	-	-	C	rs3832759		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:46400752_46400753G>GC	uc001ncn.1	+	30	3229	c.3104_splice	c.e30-1	p.A1035_splice	DGKZ_uc001nch.2_Splice_Site_p.A863_splice|DGKZ_uc010rgr.2_Splice_Site_p.A851_splice|DGKZ_uc001ncj.2_Splice_Site_p.A813_splice|DGKZ_uc001nck.2_Splice_Site_p.A625_splice|DGKZ_uc001ncm.2_Splice_Site_p.A846_splice|DGKZ_uc001ncl.2_Splice_Site_p.A847_splice|DGKZ_uc009yky.1_Splice_Site_p.A847_splice|DGKZ_uc010rgs.1_Splice_Site_p.A824_splice|MDK_uc009ykz.1_5'Flank|MDK_uc001nco.3_5'Flank|MDK_uc001ncp.3_5'Flank|MDK_uc009yla.3_5'Flank|MDK_uc009ylb.3_5'Flank|MDK_uc001ncq.3_5'Flank	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	1035					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCCTTCTCCAGCCCCCCCAGAG	0.649												
CTNND1	1500	broad.mit.edu	37	11	57569589	57569590	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:57569588_57569589T>TA	uc001nmc.4	+	6	1911_1912	c.1340_1341T>TA	c.(1339-1341)atafs	p.I447fs	CTNND1_uc001nlf.2_Frame_Shift_Ins_p.I447fs|CTNND1_uc021qjk.1_Frame_Shift_Ins_p.I447fs|CTNND1_uc001nlh.1_Frame_Shift_Ins_p.I447fs|CTNND1_uc001nlj.4_Frame_Shift_Ins_p.I393fs|CTNND1_uc001nlq.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nlr.4_Frame_Shift_Ins_p.I393fs|CTNND1_uc001nln.4_Frame_Shift_Ins_p.I447fs|CTNND1_uc001nli.4_Frame_Shift_Ins_p.I447fs|CTNND1_uc001nlo.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nlp.4_Frame_Shift_Ins_p.I393fs|CTNND1_uc001nlu.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nlt.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nlv.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nls.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nlw.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nmf.4_Frame_Shift_Ins_p.I447fs|CTNND1_uc001nlx.4_Frame_Shift_Ins_p.I124fs|CTNND1_uc001nlz.4_Frame_Shift_Ins_p.I124fs|CTNND1_uc009ymn.3_Frame_Shift_Ins_p.I124fs|CTNND1_uc001nly.4_Frame_Shift_Ins_p.I124fs|CTNND1_uc001nmb.4_Frame_Shift_Ins_p.I124fs|CTNND1_uc001nma.4_Frame_Shift_Ins_p.I124fs|CTNND1_uc001nmd.4_Frame_Shift_Ins_p.I393fs|CTNND1_uc001nlk.4_Frame_Shift_Ins_p.I393fs|CTNND1_uc001nme.4_Frame_Shift_Ins_p.I447fs|CTNND1_uc001nll.4_Frame_Shift_Ins_p.I393fs|CTNND1_uc001nlm.4_Frame_Shift_Ins_p.I447fs|CTNND1_uc001nmi.4_Frame_Shift_Ins_p.I346fs|CTNND1_uc001nmg.4_Frame_Shift_Ins_p.I393fs|CTNND1_uc001nmh.4_Frame_Shift_Ins_p.I447fs	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	447					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGATTGCCATAAAAAACTGTG	0.465												
OR4D6	219983	broad.mit.edu	37	11	59224768	59224768	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:59224767_59224767AT>A	uc010rku.2	+	0	334	c.334_334AT>A	c.(334-336)attfs	p.I112fs		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGGGGCAGATATTTTTTTCCT	0.483												
CDC42BPG	55561	broad.mit.edu	37	11	64603962	64603962	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:64603961_64603961GC>G	uc001obs.4	-	11	1426	c.1426_1426GC>C	c.(1426-1428)cccfs	p.P476fs		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	476					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCAGCTGGGGGCCCATCCGTC	0.647											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
DLG2	1740	broad.mit.edu	37	11	83676478	83676479	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:83676477_83676478TCG>T	uc001paj.2	-	7	1078_1079	c.775_776CGA>A	c.(775-777)gaafs	p.E259fs	DLG2_uc001pai.2_Frame_Shift_Del_p.E208fs|DLG2_uc010rsy.1_Frame_Shift_Del_p.E226fs|DLG2_uc021qof.1_Frame_Shift_Del_p.E298fs|DLG2_uc010rsz.1_Frame_Shift_Del_p.E259fs|DLG2_uc010rta.1_Frame_Shift_Del_p.E259fs|DLG2_uc001pak.2_Frame_Shift_Del_p.E364fs|DLG2_uc010rtb.1_Frame_Shift_Del_p.E226fs|DLG2_uc001pal.1_Frame_Shift_Del_p.E259fs|DLG2_uc001pam.2_Frame_Shift_Del_p.E298fs	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	259	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TACTGCCTCTTCGTGTGTTACT	0.351												
DCUN1D5	84259	broad.mit.edu	37	11	102953515	102953516	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:102953514_102953515T>TA	uc001phm.3	-	3	646_647	c.303_304A>TA	c.(301-306)tttaccfs	p.F101fs	DCUN1D5_uc010ruw.2_Frame_Shift_Ins_p.F32fs	NM_032299	NP_115675	Q9BTE7	DCNL5_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae) (DCUN1D5), mRNA.	101	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		TCTTCCTTGGTAAAAAATCCCA	0.317												
CWF19L2	143884	broad.mit.edu	37	11	107219738	107219739	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr11:107219737_107219738G>GC	uc010rvp.2	-	13	2157_2158	c.2127_2128C>GC	c.(2125-2130)gggcacfs	p.G709fs	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	709							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATCAGGCAGTGCCCCTCAGTAA	0.366												
CLEC12B	387837	broad.mit.edu	37	12	10167893	10167893	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:10167892_10167892CA>C	uc001qwz.2	+	3	579	c.451_451CA>C	c.(451-453)caafs	p.Q151fs	CLEC12B_uc001qwx.2_Frame_Shift_Del_p.Q151fs|CLEC12B_uc001qwy.2_Frame_Shift_Del_p.Q48fs|CLEC12B_uc009zhe.2_Non-coding_Transcript	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN	Homo sapiens C-type lectin domain family 12, member B (CLEC12B), transcript variant 1, mRNA.	151	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						GCAATGGTACCAAAATAGTTG	0.393												
ITPR2	3709	broad.mit.edu	37	12	26749901	26749901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:26749900_26749900AT>A	uc001rhg.3	-	30	4587	c.4170_4170AT>T	c.(4168-4170)aatfs	p.N1390fs		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1390					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGTGTAGACATTTTTCCCCT	0.527												
OR6C65	403282	broad.mit.edu	37	12	55794610	55794611	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:55794609_55794610A>AT	uc010spl.2	+	0	297_298	c.297_298A>AT	c.(295-300)gtatttfs	p.V99fs		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L102fs*1(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TGGCCCAAGTATTTTTTTTAAT	0.356												
STAT6	6778	broad.mit.edu	37	12	57499094	57499094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:57499093_57499093TG>T	uc009zpg.3	-	8	991	c.989_989CA>A	c.(988-990)cagfs	p.Q330fs	STAT6_uc009zpe.3_Frame_Shift_Del_p.Q281fs|STAT6_uc001sna.3_Frame_Shift_Del_p.Q281fs|STAT6_uc009zpf.3_Frame_Shift_Del_p.Q281fs|STAT6_uc010srb.2_Frame_Shift_Del_p.Q171fs|STAT6_uc010src.2_Frame_Shift_Del_p.Q171fs|STAT6_uc010srd.2_Frame_Shift_Del_p.Q171fs	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	281					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTG	0.637												
LEMD3	23592	broad.mit.edu	37	12	65564258	65564259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:65564257_65564258T>TC	uc001ssl.2	+	0	907_908	c.881_882T>TC	c.(880-882)ctcfs	p.L294fs	LEMD3_uc009zqo.2_Frame_Shift_Ins_p.L294fs	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	294					negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	p.L297fs*4(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AGTAAGCCTCTCCCCCCGCTGA	0.629												
NR2C1	7181	broad.mit.edu	37	12	95419000	95419001	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:95418999_95419000CTA>C	uc001tdm.4	-	12	1819_1820	c.1563_1564TAG>G	c.(1561-1566)atagagfs	p.I521fs		NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	521					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGAAATTTCTCTATCTGTTCCA	0.322												
NUAK1	9891	broad.mit.edu	37	12	106532344	106532344	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr12:106532343_106532343GC>G	uc001tlj.1	-	0	1469	c.89_89GC>C	c.(88-90)gcgfs	p.A30fs		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	30							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGCTGCAGTCGCCCCCGCCAC	0.721												
SACS	26278	broad.mit.edu	37	13	23911829	23911830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:23911828_23911829G>GA	uc001uon.2	-	9	6775_6776	c.6186_6187C>TC	c.(6184-6189)tttccafs	p.F2062fs	SACS_uc001uoo.2_Frame_Shift_Ins_p.F1915fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2062					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAATATTTGGAAAAAACACTT	0.337												
COG6	57511	broad.mit.edu	37	13	40233534	40233534	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:40233533_40233533CT>C	uc001uxh.2	+	1	286	c.186_186CT>C	c.(184-186)accfs	p.T62fs	COG6_uc001uxi.2_Frame_Shift_Del_p.T10fs|COG6_uc010acb.2_Frame_Shift_Del_p.T62fs	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	62					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		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)		CACTTTCAACCTTTTTTGTTG	0.338												
CPB2	1361	broad.mit.edu	37	13	46658416	46658417	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:46658415_46658416C>CA	uc001vaw.3	-	2	280_281	c.213_214G>TG	c.(211-216)tttgtafs	p.F71fs	AK124928_uc001vau.1_Intron|AK124928_uc001vav.1_Intron|CPB2_uc001vax.3_Frame_Shift_Ins_p.F71fs	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	Homo sapiens carboxypeptidase B2 (plasma) (CPB2), transcript variant 1, mRNA.	71					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GATGCATTTACAAAAAAATGGA	0.361												
MYCBP2	23077	broad.mit.edu	37	13	77844149	77844149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr13:77844148_77844148CT>C	uc021rks.1	-	6	1506	c.1239_1239AG>G	c.(1237-1239)aagfs	p.K413fs	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTAACCAAGACTTTTTTTCTT	0.294												
HEATR5A	25938	broad.mit.edu	37	14	31856515	31856515	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:31856514_31856514GA>G	uc001wrf.4	-	7	1186	c.1001_1001TC>C	c.(1000-1002)tctfs	p.S334fs	HEATR5A_uc010ami.3_5'UTR|HEATR5A_uc001wrg.1_5'UTR|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.S334fs	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	328							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAGGATATGAGAAAAAAAGGC	0.403												
SOS2	6655	broad.mit.edu	37	14	50626743	50626743	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:50626742_50626742AT>A	uc001wxs.4	-	9	1357	c.1259_1259AT>T	c.(1258-1260)atgfs	p.M420fs	SOS2_uc010tql.2_Frame_Shift_Del_p.M387fs|SOS2_uc010tqm.1_Non-coding_Transcript|SOS2_uc001wxt.2_Frame_Shift_Del_p.M108fs	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	420					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AATTTCATTCATTTTTTTGAT	0.358												
ARID4A	5926	broad.mit.edu	37	14	58831996	58831997	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:58831995_58831996A>AAG	uc001xdp.3	+	19	3442_3443	c.3188_3189A>AAG	c.(3187-3189)caafs	p.Q1063fs	ARID4A_uc001xdo.3_Frame_Shift_Ins_p.Q1063fs|ARID4A_uc001xdq.3_Frame_Shift_Ins_p.Q1063fs|ARID4A_uc010apg.1_Frame_Shift_Ins_p.Q741fs	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	1063					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATAATTGTACAAGAGAGAGAGA	0.386												
C14orf43	91748	broad.mit.edu	37	14	74191999	74192001	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:74191998_74192000CCTT>C	uc010tud.1	-	7	2796_2798	c.2549_2551AAGG>G	c.(2548-2553)aaggat>aGat	p.850_851KD>R	C14orf43_uc001xos.3_In_Frame_Del_p.115_116KD>R|C14orf43_uc001xot.3_In_Frame_Del_p.850_851KD>R|C14orf43_uc001xou.3_In_Frame_Del_p.850_851KD>R|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	850	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		AGGAAGAAATCCTTCTTGTAGAT	0.571												
KIAA0317	9870	broad.mit.edu	37	14	75134237	75134239	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:75134236_75134238TAGA>T	uc001xqb.3	-	15	2479_2481	c.1974_1976TCTA>A	c.(1972-1977)ttctat>ttAt	p.658_659FY>L	KIAA0317_uc010tut.1_In_Frame_Del_p.497_498FY>L	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	658	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		CAAATTTAAATAGAAGATTTTAT	0.463												
ISM2	145501	broad.mit.edu	37	14	77948937	77948937	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:77948936_77948936CG>C	uc001xtz.3	-	3	776	c.702_702CG>G	c.(700-702)ccgfs	p.P234fs	ISM2_uc001xua.3_Intron|ISM2_uc001xty.3_Frame_Shift_Del_p.P146fs	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	234						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TATCCTGGGGCGGGGGATTGC	0.647												
SERPINA1	5265	broad.mit.edu	37	14	94844975	94844975	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:94844974_94844974CG>C	uc001ycy.4	-	6	1623	c.1069_1069CG>G	c.(1069-1071)gtgfs	p.V357fs	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Frame_Shift_Del_p.V357fs|SERPINA1_uc010auy.3_Frame_Shift_Del_p.V357fs|SERPINA1_uc001ycz.4_Frame_Shift_Del_p.V357fs|SERPINA1_uc010auz.3_Frame_Shift_Del_p.V357fs|SERPINA1_uc010ava.3_Frame_Shift_Del_p.V357fs|SERPINA1_uc001ydb.4_Frame_Shift_Del_p.V357fs|SERPINA1_uc010avb.3_Frame_Shift_Del_p.V357fs|SERPINA1_uc001ydc.4_Frame_Shift_Del_p.V357fs|SERPINA1_uc010auw.3_Frame_Shift_Del_p.V357fs|SERPINA1_uc010aux.3_Frame_Shift_Del_p.V357fs	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	357					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GCCTTATGCACGGCCTGGAGG	0.592												
DYNC1H1	1778	broad.mit.edu	37	14	102483456	102483458	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:102483455_102483457ACTC>A	uc001yks.2	+	38	8043_8045	c.7879_7881ACTC>A	c.(7879-7881)act>A	p.T2627del	DYNC1H1_uc001ykt.1_In_Frame_Del_p.T118del	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2627	AAA 3 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGTGCTACTACTCCAGAGCTGC	0.517												
TNFAIP2	7127	broad.mit.edu	37	14	103601646	103601646	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr14:103601645_103601645TG>T	uc001ymm.1	+	10	2044	c.1913_1913TG>T	c.(1912-1914)atgfs	p.M638fs	TNFAIP2_uc010awo.1_Frame_Shift_Del_p.M298fs|TNFAIP2_uc010txz.1_Frame_Shift_Del_p.M307fs|TNFAIP2_uc010tya.1_Frame_Shift_Del_p.M121fs	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	638					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			GACGTCAGCATGGGGGCGCAG	0.587												
INO80	54617	broad.mit.edu	37	15	41377755	41377755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:41377754_41377754CT>C	uc001zni.3	-	6	899	c.686_686AG>G	c.(685-687)agafs	p.R229fs	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	229	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATCTCTTCGTCTTTTTTTCTT	0.448												
FAM63B	54629	broad.mit.edu	37	15	59146784	59146784	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:59146783_59146783GA>G	uc002afj.3	+	8	2042	c.1840_1840GA>G	c.(1840-1842)gaafs	p.E614fs	FAM63B_uc002afi.3_Frame_Shift_Del_p.E613fs|FAM63B_uc002afk.3_Non-coding_Transcript|FAM63B_uc002afl.3_Non-coding_Transcript	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	Homo sapiens family with sequence similarity 63, member B (FAM63B), transcript variant 1, mRNA.	614										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AAAAGAAAAGGAAAAAAATAG	0.413												
AKAP13	11214	broad.mit.edu	37	15	86123308	86123309	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr15:86123307_86123308AAC>A	uc002blv.1	+	6	2178_2179	c.2008_2009AAC>A	c.(2008-2010)aacfs	p.N670fs	AKAP13_uc002blt.1_Frame_Shift_Del_p.N670fs|AKAP13_uc002blu.1_Frame_Shift_Del_p.N670fs|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	670					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	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATGTCAACAGAACACAGTGACT	0.446												
MSLN	10232	broad.mit.edu	37	16	816794	816794	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:816793_816793GC>G	uc002cjw.2	+	12	1491	c.1380_1380GC>G	c.(1378-1380)gtgfs	p.V460fs	MSLN_uc002cju.1_Frame_Shift_Del_p.V452fs|MSLN_uc002cjt.1_Frame_Shift_Del_p.V452fs|MSLN_uc010brd.1_Frame_Shift_Del_p.V451fs|MSLN_uc002cjy.1_Frame_Shift_Del_p.V117fs	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	460					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGAGCTCCGTGCCCCCCAGCA	0.657												
TRAP1	10131	broad.mit.edu	37	16	3736090	3736090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:3736089_3736089GT>G	uc002cvt.4	-	3	468	c.379_379AC>C	c.(379-381)ctgfs	p.L127fs	TRAP1_uc010uxf.2_Frame_Shift_Del_p.L74fs	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	Homo sapiens TNF receptor-associated protein 1 (TRAP1), mRNA.	127					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TTGTGACGCAGTTTTTCCAAG	0.512												
ZC3H7A	29066	broad.mit.edu	37	16	11873222	11873222	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:11873221_11873221TA>T	uc002dbk.3	-	3	307	c.109_splice	c.e3-1	p.V37_splice	ZC3H7A_uc002dbl.3_Splice_Site_p.V37_splice|ZC3H7A_uc002dbm.2_Splice_Site_p.V37_splice	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	37						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CAAATATACCTAAAAAAAAGA	0.338												
ATP2A1	487	broad.mit.edu	37	16	28914166	28914166	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:28914165_28914165GC>G	uc002dro.1	+	18	2861	c.2677_2677GC>G	c.(2677-2679)gccfs	p.A893fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Del_p.A893fs|ATP2A1_uc002drp.1_Frame_Shift_Del_p.A768fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	893					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						GGTCTTCGAGGCCCCCGAGCC	0.617												
PRR14	78994	broad.mit.edu	37	16	30664413	30664413	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:30664412_30664412AC>A	uc002dyy.3	+	4	750	c.492_492AC>A	c.(490-492)agafs	p.R164fs	PRR14_uc002dyz.3_Frame_Shift_Del_p.R9fs|PRR14_uc002dza.3_Frame_Shift_Del_p.R164fs|PRR14_uc002dzb.1_5'Flank	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	164	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCAGTCCTAGACCCCCCGCTG	0.612												
GPT2	84706	broad.mit.edu	37	16	46918674	46918674	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:46918673_46918673AC>A	uc002eel.3	+	1	140	c.46_46AC>A	c.(46-48)accfs	p.T16fs	GPT2_uc002eem.3_5'Flank	NM_133443	NP_001135938	Q8TD30	ALAT2_HUMAN	Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA.	16					2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		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)	TGGTCCCCGGACCCCCAGCTC	0.716												
TOX3	27324	broad.mit.edu	37	16	52497931	52497931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:52497930_52497930AG>A	uc002egw.2	-	2	495	c.324_324CT>T	c.(322-324)cctfs	p.P108fs	TOX3_uc010vgt.1_Frame_Shift_Del_p.P103fs	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	108					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CCAGGCTTTGAGGGGGAAACT	0.522												
CNGB1	1258	broad.mit.edu	37	16	57994756	57994757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:57994755_57994756T>TG	uc002emt.2	-	7	587_588	c.522_523A>CA	c.(520-525)cccaaafs	p.P174fs	CNGB1_uc010cdh.2_Frame_Shift_Ins_p.P174fs|CNGB1_uc002emu.2_Frame_Shift_Ins_p.P174fs	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	174	Pro-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.P174L(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCAGAGGATTTGGGGGGCTGAG	0.634												
PDPR	55066	broad.mit.edu	37	16	70190614	70190614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:70190613_70190613CG>C	uc002eyf.1	+	18	3428	c.2471_2471CG>C	c.(2470-2472)acgfs	p.T824fs	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Frame_Shift_Del_p.T724fs|PDPR_uc002eyg.1_Frame_Shift_Del_p.T491fs|PDPR_uc002eyh.2_Frame_Shift_Del_p.T169fs|PDPR_uc010vls.1_Frame_Shift_Del_p.T169fs|PDPR_uc021tkj.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	824					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TCTGAGGACACGGGGGAAGAG	0.557												
KIAA0182	23199	broad.mit.edu	37	16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr16:85682289_85682290A>AC	uc002fix.3	+	2	432_433	c.358_359A>AC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688												
ABHD15	116236	broad.mit.edu	37	17	27890007	27890007	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:27890006_27890006CT>C	uc002hed.2	-	1	1038	c.980_980AG>G	c.(979-981)agcfs	p.S327fs		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	327						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GATGGGGAAGCTTTTGGTGTG	0.592												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	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												
TEX14	56155	broad.mit.edu	37	17	56676292	56676293	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:56676291_56676292A>AC	uc010dcz.2	-	13	2550_2551	c.2432_2433T>GT	c.(2431-2433)ggtfs	p.G811fs	TEX14_uc002iwr.2_Frame_Shift_Ins_p.G805fs|TEX14_uc002iws.2_Frame_Shift_Ins_p.G805fs|TEX14_uc010dda.2_Frame_Shift_Ins_p.G585fs	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	811						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGCTTCTGACCCCCTGAAAG	0.475												
TBX2	6909	broad.mit.edu	37	17	59479239	59479240	+	Frame_Shift_Ins	INS	-	-	A	rs76487118		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:59479238_59479239G>GA	uc010wox.2	+	1	870_871	c.589_590G>GA	c.(589-591)gagfs	p.E197fs	TBX2_uc002ize.3_Frame_Shift_Ins_p.E187fs|TBX2_uc002izg.3_Frame_Shift_Ins_p.E43fs	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	197					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						AGCCACGGGGGAGCAGTGGATG	0.609												
KCNH6	81033	broad.mit.edu	37	17	61620959	61620960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr17:61620958_61620959T>TC	uc002jay.3	+	9	2250_2251	c.2170_2171T>TC	c.(2170-2172)tccfs	p.S724fs	KCNH6_uc010wpl.2_Frame_Shift_Ins_p.S601fs|KCNH6_uc010wpm.2_Frame_Shift_Ins_p.S724fs|KCNH6_uc002jaz.1_Frame_Shift_Ins_p.S671fs	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	724					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCTCCACTCATCCCCCCGACAG	0.594												
KIAA0195	9772	broad.mit.edu	37	17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	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												
DSC2	1824	broad.mit.edu	37	18	28659851	28659851	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:28659850_28659850AT>A	uc002kwl.4	-	10	2080	c.1626_1626AT>T	c.(1624-1626)aatfs	p.N542fs	DSC2_uc002kwk.4_Frame_Shift_Del_p.N542fs	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	542	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TATATATGCCATTTTTGATGG	0.383												
ZCCHC2	54877	broad.mit.edu	37	18	60243776	60243776	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:60243775_60243775TC>T	uc002lip.4	+	13	3500	c.3500_3500TC>T	c.(3499-3501)ctcfs	p.L1167fs	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Frame_Shift_Del_p.L637fs	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	1167					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCACCTCCCCTCCCCCCTTCT	0.483												
ADNP2	22850	broad.mit.edu	37	18	77896426	77896426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr18:77896425_77896425TA>T	uc002lnw.3	+	3	3584	c.3129_3129TA>T	c.(3127-3129)cctfs	p.P1043fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1043					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CATTAGATCCTAAAAAATATG	0.353												
HMHA1	23526	broad.mit.edu	37	19	1074149	1074149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:1074148_1074148AG>A	uc002lqz.1	+	6	1067	c.836_836AG>A	c.(835-837)gagfs	p.E279fs	HMHA1_uc010xgd.1_Frame_Shift_Del_p.E295fs|HMHA1_uc010xge.1_Frame_Shift_Del_p.E119fs|HMHA1_uc002lra.1_Frame_Shift_Del_p.E119fs|HMHA1_uc002lrb.1_Frame_Shift_Del_p.E162fs	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	279					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		CAGCGCTGTGAGGGGGGCGTG	0.667												
MAP2K2	5605	broad.mit.edu	37	19	4117626	4117627	+	Splice_Site	INS	-	-	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:4117625_4117626G>GC	uc002lzk.3	-	2	347	c.93_splice	c.e2-1	p.E31_splice		NM_030662	NP_109587	P36507	MP2K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 2 (MAP2K2), mRNA.	31					ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAGGTTTGCCCTGCAGAGA	0.604												
ZNF358	140467	broad.mit.edu	37	19	7584517	7584517	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:7584516_7584516AC>A	uc002mgn.2	+	1	558	c.388_388AC>A	c.(388-390)accfs	p.T130fs	ZNF358_uc021unu.1_Frame_Shift_Del_p.T130fs|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	130					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCTCACTGCCACCCCCCAGGT	0.697												
MUC16	94025	broad.mit.edu	37	19	9064310	9064310	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:9064309_9064309AG>A	uc002mkp.3	-	2	23341	c.23137_23137CT>T	c.(23137-23139)tctfs	p.S7713fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7715	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATA	0.527												
LDLR	3949	broad.mit.edu	37	19	11233946	11233946	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:11233945_11233945GT>G	uc002mqk.4	+	14	2423	c.2236_2236GT>G	c.(2236-2238)gttfs	p.V746fs	LDLR_uc010xlk.2_Frame_Shift_Del_p.V746fs|LDLR_uc010xll.2_Frame_Shift_Del_p.V705fs|LDLR_uc021upc.1_Frame_Shift_Del_p.V625fs|LDLR_uc010xln.2_Frame_Shift_Del_p.V568fs|LDLR_uc010xlo.2_Frame_Shift_Del_p.V578fs|LDLR_uc010xlm.2_Frame_Shift_Del_p.V599fs|LDLR_uc021upd.1_Frame_Shift_Del_p.V483fs	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	746	Clustered O-linked oligosaccharides.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CACCCGACCTGTTCCCGACAC	0.622												
SIN3B	23309	broad.mit.edu	37	19	16963880	16963880	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:16963879_16963879GA>G	uc002ney.2	+	7	873	c.850_splice	c.e7-1	p.K284_splice	SIN3B_uc002new.3_Splice_Site_p.K284_splice|SIN3B_uc002nez.2_Splice_Site_p.K284_splice	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	284	Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCTCCCCACAGAAAAAAATGA	0.507												
HAUS8	93323	broad.mit.edu	37	19	17160887	17160887	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:17160886_17160886TG>T	uc002nfe.3	-	10	1141	c.1030_1030CA>A	c.(1030-1032)agcfs	p.S344fs	HAUS8_uc002nff.3_Frame_Shift_Del_p.S343fs	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 8 (HAUS8), transcript variant 1, mRNA.	344					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TACCACCGGCTGGGGGGCGCC	0.612												
FAM125A	93343	broad.mit.edu	37	19	17534870	17534870	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:17534869_17534869GC>G	uc002ngo.1	+	6	728	c.695_695GC>G	c.(694-696)agcfs	p.S232fs	FAM125A_uc002ngq.1_Frame_Shift_Del_p.S128fs	NM_138401	NP_612410	Q96EY5	F125A_HUMAN	Homo sapiens family with sequence similarity 125, member A (FAM125A), mRNA.	232	Interaction with TSG101, VPS37B and VPS28.|UMA.				protein transport	late endosome membrane|microtubule organizing center|nucleus	SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	8						AAGAGCTGCAGCCCCCTGGTG	0.622												
GATAD2A	54815	broad.mit.edu	37	19	19606916	19606917	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:19606915_19606916G>GC	uc010xqt.2	+	6	1123_1124	c.811_812G>GC	c.(811-813)gccfs	p.A271fs	GATAD2A_uc010xqu.2_Intron|GATAD2A_uc010xqv.2_Frame_Shift_Ins_p.A290fs|GATAD2A_uc010xqw.2_Frame_Shift_Ins_p.A98fs	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA.	271					DNA methylation|negative regulation of transcription, DNA-dependent	NuRD complex|nuclear speck	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CCTCCTCCTGGCCCCCCGGGCG	0.604												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
ZNF675	171392	broad.mit.edu	37	19	23836066	23836066	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:23836065_23836065AT>A	uc002nri.3	-	3	1852	c.1670_1670AT>T	c.(1669-1671)atafs	p.I557fs		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	557					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCCAGTATGTATTTTTTTATG	0.303												
C19orf40	91442	broad.mit.edu	37	19	33464114	33464114	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:33464113_33464113AC>A	uc002nud.4	+	1	129	c.11_11AC>A	c.(10-12)aacfs	p.N4fs	CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	4					DNA repair	Fanconi anaemia nuclear complex	DNA binding|chromatin binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					ATGGAAAAGAACCCCCCTGAT	0.612								Direct reversal of damage				
MLL2	8085	broad.mit.edu	37	19	36210764	36210764	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:36210763_36210763AC>A	uc021usv.1	+	2	514	c.514_514AC>A	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAA	0.637			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
DMPK	1760	broad.mit.edu	37	19	46280616	46280618	+	In_Frame_Del	DEL	TCC	TCC	-	rs114931926	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:46280615_46280617GTCC>G	uc002pdi.1	-	8	1378_1380	c.1192_1194GGAC>C	c.(1192-1194)gac>C	p.D398del	DMPK_uc010xxs.1_In_Frame_Del_p.D283del|DMPK_uc002pdd.1_In_Frame_Del_p.D382del|DMPK_uc002pde.1_In_Frame_Del_p.D382del|DMPK_uc002pdg.1_In_Frame_Del_p.D372del|DMPK_uc002pdf.1_In_Frame_Del_p.D372del|DMPK_uc002pdh.1_In_Frame_Del_p.D372del|DMPK_uc010xxt.1_In_Frame_Del_p.D372del	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	382	AGC-kinase C-terminal.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		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)		CAGTGAGCCCGTCCTCCACCAAG	0.621												
ZNF160	90338	broad.mit.edu	37	19	53572140	53572140	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr19:53572139_53572139AT>A	uc010eqk.3	-	6	2064	c.1648_1648AT>T	c.(1648-1650)tcafs	p.S550fs	ZNF160_uc002qaq.4_Frame_Shift_Del_p.S550fs|ZNF160_uc002qar.4_Frame_Shift_Del_p.S550fs	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	550					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CTAAGGTGTGATTTTTGAGTG	0.418												
SEL1L2	80343	broad.mit.edu	37	20	13866948	13866950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:13866947_13866949TCTC>T	uc010gcf.3	-	8	967_969	c.885_887GAGA>A	c.(883-888)ggagat>ggAt	p.D296del	SEL1L2_uc002woq.4_In_Frame_Del_p.D157del|SEL1L2_uc010zrl.2_In_Frame_Del_p.D296del|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	296						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TATCTGAACATCTCCTCTTTCTG	0.350												
NCOA3	8202	broad.mit.edu	37	20	46264985	46264985	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:46264984_46264984TA>T	uc002xtk.3	+	11	2115	c.1854_1854TA>T	c.(1852-1854)catfs	p.H618fs	NCOA3_uc002xtl.3_Frame_Shift_Del_p.H618fs|NCOA3_uc002xtn.3_Frame_Shift_Del_p.H618fs|NCOA3_uc010ght.2_Frame_Shift_Del_p.H628fs|NCOA3_uc002xtm.3_Frame_Shift_Del_p.H618fs|NCOA3_uc010zyc.2_Frame_Shift_Del_p.H413fs	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	618	Ser-rich.				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			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAAAGGTCATAAAAAATTAC	0.438												
KCNB1	3745	broad.mit.edu	37	20	47989772	47989772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:47989771_47989771TG>T	uc002xur.1	-	1	2492	c.2326_2326CA>A	c.(2326-2328)aaafs	p.K776fs	KCNB1_uc002xus.1_Frame_Shift_Del_p.K776fs	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	776					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTG	0.542												
PCK1	5105	broad.mit.edu	37	20	56140816	56140817	+	Frame_Shift_Ins	INS	-	-	GA	rs17847705		TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:56140815_56140816C>CGA	uc002xyn.4	+	9	1987_1988	c.1824_1825C>CGA	c.(1822-1827)atcgagfs	p.I608fs	PCK1_uc010zzm.2_Frame_Shift_Ins_p.I291fs	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	608					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGTGAAATCGAGAGAGAGAT	0.465												
ZBP1	81030	broad.mit.edu	37	20	56189989	56189990	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr20:56189988_56189989G>GA	uc002xyo.3	-	3	737_738	c.456_457C>TC	c.(454-459)cttctgfs	p.L152fs	ZBP1_uc010gjm.3_Frame_Shift_Ins_p.L152fs|ZBP1_uc002xyp.3_Frame_Shift_Ins_p.L77fs|ZBP1_uc010zzn.2_Frame_Shift_Ins_p.L152fs	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	152						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCCATGTCCAGAAGGTGCCTGC	0.569												
MCM3AP	8888	broad.mit.edu	37	21	47663397	47663398	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr21:47663396_47663397C>CG	uc002zir.1	-	23	5314_5315	c.5278_5279G>CG	c.(5278-5280)cggfs	p.R1760fs	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Frame_Shift_Ins_p.R255fs|MCM3AP_uc002zip.1_Frame_Shift_Ins_p.R501fs|MCM3AP_uc002ziq.1_Frame_Shift_Ins_p.R687fs|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1760					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.P1759P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AACAGGAAGCCGGGGGGGCGTC	0.525												
GAL3ST1	9514	broad.mit.edu	37	22	30951338	30951338	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:30951337_30951337TC>T	uc003aig.1	-	3	1015	c.875_875GA>A	c.(874-876)gagfs	p.E292fs	GAL3ST1_uc003aih.1_Frame_Shift_Del_p.E292fs|GAL3ST1_uc003aii.1_Frame_Shift_Del_p.E292fs|GAL3ST1_uc010gvz.1_Frame_Shift_Del_p.E292fs	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	292					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCCATACAGCTCCCCCGAGAG	0.677												
MYH9	4627	broad.mit.edu	37	22	36702008	36702008	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chr22:36702007_36702007TG>T	uc003apg.3	-	16	2359	c.2128_2128CA>A	c.(2128-2130)aacfs	p.N710fs	MYH9_uc003aph.1_Frame_Shift_Del_p.N574fs	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	710	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	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACCACCCTGTTGGGGAAGCCC	0.662			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated			
AFF2	2334	broad.mit.edu	37	X	147733548	147733548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-8536-01A-11D-2340-08	TCGA-CD-8536-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb597c0c-f005-4dea-a99f-e8d397c8b63c	e98d4cd8-3e6f-472d-9827-d471c80d7070	g.chrX:147733547_147733547TA>T	uc004fcp.3	+	1	554	c.75_75TA>T	c.(73-75)cttfs	p.L25fs	AFF2_uc004fco.3_Frame_Shift_Del_p.L25fs|AFF2_uc004fcq.3_Frame_Shift_Del_p.L25fs|AFF2_uc004fcr.3_Frame_Shift_Del_p.L25fs|AFF2_uc011mxb.2_Frame_Shift_Del_p.L25fs|AFF2_uc004fcs.3_Frame_Shift_Del_p.L25fs	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	25					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTAGTGCACTTAAAAAAAGGG	0.378